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Items: 1 to 20 of 125

1.

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.

2.

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.

3.

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
4.

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
5.
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.

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.

PMID:
11350187
8.

The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.

Cecchi C, Biasotto M, Tosi M, Avner P.

Hum Mol Genet. 1997 Mar;6(3):425-33. Erratum in: Hum Mol Genet. 1997 May;6(5):829.

PMID:
9147646
9.

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K.

Am J Hum Genet. 1997 Aug;61(2):317-28.

10.

Intragenic deletions at Atp7a in mouse models for Menkes disease.

Cunliffe P, Reed V, Boyd Y.

Genomics. 2001 Jun 1;74(2):155-62.

PMID:
11386751
11.

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
12.

Haplotype and mutation analysis in Japanese patients with Wilson disease.

Nanji MS, Nguyen VT, Kawasoe JH, Inui K, Endo F, Nakajima T, Anezaki T, Cox DW.

Am J Hum Genet. 1997 Jun;60(6):1423-9.

13.
14.

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.

PMID:
11043517
15.
16.

Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model.

Ohta Y, Shiraishi N, Nishikimi M.

Biochem Mol Biol Int. 1997 Nov;43(4):913-8.

PMID:
9385451
17.

X-linked recessive Menkes disease: identification of partial gene deletions in affected males.

Poulsen L, Horn N, Heilstrup H, Lund C, Tümer Z, Møller LB.

Clin Genet. 2002 Dec;62(6):449-57.

PMID:
12485192
19.

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

Paulsen M, Lund C, Akram Z, Winther JR, Horn N, Møller LB.

Am J Hum Genet. 2006 Aug;79(2):214-29. Epub 2006 Jun 5.

20.

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

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