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List of works by Vera L Gil-da-Silva-Lopes

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

scientific article published on 25 November 2016

22q11.2 deletion syndrome in diverse populations

scientific article published in April 2017

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

scientific article published on 7 August 2015

A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis

scientific article published on 24 March 2016

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

scientific article published on 19 April 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.

scientific article published on 15 September 2016

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

scientific article published on 20 July 2012

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

scientific article published on 13 August 2015

A recognizable phenotype related to 19p13.12 microdeletion

scientific article published on 28 July 2018

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

scientific article published on 13 April 2017

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

scientific article published on 11 September 2017

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

scientific article

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

scientific article published on 23 July 2013

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

scientific article published on 09 November 2020

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

scientific article published on 01 September 2006

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

scientific article

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

scientific article

Cerebellar involvement in midline facial defects with ocular hypertelorism.

scientific article published on July 2006

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

scientific article published on 7 May 2014

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

scientific article published on 3 April 2014

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

scientific article published on 01 November 2005

Copy number variation in the susceptibility to systemic lupus erythematosus

scientific article published in PLoS ONE

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

scientific article published on 26 September 2017

DLX4 is associated with orofacial clefting and abnormal jaw development.

scientific article published on 7 May 2015

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

scientific article published on 28 August 2015

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

scientific article

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

scientific article published on 26 February 2013

Demographic history differences between Hispanics and Brazilians imprint haplotype features

scientific article published in 2022

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

scientific article published on 24 June 2017

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

scientific article published on 4 June 2015

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

scientific article

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

scientific article published on 30 October 2014

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

scientific article

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

scientific article published on 23 July 2008

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

scientific article published on 26 July 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.

scientific article published on 21 October 2012

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

scientific article published in June 2017

Genomic imbalances in craniofacial microsomia

scientific article published on 20 November 2020

Genomic imbalances in syndromic congenital heart disease.

scientific article published on 20 March 2017

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

scientific article published on 07 December 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

scientific article published on 18 September 2012

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

scientific article published on 13 November 2014

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

scientific article published on 01 January 2010

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

scientific article published on 11 January 2012

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

scientific article published on 21 September 2011

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

scientific article

Planning the human variome project: the Spain report.

scientific article published in April 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.

scientific article published on 11 January 2018

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

scientific article published in March 2006

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

scientific article published on 20 April 2016

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

scientific article published on 5 February 2018

Risk factors and the prevention of oral clefts

scientific article published on 12 February 2014

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

scientific article

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

scientific article published on 27 August 2019

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

scientific article

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

scientific article published on March 2016

Time of diagnosis of oral clefts: a multicenter study.

scientific article published on 28 April 2011

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

scientific article

[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]

scientific article published on 01 June 2014

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