A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea - Wikidata - awgldk - TriplyDB

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

http://www.wikidata.org/entity/Q33969460

about

Chromosome microarray analysis in the investigation of children with congenital heart disease.Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause.Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

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P2860

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

http://www.wikidata.org/entity/Q33969460

description

2014 nî lūn-bûn

@nan

2014 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

@ast

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

@en

type

label

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

@ast

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

@en

prefLabel

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

@ast

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

@en

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P356

KJP.2014.57.6.292

P1433

Korean journal of pediatrics

P1476

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

@en

P2093

Burm Seok Oh

http://www.w3.org/2001/XMLSchema#string

Hee Na Kim

http://www.w3.org/2001/XMLSchema#string

Joo Hyun Cho

http://www.w3.org/2001/XMLSchema#string

Young Youn Choi

http://www.w3.org/2001/XMLSchema#string

P2860

New deletion syndrome: 1q43

Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female.

Delineation of the cryptic 1qter deletion phenotype.

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

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292-296

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scholarly article

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10.3345/KJP.2014.57.6.292

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6

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57

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2014-06-30T00:00:00Z

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264393482

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25076975

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4115071

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