Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature-Reference-Cited by-同舟云学术

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

Published:2014-11-25 Issue:1 Volume:167 Page:111-122
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nizon Mathilde¹,Andrieux Joris²,Rooryck Caroline³,de Blois Marie-Christine¹,Bourel-Ponchel Emilie⁴,Bourgois Béatrice⁵,Boute Odile⁶,David Albert⁷,Delobel Bruno⁸,Duban-Bedu Bénédicte⁸,Giuliano Fabienne⁹,Goldenberg Alice¹⁰,Grotto Sarah¹⁰,Héron Delphine¹¹,Karmous-Benailly Houda¹²,Keren Boris¹³,Lacombe Didier³,Lapierre Jean-Michel¹,Le Caignec Cédric⁷,Le Galloudec Eric¹⁴,Le Merrer Martine¹⁵,Le Moing Anne-Gaëlle⁴,Mathieu-Dramard Michèle¹⁶,Nusbaum Sylvie¹,Pichon Olivier⁷,Pinson Lucile¹⁷,Raoul Odile¹,Rio Marlène¹⁵,Romana Serge¹,Roubertie Agnès¹⁸,Colleaux Laurence¹,Turleau Catherine¹,Vekemans Michel¹,Nabbout Rima¹⁹,Malan Valérie¹

Affiliation:

1. Département de Génétique; Université Paris Descartes; Sorbonne Paris Cité; Institut IMAGINE UMR_S1163; Hôpital Necker-Enfants Malades; Paris France

2. Institut de Génétique Médicale; Hôpital Jeanne de Flandre; Lille France

3. Service de Génétique Médicale; CHU; Bordeaux France

4. Service de Neuropédiatrie; CHU Nord; Amiens France

5. Service de Neuropédiatrie; Hôpital Jeanne de Flandre; Lille France

6. Service de Génétique Clinique; Hôpital Jeanne de Flandre; Lille France

7. Service de Génétique Médicale; CHU; Nantes France

8. Service de Cytogénétique; Groupe Hospitalier de l'Institut Catholique; Lille France

9. Service de Génétique Médicale; Hôpital l'Archet; Nice France

10. Département de Génétique; CHU; Rouen France

11. Département de Génétique; Hôpital La Pitié Salpêtrière; Paris France

12. Laboratoire de Cytogénétique; Hôpital l'Archet; Nice France

13. Service de Cytogénétique; Hôpital La Pitié Salpêtrière; Paris France

14. Service de Néonatologie; Centre Hospitalier; Beauvais France

15. Service de Génétique Clinique; Hôpital Necker-Enfants Malades; Paris France

16. Service de Génétique Médicale; CHU Nord; Amiens France

17. Département de Génétique Médicale; Hôpital Arnaud de Villeneuve; Montpellier France

18. Service de Neuropédiatrie; CHU Montpellier; Hôpital Gui de Chauliac; Montpellier France

19. Service de Neurologie pédiatrique; Centre de référence épilepsies rares; Hôpital Necker-Enfants Malades; Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36807/fullpdf

Reference45 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development;Benko;J Med Genet,2011

3. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009;Berg;Epilepsia,2010

4. Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: Phenotypic and molecular characterization;Bonnet;J Hum Genet,2006

5. X-inactivation profile reveals extensive variability in X-linked gene expression in females;Carrel;Nature,2005

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