Literature DB >> 9138147

Menkes disease: recent advances and new aspects.

Z Tümer1, N Horn.   

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Year:  1997        PMID: 9138147      PMCID: PMC1050910          DOI: 10.1136/jmg.34.4.265

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


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  81 in total

1.  Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome.

Authors:  H M Yang; T Lund; E Niebuhr; S Nørby; M Schwartz; L Shen
Journal:  Clin Genet       Date:  1990-08       Impact factor: 4.438

2.  Menkes' Kinky hair syndrome: studies of copper metabolism and long term copper therapy.

Authors:  D M Williams; C L Atkin; D B Frens; P F Bray
Journal:  Pediatr Res       Date:  1977-07       Impact factor: 3.756

3.  Wilson disease in Iceland: a clinical and genetic study.

Authors:  G R Thomas; O Jensson; G Gudmundsson; L Thorsteinsson; D W Cox
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

4.  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

5.  An autopsy case of Menkes kinky hair disease.

Authors:  O Matsubara; H Takaoka; M Nasu; Y Iwakawa; R Okeda
Journal:  Acta Pathol Jpn       Date:  1978-07

Review 6.  X-linked genetic homologies between mouse and man.

Authors:  M T Davisson
Journal:  Genomics       Date:  1987-11       Impact factor: 5.736

Review 7.  Human Menkes X-chromosome disease and the staphylococcal cadmium-resistance ATPase: a remarkable similarity in protein sequences.

Authors:  S Silver; G Nucifora; L T Phung
Journal:  Mol Microbiol       Date:  1993-10       Impact factor: 3.501

8.  Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.

Authors:  P Wieacker; N Horn; P Pearson; T F Wienker; E McKay; H H Ropers
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  Eight closely linked loci place the Wilson disease locus within 13q14-q21.

Authors:  A M Bowcock; L A Farrer; J M Hebert; M Agger; I Sternlieb; I H Scheinberg; C H Buys; H Scheffer; M Frydman; T Chajek-Saul
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

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

Authors:  N Horn; P Mooy; V M McGuire
Journal:  J Med Genet       Date:  1980-08       Impact factor: 6.318

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  13 in total

1.  A child with kinky hair.

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

Review 2.  Peptidylgycine α-amidating monooxygenase and copper: a gene-nutrient interaction critical to nervous system function.

Authors:  Danielle Bousquet-Moore; Richard E Mains; Betty A Eipper
Journal:  J Neurosci Res       Date:  2010-09       Impact factor: 4.164

Review 3.  Menkes disease.

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

4.  Pamidronate treatment improves bone mineral density in children with Menkes disease.

Authors:  S Kanumakala; A Boneh; M Zacharin
Journal:  J Inherit Metab Dis       Date:  2002-09       Impact factor: 4.982

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

7.  Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases.

Authors:  Shaomin Yan; Guang Wu
Journal:  Mol Divers       Date:  2008-08-08       Impact factor: 2.943

8.  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

9.  Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction.

Authors:  Danielle Bousquet-Moore; Joseph R Prohaska; Eduardo A Nillni; Traci Czyzyk; William C Wetsel; Richard E Mains; Betty A Eipper
Journal:  Neurobiol Dis       Date:  2009-10-06       Impact factor: 5.996

10.  Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease.

Authors:  Marimar Sáez-de-Ocariz; Ana Sylvia Aguilar-Sarmiento; Maria Adelaida Garcés-Abad; Paulina Vázquez-Arroyo; Maria Teresa García-Romero; Carola Durán-McKinster
Journal:  Skin Appendage Disord       Date:  2021-09-02
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