Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

A child with terminal 14q deletion syndrome: Consideration of genotype-phenotype correlations

(2009) Kamilla Schlade-Bartusiak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability

(2009) John B Moeschler   CURRENT OPINION IN NEUROLOGY

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

(2009) Nuala H Sykes et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3)

(2008) Joanna Bernaciak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation

(2008) Tiziano Pramparo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

(2008) Lina Shao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Array comparative genomic hybridization in global developmental delay

(2008) M.I. Shevell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Novel de novo SHANK3 mutation in autistic patients

(2008) Julie Gauthier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Clinical Utility of Array CGH for the Detection of Chromosomal Imbalances Associated with Mental Retardation and Multiple Congenital Anomalies

(2008) Lisa Edelmann et al.   Annals of the New York Academy of Sciences

Genetics of intellectual disability

(2008) H Hilger Ropers   CURRENT OPINION IN GENETICS & DEVELOPMENT

Microcephalin/MCPH1 Associates with the Condensin II Complex to Function in Homologous Recombination Repair

(2008) Jamie L. Wood et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

(2008) C. D. Coldren et al.   NEUROGENETICS

Deletion 22q13.3 syndrome

(2008) Mary C Phelan   Orphanet Journal of Rare Diseases

Global Developmental Delay and Mental Retardation or Intellectual Disability: Conceptualization, Evaluation, and Etiology

(2008) Michael Shevell   PEDIATRIC CLINICS OF NORTH AMERICA