6q22.1 microdeletion and susceptibility to pediatric epilepsy
暂无分享,去创建一个
J. Rosenfeld | L. Shaffer | P. Stankiewicz | P. Szafranski | S. Kang | S. Cheung | S. Lalani | B. Graham | W. Bi | J. Moeschler | A. Wilfong | Sung-Hae L. Kang | G. V. Allmen | J. Ferreira | Sheila J Upton | Sheila Upton
[1] G. Carvill,et al. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability , 2013, Neurology.
[2] J. Rosenfeld,et al. NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits , 2013, Genome research.
[3] H. Mefford,et al. The unexpected role of copy number variations in juvenile myoclonic epilepsy , 2013, Epilepsy & Behavior.
[4] I. Scheffer,et al. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy , 2013, American journal of medical genetics. Part A.
[5] Anna Gambin,et al. Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders , 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[6] P. Stankiewicz,et al. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. , 2012, Human molecular genetics.
[7] J. Rosenfeld,et al. Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases , 2012, neurogenetics.
[8] I. Scheffer,et al. Rare copy number variants are an important cause of epileptic encephalopathies , 2011, Annals of neurology.
[9] J. Rosenfeld,et al. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function , 2011, European Journal of Human Genetics.
[10] H. Mefford,et al. Genetic contribution to common epilepsies. , 2011, Current opinion in neurology.
[11] P. Stankiewicz,et al. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. , 2010, American journal of human genetics.
[12] P. Stankiewicz,et al. Detection of clinically relevant exonic copy‐number changes by array CGH , 2010, Human mutation.
[13] M. Schwab. Functions of Nogo proteins and their receptors in the nervous system , 2010, Nature Reviews Neuroscience.
[14] P. Stankiewicz,et al. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? , 2010, Human mutation.
[15] J. Rosenfeld,et al. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome , 2010, European Journal of Human Genetics.
[16] Michael R. Johnson,et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. , 2010, American journal of human genetics.
[17] Ulrich Stephani,et al. Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies , 2010, PLoS genetics.
[18] C. Walsh,et al. Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+ , 2009, Neurology.
[19] A. Dávalos,et al. Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol trafficking. , 2009, Cell metabolism.
[20] J. Lupski,et al. Mechanisms of change in gene copy number , 2009, Nature Reviews Genetics.
[21] L. Shaffer,et al. Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2 , 2008, Clinical genetics.
[22] Ravi Sachidanandam,et al. Developmentally Regulated piRNA Clusters Implicate MILI in Transposon Control , 2007, Science.
[23] S. Strittmatter,et al. Identification of a receptor necessary for Nogo-B stimulated chemotaxis and morphogenesis of endothelial cells. , 2006, Proceedings of the National Academy of Sciences of the United States of America.
[24] A. Battaglia,et al. Chromosomal disorders associated with epilepsy. , 2005, Epileptic disorders : international epilepsy journal with videotape.
[25] T. Satoh,et al. Tissue-specific mRNA expression profiles of human solute carrier 35 transporters. , 2009, Drug metabolism and pharmacokinetics.