Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

Xq28 duplication overlapping theint22h-1/int22h-2region and includingRAB39BandCLIC2in a family with intellectual and developmental disability

(2014) Erica F. Andersen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Genetics of Microdeletion and Microduplication Syndromes: An Update

(2014) Corey T. Watson et al.   Annual Review of Genomics and Human Genetics

Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes

(2014) S. Janczar et al.   BLOOD

Cellular Resolution Maps of X Chromosome Inactivation: Implications for Neural Development, Function, and Disease

(2014) Hao Wu et al.   NEURON

Intron 22 homologous regions are implicated in exons 1–22 duplications of the F8 gene

(2013) Nathalie Lannoy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

(2013) Lieselot Vanmarsenille et al.   HUMAN MUTATION

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

(2012) Kyoko Takano et al.   HUMAN MOLECULAR GENETICS

Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya

(2011) Snaigune Miskinyte et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of the cardiac muscle ryanodine receptor by glutathione transferases

(2011) Angela F. Dulhunty et al.   DRUG METABOLISM REVIEWS

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

(2011) A. W. El-Hattab et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

(2010) Maila Giannandrea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MECP2 duplications in six patients with complex sex chromosome rearrangements

(2010) Amy M Breman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

(2009) Ayman W. El-Hattab et al.   HUMAN GENETICS

CLIC2-RyR1 Interaction and Structural Characterization by Cryo-electron Microscopy

(2009) Xing Meng et al.   JOURNAL OF MOLECULAR BIOLOGY

Rab GTPases as coordinators of vesicle traffic

(2009) Harald Stenmark   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Rab GTPases and their roles in brain neurons and glia

(2008) Ee Ling Ng et al.   BRAIN RESEARCH REVIEWS

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE