Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

Molecular and Phenotypic Characterization of Ring Chromosome 22 in Two Unrelated Patients

(2013) H. Hannachi et al.   CYTOGENETIC AND GENOME RESEARCH

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

(2013) Latha Soorya et al.   Molecular Autism

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

(2012) Kimberly A. Aldinger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

(2012) Luigi Boccuto et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Growth in Phelan-McDermid syndrome

(2011) Jonathan D. Rollins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism

(2011) D. Misceo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

(2011) S. M. Sarasua et al.   JOURNAL OF MEDICAL GENETICS

Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies

(2011) Andreas M. Grabrucker et al.   TRENDS IN CELL BIOLOGY

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

(2011) Maria Clara Bonaglia et al.   PLoS Genetics

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

(2010) S.U. Dhar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

(2009) A. Delahaye et al.   European Journal of Medical Genetics

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements

(2009) L R Rowe et al.   JOURNAL OF MEDICAL GENETICS

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

(2009) Catalina Betancur et al.   TRENDS IN NEUROSCIENCES

Inverted duplication with terminal deletion of 5p and no cat-like cry

(2008) Jia-Chi Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel de novo SHANK3 mutation in autistic patients

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

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

(2008) Heather L Wilson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

(2008) A. Philippe et al.   PEDIATRICS