✦ LIBER ✦

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome

✍ Scribed by Hiltrud Muhle; Heather C. Mefford; Tanja Obermeier; Sarah von Spiczak; Evan E. Eichler; Ulrich Stephani; Thomas Sander; Ingo Helbig

Book ID: 109113411
Publisher: Wiley (Blackwell Publishing)
Year: 2011
Tongue: English
Weight: 358 KB
Volume: 52
Category: Article
ISSN: 0013-9580
DOI: 10.1111/j.1528-1167.2011.03301.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel 800 kb microduplication of chrom

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

✍ Siddharth Banka; Gregory J. Fitzgibbon; Lorraine Gaunt; Wendy J. Rankin; Jill Cl 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB 👁 2 views

Investigation of the 15q13.3 CNV as a ge

Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes

✍ John C. Mulley; Ingrid E. Scheffer; Tarishi Desai; Marta A. Bayly; Bronwyn E. Gr 📂 Article 📅 2011 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 60 KB

A small homozygous microdeletion of 15q1

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

✍ Jun Liao; Stephanie J. DeWard; Suneeta Madan-Khetarpal; Urvashi Surti; Jie Hu 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 376 KB 👁 2 views

## Abstract A broad spectrum of neurodevelopmental and psychiatric disorders with variable expressivity has been reported to be associated with 15q13.3 heterozygous microdeletions. Using oligonucleotide‐based array‐CGH analysis, we identified a small homozygous 15q13.3 deletion in a 6‐year‐old girl

A 15q13.3 homozygous microdeletion assoc

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes

✍ Jean-Baptiste LePichon; Douglas C. Bittel; William D. Graf; Shihui Yu 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB 👁 2 views

Interstitial deletion 1q42 in a patient

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype–genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome

✍ Isabel Filges; Benno Röthlisberger; Nemya Boesch; Peter Weber; Friedel Wenzel; A 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB 👁 3 views

Paraphilia as a sexual disability: Outco

Paraphilia as a sexual disability: Outcome study in a female with a history of the Kaspar Hauser dwarfism syndrome

✍ John Money; Charles Annecillo 📂 Article 📅 1991 🏛 Springer US 🌐 English ⚖ 933 KB