Literature DB >> 7205901

Menkes X linked disease: two clonal cell populations in heterozygotes.

N Horn, P Mooy, V M McGuire.   

Abstract

The 64Cu incorporation into fibroblast clones obtained from three obligate and three suspected Menkes disease heterozygotes was studied. For each obligate heterozygote, two clonal cell populations were observed, one with a Menkes phenotype and one with a normal phenotype, as predicted by the Lyon hypothesis. The cloning results suggested a heterozygous state in two of the suspected carriers. The theoretical and practical limitation of the cloning method for identification of carriers of X linked diseases are discussed.

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Year:  1980        PMID： 7205901      PMCID： PMC1048566          DOI： 10.1136/jmg.17.4.262

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  15 in total

1.  Menkes' kinky hair disease: further definition of the defect in copper transport.

Authors:  D M Danks; E Cartwright; B J Stevens; R R Townley
Journal:  Science       Date:  1973-03-16       Impact factor: 47.728

2.  Detection of proximal-vein thrombosis by Doppler ultrasound flow-detection method.

Authors:  S T Yao; C Gourmos; J T Hobbs
Journal:  Lancet       Date:  1972-01-01       Impact factor: 79.321

3.  Menkes kinky hair syndrome in a black infant.

Authors:  E J Volpintesta
Journal:  Am J Dis Child       Date:  1974-08

4.  Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects.

Authors:  D M Danks; P E Campbell; B J Stevens; V Mayne; E Cartwright
Journal:  Pediatrics       Date:  1972-08       Impact factor: 7.124

5.  [Prenatal diagnosis of Menkes' disease].

Authors:  N Horn
Journal:  Ugeskr Laeger       Date:  1979-11-19

6.  Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use.

Authors:  E B Hook
Journal:  Am J Hum Genet       Date:  1977-01       Impact factor: 11.025

7.  Is Menkes syndrome a copper storage disorder?

Authors:  N Horn; K Heydorn; E Damsgaard; I Tygstrup; S Vestermark
Journal:  Clin Genet       Date:  1978-09       Impact factor: 4.438

8.  Pili torti as marker for carriers of Menkes disease.

Authors:  W R Collie; C M Moore; T J Goka; R R Howell
Journal:  Lancet       Date:  1978-03-18       Impact factor: 79.321

9.  Copper metabolism in Menkes disease.

Authors:  T J Goka; R R Howell
Journal:  Monogr Hum Genet       Date:  1978

10.  Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease.

Authors:  K Keydorn; E Damsgaard; N Horn; M Mikkelsen; I Tygstrup; S Vestemark; J Weber
Journal:  Humangenetik       Date:  1975-09-10
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  9 in total

1.  Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease.

Authors:  W Masson; H Hughes; D Papworth; Y Boyd; N Horn
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.

Authors:  V Verga; B K Hall; S R Wang; S Johnson; J V Higgins; T W Glover
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

3.  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

Review 4.  Menkes disease: recent advances and new aspects.

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

Review 5.  Prenatal diagnosis of inherited metabolic diseases.

Authors:  R Diukman; J D Goldberg
Journal:  West J Med       Date:  1993-09

6.  Menkes' X-linked disease: prenatal diagnosis and carrier detection.

Authors:  N Horn
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

Review 7.  Mutations in humans and animals which affect copper metabolism.

Authors:  J Camakaris; M Phillips; D M Danks; R Brown; T Stevenson
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

8.  Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures.

Authors:  N Horn
Journal:  J Med Genet       Date:  1980-08       Impact factor: 6.318

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
  9 in total

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