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Refinado por: autor: Passos-Bueno, M remover
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1
A review of craniofacial disorders caused by spliceosomal defects
A review of craniofacial disorders caused by spliceosomal defects
Material Type:
Artigo 		Adicionar ao Meu Espaço

A review of craniofacial disorders caused by spliceosomal defects

D. Lehallea D Wieczorek; Roseli Maria Zechi-Ceide; Maria Rita Passos-Bueno; S Lyonnet; J Amie; C.T Gordon

Clinical Genetics p. on-line

Hoboken 2015

Item não circula. Consulte sua biblioteca.(Acessar)

2
Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding
Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding

Vanessa Luiza Tavares Christhofer T Gordon; T Torres; N Voisin; D Bertola; Roseli Maria Zechi Ceide; T. Y Tan; A. A. C Heggie; E Propst; B. C Papsin; Nancy Mizue Kokitsu Nakata; Maria Leine Guion-Almeida; Siulan Vendramini Pailovich Pittoli; Stanislas Lyonnet; Jeanne Amiel; Maria Rita Passos-Bueno; European Human Genetics Conference (2014 Milan)

Abstracts Milan : ESHG, 2014

Milan ESHG 2014

Item não circula. Consulte sua biblioteca.(Acessar)

3
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

Vanessa L. Romanelli Tavares Roseli M Zechi-Ceide; Debora R Bertola; Christopher T Gordon; Simone G Ferreira; Gabriella S. P Hsia; Guilherme L Yamamoto; Suzana A. M Ezquina; Nancy M Kokitsu-Nakata; Siulan Vendramini-Pittoli; Renato S Freitas; Josiane Souza; Cesar A Raposo-Amaral; Mayana Zatz; Jeanne Amiel; Maria L Guion-Almeida; Maria Rita Passos-Bueno

American Journal of Medical Genetics Part A Hoboken v.173, n.4, p.938-945, 2017

Hoboken 2017

Item não circula. Consulte sua biblioteca.(Acessar)

4
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
Material Type:
Artigo 		Adicionar ao Meu Espaço

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

Vanessa Luiza Romanelli Tavares Christopher T Gordon; Roseli Maria Zechi-Ceide; Nancy Mizue Kokitsu Nakata; Norine Voisin; Tiong Y Tan; Andrew A Heggie; Siulan Vendramini Paulovich Pittoli; Evan J Propst; Blake C Papsin; Tatiana Teixeira Torres; Henk Buermans; Luciane Portas Capelo; Johan T Den Dunnen; Maria Leine Guion-Almeida; Stanislas Lyonnet; Jeanne Amiel; Maria Rita Passos-Bueno

European Journal of Human Genetics London v. 23, n. 4, p. 481-485, Apr. 2015

London 2015

Item não circula. Consulte sua biblioteca.(Acessar)

5
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
Material Type:
Artigo 		Adicionar ao Meu Espaço

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Nancy Vegas Zeynep Demir; Christopher T Gordon; Sylvain Breton; Vanessa Luiza Romanelli Tavares; Hugo Moisset; Roseli Maria Zechi-Ceide; Nancy M Kokitsu-Nakata; Yasuhiro Kido; Sandrine Marlin; Souad Gherbi Halem; Ilse Meerschaut; Bert Callewaert; Brian Chung; Nicole Revencu; Daphné Lehalle; Florence Petit; Evan J Propst; Blake C Papsin; John H Phillips; Linda Jakobsen; Pauline Le Tanno; Julien Thévenon; Julie McGaughran; Erica H Gerkes; Chiara Leoni; Peter Kroisel; Tiong Y Tan; Alex Henderson; Paulien Terhal; Lina Basel-Salmon; Adila Alkindy; Susan M White; Maria Rita Passos-Bueno; Véronique Pingault; Loïc De Pontual; Jeanne Amiel

Human Mutation Hoboken v. 43, n. 5, p. 582-594, 2022

Hoboken 2022

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Gordon, C
  2. Passos-Bueno, M
  3. Zechi-Ceide, R
  4. Amiel, J
  5. Tavares, V

Neste Assunto:

  1. Doenças Genéticas
  2. Malformações
  3. Anormalidades Craniofaciais
  4. Anomalia Craniofacial
  5. Fenótipos

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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