SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation - Wikidata - wikimedia - TriplyDB

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

http://www.wikidata.org/entity/Q37114387

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Alagille syndrome: pathogenesis, diagnosis and management Alagille syndrome: clinical perspectives Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.Genome-wide identification of copy number variations in Chinese Holstein.Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method.A Newborn with Panhypopituitarism and Seizures.A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.Systematic Review: the Epidemiology, Natural History and Burden of Alagille Syndrome.Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations

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SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

http://www.wikidata.org/entity/Q37114387

description

article científic

@ca

article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on March 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

SNP array mapping of chromosom ...... pes, and copy number variation

@en

SNP array mapping of chromosom ...... es, and copy number variation.

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type

label

SNP array mapping of chromosom ...... pes, and copy number variation

@en

SNP array mapping of chromosom ...... es, and copy number variation.

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prefLabel

SNP array mapping of chromosom ...... pes, and copy number variation

@en

SNP array mapping of chromosom ...... es, and copy number variation.

@nl

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SNP array mapping of chromosom ...... pes, and copy number variation

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Binita M Kamath

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

Brian D Thiel

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Daniel M Warthen

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David A Piccoli

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Dinah Clark

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Ercan Mihci

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Hakon Hakonarson

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Ian D Krantz

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Laura K Conlin

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Nancy B Spinner

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Fine-scale structural variation of the human genome

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

Global variation in copy number in the human genome

Detection of large-scale variation in the human genome

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

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371-378

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scholarly article

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10.1002/HUMU.20863

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3

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30

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Struan F.A. Grant

Joseph Glessner

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2009-03-01T00:00:00Z

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23573104

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19058200

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2650004

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