Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2

(2011) An Crepel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

The distribution of the seizure-related gene 6 (Sez-6) protein during postnatal development of the mouse forebrain suggests multiple functions for this protein: An analysis using a new antibody

(2011) George Osaki et al.   BRAIN RESEARCH

Clinical report: An interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms

(2011) M. Balasubramanian et al.   European Journal of Medical Genetics

Variations of the Candidate SEZ6L2 Gene on Chromosome 16p11.2 in Patients with Autism Spectrum Disorders and in Human Populations

(2011) Marina Konyukh et al.   PLoS One

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2

(2010) Tanya M. Bardakjian et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family

(2010) Yiping Shen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

(2010) Christian P Schaaf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

(2010) J. Bogdanowicz et al.   JOURNAL OF APPLIED GENETICS

Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome

(2010) Ellen Hanson et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae

(2009) Keiko Shimojima et al.   European Journal of Medical Genetics

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

(2009) B. A. Fernandez et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

(2009) Jill A. Rosenfeld et al.   Journal of Neurodevelopmental Disorders

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Association and Mutation Analyses of 16p11.2 Autism Candidate Genes

(2009) Ravinesh A. Kumar et al.   PLoS One

Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

(2009) Bert van der Zwaag et al.   PLoS One

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion

(2008) Lawrence R. Shiow et al.   CLINICAL IMMUNOLOGY

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE