Lista de obras - Antonio Percesepe - Dominio Público Uruguay

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2001

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

artículo científico publicado en 1996

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2004

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

artículo científico publicado en 2011

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

artículo científico publicado en 1996

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2009

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis

artículo científico publicado en 2015

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

artículo científico publicado en 1997

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

artículo científico publicado en 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

artículo científico publicado en 1999

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2020

Reverse phenotyping comes of age

artículo científico publicado en 2016

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

artículo científico publicado en 1994

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

artículo científico publicado en 2017

Small bowel carcinoma in hereditary nonpolyposis colorectal cancer

artículo científico publicado en 1998

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2013

Lista de obras de 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