Macrocephaly associated with the DICER1 syndrome. - sprookjes - yvandenbroek - TriplyDB

Macrocephaly associated with the DICER1 syndrome.

Macrocephaly associated with the DICER1 syndrome.

http://www.wikidata.org/entity/Q37597650

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The prevalence of DICER1 pathogenic variation in population databases.Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.DICER1 Syndrome: DICER1 Mutations in Rare Cancers.

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Macrocephaly associated with the DICER1 syndrome.

http://www.wikidata.org/entity/Q37597650

description

article científic

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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 21 July 2016

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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

Macrocephaly associated with the DICER1 syndrome.

@en

Macrocephaly associated with the DICER1 syndrome.

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type

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Macrocephaly associated with the DICER1 syndrome.

@en

Macrocephaly associated with the DICER1 syndrome.

@nl

prefLabel

Macrocephaly associated with the DICER1 syndrome.

@en

Macrocephaly associated with the DICER1 syndrome.

@nl

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Genetics in Medicine

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Macrocephaly associated with the DICER1 syndrome

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Douglas R Stewart

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Gretchen M Williams

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Laura A Harney

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Leslie Doros

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Louis P Dehner

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Nicholas E Khan

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Ron G Kase

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Rosamma M Decastro

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P2860

Cerebral metastasis and other central nervous system complications of pleuropulmonary blastoma

Primary and metastatic lung tumors in the pediatric population: a review and 25-year experience at a large children's hospital

Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma

Centiles for adult head circumference

Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.

Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.

Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry.

DICER1 mutations in familial pleuropulmonary blastoma.

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model.

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244-248

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scholarly article

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10.1038/GIM.2016.83

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2

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19

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Kris Ann P Schultz

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2016-07-21T00:00:00Z

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27441995

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5253131

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