Literature DB >> 10517259

Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement.

C Picard, S Couderc, T Skojaei, R Salomon, P de Lonlay, M Le Merrer, A Munnich, S Lyonnet, J Amiel.   

Abstract

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Year:  1999        PMID： 10517259     DOI： 10.1034/j.1399-0004.1999.560216.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Mutations in KCTD1 cause scalp-ear-nipple syndrome.

Authors:  Alexander G Marneros; Anita E Beck; Emily H Turner; Margaret J McMillin; Matthew J Edwards; Michael Field; Nara Lygia de Macena Sobreira; Ana Beatriz A Perez; Jose A R Fortes; Anne K Lampe; Maria Luisa Giovannucci Uzielli; Christopher T Gordon; Ghislaine Plessis; Martine Le Merrer; Jeanne Amiel; Ernst Reichenberger; Kathryn M Shively; Felecia Cerrato; Brian I Labow; Holly K Tabor; Joshua D Smith; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2013-03-28       Impact factor: 11.025

2.  PTPRF is disrupted in a patient with syndromic amastia.

Authors:  Surasawadee Ausavarat; Siraprapa Tongkobpetch; Verayuth Praphanphoj; Charan Mahatumarat; Nond Rojvachiranonda; Thiti Snabboon; Thomas C Markello; William A Gahl; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Journal:  BMC Med Genet       Date:  2011-03-31       Impact factor: 2.103

3.  Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice.

Authors:  Sudhir Kumar; Birgit Rathkolb; Sibylle Sabrautzki; Stefan Krebs; Elisabeth Kemter; Lore Becker; Johannes Beckers; Raffi Bekeredjian; Robert Brommage; Julia Calzada-Wack; Lillian Garrett; Sabine M Hölter; Marion Horsch; Martin Klingenspor; Thomas Klopstock; Kristin Moreth; Frauke Neff; Jan Rozman; Helmut Fuchs; Valérie Gailus-Durner; Martin Hrabe de Angelis; Eckhard Wolf; Bernhard Aigner
Journal:  J Biomed Sci       Date:  2017-08-17       Impact factor: 8.410
  3 in total

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