Noonan Syndrome

Noonan Syndrome is a genetic disorder characterized by unusual facial features, heart defects and other phenotypes. Mutations in the RAS/MAPK signaling pathway account for the majority of cases. Discover the latest research on Noonan Syndrome here.

June 9, 2020
Case Report

Combined cardiac anomalies in Noonan syndrome: A case report

International Journal of Surgery Case Reports
Natraj Setty H SC N Manjunath
March 30, 2020
Case Report

KBG syndrome in two patients from Egypt

American Journal of Medical Genetics. Part a
Inas S M SayedGhada M H Abdel-Salam
March 20, 2020
Open Access

Abortion for Fetal Genetic Abnormalities: Type of Abnormality and Gestational Age at Diagnosis

AJP Reports
Tracy B Grossman, Stephen T Chasen
May 6, 2020

Production and Purification of Zika Virus NS1 Glycoprotein in HEK293 Cells

Methods in Molecular Biology
Young Chan KimArturo Reyes-Sandoval
March 13, 2020

Noonan Syndrome: Common Molecular Alterations and the Consequences

Journal of the Association of Genetic Technologists
Casey RankinsJuli-Anne Gardner
June 2, 2020
Open Access

Growth hormone treatment at Nippon Medical School Chiba Hokusoh Hospital

Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi
Eri KuramochiTakeshi Asano
March 17, 2020

The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking

Circulation Research
Raj Nayan SewduthAnna Sablina
June 10, 2020

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

European Journal of Human Genetics : EJHG
Luca FerrariPaola Riva
March 14, 2020
Open Access

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

BMC Medical Genetics
Jeevana Praharsha AthotaSwathi Shetty
March 10, 2020

Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance

Circulation. Genomic and Precision Medicine
Sara HossArnon Adler
June 6, 2020

The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension

The Journal of Pediatrics
Meindina G HaarmanRolf M F Berger
March 19, 2020

GTP hydrolysis is modulated by Arg34 in the RASopathy-associated KRASP34R

Birth Defects Research
Asim K BeraKenneth D Westover
June 5, 2020

Noonan syndrome: genetic and clinical update and treatment options

Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)
Atilano CarcavillaJuan Pedro López-Siguero

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