Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.

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Genome-wide association studies identified multiple genetic loci for body size at four growth stages in Chinese Holstein cattle Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies.

P2860

Q33585006-9F0FBE76-291D-40B1-AC0E-CC7C361035AD Q35882550-2AEE0370-9847-493A-B0C1-AD7D9DD0D384

P2860

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.

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http://www.wikidata.org/entity/Q41883386

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2014 nî lūn-bûn

@nan

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

2014年论文

@zh

2014年论文

@zh-cn

name

Interstitial 287 kb deletion o ...... age impairment and overgrowth.

@en

type

Item

label

Interstitial 287 kb deletion o ...... age impairment and overgrowth.

@en

prefLabel

Interstitial 287 kb deletion o ...... age impairment and overgrowth.

@en

P1476

Interstitial 287 kb deletion o ...... uage impairment and overgrowth

@en

P2093

Alexandra Mascarenhas

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

Fabiana Ramos

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

Joana B Melo

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

Luís M Pires

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P2860

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation

Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice

Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

P2888

s13039-014-0087-2

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scholarly article

case report

P356

10.1186/S13039-014-0087-2

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P433

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

P478

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

P50

Isabel M. Carreira

Eunice Matoso

José Ferrão

P577

2014-12-09T00:00:00Z

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P5875

269634660

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P698

25506393

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P932

4265458

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

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.

about

P2860

P2860

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932