Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Chelsea Lowther, Marsha Speevak, Christine M. Armour, +29

Genetics in Medicine

Congenital Hydranencephaly/Porencephaly Due to Vascular Disruption in Monozygotic Twins

Jack H. Jung, John M. Graham, Nancy Lusignan Schultz, +1

PEDIATRICS

Pediatric HydrocephalusVascular MalformationGynecologyCongenital Heart AnomalyEmbryology +14

Genetic analysis of patients with the Saethre‐Chotzen phenotype

Kathy Chun, Ahmad S. Teebi, Jack H. Jung, +7

American Journal of Medical Genetics

Direct duplication of 8p21.3?p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features

Yao‐Shan Fan, Victoria Mok Siu, Jack H. Jung, +2

American Journal of Medical Genetics

OA1 Mutations and Deletions in X-Linked Ocular Albinism

Rhonda E. Schnur, Mei Gao, Penelope A. Wick, +20

The American Journal of Human Genetics

Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes

Yao‐Shan Fan, Yang Zhang, Marsha Speevak, +3

Genetics in Medicine

Submicroscopic AberrationsOphthalmologyBiomedical ImagingDiagnosisMultiple Subtelomeric Probes +3

The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene

Mark Trifiro, Bruce Gottlieb, Leonard Pinsky, +12

Molecular and Cellular Endocrinology

AndrologyHormonal ReceptorKda Androgen-binding ProteinGynecologyPathology +7

Sensitivity of Multiple Color Spectral Karyotyping in Detecting Small Interchromosomal Rearrangements

Yao‐Shan Fan, Victoria Mok Siu, Jack H. Jung, +1

Genetic Testing

Complex RearrangementsCytogeneticsGeneticsDna AnalysisMolecular Biology +17

Mammalian lymphocytes: stress-induced synthesis of heat-shock proteins <i>in vitro</i> and <i>in vivo</i>

David I. Rodenhiser, Jack H. Jung, Burr G. Atkinson

Canadian Journal of Biochemistry and Cell Biology

Choroideremia associated with an X-autosomal translocation

Victoria Mok Siu, John R. Gonder, Jack H. Jung, +2

Human Genetics

Biliary TractHistopathologyGynecologyChoroid PlexusMedicine +3