A novel Xp22.13 microdeletion in Nance-Horan syndrome.

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Retinoic acid-induced 2 (RAI2) is a novel tumor suppressor, and promoter region methylation of RAI2 is a poor prognostic marker in colorectal cancer.

P2860

Q55351079-BE6355B1-0C68-4962-BCDA-19804D5130E6

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A novel Xp22.13 microdeletion in Nance-Horan syndrome.

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http://www.wikidata.org/entity/Q54141361

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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name

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

@en

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

@nl

type

Item

label

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

@en

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

@nl

prefLabel

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

@en

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

@nl

P1476

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

@en

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Andrea Accogli

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

Francesca Madia

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

Francesca Pinto

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

Maria Stella Vari

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

Monica Traverso

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

Tommaso Bellini

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

Valeria Capra

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

P2860

Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid-induced gene in Xp22

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

SCML2 establishes the male germline epigenome through regulation of histone H2A ubiquitination.

RAI2: Linking Retinoic Acid Signaling with Metastasis Suppression.

Retinoic acid and the heart.

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.

Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.

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866-868

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scholarly article

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10.1002/BDR2.1032

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109

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2017-05-02T00:00:00Z

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P698

28464487

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A novel Xp22.13 microdeletion in Nance-Horan syndrome.

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P2860

P2860

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698