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43. Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease. Murata Y; Kodama H; Mori Y; Kobayashi M; Abe T J Inherit Metab Dis; 1998 Jun; 21(3):199-202. PubMed ID: 9686356 [No Abstract] [Full Text] [Related]
44. Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population. Ogawa A; Yamamoto S; Kanazawa M; Ogawa E; Takayanagi M; Hasegawa S; Kohno Y J Hum Genet; 2000; 45(5):315-7. PubMed ID: 11043517 [TBL] [Abstract][Full Text] [Related]
45. Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment. Kaler SG J Trace Elem Med Biol; 2014 Oct; 28(4):427-30. PubMed ID: 25281031 [TBL] [Abstract][Full Text] [Related]
46. Clinical expression of Menkes disease in a girl with X;13 translocation. Abusaad I; Mohammed SN; Ogilvie CM; Ritchie J; Pohl KR; Docherty Z Am J Med Genet; 1999 Dec; 87(4):354-9. PubMed ID: 10588844 [TBL] [Abstract][Full Text] [Related]
47. Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. Hahn S; Cho K; Ryu K; Kim J; Pai K; Kim M; Park H; Yoo O Mol Genet Metab; 2001 May; 73(1):86-90. PubMed ID: 11350187 [TBL] [Abstract][Full Text] [Related]
48. Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization. Goodyer ID; Jones EE; Monaco AP; Francis MJ Hum Mol Genet; 1999 Aug; 8(8):1473-8. PubMed ID: 10400994 [TBL] [Abstract][Full Text] [Related]
49. Menkes' Kinky Hair disease: new considerations. Kabra M; Gangakhedkar AK; Pasi GR; Manoj R; Verma IC Indian Pediatr; 1996 Nov; 33(11):956-60. PubMed ID: 9141833 [No Abstract] [Full Text] [Related]
54. Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis. László A; Endreffy E; Tümer Z; Horn N; Szabó J Ideggyogy Sz; 2010 Jan; 63(1-2):48-51. PubMed ID: 20420124 [TBL] [Abstract][Full Text] [Related]
55. Multiple forms of the Menkes Cu-ATPase. Harris ED; Reddy MC; Qian Y; Tiffany-Castiglioni E; Majumdar S; Nelson J Adv Exp Med Biol; 1999; 448():39-51. PubMed ID: 10079814 [TBL] [Abstract][Full Text] [Related]
56. Neonatal erythroderma as a first manifestation of Menkes disease. Galve J; Vicente A; González-Enseñat MA; Pérez-Dueñas B; Cusí V; Møller LB; Julià M; Domínguez A; Ferrando J Pediatrics; 2012 Jul; 130(1):e239-42. PubMed ID: 22711717 [TBL] [Abstract][Full Text] [Related]
57. Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease. Reed V; Boyd Y Hum Mol Genet; 1997 Mar; 6(3):417-23. PubMed ID: 9147645 [TBL] [Abstract][Full Text] [Related]
58. Genomic organization of the mottled gene, the mouse homologue of the human Menkes disease gene. Cecchi C; Avner P Genomics; 1996 Oct; 37(1):96-104. PubMed ID: 8921375 [TBL] [Abstract][Full Text] [Related]
59. A Golgi localization signal identified in the Menkes recombinant protein. Francis MJ; Jones EE; Levy ER; Ponnambalam S; Chelly J; Monaco AP Hum Mol Genet; 1998 Aug; 7(8):1245-52. PubMed ID: 9668166 [TBL] [Abstract][Full Text] [Related]
60. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Tümer Z; Birk Møller L; Horn N Hum Mutat; 2003 Dec; 22(6):457-64. PubMed ID: 14635105 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]