Literature DB >> 17639592

Noonan syndrome.

Judith E Allanson1.   

Abstract

Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits. (c) 2007 Wiley-Liss, Inc.

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Year:  2007        PMID: 17639592     DOI: 10.1002/ajmg.c.30138

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.908


  28 in total

1.  Noonan syndrome: clinical aspects and molecular pathogenesis.

Authors:  M Tartaglia; G Zampino; B D Gelb
Journal:  Mol Syndromol       Date:  2010-01-15

2.  Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.

Authors:  Peng-Chieh Chen; Hiroko Wakimoto; David Conner; Toshiyuki Araki; Tao Yuan; Amy Roberts; Christine E Seidman; Roderick Bronson; Benjamin G Neel; Jonathan G Seidman; Raju Kucherlapati
Journal:  J Clin Invest       Date:  2010-12       Impact factor: 14.808

3.  When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience.

Authors:  Marcello Scala; Pietro Fiaschi; Valeria Capra; Maria Luisa Garrè; Domenico Tortora; Marcello Ravegnani; Marco Pavanello
Journal:  Childs Nerv Syst       Date:  2018-05-24       Impact factor: 1.475

4.  Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.

Authors:  Anna Papadopoulou; Michalis Issakidis; Evangelia Gole; Konstantina Kosma; Helen Fryssira; Andreas Fretzayas; Polyxeni Nicolaidou; Sophia Kitsiou-Tzeli
Journal:  Eur J Pediatr       Date:  2011-05-18       Impact factor: 3.183

5.  Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

Authors:  E A Croonen; W Nillesen; C Schrander; M Jongmans; H Scheffer; C Noordam; J M T Draaisma; I van der Burgt; H G Yntema
Journal:  Mol Syndromol       Date:  2013-05-08

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

Authors:  Simone Martinelli; Alessandro De Luca; Emilia Stellacci; Cesare Rossi; Saula Checquolo; Francesca Lepri; Viviana Caputo; Marianna Silvano; Francesco Buscherini; Federica Consoli; Grazia Ferrara; Maria C Digilio; Maria L Cavaliere; Johanna M van Hagen; Giuseppe Zampino; Ineke van der Burgt; Giovanni B Ferrero; Laura Mazzanti; Isabella Screpanti; Helger G Yntema; Willy M Nillesen; Ravi Savarirayan; Martin Zenker; Bruno Dallapiccola; Bruce D Gelb; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2010-07-08       Impact factor: 11.025

7.  Pulmonary stenosis as a predisposing factor for infective endocarditis in a patient with Noonan syndrome.

Authors:  Ali Can Hatemi; Mete Gursoy; Aybala Tongut; Burcu Bicakhan; Alper Guzeltas; Gurkan Cetin; Erhan Kansiz
Journal:  Tex Heart Inst J       Date:  2010

Review 8.  Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Authors:  Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober
Journal:  Genet Med       Date:  2008-07       Impact factor: 8.822

9.  Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.

Authors:  John M Graham; Nancy Kramer; Bassem A Bejjani; Christian T Thiel; Claudio Carta; Giovanni Neri; Marco Tartaglia; Martin Zenker
Journal:  Am J Med Genet A       Date:  2009-10       Impact factor: 2.802

10.  Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development.

Authors:  Tomoki Nakamura; James Gulick; Melissa C Colbert; Jeffrey Robbins
Journal:  Proc Natl Acad Sci U S A       Date:  2009-06-18       Impact factor: 11.205

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