Literature DB >> 9728990

Epidermal mosaicism producing localised acne: somatic mutation in FGFR2.

C S Munro, A O Wilkie.   

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Year:  1998        PMID： 9728990     DOI： 10.1016/S0140-6736(05)60820-3

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  17 in total

1.  Piecing together the puzzle of cutaneous mosaicism.

Authors:  Amy S Paller
Journal:  J Clin Invest       Date:  2004-11       Impact factor: 14.808

2.  Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Authors:  W Reardon; A Smith; J W Honour; P Hindmarsh; D Das; G Rumsby; I Nelson; S Malcolm; L Adès; D Sillence; D Kumar; C DeLozier-Blanchet; S McKee; T Kelly; W L McKeehan; M Baraitser; R M Winter
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 3.  Distinct mechanisms underlie pattern formation in the skin and skin appendages.

Authors:  Randall B Widelitz; Ruth E Baker; Maksim Plikus; Chih-Min Lin; Philip K Maini; Ralf Paus; Cheng Ming Chuong
Journal:  Birth Defects Res C Embryo Today       Date:  2006-09

4.  Role of FGFR2-signaling in the pathogenesis of acne.

Authors:  Bodo C Melnik
Journal:  Dermatoendocrinol       Date:  2009-05

5.  Nevus Comedonicus With Acne Vulgaris and Obesity.

Authors:  Caterina Mazzella; Gabriella Fabbrocini; Maria Antonietta Luciano; Sara Cacciapuoti
Journal:  Dermatol Pract Concept       Date:  2019-12-31

6.  Somatic Mutations in NEK9 Cause Nevus Comedonicus.

Authors:  Jonathan L Levinsohn; Jeffrey L Sugarman; Jennifer M McNiff; Richard J Antaya; Keith A Choate
Journal:  Am J Hum Genet       Date:  2016-05-05       Impact factor: 11.025

7.  Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Authors:  Shih-hsin Kan; Navaratnam Elanko; David Johnson; Laura Cornejo-Roldan; Jackie Cook; Elsa W Reich; Susan Tomkins; Alain Verloes; Stephen R F Twigg; Sahan Rannan-Eliya; Donna M McDonald-McGinn; Elaine H Zackai; Steven A Wall; Maximilian Muenke; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2002-01-04       Impact factor: 11.025

8.  [Uncommon acne-associated syndromes and their significance in understanding the pathogenesis of acne].

Authors:  J-B Hong; H Prucha; B Melnik; M Ziai; J Ring; W Chen
Journal:  Hautarzt       Date:  2013-04       Impact factor: 0.751

9.  Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Authors:  Anne Goriely; Helen Lord; Jasmine Lim; David Johnson; Tracy Lester; Helen V Firth; Andrew O M Wilkie
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

10.  Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.

Authors:  Omar A Ibrahimi; Fuming Zhang; Anna V Eliseenkova; Nobuyuki Itoh; Robert J Linhardt; Moosa Mohammadi
Journal:  Hum Mol Genet       Date:  2004-07-28       Impact factor: 6.150
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