Literature DB >> 7783172

Menkes disease.

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Year:  1995        PMID： 7783172      PMCID： PMC1050320          DOI： 10.1136/jmg.32.3.213

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


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  15 in total

1.  A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.

Authors:  J H MENKES; M ALTER; G K STEIGLEDER; D R WEAKLEY; J H SUNG
Journal:  Pediatrics       Date:  1962-05       Impact factor: 7.124

2.  The mild form of Menkes disease: progress report on the original case.

Authors:  D M Danks
Journal:  Am J Med Genet       Date:  1988-07

3.  Menkes syndrome in a girl with X-autosome translocation.

Authors:  S Kapur; J V Higgins; K Delp; B Rogers
Journal:  Am J Med Genet       Date:  1987-02

4.  Primary defect in copper transport underlies mottled mutants in the mouse.

Authors:  D M Hunt
Journal:  Nature       Date:  1974-06-28       Impact factor: 49.962

5.  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

Review 6.  Kinky hair disease: twenty five years later.

Authors:  J H Menkes
Journal:  Brain Dev       Date:  1988       Impact factor: 1.961

7.  Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.

Authors:  J Chelly; Z Tümer; T Tønnesen; A Petterson; Y Ishikawa-Brush; N Tommerup; N Horn; A P Monaco
Journal:  Nat Genet       Date:  1993-01       Impact factor: 38.330

8.  Isolation of a partial candidate gene for Menkes disease by positional cloning.

Authors:  J F Mercer; J Livingston; B Hall; J A Paynter; C Begy; S Chandrasekharappa; P Lockhart; A Grimes; M Bhave; D Siemieniak
Journal:  Nat Genet       Date:  1993-01       Impact factor: 38.330

9.  Atypical Menkes steely hair disease.

Authors:  J A Westman; D C Richardson; O M Rennert; G Morrow
Journal:  Am J Med Genet       Date:  1988-07

10.  Incidence of Menkes disease.

Authors:  T Tønnesen; W J Kleijer; N Horn
Journal:  Hum Genet       Date:  1991-02       Impact factor: 4.132
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  5 in total

1.  A child with kinky hair.

Authors:  Erik N Swartz
Journal:  CMAJ       Date:  2002-05-28       Impact factor: 8.262

2.  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

Review 3.  Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.

Authors:  Stephanie Zlatic; Heather Skye Comstra; Avanti Gokhale; Michael J Petris; Victor Faundez
Journal:  Neurobiol Dis       Date:  2015-01-10       Impact factor: 5.996

4.  Fibroblast silver loading for the diagnosis of Menkes disease.

Authors:  F W Verheijen; C E Beerens; A C Havelaar; W J Kleijer; G M Mancini
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

5.  Madarosis: a marker of many maladies.

Authors:  Annapurna Kumar; Kaliaperumal Karthikeyan
Journal:  Int J Trichology       Date:  2012-01
  5 in total

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