Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter.

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A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).Retrospective karyotype study in mentally retarded patients.

P2860

Q34050961-7E52B594-9927-4F5A-B3A2-5CE70638E104 Q48000318-309CFD0C-6FF0-431C-BE7B-4194AC280C9D

P2860

Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter.

Item

http://www.wikidata.org/entity/Q51958561

description

2002 nî lūn-bûn

@nan

2002年の論文

@ja

2002年学术文章

@wuu

2002年学术文章

@zh

2002年学术文章

@zh-cn

2002年学术文章

@zh-hans

2002年学术文章

@zh-my

2002年学术文章

@zh-sg

2002年學術文章

@yue

2002年學術文章

@zh-hant

name

Girl with combined cellular im ...... , and trisomy 8q24.3 --> qter.

@en

Girl with combined cellular im ...... , and trisomy 8q24.3 --> qter.

@nl

type

Item

label

Girl with combined cellular im ...... , and trisomy 8q24.3 --> qter.

@en

Girl with combined cellular im ...... , and trisomy 8q24.3 --> qter.

@nl

prefLabel

Girl with combined cellular im ...... , and trisomy 8q24.3 --> qter.

@en

Girl with combined cellular im ...... , and trisomy 8q24.3 --> qter.

@nl

P1476

Girl with combined cellular im ...... , and trisomy 8q24.3 --> qter.

@en

P2093

Oivi Uibo

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

Oliver Bartsch

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

Piret Laidre

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

P2860

[Jacobsen's syndrome, thrombopenia and humoral immunodeficiency]

An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.

Localization of the gene encoding R kappa B (NFRKB), a tissue-specific DNA binding protein, to chromosome 11q24-q25.

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

Yeast artificial chromosome cloning of 3.2 megabases within chromosomal band 11q24 closely linking c-ets 1 and Fli-1 and encompassing the Ewing sarcoma breakpoint.

Two craniosynostotic patients with 11q deletions, and review of 48 cases.

Defective activation and survival of T cells lacking the Ets-1 transcription factor.

Immunodeficiency as a component of recognizable syndromes.

Searching for genes involved in the pathogenesis of primary immunodeficiency diseases: lessons from mouse knockouts.

Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome.

P304

322-326

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P31

scholarly article

P356

10.1002/AJMG.10284

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P433

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

P478

108

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P50

Katrin Õunap

P577

2002-04-01T00:00:00Z

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P698

11920839

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Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter.

about

P2860

P2860

Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter.

description

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698