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

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

The UCSC Genome Browser database: update 2011

(2010) P. A. Fujita et al.   NUCLEIC ACIDS RESEARCH

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

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

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

(2009) L Roos 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