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Refinado por: autor: Guion-Almeida, M remover
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1
Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome
Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome

Christopher T. Gordon Christopher M Cunniff; Glenn E Green; Roseli Maria Zechi-Ceide; Jason M Johnson; Alex Henderson; Florence Petit; Nancy Mizue Kokitsu Nakata; Maria Leine Guion-Almeida; Arnold Munnich; Michael L Cunningham; Stanislas Lyonnet; Jeanne Amiel

American Journal of Medical Genetics Part A New York v. 164, n. 7, p. 1850-1853, July 2014

Ney York 2014

Acesso online

2
A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects

Eleonora Palagano Christopher T Gordon; Paolo Uva; Dario Strina; Clémantine Dimartino; Anna Villa; Jeanne Amiel; Maria Leine Guion-Almeida; Siulan Vendramini Paulovich Pittoli; Nancy Mizue Kokitsu Nakata; Roseli Maria Zechi-Ceide; Cristina Sobacchi

Bone New York v. 153, id. 116152, 7 p., Dec. 2021

New York 2021

Item não circula. Consulte sua biblioteca.(Acessar)

3
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)

4
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

Christopher J Gordon Florence Petit; Peter Michael Kroisel; Linda Jakobsen; Roseli Maria Zechi-Ceide; Myriam Oufadem; C Bole-Feysot; Solenn Pruvost; Cécile Masson; Frédéric Tores; Thierry Hieu; Patrick Nitschké; Pernille Lindholm; Philippe Pellerin; Maria Leine Guion-Almeida; Nancy Mizue Kokitsu Nakata; Siulan Vendramini Paulovich Pittoli; Arnold Munnich; Stanislas Lyonnet; Muriel Holder-Espinasse; Jeanne Amiel

American Journal of Human Genetics Chicago v. 93, n. 6, p. 1118-1125, Dec. 2013

Chicago 2013

Item não circula. Consulte sua biblioteca.(Acessar)

5
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)

6
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)

7
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

Christopher T Gordon K. Nicole Weaver; Roseli Maria Zechi-Ceide; Erik C Madsen; Andre L. P Tavares; Myriam Oufadem; Yukiko Kurihara; Igor Adameyko; Arnaud Picard; Sylvain Breton; Sébastien Pierrot; Martin Biosse-Duplan; Norine Voisin; Cécile Masson; Christine Bole-Feysot; Patrick Nitschké; Marie-Ange Delrue; Didier Lacombe; Maria Leine Guion-Almeida; Priscila Padilha Moura; Daniela Gamba Garib; Arnold Munnich; Patrik Ernfors; Robert B Hufnagel; Robert J Hopkin

American Journal of Human Genetics Chicago v. 96, n. 4, p. 519-531, Apr. 2015

Chicago 2015

Acesso online

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Deste Autor:

  1. Gordon, C
  2. Guion-Almeida, M
  3. Zechi-Ceide, R
  4. Amiel, J
  5. Nakata, N

Neste Assunto:

  1. Fenótipos
  2. Doenças Genéticas
  3. Anormalidades Craniofaciais
  4. Mutação Genética
  5. Malformações

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

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