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Refinado por: autor: Guion-Almeida, M eliminar materia: Mutação Genética eliminar
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1
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:
Artículo 		Añadir a Mi Portal

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

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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:
Artículo de Congreso 		Añadir a Mi Portal

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

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3
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:
Artículo 		Añadir a Mi Portal

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

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por este autor/creador:

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

con este tema:

  1. Disostose Mandibulofacial
  2. Doenças Genéticas
  3. Malformações
  4. Alopecia
  5. Fenótipos

  • Realización: ABCD-USP USP   Logos de Redes Sociales: Freepik

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