Lista de obras - Vera L Gil-da-Silva-Lopes

17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation.

artículo científico publicado en 2016

22q11.2 deletion syndrome in diverse populations.

artículo científico publicado en 2017

8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.

artículo científico publicado en 2015

A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis

artículo científico publicado en 2016

A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.

artículo científico publicado en 2017

A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome

scientific article published on 08 June 2018

A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.

artículo científico publicado en 2016

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

artículo científico publicado en 2012

A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.

artículo científico publicado en 2015

A recognizable phenotype related to 19p13.12 microdeletion

artículo científico publicado en 2018

ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature

artículo científico publicado en 2017

Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome-wide Human Array.

artículo científico publicado en 2017

Anthropometric and body-mass composition suggests an intrinsic feature in Williams-Beuren syndrome.

artículo científico publicado en 2011

Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate

scientific article published on 07 March 2018

Atypical copy number abnormalities in 22q11.2 region: report of three cases

artículo científico publicado en 2013

Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

artículo científico publicado en 2020

Brazil's Craniofacial Project: genetic evaluation and counseling in the Reference Network for Craniofacial Treatment

artículo científico publicado en 2006

Cardiovascular abnormalities in patients with oral cleft: a clinical-electrocardiographic-echocardiographic study.

artículo científico publicado en 2018

Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography.

artículo científico publicado en 2006

Cerebellar involvement in midline facial defects with ocular hypertelorism.

artículo científico publicado en 2006

Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities

artículo científico publicado en 2014

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

artículo científico publicado en 2014

Congenital temporomandibular joint ankylosis: clinical characterization and natural history of four unrelated affected individuals

artículo científico publicado en 2005

Copy number variation in the susceptibility to systemic lupus erythematosus

artículo científico publicado en 2018

CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies

artículo científico publicado en 2017

DLX4 is associated with orofacial clefting and abnormal jaw development.

artículo científico publicado en 2015

De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case.

artículo científico publicado en 2015

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

artículo científico publicado en 2005

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

artículo científico publicado en 2013

Demographic history differences between Hispanics and Brazilians imprint haplotype features

artículo científico publicado en 2022

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.

artículo científico publicado en 2017

Diagnostic implications of associated defects in patients with typical orofacial clefts.

artículo científico publicado en 2015

Disease-specific databases: why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011.

artículo científico publicado en 2012

Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report

artículo científico publicado en 2014

Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review

artículo científico publicado en 2017

Erratum: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

scholarly article published in Nature Genetics

Evaluation of craniofacial care outside the Brazilian reference network for craniofacial treatment

artículo científico publicado en 2008

Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence

artículo científico publicado en 2019

Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing.

artículo científico publicado en 2012

Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.

artículo científico publicado en 2017

Genomic imbalances in craniofacial microsomia

scientific article published on 20 November 2020

Genomic imbalances in syndromic congenital heart disease.

artículo científico publicado en 2017

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

Infertility and marker chromosomes: application of molecular cytogenetic techniques in a case of inv dup(15)

scientific article published on 01 January 2006

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

artículo científico publicado en 2012

Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.

artículo científico publicado en 2014

Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism

artículo científico publicado en 2010

Local strategies to address health needs of individuals with orofacial clefts in alagoas, Brazil

artículo científico publicado en 2012

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

Neonatal care of infants with cleft lip and/or palate: feeding orientation and evolution of weight gain in a nonspecialized Brazilian hospital.

artículo científico publicado en 2007

Planning the human variome project: the Spain report.

artículo científico publicado en 2009

Preliminary molecular studies on blepharocheilodontic syndrome

scientific article published on 01 November 2007

Pure 21q22.3 deletion identified in a patient with mild phenotypic features.

artículo científico publicado en 2018

Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity.

artículo científico publicado en 2006

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

artículo científico publicado en 2016

Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene.

artículo científico publicado en 2018

Risk factors and the prevention of oral clefts

artículo científico publicado en 2014

Study of IRF6 and 8q24 region in non-syndromic oral clefts in the Brazilian population.

artículo científico publicado en 2015

Syndromic Oral Clefts: Challenges of Genetic Assessment in Brazil and Suggestions to Improve Health Policies

artículo científico publicado en 2019

Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health.

artículo científico publicado en 2019

Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito.

artículo científico publicado en 2016

Time of diagnosis of oral clefts: a multicenter study.

artículo científico publicado en 2011

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

artículo científico publicado en 2018

[The use of FISH on buccal smear to investigate mosaicism with a 45,X cell line: study on healthy men and patients with disorders of sex development]

artículo científico publicado en 2014

Lista de obras de Vera L Gil-da-Silva-Lopes

17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation.

22q11.2 deletion syndrome in diverse populations.

8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.

A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis

A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.

A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome

A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.

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

A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.

A recognizable phenotype related to 19p13.12 microdeletion

ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature

Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome-wide Human Array.

Anthropometric and body-mass composition suggests an intrinsic feature in Williams-Beuren syndrome.

Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate

Atypical copy number abnormalities in 22q11.2 region: report of three cases

Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

Brazil's Craniofacial Project: genetic evaluation and counseling in the Reference Network for Craniofacial Treatment

Cardiovascular abnormalities in patients with oral cleft: a clinical-electrocardiographic-echocardiographic study.

Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography.

Cerebellar involvement in midline facial defects with ocular hypertelorism.

Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

Congenital temporomandibular joint ankylosis: clinical characterization and natural history of four unrelated affected individuals

Copy number variation in the susceptibility to systemic lupus erythematosus

CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies

DLX4 is associated with orofacial clefting and abnormal jaw development.

De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case.

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

Demographic history differences between Hispanics and Brazilians imprint haplotype features

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.

Diagnostic implications of associated defects in patients with typical orofacial clefts.

Disease-specific databases: why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011.

Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report

Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review

Erratum: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Evaluation of craniofacial care outside the Brazilian reference network for craniofacial treatment

Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence

Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing.

Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.

Genomic imbalances in craniofacial microsomia

Genomic imbalances in syndromic congenital heart disease.

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

Infertility and marker chromosomes: application of molecular cytogenetic techniques in a case of inv dup(15)

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.

Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism

Local strategies to address health needs of individuals with orofacial clefts in alagoas, Brazil

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

Neonatal care of infants with cleft lip and/or palate: feeding orientation and evolution of weight gain in a nonspecialized Brazilian hospital.

Planning the human variome project: the Spain report.

Preliminary molecular studies on blepharocheilodontic syndrome

Pure 21q22.3 deletion identified in a patient with mild phenotypic features.

Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene.

Risk factors and the prevention of oral clefts

Study of IRF6 and 8q24 region in non-syndromic oral clefts in the Brazilian population.

Syndromic Oral Clefts: Challenges of Genetic Assessment in Brazil and Suggestions to Improve Health Policies

Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health.

Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito.

Time of diagnosis of oral clefts: a multicenter study.

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

[The use of FISH on buccal smear to investigate mosaicism with a 45,X cell line: study on healthy men and patients with disorders of sex development]