Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome - Wikidata - awgldk - TriplyDB

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

http://www.wikidata.org/entity/Q28211555

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SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes Auditory capacities in Middle Pleistocene humans from the Sierra de Atapuerca in Spain.Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.Balancing cell numbers during organogenesis: Six1a differentially affects neurons and sensory hair cells in the inner ear.Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks Complex human chromosomal and genomic rearrangements.The preauricular sinus: a review of its clinical presentation, treatment, and associations.Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.Congenital anomalies of the kidney and urinary tract: an embryogenetic review.Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.Novel EYA1 variants causing Branchio-oto-renal syndrome.Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

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Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

http://www.wikidata.org/entity/Q28211555

description

2002 nî lūn-bûn

@nan

2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

@ast

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

@en

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

@nl

type

label

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

@ast

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

@en

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

@nl

prefLabel

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

@ast

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

@en

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

@nl

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SJ.EJHG.5200877

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European Journal of Human Genetics

P1476

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

@en

P2093

Albert Abbott

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

Charles E Schwartz

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

Jane O'Brien

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

Richard Schroer

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

Roger E Stevenson

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

Virginie S Vervoort

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

P2860

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13.

Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.

Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.

Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene.

Monoallelic mutation analysis (MAMA) for identifying germline mutations.

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sj.ejhg.5200877

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757-766

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scholarly article

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10.1038/SJ.EJHG.5200877

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11

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10

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Richard J Smith

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2002-11-01T00:00:00Z

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11060156

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12404110

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