Giovanni Neri
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Computer Science
Giovanni Neri's Degrees
- PhD Computer Science University of Milan
- Masters Computer Engineering University of Bologna
- Bachelors Computer Engineering University of Bologna
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(Suggest an Edit or Addition)Giovanni Neri'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
- Molecular alterations of the AKT2 oncogene in ovarian and breast carcinomas (1995) (893)
- Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome (1996) (757)
- Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056 (2011) (582)
- Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome (2006) (551)
- A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability (2007) (366)
- p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. (2001) (346)
- De novo mutations in ATP1A3 cause alternating hemiplegia of childhood (2012) (329)
- Immunoscintigraphic detection of the ED-B domain of fibronectin, a marker of angiogenesis, in patients with cancer. (2003) (298)
- Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. (2012) (275)
- The cardiofaciocutaneous syndrome (2006) (268)
- Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. (2005) (258)
- MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1. (1999) (258)
- Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy (2004) (255)
- The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability (1999) (220)
- Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. (2003) (215)
- Faculty Opinions recommendation of Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. (2009) (211)
- Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility (2012) (210)
- Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain (1997) (208)
- The spectrum of WRN mutations in Werner syndrome patients (2006) (202)
- New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. (1986) (201)
- Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. (2002) (195)
- Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders (2012) (186)
- Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. (1998) (168)
- Elements of morphology: Standard terminology for the head and face (2009) (163)
- Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy (2007) (162)
- Phage antibodies with pan‐species recognition of the oncofoetal angiogenesis marker fibronectin ED‐B domain (1996) (159)
- Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients (2005) (157)
- Oral–facial–digital syndromes: Review and diagnostic guidelines (2007) (150)
- Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion. (1971) (150)
- Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype (2012) (143)
- On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: Genotype–phenotype correlation analysis of 80 patients and literature review (2008) (142)
- Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines (2014) (137)
- Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome (2007) (129)
- Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations (2001) (127)
- A somatic origin of homologous Robertsonian translocations and isochromosomes. (1994) (126)
- Molecular dissection of the events leading to inactivation of the FMR1 gene. (2005) (124)
- Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy (1995) (115)
- Cyclin D1 gene amplification in human laryngeal squamous cell carcinomas: prognostic significance and clinical implications. (1996) (115)
- Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine. (2002) (107)
- Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations. (1986) (106)
- Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome (2007) (106)
- A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. (2003) (101)
- SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations (2011) (100)
- A double‐blind, parallel, multicenter comparison of L‐acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys (2008) (100)
- Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. (1996) (98)
- Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back (2010) (94)
- Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology. (1993) (92)
- A missense mutation in CASK causes FG syndrome in an Italian family. (2009) (88)
- Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations (2008) (87)
- Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments (2005) (87)
- Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. (2008) (86)
- Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer (1997) (85)
- Mesenchymal stromal cells multipotency and plasticity: induction toward the hepatic lineage. (2009) (85)
- A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes. (2005) (85)
- The use of a non-lethal tool for evaluating toxicological hazard of organochlorine contaminants in Mediterranean cetaceans: new data 10 years after the first paper published in MPB. (2003) (85)
- The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation (2013) (84)
- Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development (2014) (83)
- Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells (2007) (81)
- Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders. (2008) (79)
- X‐linked intellectual disability update 2017 (2018) (77)
- Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients (2006) (75)
- Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder (2009) (72)
- CDKN2A germline splicing mutation affecting both p16ink4 and p14arf RNA processing in a melanoma/neurofibroma kindred (2001) (71)
- Biomarkers for endocrine disruptors in three species of Mediterranean large pelagic fish. (2002) (71)
- Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design (2010) (71)
- Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome (2009) (71)
- Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility (1998) (70)
- Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients. (1999) (70)
- Report from the workshop on Pallister-Hall syndrome and related phenotypes. (1996) (69)
- Survival analysis in families affected by hereditary non‐polyposis colorectal cancer (1997) (67)
- The inv dup(15) syndrome (1997) (66)
- Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys (2010) (66)
- Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth (2005) (65)
- Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients (2002) (65)
- Faculty Opinions recommendation of Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. (2003) (65)
- Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis (1999) (64)
- Faculty Opinions recommendation of Down's syndrome suppression of tumour growth and the role of the calcineurin inhibitor DSCR1. (2009) (62)
- The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. (1984) (59)
- Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. (1999) (58)
- The ring 14 syndrome: Clinical and molecular definition (2009) (58)
- Conference report: Fourth International Workshop on the fragile X and X-linked mental retardation. (1988) (58)
- TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype (2012) (56)
- Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype (2001) (55)
- Evaluation of ecotoxicological effects of endocrine disrupters during a four-year survey of the Mediterranean population of swordfish (Xiphias gladius). (2004) (55)
- Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. (2005) (55)
- MLH1 and MSH2 constitutinal mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer (1998) (54)
- Anti-Chemokine Therapy for Inflammatory Diseases (2007) (54)
- A split hand-split foot (SHFM3) gene is located at 10q24-->25. (1996) (54)
- The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes. (1987) (53)
- Infrared photodetection for the in vivo localisation of phage-derived antibodies directed against angiogenic markers. (1999) (53)
- Luteolin inhibits mast cell-mediated allergic inflammation. (2013) (53)
- Skin biopsy of Mediterranean cetaceans for the investigation of interspecies susceptibility to xenobiotic contaminants. (2000) (53)
- Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome (2000) (52)
- A truncating mutation in the IL1RAPL1 gene is responsible for X‐linked mental retardation in the MRX21 family (2006) (52)
- Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. (1993) (51)
- Reproductive risks for translocation carriers: Cytogenetic study and analysis of pregnancy outcome in 58 families (1983) (50)
- Isolation and partial chemical characterization of cell-surface glycopeptides from AS-30D rat hepatoma which possess binding sites for wheat germ agglutinin and concanavalin A. (1973) (50)
- Telomerase activity in human laryngeal squamous cell carcinomas. (1996) (49)
- What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes. (1996) (48)
- Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. (2009) (48)
- Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is independent from DNA methylation and associated to multiple layers of epigenetic modifications. (2006) (46)
- Double-blind, placebo-controlled study of L-acetylcarnitine for the treatment of hyperactive behavior in fragile X syndrome. (1999) (45)
- Solitary median maxillary central incisor syndrome: Clinical case with a novel mutation of sonic hedgehog (2004) (45)
- SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR (2010) (45)
- Significance of linkage disequilibrium between the fragile X locus and its flanking markers. (1996) (44)
- Measurement of Urinary Glycosaminoglycans with Quaternary Ammonium Salts : An Extension of the Method (1972) (43)
- A 45,X male with Y-specific DNA translocated onto chromosome 15. (1987) (43)
- X-Linked Mental Retardation (XLMR): From Clinical Conditions to Cloned Genes (2004) (43)
- The FRAXopathies: Definition, overview, and update (2011) (42)
- ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons (2015) (42)
- A History of Mental Retardation (2019) (42)
- High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. (2007) (42)
- Impact of Mast Cells on the Skin (2013) (41)
- SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis (1999) (41)
- Analysis of 138 consecutive ovarian cancer patients: incidence and characteristics of familial cases. (1990) (41)
- Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation (2008) (41)
- Defective oxytocin function: a clue to understanding the cause of autism? (2009) (40)
- Split‐hand/split‐foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region (2006) (40)
- Skin biopsies for cell cultures from Mediterranean free-ranging cetaceans. (2000) (40)
- Further contribution to the description of phenotypes associated with partial 4q duplication. (1995) (40)
- Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII) (1992) (39)
- Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions (2013) (39)
- Association between cyclin D1 (CCND1) gene amplification and human papillomavirus infection in human laryngeal squamous cell carcinoma. (1998) (39)
- Down syndrome: Comments and reflections on the 50th anniversary of Lejeune's discovery (2009) (39)
- Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes (2015) (39)
- Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p (2013) (38)
- Role of CTCF Protein in Regulating FMR1 Locus Transcription (2013) (37)
- Expansion to full mutation of a FMR1 intermediate allele over two generations (2004) (37)
- The CFC syndrome—report of the first two cases outside the United States (1987) (37)
- Autosomal dominant and sporadic radio-ulnar synostosis. (1997) (37)
- A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome (2004) (37)
- Allergic Inflammation: Role of Cytokines with Special Emphasis on IL-4 (2011) (36)
- The ring 14 syndrome. (2012) (35)
- A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. (2014) (35)
- Prevalence of a novel epileptogenic EEG pattern in the Martin-Bell syndrome. (1988) (34)
- A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes (2017) (34)
- Oral-facial-skeletal syndromes. (1995) (33)
- Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. (1985) (33)
- Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies (1999) (32)
- Wiskott-Aldrich syndrome: report of an autosomal dominant variant. (1996) (32)
- Understanding the biological underpinnings of fragile X syndrome (2003) (32)
- Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients (2007) (32)
- Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions (2012) (31)
- Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients? (2000) (31)
- Duplication of the Rubinstein–Taybi region on 16p13.3 is associated with a distinctive phenotype (2008) (31)
- Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome (2011) (31)
- Electroclinical Patterns and Evolution of Epilepsy in the 4p– Syndrome (2003) (30)
- Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect. (1995) (30)
- A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome (2010) (30)
- A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus (2009) (30)
- Fragile X syndrome (2005) (29)
- Clinical and molecular studies on two further families with Simpson‐Golabi‐Behmel syndrome (2005) (28)
- New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria. (1992) (28)
- MED 1 , a novel human methyl-CpG-binding endonuclease , interacts with DNA mismatch repair protein MLH 1 (1999) (28)
- DNA Methylation in the Diagnosis of Monogenic Diseases (2020) (28)
- Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. (1994) (28)
- Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome (2008) (27)
- Gene for non-specific X-linked mental retardation maps in the pericentromeric region. (1991) (27)
- Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome (2009) (27)
- Dextrocardia with and without situs viscerum inversus in two sibs (1987) (27)
- "C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. (1990) (27)
- Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer (2004) (27)
- Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X‐linked trait (2003) (27)
- Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome. (1992) (27)
- A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings. (1983) (26)
- X-linked mental retardation with marfanoid habitus: first report of four Italian patients. (1991) (26)
- MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions (2007) (26)
- Interleukin-31: a new cytokine involved in inflammation of the skin. (2006) (26)
- Sensorineural deafness in the FG syndrome: report on four new cases. (1984) (26)
- Chromosome 16q, eosinophilia, and leukemia. (1985) (26)
- Autism and intellectual disability: Two sides of the same coin (2012) (25)
- Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation (2012) (25)
- Fragile X mental retardation: prevalence in a group of institutionalized patients in Italy and description of a novel EEG pattern. (1986) (25)
- Limb anomalies: Developmental and evolutionary aspects. (2002) (25)
- A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability (2004) (25)
- Two brothers with 22q13 deletion syndrome and features suggestive of the Clark–Baraitser syndrome (2005) (24)
- Surface properties of normal and neoplastic rat liver cells. Lectin-induced cytoagglutination and lectin receptor activity of cell-surface glycopeptides. (1977) (24)
- Biology of Neurotensin: Revisited Study (2008) (24)
- Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation. (1996) (24)
- Growth delay in Down syndrome and zinc sulphate supplementation. (2005) (23)
- Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements (2004) (23)
- A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy (2008) (23)
- Prognostic significance of ras/p21 alterations in human ovarian cancer. (1997) (23)
- Mast cell involvement in rheumatoid arthritis. (2013) (23)
- Interstitial deletion of chromosome 3p: report of a patient and delineation of a proximal 3p deletion syndrome. (1984) (22)
- Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome† (2016) (22)
- Impact of IL -9 and IL-33 in mast cells. (2012) (22)
- A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15 (1985) (22)
- GD2 CAR T cells against human glioblastoma (2021) (21)
- The Proinflammatory Interleukin-21 Elicits Anti-Tumor Response and Mediates Autoimmunity (2006) (21)
- NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. (2015) (21)
- Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis (2015) (21)
- Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family (2011) (21)
- Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells (2016) (21)
- Circular dichroism and saccharide-induced conformational transitions of lectins from Ricinus communis. (1975) (21)
- Impact and Neuropeptide Substance Pan Inflammatory Compound on Arachidonic Acid Compound Generation (2012) (21)
- Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. (1988) (20)
- CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations (2016) (20)
- Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal (1995) (20)
- A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation (2002) (19)
- Reactivation of silenced genes and transcriptional therapy (2003) (19)
- Intellectual Disability Syndromes (2013) (18)
- Lim Mineralization Protein 3 Induces the Osteogenic Differentiation of Human Amniotic Fluid Stromal Cells through Kruppel-Like Factor-4 Downregulation and Further Bone-Specific Gene Expression (2012) (18)
- Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8 (1995) (18)
- A possible explanation for the low incidence of gonosomal aneuploidy among the offspring of triplo-X individuals. (1984) (17)
- The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome. (2006) (17)
- Simpson‐golabi‐behmel syndrome: An X‐linked encephalo‐tropho‐schisis syndrome (1988) (17)
- The fragile X in Sicily: an epidemiological survey. (1988) (16)
- Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields. (1989) (16)
- Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. (1994) (16)
- Overgrowth syndromes: a classification. (2009) (16)
- Syndromal (and nonsyndromal) forms of male pseudohermaphroditism. (1999) (16)
- Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome (2011) (16)
- The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation (2014) (16)
- A premature infant with Costello syndrome due to a rare G13C HRAS mutation (2009) (16)
- Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene (2020) (14)
- Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 (2007) (14)
- The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro (2012) (14)
- The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12 (2006) (14)
- A girl with the Lujan-Fryns syndrome. (1991) (14)
- No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes (2008) (14)
- Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes (2016) (14)
- Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients (2013) (14)
- Simpson–Golabi–Behmel syndrome type 1 in a 27‐week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia (2012) (13)
- Effect of neuraminidase and papain treatment on lectin-induced agglutination of Novikoff tumor cells and assay of lectin receptor activity of the glycopeptides released from the cell surface by papain. (1976) (13)
- Appearance of a class of cell-surface fucosyl-glycopeptides in differentiated muscle cells in culture. (1980) (13)
- Preparation of parenteral nanocrystal suspensions of etoposide from the excipient free dry state of the drug to enhance in vivo antitumoral properties (2020) (13)
- Multi-trial biomarker approach in Meganyctiphanes norvegica: a potential early indicator of health status of the Mediterranean "whale sanctuary.". (2002) (13)
- Cutis verticis gyrata and chromosomal abnormalities. (1989) (13)
- A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non‐polyposis colorectal cancer (2004) (13)
- Constitutional trisomy 8 mosaicism evolving to primary myelodysplastic syndrome: A new subset of biologically related patients? (1995) (13)
- Pharmacological reactivation of inactive genes: the fragile X experience (2001) (13)
- Biomarkers in Rare Disorders: The Experience with Spinal Muscular Atrophy (2010) (12)
- Sixty years of X-linked mental retardation: a historical footnote. (2000) (12)
- The growth hormone response to hexarelin in patients with Prader-Willi syndrome (1998) (12)
- Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue (2017) (12)
- Linguistic and psychomotor development in children with chromosome 14 deletions (2012) (12)
- Correlation between GJB2 mutations and audiological deficits: personal experience (2009) (12)
- Vitamins and Mast Cells (2010) (12)
- IVIC syndrome: report of a second family. (1988) (12)
- Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force (2017) (12)
- X‐linked intellectual disability: Phenotypic expression in carrier females (2019) (11)
- Properties and significance of a small marker chromosome in amniotic fluid cells (1980) (11)
- Microsatellite instability in Inflammatory Bowel Disease (2000) (11)
- Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements (2012) (11)
- A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age. (2008) (11)
- Sixth international workshop on the fragile X and X-linked mental retardation. (1992) (11)
- Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. (1994) (11)
- DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome (2021) (11)
- Trisomy 21: conference report and 1990 update. (2005) (11)
- Fifth international workshop on fragile X and X-linked mental retardation. (1992) (11)
- Recognizable facial features in patients with alternating hemiplegia of childhood (2016) (10)
- Hereditary Nonpolyposis Colorectal Cancer: An Approach to the Selection of Candidates to Genetic TestingBased on Clinical and MolecularCharacteristics (1999) (10)
- Efficient one-step direct labelling of recombinant antibodies with technetium-99m (1995) (10)
- MOLECULAR APPROACH BY PCR IS THE BEST METHOD TO DETECT THE PRESENCE OF CHLAMYDIA TRACHOMATIS AND TO DEFINE THE TRUE AGENT OF OCULAR BACTERIAL INFLAMMATION (2011) (10)
- New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia. (1992) (9)
- Chromosome instability limited to the aneuploid clone in the Pallister–Killian syndrome: a pitfall in prenatal diagnosis (1999) (9)
- Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population. (2001) (9)
- The Williams syndrome: an Italian collaborative study. (1996) (9)
- The Simpson–Golabi–Behmel syndrome: A clinical case and a detective story (2011) (9)
- White matter and cerebellar involvement in alternating hemiplegia of childhood (2020) (9)
- A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome. (1989) (9)
- Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome. (2016) (9)
- X-linked mental retardation. (2000) (8)
- A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome (2018) (8)
- Cyclin D 1 Gene Amplification in Human Laryngeal Squamous Cell Carcinomas : Prognostic Significance and Clinical Implications (2008) (8)
- Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study (2012) (8)
- Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion (2012) (8)
- Concanavalin A and wheat germ agglutinin receptor activity of sialoglycopeptides isolated from the surface of Novikoff hepatoma cells. (1974) (8)
- Facial midline defect in the fetal alcohol syndrome: embryogenetic considerations in two clinical cases. (1988) (8)
- CFC syndrome (2003) (8)
- Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis (1994) (8)
- Presymptomatic diagnosis of SMA III by genotype analysis. (1993) (8)
- Transitory hypogammaglobulinemia of infancy in FG syndrome (2005) (7)
- P63 mutations in the EEC, Hay-Wells, ADULT syndromes and in split hand/foot malformation reveals a genotype-phenotype correlation. (2000) (7)
- Heterogeneity of cardio-facio-cutaneous syndrome. (2000) (7)
- Historical perspective on developmental concepts and terminology (2013) (7)
- Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families (2020) (7)
- Silent beginning: Early silencing of the MED1/MBD4 gene in colorectal tumorigenesis (2009) (7)
- Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity. (1994) (7)
- The Perlman syndrome: clinical and biological aspects. (1985) (7)
- Membrane in cancer cells (1988) (7)
- Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study (2004) (6)
- The Helena syndromes (2006) (6)
- Chromosomal alterations in the course of viral leukemogenesis in the rat. (1981) (6)
- [Familial Mediterranean fever: an ancient hereditary disease]. (2003) (6)
- Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway. (2007) (6)
- IgE Generation and Mast Cell Activation (2014) (6)
- RANTES (CCL5) potentiates calcium ionophore in the production of LTB4 in rat adherent macrophages from granuloma induced by KMnO4: inhibiton by NDGA. (2008) (6)
- A mother with VCFS and unilateral dysplastic kidney and her fetus with multicystic dysplastic kidneys: additional evidence to support the association of renal malformations and VCFS (5)
- New overgrowth syndrome and FGFR3 dosage effect. (1998) (5)
- Immunoscintigraphic Detection of the EDB Domain of Fibronectin , a Marker of Angiogenesis , in Patients with Cancer 1 (2003) (5)
- The Opitz syndrome (1988) (5)
- A balanced translocation t(4;9) (q35;q12) with a breakpoint within the heterochromatic region of chromosome 9 in a woman with recurrent abortion (1980) (5)
- Tumor Necrosis Factor-Alpha and Mast Cells: Revisited Study (2011) (5)
- Epigenetic modifications of the FMR1 gene. (2013) (5)
- Psychological stress and vitamins. (2011) (5)
- ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities (2017) (5)
- Defining the role of the CGGBP1 protein in FMR1 gene expression (2015) (5)
- 394 Cyclin D1 gene amplification in human laryngeal squamous cell carcinomas: An independent prognostic factor (1995) (5)
- The drastic reduction of SMN protein in SMA I spinal cord motor neurons is not due to inefficient transcription (1999) (4)
- Partial inversion of the secondary constriction of chromosome 9: It exists (2004) (4)
- Induction of CCL2 (MCP-1) BY IL-33 in Human Umbelical Cord Blood Mast Cells (2012) (4)
- New syndrome of mental retardation, Robin sequence, and brachydactyly. (2001) (4)
- Multi-trial biomarker approach in Meganyctiphanes norvegica as an early indicator of health status of the Mediterranean “whale sanctuary”. (2001) (4)
- Identification of key recombinants in multiplex SMA families. (1994) (4)
- Skewed X‐inactivation in carriers establishes linkage in an X‐linked deafness‐mental retardation syndrome (Am J Med Genet 131A: 209–212) (2005) (4)
- Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation (2019) (4)
- Fragile X expression in normal and mentally retarded subjects: effect of treatment with an antifolic agent. (1988) (4)
- Role of cell surface receptor mobility in concanavalin A-induced agglutination of Novikoff hepatoma and normal rat liver cells. (1980) (4)
- Sex reversal from functional disomy of Xp: Prenatal and post‐mortem findings (2008) (4)
- Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia. (2010) (4)
- Measurement of plasma glycosaminoglycans: an extension of the method. (1971) (4)
- Metabolism of glycosaminoglycans in cultured normal and abnormal human fibroblasts. (1971) (4)
- Biomarkers of Exposure and Effects for Assessing Toxicological Risk of Endocrine Disrupters in Top Predators of the Mediterranean Sea (2002) (4)
- Impact of Mast Cells in Rejection of Allografts (2013) (4)
- Nonsyndromal overgrowth in males with mild psychomotor delay. (1998) (4)
- levels in spinal muscular atrophy cells Salbutamol increases SMN mRNA and protein (2008) (3)
- Phenotypic map in ring 14 syndrome (2010) (3)
- Erratum: The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation [EMBO Mol Med, 5, (2013) 1523-1536, DOI: 10.1002/emmm.201302847] (2014) (3)
- Skewed X‐inactivation in carriers establishes linkage in an X‐linked deafness–mental retardation syndrome (2004) (3)
- Re: IVIC syndrome report by Czeizel et al (1989) (3)
- Fragile X Syndrome Screening: A Current Opinion (2000) (3)
- CARDIO‐FACIO‐CUTANEOUS SYNDROME (2010) (3)
- The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases (2014) (3)
- Upregulation of SMN2 gene expression by 4-phenylbutyrate: relevance for a therapeutic approach to spinal muscular atrophy. (2002) (3)
- Kinetics of oxygen uptake in Ehrlich ascites tumour cells treated with rotenone and glucose. (1967) (3)
- Appearance of altered cell-surface fucosyl glycopeptides in concomitance with chromosomal alterations in the gross virus-infected pre-leukemic thymus of the rat. (1983) (3)
- Viral expression, oncogenicity, and antigenicity of a mouse salivary gland tumor and two cell lines derived from it. (1975) (3)
- Purification of pyruvate kinase from Yoshida ascites tumor cells. (1970) (3)
- Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects (2016) (2)
- The Clinical Phenotype of the Fragile X Syndrome and Related Disorders (2017) (2)
- Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: A new syndrome? (2012) (2)
- Reply to “What's in a name? The 22q11.2 deletion” (1997) (2)
- Lack of position effect on the activity of SODCu/Zn gene in subjects with 21/D and 21/G robertsonian translocations (2004) (2)
- The action of crude alpha-amylase from Bacillus subtilis on cartilage glycosaminoglycans. (1971) (2)
- JOURNAL OF BIOLOGICAL REGULATORS & HOMEOSTATIC AGENTS Volume 24, No. 4, October - December, 2010 CONTENTS Editorials (2011) (2)
- Behavior of A Cell Line Derived from A Mouse Submaxillary Adenocarcinoma during the Initial 480 Days in Vitro 1 (1978) (2)
- Concanavalin a and Wheat Germ Agglutinin Receptors in the Ascitic Fluid of Rat Hepatomas 1 (1979) (2)
- A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review. (2016) (2)
- Myotonic dystrophy and chromosome translocation segregating in the same family. (1987) (2)
- Erratum: Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 (Human Genetics (2007) vol. 122 (423-430) 10.1007/ s00439-007-0412-5) (2008) (2)
- Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions. (1996) (2)
- Corrigendum The (2014) (2)
- Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 (2008) (2)
- Overgrowth in myth and art (2021) (1)
- Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma (2020) (1)
- The earliest depictions of a PIK3CA‐Related Overgrowth Spectrum disorder: 17th‐18th century prints of women with severe limb overgrowth (2021) (1)
- [Clinical and molecular study of the Noonan syndrome]. (2012) (1)
- Variations on the theme of how to write a scientific article (2017) (1)
- Encomium and dedication: Angelo Serra--four decades in human and medical genetics. (2005) (1)
- Marina Cammarata 1946–1998 (1999) (1)
- Antagonism of mGluR5 in Fragile X: A Randomized, Placebo-Controlled, Proof-of-Concept Study of AFQ056, a Novel, Sub-Type Selective mGluR5 Antagonist (2011) (1)
- “Minimal” holoprosencephaly in a 14q deletion syndrome patient (2017) (1)
- NEW OVERGROWTH SYNDROME AND FGFR3 DOSAGE EFFECT. AUTHORS' REPLY (1998) (1)
- X-linked mental retardation 3. Proceedings of the Third International Workshop on Fragile X and X-linked Mental Retardation. Troina, Italy, September 13-16, 1987. (1988) (1)
- The perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies (2013) (1)
- No correlation between X chromosome inactivation pattern and autistic spectrum disorders in an Italian cohort of patients (2011) (1)
- A new banding technique of rat (Rattus norvegicus) chromosomes (2008) (1)
- PREVALENCE OF IL-1 β + 3954 AND IL-1 α-889 POLYMORPHISMS IN THE LEBANESE POPULATION AND ITS ASSOCIATION WITH THE SEVERITY OF ADULT CHRONIC PERIODONTITIS (2013) (1)
- Simpson-Golabi-Behmel Syndrome (2019) (1)
- Some questions on the significance of chromosome alterations in leukemias and lymphomas: a review. (1984) (1)
- A theoretical model to evaluate the risk to organochlorine compounds (OCs) in Mediterranean striped dolphin (Stenella coeruleoalba) (2001) (1)
- Dermatological manifestations, management, and care in RASopathies (2022) (1)
- Medical care in Down syndrome. A preventive medicine approach. Pediatric rehabilitation, volume 8. Paul T. Rogers and Mary Coleman Marcel Dekker, Inc. New York, Basel, Hong Kong, 1992 XII+345 pp. (1994) (1)
- Influence of neuraminidase and mitomycin C on the immunogenicity of Novikoff tumor cells (1979) (1)
- Microsatellite instability in non neoplastic colonic mucosa of patients with inflammatory bowel disease (2000) (1)
- Mental retardation, Robin sequence, and brachydactyly: Further confirmation of a new syndrome (2004) (1)
- Perlman syndrome (2019) (1)
- Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locus. (1993) (1)
- Analysis of 138 consecutive ovarian cancer patients: Incidence and characteristics of familial cases (1991) (1)
- Preliminary assessment of ecotoxicological status of a SW Mediterranean segment population of striped dolphin (Stenella coeruleoalba) using skin biopsy (2003) (1)
- Replay to Drs. Jamieson and Collins: Inheritance of the oral‐facial‐digital syndrome (OFDS) type VIII (1993) (1)
- Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family (1996) (1)
- Hyperacetylating agents activate SMN2 gene expression in fibroblast cultures from spinal muscular atrophy (SMA) patients (2002) (0)
- Overgrowth syndromes: A classification. In Endocrine Involvement in Developmental Syndromes (2009) (0)
- Faculty Opinions recommendation of Fragile X mental retardation protein modulates the fate of germline stem cells in Drosophila. (2007) (0)
- Reply to Dr. Lin: Dilated cardiomyopathy in the SGB syndrome (1993) (0)
- Loss of Heterozygosity and Distribution of Alleles at the VNTR Region of the HRAS Gene in Ovarian Carcinoma (1993) (0)
- Faculty Opinions recommendation of Mutations causing syndromic autism define an axis of synaptic pathophysiology. (2011) (0)
- The FG Syndrome from a Pathological Perspective (2011) (0)
- Cell-Surface Glycoproteins of Normal and Malignant Rat Liver Cells (1978) (0)
- Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype (2022) (0)
- Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development (2013) (0)
- Reply of the Authors: 45,X infertile males: not so rare. (2009) (0)
- Theoretical Model for Hazard Assessment to Organoclorine Compounds in Mediterranean Striped Dolphin (2001) (0)
- The cardiofaciocutaneous (CFC) syndrome (2004) (0)
- Epigenetic causes of intellectual disability—the fragile X syndrome paradigm (2017) (0)
- Genetic Counseling in Hereditary Non-Polyposis Colorectal Cancer (1996) (0)
- BIOMARE: a pilot biomarker project for the ecotoxicological assessment of AGIP off-shore activities in the Mediterranean Sea. (2003) (0)
- To the Editor: Concerning Rodriguez et al. (2015) (0)
- Faculty Opinions recommendation of DNMT1 maintains progenitor function in self-renewing somatic tissue. (2010) (0)
- Faculty Opinions recommendation of Germline KRAS mutations cause Noonan syndrome. (2006) (0)
- Faculty Opinions recommendation of A rapid and scalable system for studying gene function in mice using conditional RNA interference. (2011) (0)
- new antigen associated with tumor neovasculature metastases (2008) (0)
- Skin biopsies for cell cultures from free-ranging cetaceans of the Mediterranean Sea (1999) (0)
- Comprar Human Development and Malformations: Evolutionary, Genetic and Morphogenetic Perspectives | John M. Opitz | 9780471235972 | Wiley (2008) (0)
- RET mutation negative familial medullary thyroid carcinoma: four families and literature review (2014) (0)
- Faculty Opinions recommendation of Low frequency of imprinting defects in ICSI children born small for gestational age. (2009) (0)
- Biomarkers for Endocrine Disruptors in the mediterranean top predators bluefin tuna (Thunnus Thynnus thynnus) and swordfish ( Xiphias gladius) (2002) (0)
- A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome (2018) (0)
- The ED-A fibrinogen antigen is associated with neovasculature tumor metastases (2008) (0)
- Reply to Dr. Rivera: Split hand/split foot anomaly and 7q22.1 (1994) (0)
- Ecotoxicological assessment of Mediterranean off-shore platform areas using biomarkers: the BIO-MARE project. (2003) (0)
- Usefulness of fluorescent repeat-primed PCR for the detection of complex variants of CTG repeats associated with myotonic dystrophy type 1 (DM1) not revealed by routine diagnostic PCR techniques (2011) (0)
- Faculty Opinions recommendation of The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome. (2003) (0)
- IVIC syndrome report by Czeizel et al. (1989) (0)
- Prenatal diagnosis by trophoblast sampling (2004) (0)
- Are the Mediterranean top predators threatened by endocrine disruptors (2001) (0)
- Investigación terapéutica: reactivación del gen FMR1 causante del síndrome X frágil (2001) (0)
- Human Development and Malformations: Evolutionary, Genetic and Morphogenetic Perspectives (2008) (0)
- Faculty Opinions recommendation of Screening newborns for inborn errors of metabolism by tandem mass spectrometry. (2003) (0)
- Sébastien Jacquemont Associated with Differential Response to the mGluR 5 Antagonist AFQ 056 Gene in Fragile X Syndrome Is FMR 1 Epigenetic Modification of the (2010) (0)
- Molecular advances, clinical management, and treatment opportunities in RASopathies (2022) (0)
- Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells (2016) (0)
- Faculty Opinions recommendation of Stable C0T-1 repeat RNA is abundant and is associated with euchromatic interphase chromosomes. (2014) (0)
- Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis (2021) (0)
- Introduction to Overgrowth syndromes (1998) (0)
- What Mechanisms Induce Methylation of FMR1 Gene Full Mutation? A Still Unanswered Question (2016) (0)
- Unbalanced cryptic t(1q:12q) translocation in an apparently X-linked syndrome with pachygyria, mental retardation and hypogenitalism (1999) (0)
- Subject Index Vol. 1, 1998 (1999) (0)
- Molecular cytogenetics in the diagnosis of mental retardation in Malta (2009) (0)
- Neural Tube Defects: Prenatal Diagnosis and Genetic Counseling (1989) (0)
- A girl with a 14.7Mb 3q26.32–q28 duplication: a new report of 3q duplication syndrome and a literature review (2016) (0)
- High prevalence of the Rubinstein-Taybi syndrome in a group of mentally retarded, institutionalized subjects (1988) (0)
- [Clinical syndromes with ambiguous genitalia]. (2003) (0)
- Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother (2010) (0)
- Pericentric Inversion of Chromosome 9: A Microdensitometric Study (2008) (0)
- Overlapping Clinical Manifestations with Costello Syndrome (2007) (0)
- Faculty Opinions recommendation of A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. (2013) (0)
- Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme (2021) (0)
- [Experimental therapy: reactivation of the FMR1 gene involved in fragile X syndrome]. (2001) (0)
- Faculty Opinions recommendation of Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. (2004) (0)
- Faculty Opinions recommendation of Negative regulation of neural stem/progenitor cell proliferation by the Pten tumor suppressor gene in vivo. (2002) (0)
- MOLECULAR MARKERS FOR AUTISM EP2294422 (A2) (2011) (0)
- Gene regulation and fetal development : proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3-6, 1993 (1996) (0)
- Faculty Opinions recommendation of Histone deacetylase 4 controls chondrocyte hypertrophy during skeletogenesis. (2004) (0)
- Faculty Opinions recommendation of R-spondin1 is essential in sex determination, skin differentiation and malignancy. (2006) (0)
- Faculty Opinions recommendation of Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (2001) (0)
- [Inv(9)(qh): a risk factor in Down's syndrome]. (1983) (0)
- Faculty Opinions recommendation of Novel features of dFMR1, the Drosophila orthologue of the fragile X mental retardation protein. (2002) (0)
- Miles-Carpenter Syndrome (Mcs) Results From a Mutation in Zc4h2, a Gene Involved in V2 Interneuron Specification Particularly the Generation of Gabaergic Inhibitory Interneurons (2015) (0)
- Mutation spectrum of CBP gene in a cohort of 20 Italian patients with Rubinstein-Taybi syndrome (2005) (0)
- Faculty Opinions recommendation of Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. (2007) (0)
- Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights (2022) (0)
- Response to “Valproic Acid and ADHD Symptoms in Fragile X Syndrome: More Evidence Is Needed” (2010) (0)
- Microsatellite instability in gastric carcinogenesis (2000) (0)
- [2 cases of dicentric Y chromosome]. (1983) (0)
- P01 ANALYTICAL AND CLINICAL EVALUATION OF A NEW THIRD-GENERATION IMMUNOASSAY FOR THYROTROPIN RECEPTOR AUTOANTIBODIES (2009) (0)
- p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation (2000) (0)
- Contents Vol. 1, 1998 (1999) (0)
- A SPLIT HAND/SPLIT FOOT LOCUS MAPS ON CHROMOSOME 10q24-10q25. • 862 (1996) (0)
- Primary non-Hodgkin malignant lymphoma (NHML) of the CNS. A case of radiological and clinical remission (1982) (0)
- Cryptic chromosome anomalies in 43 out of 220 subjects with MCA/MR: suggested diagnostic strategy (2006) (0)
- Long time no see: the Type and Contre-type concept (2010) (0)
- Use of Mediterranean cetacean skin biopsies in the investigation of interspecies susceptibility to xenobiotic contaminants. (1999) (0)
- With gratitude to the anonymous reviewers (1996) (0)
- The Hox-4 genes and the molecular bases of pattern formation (1991) (0)
- Faculty Opinions recommendation of Merkel cells are essential for light-touch responses. (2009) (0)
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What Schools Are Affiliated With Giovanni Neri?
Giovanni Neri is affiliated with the following schools:
