Lista de obras - Ana Cristina Krepischi - Dominio Público Uruguay

10q23.31 microduplication encompassing decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly

artículo científico publicado en 2018

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

artículo científico publicado en 2011

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.

artículo científico publicado en 2006

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

scientific article published on 18 July 2019

A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state

artículo científico publicado en 2012

A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.

artículo científico publicado en 2016

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

artículo científico publicado en 2013

A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

artículo científico publicado en 2012

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

article

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

artículo científico publicado en 2011

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

artículo científico publicado en 2007

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome

artículo científico publicado en 2005

An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder

artículo científico publicado en 2014

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

artículo científico publicado en 2007

Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML.

artículo científico publicado en 2013

Association of melanoma with intraepithelial neoplasia of the pancreas in three patients.

artículo científico publicado en 2014

Atypical presentation of a germline APC mutation in a child with supratentorial primitive neuroectodermal tumor

artículo científico publicado en 2018

Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome

artículo científico publicado en 2007

Chromosome imbalances in syndromic hearing loss

artículo científico publicado en 2009

Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient

artículo científico publicado en 2014

Complex phenotype associated with 17q21.31 microdeletion.

artículo científico publicado en 2013

Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil

artículo científico publicado en 2013

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

artículo científico publicado en 2009

DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients

artículo científico publicado en 2015

DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation

scientific article published on 13 August 2019

DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations.

artículo científico publicado en 2016

Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia

scientific article published on 05 February 2018

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.

artículo científico publicado en 2011

Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B.

artículo científico publicado en 2001

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

artículo científico publicado en 2010

Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer's Disease Individuals.

artículo científico publicado en 2016

Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9

artículo científico publicado en 2003

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

artículo científico publicado en 2014

Down-regulation of ANAPC13 and CLTCL1: Early Events in the Progression of Preinvasive Ductal Carcinoma of the Breast

artículo científico publicado en 2012

Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.

artículo científico publicado en 2017

Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma

scientific article published on 03 August 2020

Genome-wide DNA methylation profile of leukocytes from melanoma patients with and without CDKN2A mutations

artículo científico publicado en 2014

Genomic copy number alterations of primary and secondary metastasizing pleomorphic adenomas.

artículo científico publicado en 2015

Genomic imbalances associated with mullerian aplasia

artículo científico publicado en 2007

Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors.

artículo científico publicado en 2016

Genomic profile of a squamous cell carcinoma ex pleomorphic adenoma compared to a head and neck squamous cell carcinoma

Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

artículo científico publicado en 2015

Germline BAX deletion in a patient with melanoma and gastrointestinal stromal tumor

artículo científico publicado en 2013

Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma

artículo científico publicado en 2014

Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

artículo científico publicado en 2013

Germline copy number variations and cancer predisposition.

artículo científico publicado en 2012

Hepatoblastomas exhibit marked <i>NNMT</i> downregulation driven by promoter DNA hypermethylation

scientific article published on 01 December 2020

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients

artículo científico publicado en 2014

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g

article

Insights into the Chemical Biology of Childhood Embryonal Solid Tumors by NMR-Based Metabolomics

artículo científico publicado en 2019

LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis

artículo científico publicado en 2015

LINE-1 hypomethylation and mutational status in cutaneous melanomas

artículo científico publicado en 2016

Large germline copy number variations as predisposing factor in childhood neoplasms

artículo científico publicado en 2014

Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast

artículo científico publicado en 2014

MEG3 and MEG8 aberrant methylation in an infant with neuroblastoma

artículo científico publicado en 2020

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization

artículo científico publicado en 2011

Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability

artículo científico publicado en 2018

Methylome profiling of healthy and central precocious puberty girls

artículo científico publicado en 2018

Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review

article

Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

artículo científico publicado en 2013

Number of rare germline CNVs and TP53 mutation types ⬇️

artículo científico publicado el 21 de diciembre de 2012

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

artículo científico publicado en 2017

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

artículo científico publicado en 2017

Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour

artículo científico publicado en 2014

Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion ofWNT-4,RAR-gamma, andRXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women

article

Role of rare germline copy number variation in melanoma-prone patients

artículo científico publicado en 2016

Short Report - Clinical Genetics Genomic copy number alterations in non-syndromic hearing loss

artículo científico publicado en 2015

Single-nucleotide polymorphism-array improves detection rate of genomic alterations in core-binding factor leukemia.

artículo científico

Somatic copy number alterations in pleomorphic adenoma and recurrent pleomorphic adenoma

artículo científico publicado en 2019

TET Upregulation Leads to 5-Hydroxymethylation Enrichment in Hepatoblastoma

scientific article published on 12 June 2019

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.

artículo científico publicado en 2014

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.

artículo científico publicado en 2010

Upregulated genes at 2q24 gains as candidate oncogenes in hepatoblastomas

artículo científico publicado en 2014

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

artículo científico publicado en 2018

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

artículo científico publicado en 2006

X chromosome-inactivation patterns in patients with Rett syndrome

artículo científico publicado en 1998

Lista de obras de Ana Cristina Krepischi

10q23.31 microduplication encompassing decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state

A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome

An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML.

Association of melanoma with intraepithelial neoplasia of the pancreas in three patients.

Atypical presentation of a germline APC mutation in a child with supratentorial primitive neuroectodermal tumor

Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome

Chromosome imbalances in syndromic hearing loss

Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient

Complex phenotype associated with 17q21.31 microdeletion.

Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients

DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation

DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations.

Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.

Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B.

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer's Disease Individuals.

Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

Down-regulation of ANAPC13 and CLTCL1: Early Events in the Progression of Preinvasive Ductal Carcinoma of the Breast

Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.

Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma

Genome-wide DNA methylation profile of leukocytes from melanoma patients with and without CDKN2A mutations

Genomic copy number alterations of primary and secondary metastasizing pleomorphic adenomas.

Genomic imbalances associated with mullerian aplasia

Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors.

Genomic profile of a squamous cell carcinoma ex pleomorphic adenoma compared to a head and neck squamous cell carcinoma

Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

Germline BAX deletion in a patient with melanoma and gastrointestinal stromal tumor

Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma

Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

Germline copy number variations and cancer predisposition.

Hepatoblastomas exhibit marked <i>NNMT</i> downregulation driven by promoter DNA hypermethylation

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g

Insights into the Chemical Biology of Childhood Embryonal Solid Tumors by NMR-Based Metabolomics

LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis

LINE-1 hypomethylation and mutational status in cutaneous melanomas

Large germline copy number variations as predisposing factor in childhood neoplasms

Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast

MEG3 and MEG8 aberrant methylation in an infant with neuroblastoma

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization

Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability

Methylome profiling of healthy and central precocious puberty girls

Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review

Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

Number of rare germline CNVs and TP53 mutation types ⬇️

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour

Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion ofWNT-4,RAR-gamma, andRXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women

Role of rare germline copy number variation in melanoma-prone patients

Short Report - Clinical Genetics Genomic copy number alterations in non-syndromic hearing loss

Single-nucleotide polymorphism-array improves detection rate of genomic alterations in core-binding factor leukemia.

Somatic copy number alterations in pleomorphic adenoma and recurrent pleomorphic adenoma

TET Upregulation Leads to 5-Hydroxymethylation Enrichment in Hepatoblastoma

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.

Upregulated genes at 2q24 gains as candidate oncogenes in hepatoblastomas

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

X chromosome-inactivation patterns in patients with Rett syndrome