Carmen Ayuso

Q: What Schools Are Affiliated With Carmen Ayuso

Carmen Ayuso is affiliated with the following schools: Complutense University of Madrid, University of Michigan, University of Valencia, University of Seville, University of Barcelona, Harvard University, University of Nebraska Medical Center, Autonomous University of Madrid

Carmen Ayuso's AcademicInfluence.com Rankings

Carmen Ayuso

Engineering

#6014

World Rank

#7308

Historical Rank

Bioengineering

#61

World Rank

#63

Historical Rank

Cybernetics

#111

World Rank

#117

Historical Rank

Biomedical Engineering

#496

World Rank

#506

Historical Rank

engineering Degrees

Carmen Ayuso

Biology

#11127

World Rank

#14503

Historical Rank

Biotechnology

#180

World Rank

#182

Historical Rank

Cell Biology

#546

World Rank

#558

Historical Rank

biology Degrees

Download Badge

Engineering
Biology

Carmen Ayuso's Degrees

PhD Biomedical Engineering Complutense University of Madrid
Masters Biotechnology University of Barcelona
Bachelors Biology University of Valencia

Similar Degrees You Can Earn

Best Online Bachelor's in Biology 2025

Why Is Carmen Ayuso Influential?

(Suggest an Edit or Addition)

(See a Problem?)

Carmen Ayuso's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Arterial embolisation or chemoembolisation versus symptomatic treatment in patients with unresectable hepatocellular carcinoma: a randomised controlled trial (2002) (3117)
Diagnosis of hepatic nodules 20 mm or smaller in cirrhosis: Prospective validation of the noninvasive diagnostic criteria for hepatocellular carcinoma (2007) (952)
Chemoembolization of hepatocellular carcinoma with drug eluting beads: efficacy and doxorubicin pharmacokinetics. (2007) (885)
Increased risk of tumor seeding after percutaneous radiofrequency ablation for single hepatocellular carcinoma (2001) (725)
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. (2008) (479)
Magnetic resonance imaging for evaluation of Crohn's disease: Validation of parameters of severity and quantitative index of activity (2011) (433)
Initial response to percutaneous ablation predicts survival in patients with hepatocellular carcinoma (2004) (430)
Evaluation of tumor response after locoregional therapies in hepatocellular carcinoma (2009) (425)
MRI angiography is superior to helical CT for detection of HCC prior to liver transplantation: An explant correlation (2003) (416)
Survival of patients with hepatocellular carcinoma treated by transarterial chemoembolisation (TACE) using Drug Eluting Beads. Implications for clinical practice and trial design. (2012) (414)
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (1998) (409)
Preoperative Staging and Tumor Resectability Assessment of Pancreatic Cancer: Prospective Study Comparing Endoscopic Ultrasonography, Helical Computed Tomography, Magnetic Resonance Imaging, and Angiography (2004) (398)
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. (1998) (381)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence (2009) (371)
Treatment of small hepatocellular carcinoma in cirrhotic patients: A cohort study comparing surgical resection and percutaneous ethanol injection (1993) (367)
Intrahepatic peripheral cholangiocarcinoma in cirrhosis patients may display a vascular pattern similar to hepatocellular carcinoma on contrast‐enhanced ultrasound (2010) (291)
Magnetic resonance for assessment of disease activity and severity in ileocolonic Crohn’s disease (2009) (286)
Cholangiocarcinoma in cirrhosis: Absence of contrast washout in delayed phases by magnetic resonance imaging avoids misdiagnosis of hepatocellular carcinoma (2009) (275)
Tumor size determines the efficacy of percutaneous ethanol injection for the treatment of small hepatocellular carcinoma (1992) (265)
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion (2012) (263)
Randomized controlled trial of interferon treatment for advanced hepatocellular carcinoma (2000) (258)
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. (2010) (225)
Characterization of Inflammation and Fibrosis in Crohn’s Disease Lesions by Magnetic Resonance Imaging (2015) (219)
Diagnosis and staging of hepatocellular carcinoma (HCC): current guidelines. (2018) (216)
Postprogression survival of patients with advanced hepatocellular carcinoma: Rationale for second‐line trial design (2013) (214)
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. (2002) (205)
Early dermatologic adverse events predict better outcome in HCC patients treated with sorafenib. (2014) (198)
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS) (1998) (195)
Treatment of hepatocellular carcinoma with tamoxifen: a double-blind placebo-controlled trial in 120 patients. (1995) (189)
An Update on the Genetics of Usher Syndrome (2010) (186)
A phase II open label trial evaluating safety and efficacy of a telomerase peptide vaccination in patients with advanced hepatocellular carcinoma (2010) (184)
Liver Tumor Characterization: Comparison Between Liver-specific Gadoxetic Acid Disodium-enhanced MRI and Biphasic CT-A Multicenter Trial (2006) (183)
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. (1999) (177)
Non-invasive diagnosis of hepatocellular carcinoma ≤ 2 cm in cirrhosis. Diagnostic accuracy assessing fat, capsule and signal intensity at dynamic MRI. (2012) (168)
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. (2002) (165)
Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma (2002) (151)
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations (2009) (150)
Prospective validation of an immunohistochemical panel (glypican 3, heat shock protein 70 and glutamine synthetase) in liver biopsies for diagnosis of very early hepatocellular carcinoma (2012) (147)
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP (2010) (133)
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness (2005) (133)
Dual-energy CT: oncologic applications. (2012) (132)
Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process (2013) (126)
Liver Imaging Reporting and Data System with MR Imaging: Evaluation in Nodules 20 mm or Smaller Detected in Cirrhosis at Screening US. (2015) (126)
Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q (1993) (125)
2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implications (2017) (118)
Analysis of the ABCA4 genomic locus in Stargardt disease. (2014) (118)
Clinical decision making and research in hepatocellular carcinoma: Pivotal role of imaging techniques (2011) (115)
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. (2012) (113)
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma (2008) (112)
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. (2003) (108)
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. (2011) (108)
Is microbubble-enhanced ultrasonography sufficient for assessment of response to percutaneous treatment in patients with early hepatocellular carcinoma? (2006) (107)
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions (2007) (106)
AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis (2010) (106)
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray (2010) (106)
Systemic Therapy for Hepatocellular Carcinoma: The Issue of Treatment Stage Migration and Registration of Progression Using the BCLC-Refined RECIST (2014) (106)
Retinitis pigmentosa and allied conditions today: a paradigm of translational research (2010) (102)
Transarterial embolization for hepatocellular carcinoma. Antibiotic prophylaxis and clinical meaning of postembolization fever. (1995) (100)
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. (2005) (100)
C9ORF72 hexanucleotide expansions of 20–22 repeats are associated with frontotemporal deterioration (2013) (93)
On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa. (2004) (92)
Huntington disease–unaffected fetus diagnosed from maternal plasma using QF‐PCR (2003) (92)
Virtual Unenhanced Images of the Abdomen With Second-Generation Dual-Source Dual-Energy Computed Tomography: Image Quality and Liver Lesion Detection (2013) (84)
Residual splenic function after laparoscopic splenectomy: a clinical concern. (1998) (83)
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. (2007) (82)
Homozygous tandem duplication within the gene encoding the β‐subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa (1995) (81)
Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis (2013) (81)
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation (2003) (81)
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability (2009) (80)
Phase II study of transarterial embolization in european patients with hepatocellular carcinoma: Need for controlled trials (1994) (79)
Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa (2010) (78)
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome (2014) (77)
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II (2006) (76)
Comparison of three magnetic resonance enterography indices for grading activity in Crohn’s disease (2017) (76)
Comparison of Endoscopic Ultrasonography and Magnetic Resonance Cholangiopancreatography in the Diagnosis of Pancreatobiliary Diseases: A Prospective Study (2007) (76)
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. (2010) (74)
Novel mutations in the TIGR gene in early and late onset open angle glaucoma (1998) (74)
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics (2019) (73)
Imaging of HCC (2012) (73)
Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers (2008) (72)
MRA is useful as a follow‐up technique after endovascular repair of aortic aneurysms with nitinol endoprostheses (2004) (72)
Targeted next generation sequencing for molecular diagnosis of Usher syndrome (2014) (70)
Retinitis pigmentosa in Spain (1995) (68)
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. (2013) (67)
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa (2003) (66)
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly (2018) (65)
Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview (2004) (64)
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia (2004) (64)
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy (2003) (64)
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population (2013) (64)
Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. (2006) (64)
Changes in portal vein flow after adult living‐donor liver transplantation: Does it influence postoperative liver function? (2003) (64)
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. (1997) (63)
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. (2012) (62)
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. (2000) (62)
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation (2010) (61)
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. (2010) (61)
Diagnostic accuracy of magnetic resonance colonography for the evaluation of disease activity and severity in ulcerative colitis: a prospective study (2012) (61)
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations (2011) (60)
Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients. (2015) (59)
New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma. (2008) (59)
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). (2008) (58)
MYO7A mutation screening in Usher syndrome type I patients from diverse origins (2006) (57)
An excess of chromosome 1 breakpoints in male infertility (2004) (57)
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa (2001) (57)
Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele. (2006) (56)
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. (2017) (56)
Abdominal computed tomography predicts progression in patients with Rai stage 0 chronic lymphocytic leukemia. (2007) (56)
Time association between hepatitis C therapy and hepatocellular carcinoma emergence in cirrhosis: Relevance of non-characterized nodules. (2019) (56)
Complete response under sorafenib in patients with hepatocellular carcinoma: Relationship with dermatologic adverse events (2018) (56)
Frequency of constitutional chromosome alterations in patients with hematologic neoplasias. (1987) (55)
Mutations in Myosin VIIA (MYO7A) and Usherin (USH2A) in Spanish patients with usher syndrome types I and II, respectively (2002) (54)
NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia. (2019) (54)
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa (2016) (53)
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. (1999) (53)
USH2A Gene Editing Using the CRISPR System (2017) (51)
Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. (2000) (51)
Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages. (2005) (51)
Role of 3.0-T MR colonography in the evaluation of inflammatory bowel disease. (2009) (49)
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren‐Larsson syndrome (1998) (49)
Human iPSC derived disease model of MERTK-associated retinitis pigmentosa (2015) (48)
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I (2006) (48)
Preoperative evaluation of biliary anatomy in adult live liver donors with volumetric mangafodipir trisodium enhanced magnetic resonance cholangiography (2004) (48)
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype–phenotype correlation (2005) (47)
Identification of novel RP2 mutations in a subset of X‐linked retinitis pigmentosa families and prediction of new domains (2001) (47)
CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa. (2008) (46)
Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. (2000) (46)
Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis. (2012) (46)
Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. (1995) (46)
A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma. (1998) (46)
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. (2018) (45)
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families (2015) (44)
Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. (2001) (44)
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype (2017) (44)
Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. (2005) (43)
Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study (2008) (43)
67Ga scintigraphy for the evaluation of recurrences and residual masses in patients with lymphoma. (1997) (43)
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping (2010) (43)
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease (2008) (42)
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (2021) (42)
Pilot study of living donor liver transplantation for patients with hepatocellular carcinoma exceeding Milan Criteria (Barcelona Clinic Liver Cancer extended criteria) (2018) (42)
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients. (2015) (42)
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice (2016) (41)
MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages (2007) (41)
Surgical resection and survival in Western patients with hepatocellular carcinoma. (1992) (40)
[Diagnosis and treatment of hepatocellular carcinoma. Update consensus document from the AEEH, SEOM, SERAM, SERVEI and SETH]. (2016) (40)
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies (2008) (40)
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. (2015) (40)
Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene. (1999) (40)
Lack of arterial hypervascularity at contrast-enhanced ultrasound should not define the priority for diagnostic work-up of nodules <2 cm. (2015) (39)
CYP2D6 poor metabolizer status might be associated with better response to risperidone treatment. (2013) (39)
Effect of polymorphisms on the pharmacokinetics, pharmacodynamics, and safety of risperidone in healthy volunteers (2014) (38)
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies (2019) (36)
Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation (2000) (36)
Application of Fetal DNA Detection in Maternal Plasma: A Prenatal Diagnosis Unit Experience (2005) (36)
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. (2014) (36)
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases. (2019) (35)
Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4 (2019) (35)
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes (2018) (35)
Diagnostic accuracy of fine-needle aspiration biopsy in patients with hepatocellular carcinoma (1989) (34)
Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa (2012) (34)
ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis (2009) (34)
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa (1999) (34)
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. (2007) (33)
Movement disorders in hereditary ataxias (2002) (33)
Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion. (2007) (32)
Phase I trial of gefitinib with concurrent radiotherapy and fixed 2-h gemcitabine infusion, in locally advanced pancreatic cancer. (2006) (32)
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. (2014) (32)
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset (2012) (32)
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. (2009) (32)
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants (2008) (32)
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease (2007) (31)
Contrast‐enhanced power Doppler sonography and helical computed tomography for assessment of vascularity of small hepatocellular carcinomas before and after percutaneous ablation (2003) (31)
Contribution of JAK2 mutations to T-cell lymphoblastic lymphoma development (2015) (30)
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population (2007) (30)
Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease (2008) (29)
Second-Generation Dual-Energy Computed Tomography of the Abdomen: Radiation Dose Comparison With 64- and 128-Row Single-Energy Acquisition (2013) (28)
Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy. (2015) (28)
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy (2014) (28)
Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children (2015) (28)
Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa (2002) (28)
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. (2010) (27)
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative (2018) (27)
Calcifications in the portal venous system: comparison of plain films, sonography, and CT. (1992) (27)
Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters (2001) (27)
Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations. (2009) (27)
CSVS, a crowdsourcing database of the Spanish population genetic variability (2020) (26)
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. (2015) (26)
Implication of non-coding PAX6 mutations in aniridia (2018) (26)
Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene. (2010) (26)
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families (2010) (26)
Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa. (2006) (25)
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families (2015) (25)
Does Bardet-Biedl syndrome have a characteristic face? (2001) (25)
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. (2011) (24)
Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients (2013) (24)
Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients (1996) (24)
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy (2015) (24)
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex (2011) (24)
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1 (2020) (24)
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH (2017) (24)
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies (2018) (23)
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease (1996) (23)
Parental origin of chromosomal non‐disjunction in a 49,XXXXY male using recombinant‐DNA techniques (1989) (23)
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa. (2007) (23)
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population (2006) (23)
Evaluation of SFRP1 as a candidate for human retinal dystrophies. (2004) (22)
[Recommendations of the Spanish Biliopancreatic Club for the Treatment of Acute Pancreatitis. Consensus development conference]. (2008) (22)
Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability (2015) (22)
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability (2017) (22)
Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors. (2011) (22)
Identification of three novel mutations in the MYO7A gene (1999) (22)
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa (2008) (22)
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned (2015) (22)
Prenatal diagnosis on fetal cells obtained from maternal peripheral blood: Report of 66 cases (1999) (21)
Reasons for and time to retraction of genetics articles published between 1970 and 2018 (2019) (21)
New type of mutations in three spanish families with choroideremia. (2008) (21)
Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity (2016) (21)
Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience (2009) (21)
Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population (2012) (21)
Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation (2020) (20)
Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation. (2014) (20)
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders (2021) (20)
Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects (2017) (20)
Magnetic resonance imaging of the liver: consensus statement from the 1st International Primovist User Meeting (2008) (20)
Overview of Bardet–Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes (2014) (20)
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. (2012) (20)
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement. (2017) (20)
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2) (2000) (20)
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development (2017) (20)
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies (2011) (20)
ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study (2011) (19)
MRI of Crohn’s disease: from imaging to pathology (2012) (19)
Performance of gadoxetic acid MRI and diffusion-weighted imaging for the diagnosis of early recurrence of hepatocellular carcinoma (2019) (19)
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia (2018) (19)
Linkage analysis in Usher syndrome type I (USH1) families from Spain. (1998) (18)
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes (2021) (18)
Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS‐peripherin gene in autosomal dominant macular dystrophies in Spanish families (2001) (18)
BBS 1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome (2012) (18)
Retinal Structure in RPE65-Associated Retinal Dystrophy (2020) (18)
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population. (2014) (17)
Managing Incidental Genomic Findings in Clinical Trials: Fulfillment of the Principle of Justice (2014) (17)
Molecular approach in the study of Alström syndrome: Analysis of ten Spanish families (2012) (17)
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib. (1998) (16)
Novel p.M96T variant of NRL and shRNA‐based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa (2012) (16)
Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child. (2000) (16)
Ring chromosome 6: clinical and cytogenetic behaviour. (1990) (16)
Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases (2016) (16)
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families (2018) (16)
Thermal Ablation for Intrahepatic Cholangiocarcinoma in Cirrhosis: Safety and Efficacy in Non-Surgical Patients. (2020) (16)
Utility of new mature erythrocyte and reticulocyte indices in screening for iron‐deficiency anemia in a pediatric population (2013) (16)
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. (2005) (16)
Three novel RDS‐peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations (1998) (16)
Intra-abdominal Fat Adiponectin Receptors Expression and Cardiovascular Metabolic Risk Factors in Obesity and Diabetes (2006) (16)
Detection of a Paternally Inherited Fetal Mutation in Maternal Plasma by the Use of Automated Sequencing (2006) (15)
Radiological response to nivolumab in patients with hepatocellular carcinoma: A multicenter analysis of real-life practice. (2020) (15)
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene (2019) (15)
Accuracy of MRI to Assess Therapeutic Responses and Mucosal Healing in Crohn's Disease (2011) (15)
Enhanced anti-inflammatory effects of mesenchymal stromal cells mediated by the transient ectopic expression of CXCR4 and IL10 (2021) (15)
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis (2008) (15)
Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online. (1998) (15)
Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation (1999) (15)
Three novel mutations (P215L, T289P, and 3811‐2 A→G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families (2000) (15)
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia (2015) (15)
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix (2020) (15)
Identification of PITX3 mutations in individuals with various ocular developmental defects (2018) (15)
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia (2010) (15)
Identification of a novel R552Q mutation in exon 13 of the β‐subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa (1996) (14)
Prospective evaluation of gadoxetic acid magnetic resonance for the diagnosis of hepatocellular carcinoma in newly detected nodules ≤2 cm in cirrhosis (2019) (14)
Evaluating a newly developed pharmacogenetic array: screening in a Spanish population. (2010) (14)
Somatic stability in chorionic villi samples and other Huntington fetal tissues (1995) (14)
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa (2014) (14)
Novel genes and sex differences in COVID-19 severity (2022) (14)
Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa (2016) (14)
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa (2014) (14)
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti. (2009) (13)
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report (2017) (13)
Is there a role for (99m)Tc-anti-CEA monoclonal antibody imaging in the diagnosis of recurrent colorectal carcinoma? (2003) (13)
Hepatic epithelioid hemangioendothelioma: An international multicenter study. (2020) (13)
High SARS-CoV-2 viral load is associated with a worse clinical outcome of COVID-19 disease (2020) (13)
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity (2020) (13)
Chemoembolization improves survival in patients with unresectable hepatocellular carcinoma (HCC) (2001) (13)
Mutations including the promoter region of myocilin/TIGR gene (2005) (12)
Diagnosis of Hepatic Nodules in Patients at Risk for Hepatocellular Carcinoma: LI-RADS Probability Versus Certainty. (2019) (12)
Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa (1994) (12)
Pharmacodynamic genetic variants related to antipsychotic adverse reactions in healthy volunteers. (2013) (12)
Assignment1 of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridization (2000) (12)
Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain (2014) (11)
Diagnostic value of morphological enhancement patterns in the hepatobiliary phase of gadoxetic acid-enhanced MRI to distinguish focal nodular hyperplasia from hepatocellular adenoma (2021) (11)
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. (2020) (11)
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (2018) (11)
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset (2013) (11)
Molecular evidence of field cancerization initiated by diabetes in colon cancer patients (2019) (11)
1250 Predictors of drop-out and survival of patients with hepatocellular carcinoma candidates for liver transplantation (2003) (11)
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families. (2014) (11)
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies (2021) (10)
Intestinal tuberculosis in AIDS (2005) (10)
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation (2021) (10)
Genotype-phenotype correlations in a Spanish cohort of 506 families with bi-allelic ABCA4 pathogenic variants. (2020) (10)
Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1. (2019) (10)
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3 (2012) (9)
Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid (2000) (9)
Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK. (2019) (9)
G106R rhodopsin mutation is also present in Spanish ADRP patients. (1996) (9)
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis (2020) (9)
Two Non-Contiguous Duplications in the DMD Gene in a Spanish Family (2008) (9)
Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene. (2016) (9)
Guidelines for genetic study of aniridia. (2013) (9)
Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population (2013) (9)
Uncommon tumors and pseudotumoral lesions of the pancreas. (2008) (9)
Diagnosis and treatment of hepatocellular carcinoma. Update of the consensus document of the AEEH, AEC, SEOM, SERAM, SERVEI, and SETH. (2021) (9)
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial. (2020) (9)
Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells (2021) (8)
Screening of the USH1G Gene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome (2007) (8)
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review (2021) (8)
Late onset retinitis pigmentosa. (2011) (8)
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa (2020) (8)
Expanding the Genetic Landscape of Usher-Like Phenotypes. (2019) (8)
Study of the parental origin of sexual aneuploidy in ten families using RFLPs. (1990) (8)
Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation. (2020) (8)
First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online. (1998) (8)
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families (1995) (8)
RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 44 affected patients. (2021) (8)
Limited tumor progression beyond Milan criteria while on the waiting list does not result in unacceptable impairment of survival. (2021) (8)
New approach for the refinement of the location of the X‐chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation (2005) (7)
Diabetes‐mediated promotion of colon mucosa carcinogenesis is associated with mitochondrial dysfunction (2019) (7)
Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510. (2006) (7)
Corrigendum: Characterization of Inflammation and Fibrosis in Crohn’s Disease Lesions by Magnetic Resonance Imaging (2015) (7)
Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism (2003) (7)
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia (2021) (7)
Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa (2000) (7)
Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene. (2016) (7)
Genetics and epidemiology of aniridia: Updated guidelines for genetic study. (2021) (7)
Characterization of a 6p21 translocation breakpoint in a family with idiopathic generalized epilepsy (2003) (7)
Utilidad de la ultrasonografía y la tomografía computarizada en la predicción de la resecabilidad del carcinoma pancreático (1998) (6)
A Recurrent Nonsense Mutation Occurring as a de novo Event in a Patient with Recessive Dystrophic Epidermolysis Bullosa (2011) (6)
Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg. (2017) (6)
Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus. (1992) (6)
[Imaging diagnosis of hepatocellular carcinoma. Addendum to hepatocellular carcinoma: diagnosis, staging and treatment strategies]. (2011) (6)
Does transient arterial-phase respiratory-motion-related artifact impact on diagnostic performance? An intra-patient comparison of extracellular gadolinium versus gadoxetic acid (2020) (6)
Reliability of extracellular contrast vs. gadoxetic acid in assessing small liver lesions using LI-RADS v.2018 and EASL criteria. (2022) (6)
Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz (2016) (6)
A maternal inherited translocation t(1;22)(q11;p11) in two infertile brothers. (2001) (6)
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (2021) (6)
For how long and with what relevance do genetics articles retracted due to research misconduct remain active in the scientific literature (2020) (6)
Prenatal diagnosis of 46, XX male fetus (2006) (6)
Trisomy 2 due to a 3:1 segregation in an abortion studied by QF‐PCR and CGH (2005) (5)
Management and return of incidental genomic findings in clinical trials (2014) (5)
Vaccine breakthrough infections with SARS-CoV-2 Alpha mirror mutations in Delta Plus, Iota, and Omicron (2022) (5)
Successful First Trimester Diagnosis in a Pregnancy at Risk for Propionic Acidaemia (1989) (5)
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases (2021) (5)
Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa. (2007) (5)
[Participant-funded clinical trials on rare diseases]. (2020) (5)
Ética en investigación genética (1). Estudios farmacogenéticos (2011) (5)
Evaluation of LI-RADS 3 category by magnetic resonance in US-detected nodules ≤ 2 cm in cirrhotic patients (2021) (5)
[Diagnosis and treatment of hepatocellular carcinoma]. (2009) (5)
Corrigendum to "Diagnosis and staging of hepatocellular carcinoma (HCC): Current guidelines" [Eur. J. Radiol. 101 (2018) 72-81]. (2019) (5)
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases (2022) (5)
Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group. (2018) (5)
Liver cancer risk after HCV cure in patients with advanced liver disease without non-characterized nodules (2021) (5)
SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations (2022) (4)
A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia (2019) (4)
Towards personalised approach in systemic treatment for hepatocellular carcinoma. The value of AGT M235T gene polymorphism (2018) (4)
Gene symbol: BEST1. Disease: Best macular dystrophy. (2008) (4)
Diagnosis and treatment of hepatocellular carcinoma. Update of the consensus document of the AEEH, AEC, SEOM, SERAM, SERVEI, and SETH (2021) (4)
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies (2022) (4)
Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis. (2009) (4)
[The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis]. (1998) (4)
Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa (2022) (4)
Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs. (1999) (4)
Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene. (2018) (4)
SARS-CoV-2 Point Mutation and Deletion Spectra and Their Association with Different Disease Outcomes (2022) (4)
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19 (2022) (4)
Colon cancer modulation by a diabetic environment: A single institutional experience (2017) (4)
New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3′-UTR, deleting exon 5 of RHO, and causing adRP (2015) (4)
Análisis molecular del gen RPE65 en 72 familias españolas con retinitis pigmentaria autosómica recesiva (2001) (3)
[Evaluation of the efficacy and efficiency of a multidisciplinary unit for the treatment of patients with colorectal cancer]. (2002) (3)
Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. (1996) (3)
[Imaging techniques in hepatocellular carcinoma: diagnosis, extension and evaluation of therapeutic response]. (2010) (3)
Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys. (2019) (3)
Ultrasonography and computed tomography in adrenal myelolipoma. (1991) (3)
Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (2007) (3)
Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials (2021) (3)
Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene (2020) (3)
Patients with relapsed/refractory chronic lymphocytic leukaemia may benefit from inclusion in clinical trials irrespective of the therapy received: a case-control retrospective analsysis (2015) (3)
Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis (2016) (3)
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment (2020) (3)
Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias. (2002) (3)
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (2009) (3)
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia (2022) (3)
Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families (2001) (3)
Pharmacokinetics and pharmacogenetics of sorafenib in patients with hepatocellular carcinoma: Implications for combination trials (2020) (3)
SAT-482-Incidence of hepatocellular carcinoma after hepatitis C cure with DAA in a cohort of patients with advanced liver disease: Results from a prospective screening program (2019) (3)
A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient. (2000) (3)
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis (2020) (3)
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies (2022) (2)
Gene symbol: RP2. (2007) (2)
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (2005) (2)
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X‐linked ocular albinism (2010) (2)
Pancreatic Insufficiency in Patients Under Sorafenib Treatment for Hepatocellular Carcinoma. (2020) (2)
226 EFFICACY AND SAFETY OF SORAFENIB AT LONG TERM IN PATIENTS WITH HEPATOCELLULAR CARCINOMA (HCC): NEED TO SCREEN FOR CARDIOVASCULAR EVENTS AFTER LONG TERM ADMINISTRATION (2010) (2)
[Diagnosis and staging of carcinoma of the pancreas (I)]. (2006) (2)
[The gene responsible for Huntington's disease in Spanish families: its diagnostic value and the relation between trinucleotide expansion and the clinical characteristics]. (1994) (2)
Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy. (2009) (2)
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients (2021) (2)
Mutational Screening of the RP 2 and RPGR Genes in Spanish Families with X-Linked Retinitis Pigmentosa (2006) (2)
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA). (2010) (2)
The “six-and-twelve” score in a prospective cohort of patients with hepatocellular carcinoma treated with trans-arterial chemoembolization following a fixed schedule (2020) (2)
Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa (2016) (2)
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (2007) (2)
Gene symbol: EPM2A. (2007) (2)
[Molecular analysis of the RPE65 gene in 72 Spanish families with autosomal recessive retinitis pigmentosa]. (2001) (2)
[Chediak-Higashi syndrome. A laboratory finding]. (1998) (2)
Reply to Townsend et al. (2013) (2)
Gene symbol: CRB1. (2007) (2)
PS-115-Evaluation of LI-RADS v2018 by magnetic resonance in US-detected nodules < 2 cm in cirrhotics (2019) (2)
Autosomal recessive retinitis pigmentosa in Spain : Evaluation of 4 genes and 2 loci involved in the disease (2012) (2)
Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion. (2016) (2)
The challenges of novel contrast agents for the imaging diagnosis of hepatocellular carcinoma (2013) (2)
645 SERUM CARBONIC ANHYDRASE 9 (CA) IS A VALUABLE BIOMARKER (BM) TO PROFILE PATIENTS WITH HEPATOCELLULAR CARCINOMA (HCC) TREATED WITH SORAFENIB AND PREDICT THEIR OUTCOME (2011) (2)
Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene. (2018) (2)
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients (2022) (2)
Optimization of Survival Prediction in Patients under Sorafenib Treatment: Usefulness of Carbonic Anhydrase IX Baseline and Baseline and Evolutive Angiopoyetin 2 (2016) (2)
OPAI mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Commentary (2008) (2)
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients (2021) (2)
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (2010) (2)
Polymorphic variations in peripherin-RDS gene in the Spanish population. (1995) (2)
[Hospital registry of pancreatic tumors. Experience of the Hospital Clínic in Barcelona (Spain)]. (2004) (2)
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis. (2010) (2)
Androgen receptor polyQ alleles and COVID‐19 severity in men: A replication study (2022) (2)
267 DERMATOLOGIC ADVERSE EVENTS WITHIN THE FIRST 60 DAYS OF SORAFENIB TREATMENT ARE ASSOCIATED WITH BETTER OVERALL SURVIVAL (OS) IN PATIENTS WITH HEPATOCELLULAR CARCINOMA (HCC) (2013) (2)
Gene symbol: CRB1. (2007) (2)
Intention-to-treat curative liver resection in patients with “very early” intrahepatic cholangiocarcinoma (2020) (2)
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome (2022) (2)
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (2010) (2)
Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1. (2018) (2)
[Prenatal diagnosis in a fetus with anencephaly and trisomy 18]. (1985) (2)
Chromosomal Mosaicism for Isochromosome 11q Confined to CVS Direct Preparations (2001) (2)
Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years (2022) (2)
Conclusive HCC diagnosis with hepatocyte-specific contrast-enhanced magnetic resonance imaging? Not yet. (2016) (2)
Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis. (2010) (2)
[Magnetic resonance enterography in Crohn's disease: a new diagnostic tool?]. (2008) (1)
[A clinical, cytogenetic and molecular study of 10 patients with the Prader-Willi syndrome]. (1997) (1)
[DNA markers linked to Huntington's disease (D4S10 and D4S95) in Spanish families: preliminary results]. (1992) (1)
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (2019) (1)
Imaging Techniques in Digestive Diseases (2017) (1)
Hypo- and hypermorphic FOXC1 mutations in dominant primary congenital glaucoma. (2014) (1)
[Possible multiclonal origin in the early steps of the preleukaemic processes (author's transl)]. (1981) (1)
Two-step treatment of large solitary hepatocellular carcinoma (HCC) by arterial embolization followed by ethanol injection (2000) (1)
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (2010) (1)
Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1. (2007) (1)
Enhanced anti-inflammatory effects of mesenchymal stromal cells mediated by the transient ectopic expression of CXCR4 and IL10 (2021) (1)
Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0540. (2006) (1)
Gene symbol: ABCA4. Disease: Stargardt disease 1. (2006) (1)
[Diagnosis of renal carcinoma in acquired cystic renal disease. Usefulness of echography in detection during subclinical phase]. (1991) (1)
Early diarrhoea under sorafenib as a marker to consider the early migration to second‐line drugs (2021) (1)
Erratum: Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle (Human Molecular Genetics (2005) vol. 14 (3865-3875) 10.1093/hmg/ ddi411) (2006) (1)
815 SORAFENIB FOR THE TREATMENT OF ADVANCED HEPATOCELLULAR CARCINOMA. FEASIBILITY AND SAFETY OUTSIDE RESEARCH TRIALS (2009) (1)
273 Usefulness of sonovue microbubble-enhanced ultrasonography in the assessment of the efficacy of percutaneous ablation in patients with hepatocellular carcinoma (2004) (1)
Percutaneous treatment for unresectable hepatocellular carcinoma. Predictors of long-term survival of 274 patients in a single institution (2003) (1)
Gene symbol: ABCA4. Disease: Macular dystrophy. (2008) (1)
[Asp-190-Tyr mutation in the rhodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis]. (2000) (1)
215 A PHASE II OPEN LABEL TRIAL EVALUATING SAFETY AND EFFICACY OF A TELOMERASE PEPTIDE VACCINATION IN PATIENTS WITH ADVANCED HEPATOCELLULAR CARCINOMA (2010) (1)
36. Hepatocellular Carcinoma (2011) (1)
1016 DIAGNOSIS OF HEPATOCELLULAR CARCINOMA (HCC) ≤2 CM: PROSPECTIVE VALIDATION OF GLYPICAN 3, HEAT-SHOCK PROTEIN 70 AND GLUTAMINE SYNTHETASE S TAINING IN BIOPSY SAMPLES (2011) (1)
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (2021) (1)
Guidelines for genetic study of aniridia (2013) (1)
Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family (2000) (1)
Sonographic, Cytogenetic and DNA Analysis in Four 69,XXX Fetuses Diagnosed in the Second Trimester (2000) (1)
Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa (2011) (1)
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (2010) (1)
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts (2021) (1)
Gene symbol: ABCA4. Disease: Macular dystrophy. (2008) (1)
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic. (2010) (1)
[Holt-Oram syndrome: study of 7 cases]. (2010) (1)
Prospective evaluation of gadoxetic-acid MR for the non-invasive diagnosis of hepatocellular carcinoma in newly detected nodules <=2 cm in cirrhotic patients (2018) (1)
Impact of regorafenib in the clinical practice and identification of second-line treatment orphan patients (2018) (1)
Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0534. (2006) (1)
Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy. (2007) (1)
Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia. (2007) (1)
Liver Imaging Reporting and Data System: Review of Pros and Cons (2021) (1)
Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa. (2007) (1)
Gene symbol: NDP. Disease: Norrie disease. (2006) (1)
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538. (2006) (1)
Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile. (2008) (1)
227 CHANGES IN TUMOR BLOOD VOLUME AND PERFUSION ASSESSED PERFUSION COMPUTED TOMOGRAPHY PREDICT THE TIMING OF TUMOR PROGRESSION IN PATIENTS WITH HEPATOCELLULAR CARCINOMA TREATED WITH SORAFENIB (2010) (1)
Endoscopic Ultrasonography in Pancreatic Tumors: When and Why? (2010) (0)
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies (2021) (0)
frequency of large gene deletions demonstrating broader phenotype and high SOX2 anophthalmia syndrome: twelve new cases (2007) (0)
P 370 Exclusion of ROM-1 and recoverin genes in 16 families affected with ADRP (1995) (0)
Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease. (2021) (0)
A model to quantify retinal ganglion cell loss in patients (2018) (0)
Gene symbol: ABCA4. Disease: Macular dystrophy. (2008) (0)
743 APPLICABILITY OF CURATIVE TREATMENTS IN PATIENTS WITH VERY EARLY HEPATOCELLULAR CARCINOMA (BCLC-0). A GROWING NEED IF FOLLOWING PRACTICE GUIDELINES (2012) (0)
Ética en investigación genética (2). Estudios de susceptibilidad (2011) (0)
[Ethics on genetic research (1). Pharmacogenetic studies]. (2011) (0)
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (2007) (0)
Endoscopic Ultrasonography (EUS) vs Magnetic Resonance Cholangiopancreatography (MRCP) in the Diagnosis of Pancreatobiliary Disturbances With and Without Dilated Biliary Tract: Definitive Results of a Prospective, Blinded and Comparative Study (2005) (0)
Identification of a novel mutation in the mevalonate kinase gene associated with retinitis pigmentosa (2015) (0)
[Ethics on genetic research (2). Genetic susceptibility studies]. (2011) (0)
[Pharmacogenetic studies assessment in clinical research: Four issues, four opinions]. (2010) (0)
A Missesne Mutation in the Acetyl-CoA Carboxylase β Gene Involved in Lipid Metabolism is Associated with Autosomal Recessive Retinitis Pigmentosa (2013) (0)
Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online. (1998) (0)
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases (2022) (0)
Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study (2023) (0)
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (2019) (0)
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome (2022) (0)
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia (2023) (0)
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies (2018) (0)
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes (2018) (0)
Acknowledgement to our reviewers (2006) (0)
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks (2022) (0)
Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children (2015) (0)
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity (2022) (0)
A strong inhibitory effect of heather honey, propolis and medicinal plant extracts on biofilm formation by pathogenic bacteria (2021) (0)
TOWARDS A COMPLETE DESIGN OF THE MANOEUVRING AREAS ADDITIONAL FACTORS INVOLVED IN THE DETAILED DESIGN (2018) (0)
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1 (2020) (0)
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (2018) (0)
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies (2018) (0)
Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects (2017) (0)
Exome Sequencing In Individual Patients With Recessive Retinal Degeneration As A Tool For Mutation And Disease Gene Discovery (2012) (0)
A crowdsourcing database for the copy-number variation of the Spanish population (2023) (0)
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. (2023) (0)
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. (2023) (0)
Transarterial-chemoembolization and hepatocellular carcinoma. A regular interval approach avoids the 10% of the procedures and an optimal survival with the transition to systemic therapy in 80% of the patients (2018) (0)
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset (2013) (0)
Gene symbol: CRB1. (2007) (0)
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (2005) (0)
Exome sequencing and subsequent haplotype analysis of a Scottish Cone-Rod patient, homozygous for a common “Spanish” CERKL mutation, points towards a distant common ancestry (2016) (0)
182 Gene edition-mediated deletion of a mutation-containing COL7A1 exon 80 in epidermal stem cells of RDEB patients allows regeneration of normally adhesive skin (2017) (0)
Pancreatic insufficiency related to hepatocellular carcinoma treatment: early detection and treatment improves therapeutic adherence (2017) (0)
[Prenatal diagnosis of hemophilia A by DNA analysis. First experience in Spain]. (1987) (0)
[Diagnosis and staging of carcinoma of the pancreas (II)]. (2006) (0)
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512. (2006) (0)
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (2010) (0)
Gene symbol: BEST1. Disease: Best macular dystrophy. (2008) (0)
Relative preservation of foveal outer retinal structure in infants with AIPL1 associated Leber’s Congenital Amaurosis: implications for gene therapy (2014) (0)
Implication of non-coding PAX6 mutations in aniridia (2018) (0)
121 Magnetic Resonance Is a Reliable Technique for Assessment of Disease Activity and Severity in Colonic Crohn Disease (2008) (0)
The EVI-genoret phenotype / genotype patient data base: a pan-European tool for retinal dystrophies and age related macular degeneration (2007) (0)
Gene symbol: CHM. Disease: Choroideraemia. (2008) (0)
The Use of a Genotyping Microarray in Leber Congenital Amaurosis: Suspected Triallelism (2006) (0)
Clinical Study Novel GUCA 1 A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone , Cone-Rod , and Macular Dystrophy Patients (2014) (0)
Gene symbol: ABCA4. Disease: Macular dystrophy. (2008) (0)
Identification of Two Recurrent Mutations in EYS Present in Autosomal Recessive Retinitis Pigmentosa Patients (2009) (0)
Familiar studies on X linked retinal disorders (1995) (0)
Gene symbol: ABCA4. Disease: Macular dystrophy. (2008) (0)
Gene symbol: CRB1. Disease: early onset retinitis pigmentosa. (2006) (0)
56. A NEW AGE IN PGT-M: A DECADE´S EXPERIENCE AND NEW CHALLENGES TO DEAL WITH (2019) (0)
Contents Vol. 89, 2000 (2000) (0)
Impact of a nurse educational program for patient empowerment during sequential systemic therapy for hepatocellular carcinoma (2020) (0)
Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (2007) (0)
Gene symbol: ABCA4. Disease: Macular dystrophy. (2008) (0)
Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders (2022) (0)
[Partial trisomy 11q;22q (author's transl)]. (1981) (0)
Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia. (2007) (0)
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report (2023) (0)
Retinal measurements in type 2 diabetic patients without diabetic retinopathy using Spectralis Optical coherence tomography (2018) (0)
Chapter 2 Imaging Techniques in Digestive Diseases (2008) (0)
Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa (2018) (0)
[Cytogenetic study in malformed newborns. Evolution during different stages of life (author's transl)]. (1980) (0)
Portal Hypertension may Influence the Registration of Hypointensity of Small Hepatocellular Carcinoma in the Hepatobiliary Phase in Gadoxetic Acid MR (2022) (0)
Gene symbol: ABCA4. Disease: Macular dystrophy. (2008) (0)
Increased risk of liver cancer in cirrhotic patients associated to direct acting antivirals (2018) (0)
[Easing access to all information should be mandatory to medical journals]. (2018) (0)
A rare chromosomal rearrangement in the X-linked opsin gene array is associated with retinal degeneration (2018) (0)
The phenotype of retinal dystrophy in patients with CERKL mutations (2007) (0)
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype (2018) (0)
Visual electrophysiological assessment in birdshot chorioretinitis treated with anti‐TNF‐α (2018) (0)
OF THE 437 CODON OF PFDHPS IN GAMETOCYTES EMERGING AFTER TREATMENT WITH SULFADOXINE-PYRIMETHAMINE , AMODIAQUINE AND THE COMBINATION SP / AQ Makoah (2014) (0)
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (2005) (0)
Association of mutant spectra of SARS-CoV-2 with COVID-19 disease severity (2022) (0)
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (2009) (0)
Increased Expression of Secreted Frizzled Related Proteins Parallels the Extent of Retinal Degeneration in Two Different Mouse Models of Retinitis Pigmentosa (2005) (0)
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (2009) (0)
Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease (2018) (0)
SAT-483-Hepatic epithelioid hemangioendotelioma: An international multicenter study (2019) (0)
Subject Index Vol. 89, 2000 (2000) (0)
Residual Splenic Function After Laparoscopic Splenectomy (2017) (0)
A Nonsense Mutation in CEP250, a Mammalian-Specific Homolog of Rootletin, Causes Usher Syndrome (2014) (0)
Participant-funded clinical trials on rare diseases. (2020) (0)
CRX mutations in patients with phenotypes resembling Stargardt disease (2014) (0)
[Usefulness of ultrasonography and computerized tomography in predicting resectability of pancreatic carcinoma]. (1998) (0)
Mutations in spliceosome-associated protein homolog CWC27 lead to a spectrum of syndromic and nonsydromic retinal degeneration disease (2017) (0)
Analysis of the entire ABCA4 genomic locus in Stargardt disease patients in search for missing mutations (2014) (0)
An updated map of the genomic copy number variants in patients with congenital eye malformations (2009) (0)
Gene symbol: ABCA4. Disease: Macular dystrophy. (2008) (0)
704 ABSENCE OF ARTERIAL HYPERVASCULARIZATION AT CEUS DOES NOT RULE OUT HEPATOCELLULAR CARCINOMA IN NODULES ≤2 CM IN A CIRRHOTIC LIVER (2012) (0)
Gene symbol: BEST1. Disease: Best macular dystrophy. (2008) (0)
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset (2012) (0)
Study of genetic basis of Idiopathic Central Precocious Puberty. (2018) (0)
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. (2009) (0)
Gene symbol: EPM2A. (2007) (0)
High Prevalence Mutations in ALMS1 in Spanish Alström Patients (2020) (0)
Gene symbol: CFTR. Disease: Cystic fibrosis. (2004) (0)
[Patients organizations and new drug approval in the US. Eteplirsen and Duchenne muscular dystrophy case]. (2017) (0)
Computer tomography Imaging findings, clinical spectrum and follow up of patients with right colonic diverticulitis (2013) (0)
Five years’ experience of the clinical exome sequencing in a Spanish single center (2022) (0)
Reply: (2009) (0)
P0390 : Baseline bilirubin and not Child-Pugh a or B7 predicts survival of BCLC B patients treated with sorafenib. The clinical approach to the stratification debate (2015) (0)
High frequency of copy number alterations in patients with congenital eye malformations (2010) (0)
Prevalence, multimodal imaging and genotype-phenotype assessment of trauma related subretinal fibrosis in stargardt disease (2022) (0)
Identification of IMPDHI as the Gene for RP10 Following Microarray Analysis: Implications for Detection of Other Retinal Disease Genes (2002) (0)
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals rare and Hypermorphic Variants in GPATCH3 (2017) (0)
814 EVALUATION OF TUMOR PERFUSION AT COMPUTED TOMOGRAPHY AS A TOOL TO DETECT THE EFFECT OF SORAFENIB TREATMENT IN PATIENTS WITH HEPATOCELLULAR CARCINOMA (HCC) (2009) (0)
No 14 EVIDENCE FOR A REGULATION OF SANS’ SCAFFOLD FUNCTION BY PHOSPHORYLATION (2010) (0)
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537. (2006) (0)
Genetics of dominant retinitis pigmentosa (1992) (0)
Retinosis pigmentaria. Estudio familiar (1994) (0)
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. (2006) (0)
Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa. (2021) (0)
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (2005) (0)
Corrigendum to "Time association between hepatitis C therapy and hepatocellular carcinoma emergence in cirrhosis: Relevance of non-characterized nodules" [J Hepatol (2019) 874-884]. (2020) (0)
P0391 : Prior history of arterial hypertension is not a contraindication to sorafenib and is associated to a better survival in patients with advanced HCC (2015) (0)
Gene symbol: BEST1. Disease: Best macular dystrophy. (2008) (0)
Whole-exome sequencing in patients with STGD (ABCA4)-like phenotypes (2015) (0)
New and emerging ocular biomarkers (2018) (0)
Analysis of Autosomal Dominant and X-Linked Retinitis Pigmentosa Patients on the ADRP and XlRP Genotyping Microarrays (Disease Chips) (2007) (0)
MYOSINE 3A: Genomic Structure, Tissue Expression and Mutation Search in Usher Syndrome (2003) (0)
Gene symbol: EPM2A. (2007) (0)
Retinitis pigmentosa caused by a homozygous inactivating mutation in the Stargardt disease g ene ABCR (2012) (0)
Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile. (2008) (0)
Modeling AIPL1-defect using iPS-derived retinal progenitors from a patient Leber Congenital Amaurosis (2016) (0)
Gene symbol: ABCA4. Disease: Stargardt disease. (2008) (0)
liver imaging r eporting and Data s ystem with M r imaging: Evaluation in Nodules 20 mm or Smaller Detected in Cirrhosis at (2015) (0)
Gene symbol: ABCA4. Disease: Macular dystrophy. (2008) (0)
ILDS Newsletter No. 22 (2011) (0)
P 377 Familiar studies on X linked retinal disorders (1995) (0)
967 ATYPICAL PATTERNS OF HCC ON MRI. ANALYSIS OF FAT, CAPSULE AND SIGNAL INTENSITY (2011) (0)
Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular. (2009) (0)
Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes (2017) (0)
Gene symbol: NDP. Disease: Norrie disease. (2008) (0)
Gene symbol: ABCA4. Disease: Macular dystrophy. (2008) (0)
The Accuracy of the Baseline Peripheral Lymphocyte Value in Predicting Overall Survival in Hepatocellular Carcinoma Patients Treated with Sorafenib Reinforces the Impact of the Immune Response on Tumor Progression (2016) (0)
PSY10 ESTIMATION OF THE COSTS FOR A HEREDITARY HEMOCHROMATOSIS GENETIC SCREENING PROGRAMME PER 100.000 INDIVIDUALS UNDER 30YEARS OF AGE IN SPAIN (2008) (0)
790 INTRAHEPATIC CHOLANGIOCARCINOMA IN CIRRHOTIC LIVER; ROLE OF DELAYED PHASES (2009) (0)
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative (2018) (0)
T1508: Endoscopic Ultrasonography (EUS) and Magnetic Resonance (MR) in the Staging of Rectal Cancer. A Prospective and Comparative Study (2010) (0)
Intergenerational De Novo Spinocerebellar Ataxia 7 CAG Enlargement in a Moroccan Family Detected by Triplet Primed PCR (2017) (0)
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (2005) (0)
Complete Response under Sorafenib Treatment for Hepatocellular Carcinoma is Associated to Development of Dermatology Adverse Events (2016) (0)
[Role of the cytogeneticist in genetic counseling]. (1988) (0)
Novel human pathological mutations (2006) (0)
Functional Analysis of Cyp1b1 Mutations in Spanish Patients With Primary Congenital Glaucoma (2009) (0)
P 371 Cytogenetic studies in retinitis pigmentosa patients (1995) (0)
[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes]. (2000) (0)
ENVIRONMENT, URBAN CULTURE AND BEHAVIOR (1991) (0)
SARS-CoV-2 Point Mutation and Deletion Spectra, and Their Association with Different Disease Outcome (2022) (0)
FRI-461-Thermal ablation is a safe and effective treatment for intrahepatic cholangiocarcinoma in patients with cirrhosis (2019) (0)
Analysis of Autosomal Recessive Retinitis Pigmentosa Patients on the ARRP Genotyping Microarray (Disease Chip) (2006) (0)
[Prenatal cytogenetic diagnosis. Problems and cautions]. (1988) (0)
[Incontinencia pigmenti associated with Klinefelter's syndrome]. (2001) (0)
Transarterial Embolization for Patients with Hepatocellular Carcinoma (2009) (0)
1026 PROGRESSION RATE PROFILE AND RELATIONSHIP WITH SURVIVAL IN PATIENTS WITH HEPATOCELLULAR CARCINOMA TREATED WITH SORAFENIB BEYOND FIRST PROGRESSION (2012) (0)
Cytogenetic studies in Retinitis pigmentosa patients (1995) (0)
New Type of Mutations in the Rep–1 Gene (2006) (0)

This paper list is powered by the following services:

What Schools Are Affiliated With Carmen Ayuso?

Carmen Ayuso is affiliated with the following schools:

Carmen Ayuso's Academic­Influence.com Rankings

Carmen Ayuso's Degrees

Similar Degrees You Can Earn

Why Is Carmen Ayuso Influential?

Carmen Ayuso's Published Works

Published Works

What Schools Are Affiliated With Carmen Ayuso?

Carmen Ayuso's AcademicInfluence.com Rankings