Works by Gil-da-Silva-Lopes, Vera L

Results: 18

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

Published in:

2006

By:

Zenker, Martin;
Mayerle, Julia;
Lerch, Markus M;
Tagariello, Andreas;
Zerres, Klaus;
Durie, Peter R;
Beier, Matthias;
Hülskamp, Georg;
Guzman, Celina;
Rehder, Helga;
Beemer, Frits A;
Hamel, Ben;
Vanlieferinghen, Philippe;
Gershoni-Baruch, Ruth;
Vieira, Marta W;
Dumic, Miroslav;
Auslender, Ron;
Gil-da-Silva-Lopes, Vera L;
Steinlicht, Simone;
Rauh, Manfred

Publication type:

Correction Notice

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

Published in:

Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681

By:

Zenker, Martin;
Mayerle, Julia;
Lerch, Markus M.;
Tagariello, Andreas;
Zerres, Klaus;
Durie, Peter R.;
Beier, Matthias;
Hülskamp, Georg;
Guzman, Celina;
Rehder, Helga;
Beemer, Frits A.;
Hamel, Ben;
Vanlieferinghen, Philippe;
Gershoni-Baruch, Ruth;
Vieira, Marta W.;
Dumic, Miroslav;
Auslender, Ron;
Gil-da-Silva-Lopes, Vera L.;
Steinlicht, Simone;
Rauh, Manfred

Publication type:

Article

Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.

Published in:

Cleft Palate Craniofacial Journal, 2024, v. 61, n. 9, p. 1578, doi. 10.1177/10556656231174435

By:

Spineli-Silva, Samira;
Monlleó, Isabella L.;
Félix, Têmis M.;
Gil-da-Silva-Lopes, Vera L.;
Vieira, Társis P.

Publication type:

Article

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

Published in:

Cleft Palate Craniofacial Journal, 2015, v. 52, n. 4, p. 411, doi. 10.1597/13-233

By:

Vieira, Tarsis P.;
Monteiro, Fabíola P.;
Sgardioli, Ilária Maria C.;
Souza, Josiane;
Fett-Conte, Agnes C.;
Monlleó, Isabella L.;
Fontes, Marshall B.;
Félix, Têmis M.;
Leal, Gabriela F.;
Marques Ribeiro, Erlane;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

DLX4 is associated with orofacial clefting and abnormal jaw development.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4340, doi. 10.1093/hmg/ddv167

By:

Di Wu;
Mandal, Shyamali;
Choi, Alex;
Anderson, August;
Prochazkova, Michaela;
Perry, Hazel;
Gil-Da-Silva-Lopes, Vera L.;
Lao, Richard;
Wan, Eunice;
Paul Ling-Fung Tang;
Pui-yan Kwok;
Klein, Ophir;
Bian Zhuan;
Slavotinek, Anne M.

Publication type:

Article

Obituary: Antonio Richieri‐Costa (1946–2019).

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2169, doi. 10.1002/ajmg.a.61343

By:

Gil‐da‐Silva‐Lopes, Vera L.

Publication type:

Article

Genomic imbalances in craniofacial microsomia.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 970, doi. 10.1002/ajmg.c.31857

By:

Spineli‐Silva, Samira;
Sgardioli, Ilária C.;
Santos, Ana P.;
Bergamini, Luna L.;
Monlleó, Isabella L.;
Fontes, Marshall I. B.;
Félix, Têmis M.;
Ribeiro, Erlane M.;
Xavier, Ana C.;
Lustosa‐Mendes, Elaine;
Gil‐da‐Silva‐Lopes, Vera L.;
Vieira, Tarsis P.

Publication type:

Article

A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis.

Published in:

Sexual Development, 2016, v. 10, n. 1, p. 23, doi. 10.1159/000444870

By:

Simioni, Milena;
Lopes Monlleó, Isabella;
Costa de Queiroz, Camila M.;
Fragoso Peixoto Gazzaneo, Ilanna;
Lima do Nascimento, Diogo L.;
Luna de Omena Filho, Reinaldo;
Santos da Cruz Piveta, Cristiane;
Palandi de Mello, Maricilda;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

Implicações diagnosticas de defeitos associados em pacientes com fendas orofaciais típicas.

Published in:

Jornal de Pediatria, 2015, v. 91, n. 5, p. 485, doi. 10.1016/j.jped.2014.12.001

By:

Monlleó, Isabella L.;
de Barros, Amanda G. R.;
Fontes, Marshall I. B.;
de Andrade, Ana K. M.;
Brito, Gisele de M.;
do Nascimento, Diogo L. L.;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

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

Published in:

Annals of Human Genetics, 2017, v. 81, n. 6, p. 225, doi. 10.1111/ahg.12208

By:

Barbosa, Fernanda B.;
Cagnin, Natalia F.;
Simioni, Milena;
Farias, Allysson A.;
Torres, Fábio R.;
Molck, Miriam C.;
Araujo, Tânia K.;
Gil‐Da‐Silva‐Lopes, Vera L.;
Donadi, Eduardo A.;
Simões, Aguinaldo L.

Publication type:

Article

Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.

Published in:

Congenital Anomalies, 2021, v. 61, n. 5, p. 148, doi. 10.1111/cga.12422

By:

Bergamini, Luna Lira;
Spineli‐Silva, Samira;
Félix, Têmis Maria;
Gil‐da‐Silva‐Lopes, Vera L.;
Vieira, Tarsis P.;
Ribeiro, Erlane Marques;
Xavier, Ana Carolina;
Lustosa‐Mendes, Elaine;
Fontes, Marshall Ítalo Barros;
Monlleó, Isabella L.

Publication type:

Article

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

Published in:

Molecular Syndromology, 2018, v. 9, n. 4, p. 197, doi. 10.1159/000489870

By:

Coelho Molck, Miriam;
Simioni, Milena;
Paiva Vieira, Társis;
Paoli Monteiro, Fabíola;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

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

Published in:

Molecular Syndromology, 2017, v. 8, n. 5, p. 244, doi. 10.1159/000477598

By:

Sgardioli, Ilária C.;
de Mello Copelli, Matheus;
Monteiro, Fabíola P.;
dos Santos, Ana P.;
Mendes, Elaine Lustosa;
Vieira, Társis Paiva;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

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

Published in:

Molecular Syndromology, 2017, v. 8, n. 4, p. 201, doi. 10.1159/000470025

By:

de Araujo, Tânia Kawasaki;
Lustosa-Mendes, Elaine;
dos Santos, Ana P.;
Molck, Miriam Coelho;
Volpe-Aquino, Roberta Mazzariol;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

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

Published in:

Molecular Syndromology, 2017, v. 8, n. 4, p. 187, doi. 10.1159/000477084

By:

Simioni, Milena;
Artiguenave, François;
Meyer, Vincent;
Sgardioli, Ilária C.;
Viguetti-Campos, Nilma L.;
Monlleó, Isabella Lopes;
Maciel-Guerra, Andréa T.;
Steiner, Carlos E.;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

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

Published in:

Molecular Syndromology, 2017, v. 8, n. 3, p. 161, doi. 10.1159/000469965

By:

Coelho Molck, Miriam;
Simioni, Milena;
Paiva Vieira, Társis;
Paoli Monteiro, Fabíola;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

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

Published in:

Molecular Syndromology, 2017, v. 8, n. 1, p. 36, doi. 10.1159/000452753

By:

Barros Fontes, Marshall I.;
dos Santos, Ana P.;
Rossi Torres, Fábio;
Lopes-Cendes, Iscia;
Cendes, Fernando;
Appenzeller, Simone;
de Araujo, Tânia Kawasaki;
Monlleó, Isabella Lopes;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

<italic>CranFlow</italic>: An Application for Record‐Taking and Management Through the Brazilian Database on Craniofacial Anomalies.

Published in:

Birth Defects Research, 2018, v. 110, n. 1, p. 72, doi. 10.1002/bdr2.1123

By:

Volpe‐Aquino, Roberta M.;
Monlleó, Isabella L.;
Lustosa‐Mendes, Elaine;
Mora, Amanda F.;
Fett‐Conte, Agnes C.;
Félix, Têmis M.;
Xavier, Ana C.;
Tonocchi, Rita;
Ribeiro, Erlane M.;
Pereira, Rui;
Boy da Silva, Raquel T.;
de Rezende, Adriana A.;
Cavalcanti, Denise P.;
Gil‐da‐Silva‐Lopes, Vera L.

Publication type:

Article