about
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin typeThe DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instabilityInvolvement of MBD4 inactivation in mismatch repair-deficient tumorigenesisPredictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses.Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report.Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement.Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells.A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.Exome sequencing in a patient with Catel-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate.Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa.Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic.Holoprosencephaly: report of four cases and genotype-phenotype correlations.Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues.Role of clinical criteria in the diagnosis of hereditary non-polyposis colorectal cancer (HNPCC): results of a multivariate analysis.Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe.Pre- and post-natal growth in two sisters with 3-M syndrome.Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangementsThe I1307K polymorphism of the APC gene in colorectal cancerIncidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the DiseaseFacioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counsellingMethylation pattern of different regions of theMLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancerSmall bowel carcinoma in hereditary nonpolyposis colorectal cancerClinical features, frequency and prognosis of Dukes' A colorectal carcinoma: A population-based investigationDetection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombinationEarly diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvementFamilial Beckwith–Wiedemann syndrome due toCDKN1C mutation manifesting with recurring omphalocelePure segmental trisomy 1q42-qter in a boy with a severe phenotypeFirst-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafnessMuir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patientsFrequency and clinical features of multiple tumors of the large bowel in the general population and in patients with hereditary colorectal carcinoma
P50
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P50
description
onderzoeker
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researcher
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հետազոտող
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name
Antonio Percesepe
@ast
Antonio Percesepe
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Antonio Percesepe
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Antonio Percesepe
@nl
Antonio Percesepe
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type
label
Antonio Percesepe
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Antonio Percesepe
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Antonio Percesepe
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Antonio Percesepe
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Antonio Percesepe
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prefLabel
Antonio Percesepe
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Antonio Percesepe
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Antonio Percesepe
@es
Antonio Percesepe
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Antonio Percesepe
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P106
P1153
7004275005
P21
P31
P496
0000-0002-3268-6786