Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms

De novo 13q31.1-q32.1 interstitial deletion encompassing themiR-17-92cluster in a patient with Feingold syndrome-2

(2013) E. Tassano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4

(2013) Arnaud Molin et al.   European Journal of Medical Genetics

Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders

(2013) Maria Tropeano et al.   PLoS One

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability

(2012) Y Qiao et al.   CLINICAL GENETICS

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: Case report and critical review of the literature

(2012) Orazio Palumbo et al.   GENE

Microdeletion and Microduplication Syndromes

(2012) Anja Weise et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction

(2012) Bin Xu et al.   NEUROBIOLOGY OF DISEASE

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

(2011) M. H. Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Functions of Noncoding RNAs in Neural Development and Neurological Diseases

(2011) Shan Bian et al.   MOLECULAR NEUROBIOLOGY

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

(2011) Loïc de Pontual et al.   NATURE GENETICS

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

(2010) Guénola Ricard et al.   PLOS BIOLOGY

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Effects of chronic continuous hypoxia on the expression of SLC4A8 (NDCBE) in neonatal versus adult mouse brain

(2008) Li-Ming Chen et al.   BRAIN RESEARCH

Proteomic analysis of membrane microdomain-associated proteins in the dorsolateral prefrontal cortex in schizophrenia and bipolar disorder reveals alterations in LAMP, STXBP1 and BASP1 protein expression

(2008) ÁT Behan et al.   MOLECULAR PSYCHIATRY