Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies-Reference-Cited by-同舟云学术

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Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

Published:2014-05-06 Issue:8 Volume:164 Page:2097-2103
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Esplin Edward D.¹,Li Ben²,Slavotinek Anne²,Novelli Antonio³,Battaglia Agatino⁴,Clark Robin⁵,Curry Cynthia⁶,Hudgins Louanne¹

Affiliation:

1. Division of Medical Genetics, Department of Pediatrics; Stanford University School of Medicine; Stanford California

2. Division of Medical Genetics, Department of Pediatrics; University of California San Francisco; San Francisco California

3. Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital; San Giovanni Rotondo (FG) Italy

4. The Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry; Calambrone (Pisa) Italy

5. Division of Medical Genetics, Department of Pediatrics; Loma Linda University; Loma Linda California

6. Division of Medical Genetics, Department of Pediatrics; UCSF Fresno; Fresno California

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36598/fullpdf

Reference30 articles.

1. Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4;Alvarado;Am J Hum Genet,2010

2. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray;Baldwin;Genet Med,2008

3. A stain upon the silence: Genes escaping X inactivation;Brown;Trends Genet,2003

4. A first-generation X-inactivation profile of the human X chromosome;Carrel;Proc Natl Acad Sci USA,1999

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

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3. Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up;BMC Medical Genomics;2023-04-03

4. Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion;Cytogenetic and Genome Research;2023

5. X-Linked CNV in Pathogenetics of Intellectual Disability;Russian Journal of Genetics;2022-10

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