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3. 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]
4. Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA. Reddy MC; Harris ED Biochem J; 1998 Aug; 334 ( Pt 1)(Pt 1):71-7. PubMed ID: 9693104 [TBL] [Abstract][Full Text] [Related]
6. Copper transport and its alterations in Menkes and Wilson diseases. DiDonato M; Sarkar B Biochim Biophys Acta; 1997 Feb; 1360(1):3-16. PubMed ID: 9061035 [No Abstract] [Full Text] [Related]
7. [Menkes' disease and brain dysfunction]. Aoki T; Yamaguchi Y; Omura I; Watanabe A; Shimizu N No To Shinkei; 2001 May; 53(5):427-35. PubMed ID: 11424353 [No Abstract] [Full Text] [Related]
8. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Vulpe C; Levinson B; Whitney S; Packman S; Gitschier J Nat Genet; 1993 Jan; 3(1):7-13. PubMed ID: 8490659 [TBL] [Abstract][Full Text] [Related]
9. Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome. Qi M; Byers PH Hum Mol Genet; 1998 Mar; 7(3):465-9. PubMed ID: 9467005 [TBL] [Abstract][Full Text] [Related]
10. Menkes disease: recent advances and new aspects. Tümer Z; Horn N J Med Genet; 1997 Apr; 34(4):265-74. PubMed ID: 9138147 [No Abstract] [Full Text] [Related]
11. 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]
12. Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion. Kaler SG; Das S; Levinson B; Goldstein DS; Holmes CS; Patronas NJ; Packman S; Gahl WA Biochem Mol Med; 1996 Feb; 57(1):37-46. PubMed ID: 8812725 [TBL] [Abstract][Full Text] [Related]
13. Identification of point mutations in 41 unrelated patients affected with Menkes disease. Tümer Z; Lund C; Tolshave J; Vural B; Tønnesen T; Horn N Am J Hum Genet; 1997 Jan; 60(1):63-71. PubMed ID: 8981948 [TBL] [Abstract][Full Text] [Related]
14. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Kaler SG; Gallo LK; Proud VK; Percy AK; Mark Y; Segal NA; Goldstein DS; Holmes CS; Gahl WA Nat Genet; 1994 Oct; 8(2):195-202. PubMed ID: 7842019 [TBL] [Abstract][Full Text] [Related]
15. Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. Seidel J; Møller LB; Mentzel HJ; Kauf E; Vogt S; Patzer S; Wollina U; Zintl F; Horn N Cell Mol Biol (Noisy-le-grand); 2001; 47 Online Pub():OL141-8. PubMed ID: 11936860 [TBL] [Abstract][Full Text] [Related]
16. Menkes disease mutations and response to early copper histidine treatment. Kaler SG Nat Genet; 1996 May; 13(1):21-2. PubMed ID: 8673098 [No Abstract] [Full Text] [Related]
18. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Møller LB; Tümer Z; Lund C; Petersen C; Cole T; Hanusch R; Seidel J; Jensen LR; Horn N Am J Hum Genet; 2000 Apr; 66(4):1211-20. PubMed ID: 10739752 [TBL] [Abstract][Full Text] [Related]
19. Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse. Levinson B; Packman S; Gitschier J Nat Genet; 1997 Jul; 16(3):224-5. PubMed ID: 9207785 [No Abstract] [Full Text] [Related]
20. Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Ambrosini L; Mercer JF Hum Mol Genet; 1999 Aug; 8(8):1547-55. PubMed ID: 10401004 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]