Literature DB >> 7807930

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis.

Z Tümer1, T Tønnesen, N Horn.   

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Year:  1994        PMID： 7807930     DOI： 10.1007/bf00711804

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

1.  Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism.

Authors:  T Tønnesen; N Horn
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

2.  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

3.  Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.

Authors:  C Vulpe; B Levinson; S Whitney; S Packman; J Gitschier
Journal:  Nat Genet       Date:  1993-01       Impact factor: 38.330

4.  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

5.  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

Review 6.  Menkes disease: an X-linked neurological disorder of the copper metabolism.

Authors:  N Horn; T Tønnesen; Z Tümer
Journal:  Brain Pathol       Date:  1992-10       Impact factor: 6.508
  6 in total
  6 in total

1.  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 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.  Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.

Authors:  L B Møller; Z Tümer; C Lund; C Petersen; T Cole; R Hanusch; J Seidel; L R Jensen; N Horn
Journal:  Am J Hum Genet       Date:  2000-03-17       Impact factor: 11.025

4.  Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

Authors:  Marianne Paulsen; Connie Lund; Zarqa Akram; Jakob R Winther; Nina Horn; Lisbeth Birk Møller
Journal:  Am J Hum Genet       Date:  2006-06-05       Impact factor: 11.025

Review 5.  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

6.  A comparison of the mutation spectra of Menkes disease and Wilson disease.

Authors:  Gloria Hsi; Diane W Cox
Journal:  Hum Genet       Date:  2003-10-25       Impact factor: 4.132
  6 in total

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