Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history-Reference-Cited by-同舟云学术

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

Published:2014-07-21 Issue:5 Volume:87 Page:488-491
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Nguyen K.¹,Putoux A.²³,Busa T.¹,Cordier M.P.²,Sigaudy S.¹,Till M.²,Chabrol B.⁴,Michel-Calemard L.⁵,Bernard R.¹,Julia S.⁶,Malzac P.¹⁷,Labalme A.²,Missirian C.¹,Edery P.²³,Popovici C.¹,Philip N.¹,Sanlaville D.²³

Affiliation:

1. Département de Génétique Médicale; Hôpital d'enfants de la Timone; Marseille France

2. Service de Génétique; Hospices Civils de Lyon; Lyon France

3. CNRL, INSERM U1028, CNRS UMR5292; Université Claude Bernard Lyon 1; Lyon France

4. Service de Pédiatrie et Neuropédiatrie; Hôpital d'enfants de la Timone; Marseille France

5. Service d'Endocrinologie Moléculaire et Maladies Rares; Hospices Civils de Lyon; Lyon France

6. Service de Génétique; CHU de Toulouse; Toulouse France

7. UMR 7268 ADES; Aix-Marseille Université-EFS-CNRS; Marseille France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference10 articles.

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2. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array comparative genomic hybridization;Gaudio;Hum Mutat,2008

3. Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization;Cottrell;Am J Med Genet A,2010 Sep

4. Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11;Roll;PLoS One,2010

5. Incidental findings from clinical genome-wide sequencing: a review;Lohn;J Genet Counsel,2013

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