Microdeletion del(22)(q12.1) excluding theMN1gene in a patient with craniofacial anomalies-Reference-Cited by-同舟云学术

Microdeletion del(22)(q12.1) excluding theMN1gene in a patient with craniofacial anomalies

Published:2015-11-06 Issue:2 Volume:170 Page:498-503
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bosson Caroline¹²,Devillard Françoise¹,Satre Véronique¹²³,Dieterich Klaus¹²,Ray Pierre F.²³⁴,Morand Béatrice⁵,Dubois-Teklali Fanny⁶,Vieville Gaëlle¹,Andrieux Joris⁷,Brouillet Sophie¹²⁸,Amblard Florence¹,Jouk Pierre-Simon¹²⁹,Coutton Charles¹²³

Affiliation:

1. Département de Génétique et Procréation; Hôpital Couple-Enfant, CHU de Grenoble; Grenoble France

2. Université Grenoble-Alpes; Grenoble France

3. Equipe “Genetics Epigenetics and Therapies of Infertility“; Institut Albert Bonniot, INSERM U823; La Tronche France

4. CHU de Grenoble; UF de Biochimie et Génétique Moléculaire; Grenoble F-38000 France

5. Service de chirurgie plastique et maxillo-faciale; Pôle tête et cou et chirurgie réparatrice, CHU de Grenoble; Grenoble Cedex 9 France

6. Service de Pédiatrie; Hôpital Couple-Enfant, CHU de Grenoble; Grenoble France

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

8. Inserm U1036, Biologie du cancer et de l'infection, iRTSV; CEA de Grenoble, 17 rue des Martyrs; Grenoble Cedex 9 France

9. UMR CNRS 5525 TIMC-IMAG, équipe DYCTIM; CHU de Grenoble; Grenoble France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37450/fullpdf

Reference13 articles.

1. Elements of morphology: Standard terminology for the head and face;Allanson;Am J Med Genet Part A,2009

2. Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations;Barbi;J Med Genet,2002

3. Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene;Beck;Am J Med Genet Pat A,2015

4. Osteoclast size is controlled by Fra-2 through LIF/LIF-receptor signalling and hypoxia;Bozec;Nature,2008

5. High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH;Bruder;Hum Mol Genet,2001

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