Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
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Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practicePalmitoylation of gephyrin controls receptor clustering and plasticity of GABAergic synapses9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingSPTAN1 encephalopathy: distinct phenotypes and genotypes.Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Proteomic Profiling of Cranial (Superior) Cervical Ganglia Reveals Beta-Amyloid and Ubiquitin Proteasome System Perturbations in an Equine Multiple System NeuropathyNonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.A network view on Parkinson's disease.Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.Whole-genome sequencing of quartet families with autism spectrum disorder.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.Reduction of bilateral dislocation of TMJ and Rendu Osler Weber syndrome: case report and physiopathological model.Submicroscopic chromosomal imbalances contribute to early abortion
P2860
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P2860
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Novel 9q34.11 gene deletions e ...... TXBP1, SPTAN1, ENG, and TOR1A.
@ast
Novel 9q34.11 gene deletions e ...... TXBP1, SPTAN1, ENG, and TOR1A.
@en
type
label
Novel 9q34.11 gene deletions e ...... TXBP1, SPTAN1, ENG, and TOR1A.
@ast
Novel 9q34.11 gene deletions e ...... TXBP1, SPTAN1, ENG, and TOR1A.
@en
prefLabel
Novel 9q34.11 gene deletions e ...... TXBP1, SPTAN1, ENG, and TOR1A.
@ast
Novel 9q34.11 gene deletions e ...... TXBP1, SPTAN1, ENG, and TOR1A.
@en
P2093
P2860
P356
P1433
P1476
Novel 9q34.11 gene deletions e ...... TXBP1, SPTAN1, ENG, and TOR1A.
@en
P2093
Bassem A Bejjani
Cynthia Curry
Fernando Scaglia
James J Riviello
James R Lupski
James W Wheless
Jill A Rosenfeld
Leona Fishman
Lisa G Shaffer
P2860
P2888
P304
P356
10.1038/GIM.2012.65
P407
P577
2012-06-21T00:00:00Z