(Q56770882)

1

object named as

Karen W Gripp

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author name string

Dina J Zand

2

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Laurie Demmer

3

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Carol E Anderson

4

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Elaine H Zackai

6

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Elizabeth Denenberg

7

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Kim Jenny

8

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Deborah L Stabley

9

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Katia Sol-Church

American Journal of Medical Genetics

10

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language of work or name

English

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publication date

October 2013

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published in

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volume

161A

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issue

10

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page(s)

2420-30

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cites work

Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Chiari (type 1) malformation and syringomyelia in a patient with Noonan's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Leopard syndrome and Chiari type I malformation: a case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

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.36098

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.36098

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Type 1 Arnold???Chiari malformation and Noonan syndrome. A new diagnostic feature?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Association between Noonan syndrome and Chiari I malformation: a case-based update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

A gain-of-function mutation of JAK2 in myeloproliferative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: an Olmsted County Study, 1976-1995.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Janus kinases: components of multiple signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Hyperactive Ras in developmental disorders and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Activating CBL mutations are associated with a distinct MDS/MPN phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Neurological complications of cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Benign external hydrocephalus: a review, with emphasis on management

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36098

Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype

1 reference

12 December 2020

Cerebral anomalies and Chiari type 1 malformation

1 reference

12 December 2020

Sudden onset of Chiari malformation Type I in previously asymptomatic patients

1 reference

12 December 2020

Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations

1 reference

12 December 2020

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype

1 reference

12 December 2020

Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome

1 reference

12 December 2020