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Items: 1 to 20 of 118

1.

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.

PMID:
7842019
2.

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

Dagenais SL, Adam AN, Innis JW, Glover TW.

Am J Hum Genet. 2001 Aug;69(2):420-7. Epub 2001 Jun 26.

3.
4.

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.

Gu YH, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.

Am J Med Genet. 2001 Mar 15;99(3):217-22.

PMID:
11241493
5.

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. Epub 2000 Mar 17.

6.

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.

PMID:
11936860
7.

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.

Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB.

Eur J Hum Genet. 2014 Apr;22(4):517-21. doi: 10.1038/ejhg.2013.191. Epub 2013 Sep 4.

8.

Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease.

Ogawa A, Yamamoto S, Takayanagi M, Kogo T, Kanazawa M, Kohno Y.

J Hum Genet. 1999;44(3):206-9.

PMID:
10319589
9.

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.

PMID:
8812725
10.

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S.

Am J Hum Genet. 1995 Mar;56(3):570-6.

11.
12.

Menkes syndrome and animal models.

Mercer JF.

Am J Clin Nutr. 1998 May;67(5 Suppl):1022S-1028S. Review.

PMID:
9587146
13.
14.

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.

16.
17.

Twenty-five novel mutations including duplications in the ATP7A gene.

Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.

Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x.

PMID:
21208200
18.

Characterization of the exon structure of the Menkes disease gene using vectorette PCR.

Tümer Z, Vural B, Tønnesen T, Chelly J, Monaco AP, Horn N.

Genomics. 1995 Apr 10;26(3):437-42.

PMID:
7607665
19.

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.

Mercer JF, Grimes A, Ambrosini L, Lockhart P, Paynter JA, Dierick H, Glover TW.

Nat Genet. 1994 Apr;6(4):374-8.

PMID:
8054977
20.

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. Review.

PMID:
10079814

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