4.2 Article

Co-Occurring SHOC2 and PTPN11 Mutations in a Patient With Severe/Complex Noonan Syndrome-Like Phenotype

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Simone Martinelli et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Biochemistry & Molecular Biology

PTPN11 and KRAS Gene Analysis in Patients with Noonan and Noonan-Like Syndromes

Amanda Salem Brasil et al.

GENETIC TESTING AND MOLECULAR BIOMARKERS (2010)

Article Genetics & Heredity

A restricted spectrum of NRAS mutations causes Noonan syndrome

Ion C. Cirstea et al.

NATURE GENETICS (2010)

Article Genetics & Heredity

Independent NF1 and PTPN11 Mutations in a Family With Neurofibromatosis-Noonan Syndrome

Christian Thiel et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Review Cell Biology

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

William E. Tidyman et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2009)

Review Oncology

The tyrosine phosphatase Shp2 (PTPN11) in cancer

Gordon Chan et al.

CANCER AND METASTASIS REVIEWS (2008)

Article Pediatrics

Costello syndrome: clinical diagnosis in the first year of life

M. Cristina Digilio et al.

EUROPEAN JOURNAL OF PEDIATRICS (2008)

Review Genetics & Heredity

Clinical and molecular aspects of RAS related disorders

E. Denayer et al.

JOURNAL OF MEDICAL GENETICS (2008)

Article Genetics & Heredity

Noonan and cardio-facio-cutaneous syndromes:: two clinically and genetically overlapping disorders

A.-M. Nystrom et al.

JOURNAL OF MEDICAL GENETICS (2008)

Article Genetics & Heredity

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

M. Abdur Razzaque et al.

NATURE GENETICS (2007)

Review Biotechnology & Applied Microbiology

Post-translational modifications and regulation of the RAS superfamily of GTPases as anticancer targets

Panagiotis A. Konstantinopoulos et al.

NATURE REVIEWS DRUG DISCOVERY (2007)

Review Genetics & Heredity

Noonan syndrome

Ineke van der Burgt

ORPHANET JOURNAL OF RARE DISEASES (2007)

Article Genetics & Heredity

Mild variable Noonan syndrome in a family with a novel PTPN11 mutation

Martin Zenker et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2007)

Review Oncology

Hyperactive Ras in developmental disorders and cancer

Suzanne Schubbert et al.

NATURE REVIEWS CANCER (2007)

Article Genetics & Heredity

Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

DR Bertola et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Genetics & Heredity

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

L Mazzanti et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)

Article Genetics & Heredity

Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol

KW Gripp et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)