Literature DB >> 18386799

The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.

Bronwyn Kerr1, Judith Allanson, Marie Ange Delrue, Karen W Gripp, Didier Lacombe, Angela E Lin, Katherine A Rauen.   

Abstract

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Year:  2008        PMID： 18386799     DOI： 10.1002/ajmg.a.32273

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

1.  Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

Authors:  Angela E Lin; Barbara O'Brien; Laurie A Demmer; Kristina K Almeda; Cynthia L Blanco; Patrick F Glasow; Charles I Berul; Robert Hamilton; A Micheil Innes; Julie L Lauzon; Katia Sol-Church; Karen W Gripp
Journal:  Prenat Diagn       Date:  2009-07       Impact factor: 3.050

2.  Clinical and Molecular Findings of Tunisian Patients with RASopathies.

Authors:  Rim Louati; N Bouayed Abdelmoula; Imen Trabelsi; Dorra Abid; Christina Lissewski; Najla Kharrat; Samir Kamoun; Martin Zenker; Tarek Rebai
Journal:  Mol Syndromol       Date:  2014-05-23

3.  Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

Authors:  Katia Sol-Church; Deborah L Stabley; Laurie A Demmer; Abigail Agbulos; Angela E Lin; Leslie Smoot; Linda Nicholson; Karen W Gripp
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802

4.  [Costello syndrome: report of a case].

Authors:  Mariam Tajir; Patricia Fergelot; Gwenaelle Lancelot; Benoit Arveiler; Siham Chafai Elalaoui; Didier Lacombe; Abdelaziz Sefiani
Journal:  Pan Afr Med J       Date:  2012-07-04

Review 5.  EGFR-ras-raf signaling in epidermal stem cells: roles in hair follicle development, regeneration, tissue remodeling and epidermal cancers.

Authors:  Eszter Doma; Christian Rupp; Manuela Baccarini
Journal:  Int J Mol Sci       Date:  2013-09-25       Impact factor: 5.923

6.  A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation.

Authors:  Katsuhiko Nishihara; Mikiko Tohyama; Akiharu Kubo
Journal:  Pediatr Dermatol       Date:  2019-03-12       Impact factor: 1.588

7.  A Heterozygous Missense Variant in MAP2K2 in a Stillborn Romagnola Calf with Skeletal-Cardio-Enteric Dysplasia.

Authors:  Joana G P Jacinto; Irene M Häfliger; Arcangelo Gentile; Cord Drögemüller
Journal:  Animals (Basel)       Date:  2021-06-29       Impact factor: 2.752
  7 in total

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