Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

(2013) Duncan B. Sparrow et al.   HUMAN MOLECULAR GENETICS

Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes

(2012) A. Blaker-Lee et al.   Disease Models & Mechanisms

Intra-Familial Tests of Association between Familial Idiopathic Scoliosis and Linked Regions on 9q31.3–q34.3 and 16p12.3–q22.2

(2012) Nancy H. Miller et al.   HUMAN HEREDITY

Polygenic Threshold Model with Sex Dimorphism in Adolescent Idiopathic Scoliosis: The Carter Effect

(2012) Lisa M Kruse et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

(2012) Flore Zufferey et al.   JOURNAL OF MEDICAL GENETICS

Heritability of scoliosis

(2011) Anna Grauers et al.   EUROPEAN SPINE JOURNAL

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes

(2011) Swarkar Sharma et al.   HUMAN MOLECULAR GENETICS

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Polygenic inheritance of adolescent idiopathic scoliosis: A study of extended families in Utah

(2010) Kenneth Ward 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

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

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

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