Literature DB >> 21487442

Clinical utility gene card for: Menkes disease.

Zeynep Tümer1, Leo Klomp.   

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Year:  2011        PMID： 21487442      PMCID： PMC3190265          DOI： 10.1038/ejhg.2011.56

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  12 in total

1.  Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.

Authors:  Lisbeth Birk Møller; Jens Thostrup Bukrinsky; Anne Mølgaard; Marianne Paulsen; Connie Lund; Zeynep Tümer; Sine Larsen; Nina Horn
Journal:  Hum Mutat       Date:  2005-08       Impact factor: 4.878

Review 2.  Menkes disease.

Authors:  Zeynep Tümer; Lisbeth B Møller
Journal:  Eur J Hum Genet       Date:  2009-11-04       Impact factor: 4.246

3.  Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

Authors:  Marina L Kennerson; Garth A Nicholson; Stephen G Kaler; Bartosz Kowalski; Julian F B Mercer; Jingrong Tang; Roxana M Llanos; Shannon Chu; Reinaldo I Takata; Carlos E Speck-Martins; Jonathan Baets; Leonardo Almeida-Souza; Dirk Fischer; Vincent Timmerman; Philip E Taylor; Steven S Scherer; Toby A Ferguson; Thomas D Bird; Peter De Jonghe; Shawna M E Feely; Michael E Shy; James Y Garbern
Journal:  Am J Hum Genet       Date:  2010-02-18       Impact factor: 11.025

4.  Identification of point mutations in 41 unrelated patients affected with Menkes disease.

Authors:  Z Tümer; C Lund; J Tolshave; B Vural; T Tønnesen; N Horn
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

5.  X-linked Menkes disease: first documented report of germ-line mosaicism.

Authors:  Lena Poulsen; Lisbeth Birk Møller; Katie Plunkett; John Belmont; Zeynep Tümer; Nina Horn
Journal:  Genet Test       Date:  2004

6.  ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.

Authors:  Y H Gu; H Kodama; Y Murata; D Mochizuki; Y Yanagawa; H Ushijima; T Shiba; C C Lee
Journal:  Am J Med Genet       Date:  2001-03-15

7.  Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.

Authors:  J Christodoulou; D M Danks; B Sarkar; K E Baerlocher; R Casey; N Horn; Z Tümer; J T Clarke
Journal:  Am J Med Genet       Date:  1998-03-05

Review 8.  Mutation spectrum of ATP7A, the gene defective in Menkes disease.

Authors:  Z Tümer; L B Møller; N Horn
Journal:  Adv Exp Med Biol       Date:  1999       Impact factor: 2.622

9.  Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

Authors:  Pietro Sirleto; Cecilia Surace; Helena Santos; Enrico Bertini; Anna C Tomaiuolo; Antonietta Lombardo; Sara Boenzi; Elsa Bevivino; Carlo Dionisi-Vici; Adriano Angioni
Journal:  Pediatr Res       Date:  2009-03       Impact factor: 3.756

10.  Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2.

Authors:  Z Tümer; N Tommerup; T Tønnesen; J Kreuder; I W Craig; N Horn
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132
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