A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction-Reference-Cited by-同舟云学术

A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction

Published:2015-04-21 Issue:6 Volume:167 Page:1275-1284
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Landais Emilie¹²,Leroy Camille¹³,Kleinfinger Pascale⁴,Brunet Stéphanie¹,Koubi Valérie⁵,Pietrement Christine⁶,Poli-Mérol Marie-Laurence³⁷,Fiquet Caroline⁷⁸,Souchon Pierre-François⁶,Beri Mylène⁹,Jonveaux Philippe⁹,Garnotel Roselyne¹⁰,Gaillard Dominique¹³,Doco-Fenzy Martine¹⁸

Affiliation:

1. CHU-Reims; HMB; Service de Génétique; France

2. CHU-Reims; HMB; Plateforme Régionale de Biologie Innovante; France

3. Université de Reims Champagne-Ardenne; UFR de médecine; France

4. Laboratoire de Génétique; Pasteur Cerba; Cergy Pontoise France

5. Service de génétique Médicale, Laboratoire de génétique moléculaire; CHU Hopital Necker enfants malades; Paris France

6. CHU-Reims; American Memorial Hospital; Service de Pédiatrie A; France

7. CHU-Reims; American Memorial Hospital; Service de Chirurgie pédiatrique; France

8. SFR CAP Santé; Reims EA 3801 France

9. CHU-Nancy; Laboratoire de Génétique Médicale; Nancy Université; France

10. CHU-Reims, Laboratoire de Biochimie Médicale et Biologie Moléculaire; CNRS UMR 6198, UFR; Médecine France

Funder

French Health ministery

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36995/fullpdf

Reference42 articles.

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3. Familial partial trisomy 6q syndromes resulting from inherited ins(5;6) (q33;q15q27);Chen;Clin Genet,1976

4. Small deletion variants have stable breakpoints commonly associated with alu elements;de Smith;PLoS One,2008

5. Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer;Denison;Genes Chromosomes Cancer,2003

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