Literature DB >> 2289318

Clinical expression of Menkes syndrome in females.

A M Gerdes1, T Tønnesen, N Horn, T Grisar, W Marg, A Müller, R Reinsch, N W Barton, P Guiraud, A Joannard.   

Abstract

Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased 64Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients and abnormal for one patient (45X/46XX mosaicism).

Entities:  

Mesh：

Year:  1990        PMID： 2289318     DOI： 10.1111/j.1399-0004.1990.tb03612.x

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


  11 in total

1.  Multipoint linkage analysis in Menkes disease.

Authors:  T Tønnesen; A Petterson; T A Kruse; A M Gerdes; N Horn
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

Review 2.  Menkes disease: recent advances and new aspects.

Authors:  Z Tümer; N Horn
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

3.  A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.

Authors:  N Tommerup; Z Tümer; T Tønnesen; N Horn
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

4.  Ophthalmological findings in a girl with Menkes-like disease.

Authors:  K Tuppurainen; E Airaksinen; M Mäntyjärvi
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1994-07       Impact factor: 3.117

5.  The copper transporter CTR1 provides an essential function in mammalian embryonic development.

Authors:  Y M Kuo; B Zhou; D Cosco; J Gitschier
Journal:  Proc Natl Acad Sci U S A       Date:  2001-06-05       Impact factor: 11.205

6.  Occipital horn syndrome in a woman: skeletal radiological findings.

Authors:  Alberto Bazzocchi; Rayka Femia; Paola Feraco; Giuseppe Battista; Romeo Canini; Giuseppe Guglielmi
Journal:  Skeletal Radiol       Date:  2011-05-08       Impact factor: 2.199

Review 7.  Menkes disease: underlying genetic defect and new diagnostic possibilities.

Authors:  Z Tümer; N Horn
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

8.  Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.

Authors:  Ja Hye Kim; Beom Hee Lee; Yoo-Mi Kim; Jin-Ho Choi; Gu-Hwan Kim; Chong Kun Cheon; Han-Wook Yoo
Journal:  Metab Brain Dis       Date:  2014-06-13       Impact factor: 3.584

9.  Clinical expression of Menkes disease in females with normal karyotype.

Authors:  Lisbeth Birk Møller; Malgorzata Lenartowicz; Marie-Therese Zabot; Arnaud Josiane; Lydie Burglen; Chris Bennett; Daniel Riconda; Richard Fisher; Sandra Janssens; Shehla Mohammed; Margreet Ausems; Zeynep Tümer; Nina Horn; Thomas G Jensen
Journal:  Orphanet J Rare Dis       Date:  2012-01-22       Impact factor: 4.123

Review 10.  Menkes disease in affected females: the clinical disease spectrum.

Authors:  Patroula Smpokou; Monisha Samanta; Gerard T Berry; Leah Hecht; Elizabeth C Engle; Uta Lichter-Konecki
Journal:  Am J Med Genet A       Date:  2014-11-26       Impact factor: 2.802
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.