Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.

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http://www.wikidata.org/entity/Q33287971

Q33287971

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Obsessive-compulsive disorder and related disorders: a comprehensive survey Genetic architecture of skin and eye color in an African-European admixed population The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region A genome-wide investigation of SNPs and CNVs in schizophrenia.High rates of de novo 15q11q13 inversions in human spermatozoa.Genomic profile of copy number variants on the short arm of human chromosome 8.Genetically complex epilepsies, copy number variants and syndrome constellations.Monogenic and chromosomal causes of isolated speech and language impairment.The phenotype of recurrent 10q22q23 deletions and duplications.Epilepsy and the new cytogenetics.Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes The human sex ratio from conception to birth.Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating Closing gaps in the human genome using sequencing by synthesis Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.Common inversion polymorphisms and rare microdeletions at 15q13.3.Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy Clinical utility gene card for: 15q13.3 microdeletion syndrome.De novo assembly and phasing of a Korean human genome.Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.Endogenous CHRNA7-ligand SLURP1 as a potential tumor suppressor and anti-nicotinic factor in pancreatic cancer.Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature.Identification of copy number variants on human chromosome 22 in patients with a variety of clinical findings.

P2860

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P2860

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.

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http://www.wikidata.org/entity/Q33287971

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2007 nî lūn-bûn

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2007 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2007 թվականի հունվարին հրատարակված գիտական հոդված

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2007年の論文

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