Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. - Wikidata - awgldk - TriplyDB

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

http://www.wikidata.org/entity/Q34542269

about

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly Genetic considerations in the prenatal diagnosis of overgrowth syndromes Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability The DNA sequence and comparative analysis of human chromosome 5 Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.Sotos syndrome.Camptodactyly in Sotos syndrome.Disorders caused by chromosome abnormalities.The ongoing dissection of the genetic architecture of autistic spectrum disorder Clinical and molecular heterogeneity in brazilian patients with sotos syndrome.Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.Molecular basis of Sotos syndrome.Identification of disease genes by whole genome CGH arrays.Generation of the Sotos syndrome deletion in mice.A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture.Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.Towards an evidence-based process for the clinical interpretation of copy number variation Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.Duplication hotspots, rare genomic disorders, and common disease.Hormonal and genetical assessment of a Japanese girl with weaver syndrome.Commonest overgrowth syndromes.Child development and structural variation in the human genome.Autism spectrum disorders: the quest for genetic syndromes.Examining the impact of gene variants on histone lysine methylation Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.SRinversion: a tool for detecting short inversions by splitting and re-aligning poorly mapped and unmapped sequencing reads.Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.Identification of novel genomic imbalances in Saudi patients with congenital heart disease.Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.Cleft Lip and Palate in a Patient with 5q35.2-q35.3 Microdeletion: The Importance of Chromosomal Microarray Testing in the Craniofacial Clinic.Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.Diagnosing Sotos syndrome in the setting of global developmental delay and macrocephaly.

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P2860

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

http://www.wikidata.org/entity/Q34542269

description

2003 nî lūn-bûn

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2003 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2003 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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Fifty microdeletions among 112 ...... y mediate the common deletion.

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Fifty microdeletions among 112 ...... y mediate the common deletion.

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Fifty microdeletions among 112 ...... y mediate the common deletion.

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Dorit Lev

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Hirofumi Ohashi

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Hiroshi Kawame

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Jan-Fang Cheng

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Junji Nishimoto

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Kenji Kurosawa

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Kimiaki Uetake

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Koh-ichiro Yoshiura

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Livija Medne

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Mayumi Touyama

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10.1002/HUMU.10270

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5

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22

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Takashi Shiihara

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9073185

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