(Q56770951)

Marco Tartaglia

17

0 references

William B. Dobyns

William B Dobyns

7

0 references

Marni E Axelrad

5

Marni E Axelrad

0 references

Karen Gripp

1

Karen W Gripp

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author name string

Elizabeth Hopkins

2

0 references

Katia Sol-Church

3

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Deborah L Stabley

4

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Daniel Doyle

6

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Cindy Hudson

8

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John Johnson

9

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Romano Tenconi

10

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Gail E Graham

11

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Raoul Heller

13

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Maria Piccione

14

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Giovanni Corsello

15

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Gail E Herman

16

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Angela E Lin

American Journal of Medical Genetics

18

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language of work or name

English

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publication date

April 2011

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published in

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volume

155A

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issue

4

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page(s)

706-16

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cites work

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Practical guidelines for evaluation of loose anagen hair syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Analysis of the transforming potential of the human H-ras gene by random mutagenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Elements of morphology: standard terminology for the periorbital region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

An unexpected new role of mutant Ras: perturbation of human embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Further delineation of cardiac abnormalities in Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Noonan-like syndrome with loose anagen hair: a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Considerations for a multiaxis nomenclature system for medical genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Long eyelashes in a case series of 93 children with vernal keratoconjunctivitis.

21 January 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166651

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

2 November 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33884

Paternal bias in parental origin of HRAS mutations in Costello syndrome

21 January 2018

1 reference

12 December 2020

Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?

1 reference

12 December 2020

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

1 reference

12 December 2020

Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome

1 reference

12 December 2020