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Refinado por: autor: Amiel, J remover
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1
Mutations in endothelin 1 cause auriculocondylar syndrome and isolated question mark ears
Mutations in endothelin 1 cause auriculocondylar syndrome and isolated question mark ears
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

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

Christhofer T. Gordon Florence Petit; P Kroisel; Linda Jakobsen; Roseli Maria Zechi Ceide; Myriam Oufadem; C Bole-Feysot; Patrick Nitschke; Arnold Munnich; Stanislas Lyonnet; M Holder-Espinasse; Jeanne Amiel; European Human Genetics Conference (2014 Milan)

Abstracts Milan : ESHG, 2014

Milan ESHG 2014

Item não circula. Consulte sua biblioteca.(Acessar)

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
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

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
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)

6
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)

7
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)

8
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. Amiel, J
  3. Zechi-Ceide, R
  4. Guion-Almeida, M
  5. Lyonnet, S

Neste Assunto:

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

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

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