Paolo Gasparini
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Italian geneticist
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Molecular Biology
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Biology
Paolo Gasparini's Degrees
- Bachelors Biology University of Milan
- Masters Genetics University of Milan
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(Suggest an Edit or Addition)Paolo Gasparini's Published Works
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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
- Genome-wide association study identifies 74 loci associated with educational attainment (2016) (1114)
- The UK10K project identifies rare variants in health and disease (2015) (926)
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome (2001) (902)
- The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 (2000) (822)
- Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries (2018) (735)
- Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans (2015) (724)
- Genome-wide association analyses identify 18 new loci associated with serum urate concentrations (2012) (678)
- Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (659)
- Connexin-26 mutations in sporadic and inherited sensorineural deafness (1998) (652)
- Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. (1997) (629)
- Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. (2001) (565)
- Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche (2014) (511)
- Rare and low-frequency coding variants alter human adult height (2016) (511)
- Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. (1998) (497)
- Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. (1998) (490)
- A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness (2014) (482)
- Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies (2010) (477)
- Genetic Structure of Europeans: A View from the North–East (2009) (437)
- Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (2011) (424)
- New gene functions in megakaryopoiesis and platelet formation (2011) (423)
- Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences (2019) (421)
- MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion (2006) (397)
- High carrier frequency of the 35delG deafness mutation in European populations (2000) (397)
- Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus (1999) (394)
- Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
- Seventy-five genetic loci influencing the human red blood cell (2012) (357)
- Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder (2001) (350)
- Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine (1994) (344)
- Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. (1997) (342)
- Large-scale genomic analyses link reproductive ageing to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair (2015) (308)
- Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT (1999) (303)
- Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. (2003) (296)
- Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (2014) (260)
- New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. (2001) (255)
- Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. (1999) (255)
- A catalog of genetic loci associated with kidney function from analyses of a million individuals (2019) (252)
- Genome-wide analysis identifies 12 loci influencing human reproductive behavior (2016) (250)
- SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy (2009) (242)
- Heterogeneity of hemochromatosis in Italy. (1998) (241)
- Juvenile hemochromatosis locus maps to chromosome 1q. (1999) (236)
- Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. (2002) (235)
- Population genetic differentiation of height and body mass index across Europe (2015) (224)
- MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. (2001) (216)
- Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. (2001) (211)
- Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins (2000) (211)
- Age- And Sex-Related Variations in Platelet Count in Italy: A Proposal of Reference Ranges Based on 40987 Subjects' Data (2013) (202)
- Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. (2004) (202)
- Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation") (1995) (199)
- Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity (2017) (193)
- Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. (2004) (190)
- Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. (2008) (183)
- Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels (2019) (183)
- Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function (2017) (180)
- Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function (2012) (180)
- Variation in the Bitter‐taste Receptor Gene TAS2R38, and Adiposity in a Genetically Isolated Population in Southern Italy (2008) (177)
- Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene (1999) (176)
- Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers (2015) (168)
- Natural history of juvenile haemochromatosis (2002) (159)
- Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways (2012) (150)
- Meta-analyses identify 13 novel loci associated with age at menopause and highlights DNA repair and immune pathways (2011) (149)
- Directional dominance on stature and cognition in diverse human populations (2015) (144)
- Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). (2004) (140)
- Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. (2001) (134)
- Genetic Variation in Taste Sensitivity to 6‐n‐Propylthiouracil and Its Relationship to Taste Perception and Food Selection (2009) (131)
- Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations (2013) (130)
- Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia (2005) (126)
- Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. (2001) (124)
- Multiple Loci Are Associated with White Blood Cell Phenotypes (2011) (123)
- A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness (2007) (121)
- Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney (2017) (121)
- Linkage of DFNB1 to Non-Syndromic Neurosensory Autosomal-Recessive Deafness in Mediterranean Families (1997) (120)
- Insights into the Binding of Phenyltiocarbamide (PTC) Agonist to Its Target Human TAS2R38 Bitter Receptor (2010) (120)
- Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment (2005) (118)
- Exploring influences on food choice in a large population sample: The Italian Taste project (2017) (114)
- Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits (2017) (110)
- Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. (2003) (108)
- The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. (1991) (107)
- FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. (2008) (107)
- Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset (2019) (105)
- Existence of a genetic risk factor on chromosome 5q in Italian Coeliac Disease families (2001) (103)
- A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. (2018) (100)
- Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders (1997) (98)
- Hearing loss: frequency and functional studies of the most common connexin26 alleles. (2002) (98)
- 52 Genetic Loci Influencing Myocardial Mass. (2016) (98)
- Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. (2000) (97)
- 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function (2017) (95)
- Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus – A GISC study (1999) (94)
- Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids (2019) (93)
- Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. (1997) (92)
- Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). (2004) (90)
- Dating the Origin of the CCR 5D 32 AIDS-Resistance Allele by the Coalescence of Haplotypes (2007) (88)
- Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. (1997) (87)
- The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients (1996) (86)
- Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. (1995) (84)
- Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. (2014) (83)
- Evidence of Inbreeding Depression on Human Height (2012) (81)
- A novel mutation in SACS gene in a family from southern Italy (2004) (80)
- Corrigendum: Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal (2016) (80)
- Osteoporosis in β‐thalassaemia major patients: analysis of the genetic background (2000) (78)
- Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. (2019) (77)
- Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. (1997) (77)
- Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways (2011) (76)
- Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps (2016) (75)
- Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). (1998) (75)
- Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability (2018) (74)
- Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. (2006) (74)
- Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations. (1992) (73)
- A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. (1996) (73)
- Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients (2002) (71)
- Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity (2012) (70)
- Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal (2016) (69)
- Associations of autozygosity with a broad range of human phenotypes (2019) (68)
- Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family. (2003) (68)
- Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. (2012) (67)
- Coarse-Grained/Molecular Mechanics of the TAS2R38 Bitter Taste Receptor: Experimentally-Validated Detailed Structural Prediction of Agonist Binding (2013) (67)
- PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION (2018) (67)
- The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype (2010) (66)
- Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity (2019) (65)
- A saturated map of common genetic variants associated with human height (2022) (65)
- Regulatory evaluation of Glybera in Europe — two committees, one mission (2013) (64)
- Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24. (2000) (64)
- Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation (2005) (63)
- Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution (1997) (63)
- Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice (2013) (61)
- PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity (2018) (61)
- ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE (1989) (60)
- A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern. (2012) (58)
- Heritability and Demographic Analyses in the Large Isolated Population of Val Borbera Suggest Advantages in Mapping Complex Traits Genes (2009) (58)
- Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations (2017) (57)
- A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly (2005) (57)
- Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss (2013) (56)
- Association Analysis of Bitter Receptor Genes in Five Isolated Populations Identifies a Significant Correlation between TAS2R43 Variants and Coffee Liking (2014) (56)
- Transforming Growth Factor‐β1 Gene Polymorphism, Bone Turnover, and Bone Mass in Italian Postmenopausal Women (2000) (56)
- Factors Influencing the Phenotypic Characterization of the Oral Marker, PROP (2017) (55)
- Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma. (2000) (55)
- Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II). (1997) (54)
- Pancreatic function and gene deletion F508 in cystic fibrosis. (1990) (54)
- Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients. (2014) (54)
- Increased Levels of Endothelin-1 in Plasma of Sickle Cell Anemia Patients (1998) (49)
- First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip (2012) (48)
- Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism (1996) (47)
- Genetics of food preferences: a first view from silk road populations. (2012) (46)
- Fixed drug eruptions with feprazone are linked to HLA-B22. (1997) (46)
- Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene (2014) (46)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (45)
- Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results (1999) (44)
- DNA mismatch repair gene MSH6 implicated in determining age at natural menopause (2013) (44)
- SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. (2017) (44)
- Familial Pseudohyperkalemia Maps to the Same Locus as Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis) (1999) (43)
- Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. (1992) (42)
- Genetics of cystic fibrosis. (1991) (42)
- Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway (2018) (42)
- Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene. (1994) (42)
- GOAL: automated Gene Ontology analysis of expression profiles (2004) (42)
- Expression and Replication Studies to Identify New Candidate Genes Involved in Normal Hearing Function (2014) (41)
- SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. (2021) (41)
- Splice‐site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome (1999) (40)
- Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire (2015) (39)
- Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations (2015) (39)
- Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene (1992) (39)
- Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells (2009) (39)
- Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological (2012) (38)
- A Population-Based Approach to Study the Impact of PROP Perception on Food Liking in Populations along the Silk Road (2014) (38)
- Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction (2019) (38)
- Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F. (1993) (37)
- Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms. (1991) (37)
- Understanding the role of personality and alexithymia in food preferences and PROP taste perception (2016) (37)
- Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6 (2018) (37)
- A novel mutation in the mitochondrial tRNAVal gene associated with a complex neurological presentation (1998) (37)
- Osteoporosis in beta-thalassaemia major patients: analysis of the genetic background. (2000) (36)
- Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss (2018) (36)
- An expression atlas of connexin genes in the mouse. (2004) (36)
- Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment (2002) (36)
- Common variants in Mendelian kidney disease genes and their association with renal function. (2013) (35)
- Are MYO1C and MYO1F associated with hearing loss? (2009) (35)
- Genetic homogeneity of lysinuric protein intolerance (1998) (35)
- GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene. (1998) (35)
- Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection (2014) (34)
- Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population (2003) (33)
- Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family (2003) (33)
- Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures (2012) (33)
- Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome. (1999) (33)
- Relationship between clone metrics and clinical outcome in clonal cytopenia. (2021) (32)
- Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss (2015) (32)
- Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? (2009) (32)
- Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). (1999) (32)
- A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. (2014) (32)
- Molecular epidemiology of Usher syndrome in Italy (2011) (31)
- Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population (2008) (31)
- Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis (2019) (31)
- Variation of hemoglobin levels in normal Italian populations from genetic isolates (2008) (30)
- Phospholipase C-β3 Is a Key Modulator of IL-8 Expression in Cystic Fibrosis Bronchial Epithelial Cells (2011) (30)
- Individual differences in prefrontal cortex activity during perception of bitter taste using fNIRS methodology. (2010) (30)
- Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: identification of 90% of the mutations (1995) (30)
- A second locus mapping to 2q35–36 for familial pseudohyperkalaemia (2004) (30)
- D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness (2011) (29)
- GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population (2012) (29)
- Salt-inducible kinase 3, SIK3, is a new gene associated with hearing (2014) (29)
- Amplification of DNA from epithelial cells in urine. (1989) (29)
- A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. (2019) (28)
- Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis (1999) (28)
- Multicohort analysis of the maternal age effect on recombination (2015) (28)
- Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes. (2017) (28)
- Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment (2019) (28)
- Development of RNA‐SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations (1994) (27)
- DHPLC analysis of the MECP2 gene in Italian Rett patients (2001) (27)
- A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. (2014) (27)
- Stability and functional effectiveness of phosphorothioate modified duplex DNA and synthetic 'mini-genes'. (1995) (27)
- Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits (2019) (26)
- Detection of two novel large deletions in SLC3A1 by semi‐quantitative fluorescent multiplex PCR (2000) (26)
- Polymorphisms in sweet taste genes (TAS1R2 and GLUT2), sweet liking, and dental caries prevalence in an adult Italian population (2015) (25)
- Prognostic significance of markers of thrombin generation in the acute and chronic phases of non cardioembolic ischemic stroke. (2000) (25)
- Cystinuria type I: identification of eight new mutations in SLC3A1. (2001) (25)
- De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature. (2012) (25)
- Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment (2001) (25)
- Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine (2016) (25)
- Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color (2021) (24)
- Detection of epidermal thickening in GJB2 carriers with epidermal US. (2009) (24)
- Goldenhar complex: a further case with uncommon associated anomalies. (1997) (24)
- Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population (2011) (24)
- Geographic distribution of CDA-II: did a founder effect operate in Southern Italy? (2000) (24)
- Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort. (2013) (23)
- Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region. (1996) (23)
- Identification of a Novel Mutation in the Myosin VIIA Motor Domain in a Family with Autosomal Dominant Hearing Loss (DFNA11) (2006) (23)
- Age-related hearing loss in four Italian genetic isolates: An epidemiological study (2009) (23)
- Five new OTOF gene mutations and auditory neuropathy. (2010) (22)
- A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman (2016) (22)
- Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases. (1993) (22)
- Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations (2008) (22)
- A bird’s-eye view of Italian genomic variation through whole-genome sequencing (2019) (22)
- Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption (2016) (22)
- A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families (2002) (22)
- Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
- Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes. (2003) (21)
- Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation (2001) (21)
- Genetic landscape of populations along the Silk Road: admixture and migration patterns (2014) (21)
- Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21. (2000) (21)
- Genetic structure in the Sherpa and neighboring Nepalese populations (2017) (21)
- A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. (1998) (21)
- LTF and DEFB1 polymorphisms are associated with susceptibility toward chronic periodontitis development. (2017) (21)
- Organo-silane coated substrates for DNA purification (2011) (21)
- Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature (2012) (21)
- Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations (2018) (21)
- Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection (2018) (21)
- Increased Rate of Deleterious Variants in Long Runs of Homozygosity of an Inbred Population from Qatar (2015) (20)
- Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss (2018) (20)
- Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss (2019) (20)
- Evidence of Linkage between Susceptibility to Multiple Sclerosis and HLA-Class II Loci in Italian Multiplex Families (1995) (20)
- A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family (2003) (20)
- Nanotechnologies and microchips in genetic diseases. (2003) (20)
- Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: Their incidence and clinical features of defined genotypes (1993) (20)
- Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar (2015) (20)
- Mutation analysis in cystic fibrosis (II) (1990) (20)
- Analysis of 14 cystic fibrosis mutations in five South European populations (1991) (19)
- Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis. (1997) (19)
- Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. (2017) (19)
- The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype (2010) (19)
- Frequency distribution of the alleles of several variable number of tandem repeat DNA polymorphisms in the Italian population. (1990) (18)
- Bone marrow transplantation monitoring by DNA analysis. (1989) (18)
- A Brief Review of Genetic Approaches to the Study of Food Preferences: Current Knowledge and Future Directions (2019) (18)
- IBS clinical management in Italy: The AIGO survey. (2019) (18)
- Genetic heterogeneity of congenital dyserythropoietic anemia type II. (1998) (18)
- A Genome-Wide Association Study in isolated populations reveals new genes associated to common food likings (2016) (18)
- Genomic structure and organization of the human rBAT gene (SLC3A1). (1996) (17)
- Frequency of hearing loss in a series of rural communities of five developing countries located along the Silk Road (2011) (17)
- Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant (1995) (17)
- Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. (1998) (17)
- Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus (2004) (17)
- Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (17)
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- TBL1Y: a new gene involved in syndromic hearing loss (2018) (15)
- Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique (2021) (15)
- Genetic analysis of over one million people identifies 535 novel loci for blood pressure (2017) (14)
- Consanguinity and Hereditary Hearing Loss in Qatar (2014) (14)
- Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C (2020) (14)
- Genome Wide Association Analysis of a Founder Population Identified TAF3 as a Gene for MCHC in Humans (2013) (14)
- Genetic analysis of Italian patients with congenital tufting enteropathy (2015) (14)
- A tetranucleotide repeat polymorphism in the cystic fibrosis gene (1991) (14)
- TAS2R38 bitter taste genotype is associated with complementary feeding behavior in infants (2019) (14)
- Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking (2015) (13)
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- Analysis of functional variants reveals new candidate genes associated with alexithymia (2015) (11)
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- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (10)
- The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients (1994) (10)
- Leigh syndrome transmitted by uniparental disomy of chromosome 9 (1999) (10)
- Insight into genetic determinants of resting heart rate. (2014) (10)
- A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family (2003) (10)
- The p.Cys169Tyr variant of connexin 26 is not a polymorphism (2015) (10)
- Assessment of the Olfactory Function in Italian Patients with Type 3 von Willebrand Disease Caused by a Homozygous 253 Kb Deletion Involving VWF and TMEM16B/ANO2 (2015) (10)
- Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche DTU Orbit (05/11/2017) (2014) (10)
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- Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations (2011) (9)
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- Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? (2019) (9)
- Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss (2010) (9)
- Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. (2010) (9)
- HIGH CARRIER FREQUENCY OF THE 35DELG MUTATION IN EUROPEAN POPULATIONS (2000) (9)
- BCR breakpoint subregions and blast crisis lineage in CML patients. (1992) (9)
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- Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation (2005) (9)
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- Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits : (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x) (2018) (8)
- Genes transcriptionally modulated by interferon alpha2a correlate with the cytokine activity. (2004) (8)
- A benign form of thalassaemia intermedia may be determined by the interaction of triplicated alpha locus and heterozygous beta-thalassaemia. (1987) (8)
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- Large-scale GWAS of food liking reveals genetic determinants and genetic correlations with distinct neurophysiological traits (2022) (7)
- Combined influence of TAS2R38 genotype and PROP phenotype on the intensity of basic tastes, astringency and pungency in the Italian taste project (2022) (7)
- Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations (2016) (7)
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- Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome (2012) (7)
- Discovering patterns of pleiotropy in genome-wide association studies (2018) (7)
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- Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families: Otoesclerosis: exclusión de enlaces entre los loci OTSC1 y OTSC2 en cuatro familias italianas (2003) (7)
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- Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization (1996) (6)
- Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency (1990) (6)
- Dietary Macronutrient Composition in Relation to Circulating HDL and Non-HDL Cholesterol: A Federated Individual-Level Analysis of Cross-Sectional Data from Adolescents and Adults in 8 European Studies. (2021) (6)
- International workshop on molecular genetics of haemochromatosis, held at Villa Feltrinelli, Gargnano (Bs), Italy, 25 September 1994. (1995) (6)
- An assessment of chimeric transcript detection in CML patients after bone marrow transplantation. (1991) (6)
- New age-related hearing loss candidate genes in humans: an ongoing challenge. (2020) (6)
- Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss (2019) (6)
- A population-based approach for gene prioritization in understanding complex traits (2020) (6)
- Lifestyle and normal hearing function in Italy and Central Asia: The potential role of coffee (2013) (6)
- De novo 6.9 Mb interstitial deletion on chromosome 4q31.1‐q32.1 in a girl with severe speech delay and dysmorphic features (2012) (6)
- The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge (2022) (6)
- Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization. (1997) (5)
- Distribution of Ha-RAS-1 proto-oncogene alleles in breast cancer patients and in a control population (1988) (5)
- Genetic analysis and pancreatic function in cystic fibrosis (1990) (5)
- Capsule endoscopy of the small bowel in the clinical practice: outpatient management is feasible and cheaper. (2010) (5)
- Polymorphism of Motilin Gene in Patients with Crohn's Disease (1998) (5)
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- Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA (2013) (5)
- Confirmation of Kapur-Toriello syndrome in an Italian patient. (1999) (5)
- Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field complex. (1997) (5)
- 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference (2017) (5)
- Connexin 26 gene: Defining the role of the V1531 mutation (2007) (5)
- Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism. (2013) (4)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (4)
- Association of LTA gene haploblock with periodontal disease in Italian adults (2018) (4)
- Hunting the Hemochromatosis Gene: Progress and Problems (1994) (4)
- Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity (2020) (4)
- Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals (2022) (4)
- Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations (1989) (4)
- Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22) (1998) (4)
- UEG Week 2016 Poster Presentations (2016) (4)
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- Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families (1990) (4)
- Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome (2012) (4)
- PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss (2015) (4)
- Hereditary hemochromatosis: Is the gene race over? (2004) (4)
- Molecular testing for the study of non-syndromic hearing loss (2020) (4)
- Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model. (1995) (4)
- Age related hearing loss and level of education: An epidemiological study on a large cohort of isolated populations (2014) (3)
- Erratum to: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps : (Nature Genetics, (2016), 48, 11, (1303-1312), 10.1038/ng.3668) (2018) (3)
- Identification of a new splicing mutation (406‐1 G‐C) in the CFTR gene (1992) (3)
- The Role of Knockout Olfactory Receptor Genes in Odor Discrimination (2021) (3)
- Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss. (2021) (3)
- A frequent polymorphism in the 5' region of the BCMA gene. (1997) (3)
- Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies. (2022) (3)
- Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia. (1999) (3)
- [Spontaneous association of a chronic lympho- and myeloproliferative disease in the same patient. Description of 2 cases]. (1988) (3)
- Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates (2021) (3)
- A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family (2011) (3)
- A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature (2011) (2)
- New polymorphisms and markers in the HLA class I region: relevance to hereditary hemochromatosis (HFE) (1995) (2)
- Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability (2019) (2)
- There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss (2021) (2)
- Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney (2017) (2)
- Correction: Genetic Structure of Europeans: A View from the North–East (2010) (2)
- Molecular and clinical studies in hemochromatosis type 2 and 3 (2000) (2)
- Genetics, odor perception and food liking: the intriguing role of cinnamon (2021) (2)
- Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. (1998) (2)
- Purging of deleterious variants in Italian founder populations with extended autozygosity (2015) (2)
- Deleterious variants in genes associated with bone mineral density are linked to susceptibility to periodontitis development (2020) (2)
- Large-scale genome-wide association study of food liking reveals genetic determinants and genetic correlations with distinct neurophysiological traits (2021) (2)
- Sensory Capacities and Eating Behavior: Intriguing Results from a Large Cohort of Italian Individuals (2022) (2)
- Search of HIV DNA by polymerase chain reaction in the urine sediments of seropositive individuals. (1990) (2)
- P.07.2 SMALL BOWEL CAPSULE ENDOSCOPY (SBCE) COMPLICATIONS: FREQUENCY, MANAGEMENT AND POLICY TO PREVENT THEM. PROSPECTIVE DATA FROMA REGIONAL REGISTRY (REGISTRO LOMBARDO DELLE COMPLICANZE) (2013) (2)
- Two mosaic‐YY males carrying asymmetric Y chromosomes (1997) (2)
- No HFE, no HLA, no 6p-linked adult hemochromatosis: A new genetic iron overload condition (1998) (2)
- A new complex polymorphic repeat close to the HLA-A and HLA-E loci (1994) (2)
- Allelic association of microsatellites of 6p in Italian hemochromatosis patients (1996) (2)
- Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia. (2005) (2)
- Screening of the C282Y mutation in the HFE gene in Italy by Taqman technology. (1999) (2)
- Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype (2010) (2)
- SEX DIFFERENCE IN D7S8 MARKER ALLELE DISTRIBUTION IN ADULT CYSTIC FIBROSIS PATIENTS (1989) (2)
- A recombination event close to HFE gene in hereditary hemochromatosis. (1997) (2)
- Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus (2022) (2)
- Different suppression of Ph1 positive hemopoiesis induced by intensive chemotherapy in lymphoid and myeloid blast crisis of CML. (1991) (2)
- The natural history of hemochromatosis type 2. (2001) (2)
- Genetic Dissection of Temperament Personality Traits in Italian Isolates (2021) (2)
- Cytogenetic and molecular analysis of trisomy 9. Case report and review. (1994) (2)
- Altered Taste Function in Young Individuals With Type 1 Diabetes (2022) (2)
- Identification of a new DNA polymorphism tightly linked to DQ-alpha locus. (1993) (1)
- [Juvenile myocardial infarct. A description of 2 cases occurring before 20 years of age and a review of the literature]. (1989) (1)
- Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent. (1995) (1)
- TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition (2022) (1)
- Pancreatic function andgene deletion F508in (1990) (1)
- In vitro amplification of hypervariable DNA regions for the evaluation of chimerism after allogeneic bone marrow transplantation (1993) (1)
- Mutations in transferrin receptor-2 in hemochromatosis type 3. (2000) (1)
- Title 1 Mutations in L-type amino acid transporter-2 support SLC 7 A 8 as a novel gene involved 2 in Age-Related Hearing Loss (2018) (1)
- Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder (2022) (1)
- Delayed Diagnosis of Glycogen Storage Disease Type III (2012) (1)
- The Role Of Personality Traits On Taste Perception and Food Preferences. (2013) (1)
- Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population. (1992) (1)
- Myocylin Gln368stop Mutation and Advanced Age as Risk Factors for Late-Onset Primary Open-Angle Glaucoma (2000) (1)
- Supplementary Material for: Increased Rate of Deleterious Variants in Long Runs of Homozygosity of an Inbred Population from Qatar (2017) (1)
- Linkage analysis in two large Italian pedigrees affected with nail patella syndrome (1998) (1)
- Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps (2018) (1)
- DNA Amplification (PCR) of Several Hypervariable Loci in Disputed Paternity Cases (1991) (1)
- DNA polymorphism in the human motilin gene in inflammatory bowel disease (1997) (1)
- Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity (2015) (1)
- Systematic analysis of factors that improve HDR efficiency in CRISPR / Cas9 technique (2020) (1)
- Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity (2018) (1)
- Exclusion of chromosome region 22q12.1-q12.3 as a second locus for Costello syndrome. (2006) (1)
- Exome-chip meta-analysis identifies novel loci, including ADAMTS6 associated with cardiac conduction (2018) (1)
- VIDEO CAPSULE ENDOSCOPY IN THE SMALL BOWEL DISEASES: LOOKING FOR ITS CORRECT EMPLOYMENT IN CLINICAL PRACTICE (2009) (1)
- Non-HFE hemochromatosis: insights into regulation on iron metabolisms from novel iron loading disorders. (2000) (1)
- Ha ras haplotypes differences between peripheral blood leukocytes and tumor tissue in human breast cancer (1987) (1)
- Genome-wide scan in Italian isolated populations identify loci for food preferences. (2011) (0)
- Algorithm for the management of portal vein thrombosis: a prospective study in patients with liver cirrhosis (2011) (0)
- Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction (2023) (0)
- Genome-wide association and functional follow-up reveals new loci for kidney function | NOVA. The University of Newcastle's Digital Repository (2012) (0)
- Contents Vol. 50, 2016 (2016) (0)
- A mutation in the iron responsive element of ferritin L-subunit gene is associated with the recently described ''hereditary hyperferritinemia-cataract syndrome''. (1995) (0)
- PLCB3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells (2014) (0)
- Gene expression profile and paediatric autoimmune diseases: pharmacogenetics aspects (2003) (0)
- P.10.3: Mortality in Upper Gastrointestinal Bleeding in Italy: Data from National Survey (2017) (0)
- Myocylin Gln 368 stop Mutation and Advanced Age as Risk Factors for Late-Onset Primary Open-Angle Glaucoma (2000) (0)
- HAPTER 2 FASTKD 2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency (2010) (0)
- Distribution of alleles of a polymorphic locus closely associated with cystic fibrosis in the Italian population: a preliminary report (1987) (0)
- New Insights on Congenital Dyserythropoietic Anemia Type II (1999) (0)
- P.19.5 SMALL BOWEL CAPSULE ENDOSCOPY IN CLINICAL PRACTICE: PROSPECTIVE DATA FROM A REGIONAL REGISTRY 2011–2012 (REGISTRO LOMBARDO DELLE COMPLICANZE) (2014) (0)
- P.02.4 DIAGNOSTIC YIELD, PRACTICAL ISSUES AND SAFETY OF SMALL BOWEL CAPSULE ENDOSCOPY IN CLINICAL PRACTICE: PROSPECTIVE DATA FROM A REGIONAL REGISTRY (2012) (0)
- Mutations in GJB2, GJB6 and mDNA 1555A>G variant explain only a minority of cases of nonsyndromic hearing loss in the Qatari population (2010) (0)
- OC.11.5 TRIGGER AND TARGET TRANSFUSION STRATEGY IN PATIENTS WITH NON-VARICEAL ACUTE UPPER GASTROINTESTINAL BLEEDING (NV-AUGIB): A PROSPECTIVE MULTICENTRE OBSERVATIONAL STUDY (2019) (0)
- P.10.9: Outpatient Management of Patients with Glasgow-Blatchford Bleeding Score Low-Risk Upper-Gastrointestinal Hemorrhage: A Multicenter Validation Study in Italy (2017) (0)
- Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population (2022) (0)
- Targeted Next-Generation Sequencing for Molecular Diagnosis of Non-Syndromic Hearing Loss in Qatar (2016) (0)
- [Polycythemia vera and hemoregulator hormones. Considerations on an unusual clinical case]. (1990) (0)
- Genome-wide association analysis on normal hearing function identifies PCDH 20 and SLC 28 A (2016) (0)
- Y chromosome variation and complex traits: the Ygen consortium (2015) (0)
- pseudohyperkalemia, and perinatal edema maps to 16q23-q24 Pleiotropic syndrome of dehydrated hereditary stomatocytosis, (2013) (0)
- UK 10 K Consortium (2019) (0)
- Genetics of hearing loss (from congenital forms to presbycusis) (2011) (0)
- Contents Vol. 77, 2014 (2014) (0)
- Dehydrated hereditary stomatocytosis revisited (1998) (0)
- Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability (2021) (0)
- "Scanning the first part of NF1 gene by RNA-SSCP: identification of three novel mutations and two polymorphisms" (1996) (0)
- A bird's eye view of Italian genomic variation and deleterious variants pattern (2020) (0)
- Method and probes for genetic diagnosis of hemochromatosis. (2001) (0)
- High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis (2022) (0)
- Next-generation sequencing identi fi ed SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss (2018) (0)
- A comparative analysis of different membranes in DNA transfer and hybridization procedures (1988) (0)
- PO.19 CLINICAL AUDIT OF MANAGEMENT OF DIGESTIVE BLEEDING RELATED TO PORTAL HYPERTENSION IN CIRRHOTIC PATIENTS IN NON ACADEMIC HOSPITAL (2008) (0)
- Transfusion strategy and death risk in patients with acute non variceal upper gastro intestinal bleeding (nv-ugib) in italy : a prospective multicenter observational study (2016) (0)
- Eating disinhibition and food liking are influenced by variants in CAV1 (caveolin 1) gene (2021) (0)
- Author ' s personal copy D 184 E MUTATION IN AQUAPORIN-4 GENE IMPAIRS WATER PERMEABILITY AND LINKS TO DEAFNESS (2011) (0)
- Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine (2016) (0)
- Genetic variation in taste perception and its role in food liking and health status (2014) (0)
- The genetic basis of cystinuria (1997) (0)
- Nutritional management in acute pancreatitis in tertiary hospital (2006) (0)
- P.15.8 POOR OUTCOME FROM ACUTE UPPER GASTROINTESTINAL BLEEDING IN PATIENTS WITH LIVER CIRRHOSIS: A PROSPECTIVE MULTICENTER OBSERVATIONAL STUDY (2016) (0)
- Correction: Expression and Replication Studies to Identify New Candidate Genes Involved in Normal Hearing Function (2014) (0)
- La cystinurie-lysinurie, progress recents (1997) (0)
- The importance of starting materials: quality and regulatory considerations for cell-based therapies (2021) (0)
- Hereditary dehydrated stomatocytosis: recent advances and questions (1998) (0)
- [Diagnosis of hereditary hemochromatosis with molecular analysis of DNA in patients with anti-HCV positive liver cirrhosis. Clinical case]. (1998) (0)
- P.10.8: Mortality from Acute Upper Gastrointestinal Bleeding (UGIB): The Role of the Organizational and Health Care Course: A Prospective Multicentre Observational Study in Italy (2017) (0)
- Analisis of HLA-H mutations in italian patients with genetic hemochromatosis: Evidence of genetic heterogeneity (1997) (0)
- Sweat chloride concentration in cystic fibrosis patients varies with KM.19 genotype but not with the presence of the common F508 deletion. (1991) (0)
- OC.06.9 IRRITABLE BOWEL SYNDROME: RESULTS OF AIGO SURVEY 2014–2015 (2016) (0)
- [Myocardial infarct following a negative maximal exercise test: apropos of a case]. (1990) (0)
- P.15.3 INCREASED PERFORMANCE OF AN UPDATED ROCKALL SCORE IN ACUTE NON VARICEAL UPPER GASTRO INTESTINAL BLEEDING: A PROSPECTIVE MULTICENTRE ITALIAN STUDY (2016) (0)
- Oral session 15—Multiple sclerosis (3) (2005) (0)
- Lack of Bauhinia forficata effect on sperm motility and redox status of diabetic mouse (2017) (0)
- Genetic characterization of two North Italian villages: A story of isolation, ancient admixture, and genetic drift (2022) (0)
- PLCB3 cooperates with the Toll-like receptors' signaling cascade enhancing P.aeruginosa-dependent IL-8 expression in bronchial epithelial cells (2011) (0)
- Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire (2015) (0)
- 43rd European Mathematical Genetics Meeting (EMGM) 2015. April 16-17, 2015, Brest, France: Abstracts (2015) (0)
- Genetics of Taste and Food Preferences in Communities Along the Silk Road (2012) (0)
- [Primary thrombocythemia in a female carrier of IgA deficiency]. (1996) (0)
- A population-based approach for gene prioritization in understanding complex traits (2020) (0)
- OC.10.3 SMALL BOWEL CAPSULE ENDOSCOPY (SBCE) IN THE ELDERLY. A MULTICENTER PROSPECTIVE STUDY (2013) (0)
- A “population-based approach” to study the link between TAS2R genes, taste perception and food liking. (2013) (0)
- Molecular Pathogenesis of Hemochromatosis (1996) (0)
- Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss (2015) (0)
- Joint data analysis in nutritional epidemiology (2018) (0)
- Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study) (2022) (0)
- New Hereditary Hearing Loss (hhl) Genes/mutations Identified By High Throughput Technologies In The Qatari Population (2014) (0)
- P.10.10: Mortality Causes from Acute Upper Gastrointestinal Bleeding: A Prospective Multicentre Observational Study (2017) (0)
- Polymorphisms in sweet taste genes (TAS1R2 and GLUT2), sweet liking, and dental caries prevalence in an adult Italian population (2015) (0)
- TAS2R38 bitter taste genotype is associated with complementary feeding behavior in infants (2019) (0)
- Methods and probes for the diagnosis of hemochromatosis (2001) (0)
- Use of DNA probe in paternity determination (1989) (0)
- Hemochromatosis: The clinical impact of molecular genetics (1997) (0)
- Circular RNAs Could Encode Unique Proteins and Affect Cancer Pathways (2023) (0)
- Two polymorphic repeats in the candidate region for the haemochromatosis gene. (1996) (0)
- Analysis of microsatellites markers for linkage studies of genetic deafness (1997) (0)
- The Meaning of Food Preferences in the Human Behaviour and Personalities. (2012) (0)
- OC.14.2 PREDICTIVE FACTORS OF MORTALITY IN ACUTE GASTROINTESTINAL BLEEDING IN ITALY (AUGIB): A NEW PRE-ENDOSCOPY PROGNOSTIC MODEL FROM A MULTICENTER STUDY (2018) (0)
- hemochromatosis Spectrum of hemojuvelin gene mutations in 1q-linked juvenile (2013) (0)
- Cystic fibrosis: A multiplex and automatic mutations assay for diagnosis and screening (1997) (0)
- Supplementary Material for: Caries and Innate Immunity: DEFB1 Gene Polymorphisms and Caries Susceptibility in Genetic Isolates from North-Eastern Italy (2016) (0)
- Impact of cultural and genetic structure on food choices along the Silk Road. (2022) (0)
- P.10.1: Transfusion Strategy and Death Risk in Patients with Acute Non-Variceal Upper Gastro Intestinal Bleeding (NV-UGIB) in Italy: A Prospective Multicenter Observational Study (2016) (0)
- [Clinical case. Paraparesis]. (1989) (0)
- Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features (2015) (0)
- New Insights on Congenital Dyserithropoietic Anemia Type II (1999) (0)
- 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference (2017) (0)
- Genetic landscape of populations along the Silk Road: admixture and migration patterns (2014) (0)
- fibrosis . to the clinical course of cystic DNA marker , MP 6 d-9 , is related The genotype of a new linked and (2004) (0)
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What Schools Are Affiliated With Paolo Gasparini?
Paolo Gasparini is affiliated with the following schools:
