17p13.1 microdeletion: Genetic and clinical findings in a new patient with epilepsy and comparison with literature

Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

(2012) Susan Zeesman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes

(2010) Adam Shlien et al.   AMERICAN JOURNAL OF HUMAN GENETICS

17p13.1 microdeletion involving theTP53gene in a boy presenting with mental retardation but no tumor

(2010) Caroline Schluth-Bolard et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

(2010) Yuta Komoike et al.   JOURNAL OF HUMAN GENETICS

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

(2009) A.C.V. Krepischi-Santos et al.   CYTOGENETIC AND GENOME RESEARCH

Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs

(2009) J. C. Darnell et al.   HUMAN MOLECULAR GENETICS

Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions

(2009) Daniel C. Chung et al.   JOURNAL OF AAPOS

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing

(2009) T Schwarzbraun et al.   JOURNAL OF MEDICAL GENETICS

Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay

(2008) Margaret P. Adam et al.   JOURNAL OF PEDIATRICS