Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence-Reference-Cited by-同舟云学术

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Published:2009-02-22 Issue:3 Volume:41 Page:359-364
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Benko Sabina,Fantes Judy A,Amiel Jeanne,Kleinjan Dirk-Jan,Thomas Sophie,Ramsay Jacqueline,Jamshidi Negar,Essafi Abdelkader,Heaney Simon,Gordon Christopher T,McBride David,Golzio Christelle,Fisher Malcolm,Perry Paul,Abadie Véronique,Ayuso Carmen,Holder-Espinasse Muriel,Kilpatrick Nicky,Lees Melissa M,Picard Arnaud,Temple I Karen,Thomas Paul,Vazquez Marie-Paule,Vekemans Michel,Crollius Hugues Roest,Hastie Nicholas D,Munnich Arnold,Etchevers Heather C,Pelet Anna,Farlie Peter G,FitzPatrick David R,Lyonnet Stanislas

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.329.pdf

Reference30 articles.

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2. Etchevers, H.C., Amiel, J. & Lyonnet, S. Molecular bases of human neurocristopathies. Adv. Exp. Med. Biol. 589, 213–234 (2006).

3. Vintiner, G.M., Temple, I.K., Middleton-Price, H.R., Baraitser, M. & Malcolm, S. Genetic and clinical heterogeneity of Stickler syndrome. Am. J. Med. Genet. 41, 44–48 (1991).

4. Jamshidi, N. et al. Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation. J. Med. Genet. 41, e1 (2004).

5. Jakobsen, L.P. et al. Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J. Med. Genet. 44, 381–386 (2007).

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