(Q83322980)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206176%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism (English)

1 reference

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21 January 2020

1 reference

8

Karen W Gripp

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21 January 2020

author name string

Katia Sol-Church

1

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21 January 2020

Deborah L Stabley

2

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21 January 2020

Laurie A Demmer

3

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21 January 2020

Abigail Agbulos

4

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21 January 2020

Angela E Lin

5

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21 January 2020

Leslie Smoot

6

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21 January 2020

Linda Nicholson

7

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21 January 2020

publication date

1 March 2009

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American Journal of Medical Genetics

21 January 2020

published in

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21 January 2020

volume

149A

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21 January 2020

issue

3

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21 January 2020

page(s)

315-321

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Costello syndrome in two siblings and minor manifestations in their mother. Further evidence for autosomal dominant inheritance?

21 January 2020

cites work

1 reference

12 December 2020

The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

1 reference

12 December 2020

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

1 reference

12 December 2020

The adult phenotype in Costello syndrome.

1 reference

12 December 2020

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

12 December 2020

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

1 reference

12 December 2020

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

1 reference

12 December 2020

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

1 reference

12 December 2020

Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

1 reference

12 December 2020

Paternal bias in parental origin of HRAS mutations in Costello syndrome

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12 December 2020

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

1 reference

12 December 2020

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

1 reference

12 December 2020

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

1 reference

12 December 2020

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

1 reference

12 December 2020

Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32639

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21 January 2020

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21 January 2020

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