List of works - Antonio Percesepe

A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay

scientific article published on 3 March 2011

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

scientific article published on 3 September 2014

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

scientific article published on 18 February 2014

A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy

scientific article published on 01 March 1997

Age-specific risk of fetal loss post second trimester amniocentesis: analysis of 5043 cases

scientific article published on 01 February 2007

Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa.

scientific article published on 24 April 2015

Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells

scientific article published on 3 June 2013

Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer

scientific article published on 01 January 1997

Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer

scientific article published on 01 September 2001

Clinical features, frequency and prognosis of Dukes' A colorectal carcinoma: A population-based investigation

scientific article published on 01 October 1996

Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study

scientific article published on 24 December 2020

Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination

article

Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement

scientific article published on 01 January 2015

Exome sequencing in a patient with Catel-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate.

scientific article

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

scientific article published on 03 January 2012

Familial Beckwith–Wiedemann syndrome due toCDKN1C mutation manifesting with recurring omphalocele

scientific article published on 01 May 2008

First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness

scientific article published in August 2004

First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family

scientific article published on 21 June 2011

Frequency and clinical features of multiple tumors of the large bowel in the general population and in patients with hereditary colorectal carcinoma

scientific article published on 01 May 1996

Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic

scientific article published in December 2013

Genetic diagnosis in neonatal-onset epilepsies: Back to the future

scientific article published on 16 February 2018

Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts

article

Holoprosencephaly: report of four cases and genotype-phenotype correlations

scientific article published in April 2013

Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report

scientific article

Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

article

Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses.

scientific article

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis

scientific article

K-ras andp53 mutations in hereditary non-polyposis colorectal cancers

scientific article published on 01 February 1997

MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer

scientific article published on 01 March 1998

Methylation pattern of different regions of theMLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer

article

Microsatellite instability in multiple colorectal tumors

scientific article published on 01 March 1999

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

scientific article

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

scientific article

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

scientific article published on 03 April 2017

Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients

scientific article published on 27 June 2014

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type

scientific article

New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.

scientific article published in December 2014

Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases

scientific article published on 01 October 2002

Pre- and post-natal growth in two sisters with 3-M syndrome.

scientific article

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

scientific article

Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester

scientific article published on 30 July 2015

Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues.

scientific article published on 17 August 2010

Pure segmental trisomy 1q42-qter in a boy with a severe phenotype

scientific article published on 01 October 2007

Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe.

scientific article

Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance

scientific article published on 05 November 2020

Reverse phenotyping comes of age

scientific article published on 14 May 2016

Role of clinical criteria in the diagnosis of hereditary non-polyposis colorectal cancer (HNPCC): results of a multivariate analysis.

scientific article

Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration

scientific article published on 08 April 2017

Small bowel carcinoma in hereditary nonpolyposis colorectal cancer

scientific article published on 01 November 1998

Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements

scientific article published on 06 August 2013

The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability

scientific article (publication date: November 1999)

The I1307K polymorphism of the APC gene in colorectal cancer

article

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis

scientific article

The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia

scientific article published on 01 November 2007

Unmasking selective path integration deficits in Alzheimer's disease risk carriers

scientific article published on 28 August 2020

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

scientific article published on 29 December 2016

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

scientific article

List of works by Antonio Percesepe

A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

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 two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy

Age-specific risk of fetal loss post second trimester amniocentesis: analysis of 5043 cases

Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa.

Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells

Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer

Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer

Clinical features, frequency and prognosis of Dukes' A colorectal carcinoma: A population-based investigation

Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study

Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination

Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement

Exome sequencing in a patient with Catel-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate.

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

Familial Beckwith–Wiedemann syndrome due toCDKN1C mutation manifesting with recurring omphalocele

First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness

First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family

Frequency and clinical features of multiple tumors of the large bowel in the general population and in patients with hereditary colorectal carcinoma

Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic

Genetic diagnosis in neonatal-onset epilepsies: Back to the future

Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts

Holoprosencephaly: report of four cases and genotype-phenotype correlations

Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report

Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses.

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis

K-ras andp53 mutations in hereditary non-polyposis colorectal cancers

MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer

Methylation pattern of different regions of theMLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer

Microsatellite instability in multiple colorectal tumors

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

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.

Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type

New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.

Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases

Pre- and post-natal growth in two sisters with 3-M syndrome.

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester

Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues.

Pure segmental trisomy 1q42-qter in a boy with a severe phenotype

Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe.

Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance

Reverse phenotyping comes of age

Role of clinical criteria in the diagnosis of hereditary non-polyposis colorectal cancer (HNPCC): results of a multivariate analysis.

Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration

Small bowel carcinoma in hereditary nonpolyposis colorectal cancer

Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements

The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability

The I1307K polymorphism of the APC gene in colorectal cancer

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis

The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia

Unmasking selective path integration deficits in Alzheimer's disease risk carriers

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

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