Duplication Xp11.22-p14 in females: Does X-inactivation help in assessing their significance?-Reference-Cited by-同舟云学术

Duplication Xp11.22-p14 in females: Does X-inactivation help in assessing their significance?

Published:2015-02-18 Issue:3 Volume:167 Page:553-562
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Evers Christina¹,Mitter Diana²,Strobl-Wildemann Gertrud³,Haug Ulrich⁴,Hackmann Karl⁵,Maas Bianca¹,Janssen Johannes W. G.¹,Jauch Anna¹,Hinderhofer Katrin¹,Moog Ute¹

Affiliation:

1. Institute of Human Genetics; Heidelberg University; Heidelberg Germany

2. Institute of Human Genetics; University Hospital Leipzig; Leipzig Germany

3. Humangenetik Ulm MVZ; Ulm Germany

4. Center for Child Neurology and Social Pediatrics Maulbronn; Maulbronn Germany

5. Institut fuer Klinische Genetik; Medizinische Fakultaet Carl Gustav Carus; Technische Universitaet Dresden; Dresden Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 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. Direct fluorescent labelling of clones by DOP PCR;Backx;Mol Cytogenet,2008

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

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

5. Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder;Chung;Eur J Med Genet,2011

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