-
1
-
-
0032838080
-
Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease
-
Ambrosini L, Mercer JF (1999) Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Hum Mol Genet 8:1547-1555
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1547-1555
-
-
Ambrosini, L.1
Mercer, J.F.2
-
2
-
-
0028080313
-
X;1 translocation in a female Menkes patients: Characterization by fluorescence in situ hybridization
-
Beck J, Enders H, Schliephacke M, Buchwald-Saal M, Tümer Z (1994) X;1 translocation in a female Menkes patients: Characterization by fluorescence in situ hybridization. Clin Genet 46: 295-298
-
(1994)
Clin Genet
, vol.46
, pp. 295-298
-
-
Beck, J.1
Enders, H.2
Schliephacke, M.3
Buchwald-Saal, M.4
Tümer, Z.5
-
3
-
-
0035395798
-
Structure-function analysis of purified Enterococcus hirae CopB copper ATPase: Effect of Menkes/Wilson disease mutation homologues
-
Bissig KD, Wunderli-Ye H, Duda PW, Solioz M (2001) Structure-function analysis of purified Enterococcus hirae CopB copper ATPase: Effect of Menkes/Wilson disease mutation homologues. Biochem J 357:217-223
-
(2001)
Biochem J
, vol.357
, pp. 217-223
-
-
Bissig, K.D.1
Wunderli-Ye, H.2
Duda, P.W.3
Solioz, M.4
-
4
-
-
0028242939
-
Wilson disease and Menkes disease: New handles on heavy-metal transport
-
Bull PC, Cox DW (1994) Wilson disease and Menkes disease: New handles on heavy-metal transport. Trends Genet 10:246-252
-
(1994)
Trends Genet
, vol.10
, pp. 246-252
-
-
Bull, P.C.1
Cox, D.W.2
-
5
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5:327-337
-
(1993)
Nat Genet
, vol.5
, pp. 327-337
-
-
Bull, P.C.1
Thomas, G.R.2
Rommens, J.M.3
Forbes, J.R.4
Cox, D.W.5
-
6
-
-
0018897589
-
X-linked cutis laxa: Defective cross-link formation in collagen due to decreased lysyl oxidase activity
-
Byers PH, Siegel RC, Holbrook KA, Narayanan AS, Bornstein P, Hall JG (1980) X-linked cutis laxa: Defective cross-link formation in collagen due to decreased lysyl oxidase activity. N Engl J Med 303:61-65
-
(1980)
N Engl J Med
, vol.303
, pp. 61-65
-
-
Byers, P.H.1
Siegel, R.C.2
Holbrook, K.A.3
Narayanan, A.S.4
Bornstein, P.5
Hall, J.G.6
-
8
-
-
0027500142
-
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
-
Chelly J, Tümer Z, Tönnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N, Monaco AP (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 3:14-19
-
(1993)
Nat Genet
, vol.3
, pp. 14-19
-
-
Chelly, J.1
Tümer, Z.2
Tönnesen, T.3
Petterson, A.4
Ishikawa-Brush, Y.5
Tommerup, N.6
Horn, N.7
Monaco, A.P.8
-
9
-
-
0348101414
-
Wilson disease
-
In: Fieldman M, Friedman LS, Sleisenger MH (eds); Saunders, Philadelphia
-
Cox, Roberts EA (2002) Wilson disease. In: Fieldman M, Friedman LS, Sleisenger MH (eds) Sleisenger and Forstran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management, 7th edn. Saunders, Philadelphia, pp 1269-1277
-
(2002)
Sleisenger and Forstran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management, 7th edn
, pp. 1269-1277
-
-
Cox, R.E.A.1
-
10
-
-
0034926276
-
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 (2001) A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. Am J Hum Genet 69:420-427
-
(2001)
Am J Hum Genet
, vol.69
, pp. 420-427
-
-
Dagenais, S.L.1
Adam, A.N.2
Innis, J.W.3
Glover, T.W.4
-
11
-
-
0000386450
-
Disorders of copper transport
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds); McGraw-Hill, New York
-
Danks (1995) Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease, 7th edn. McGraw-Hill, New York, pp 2211-2235
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease, 7th edn
, pp. 2211-2235
-
-
Danks1
-
12
-
-
0027939458
-
Diverse mutations in patients with Menkes disease often lead to exon skipping
-
Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J (1994) Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet 55:883-889
-
(1994)
Am J Hum Genet
, vol.55
, pp. 883-889
-
-
Das, S.1
Levinson, B.2
Whitney, S.3
Vulpe, C.4
Packman, S.5
Gitschier, J.6
-
13
-
-
0028957864
-
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 (1995) Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet 56:570-576
-
(1995)
Am J Hum Genet
, vol.56
, pp. 570-576
-
-
Das, S.1
Levinson, B.2
Vulpe, C.3
Whitney, S.4
Gitschier, J.5
Packman, S.6
-
14
-
-
0031050483
-
Copper transport and its alterations in Menkes and Wilson diseases
-
DiDonato M, Sarkar B (1997) Copper transport and its alterations in Menkes and Wilson diseases. Biochim Biophys Acta 1360: 3-16
-
(1997)
Biochim Biophys Acta
, vol.1360
, pp. 3-16
-
-
DiDonato, M.1
Sarkar, B.2
-
15
-
-
0036820685
-
Structural and functional insights of Wilson disease copper-transporting ATPase
-
Fatemi N, Sarkar B (2002) Structural and functional insights of Wilson disease copper-transporting ATPase. J Bioenerg Biomembr 34:339-349
-
(2002)
J Bioenerg Biomembr
, vol.34
, pp. 339-349
-
-
Fatemi, N.1
Sarkar, B.2
-
16
-
-
0032471911
-
Functional characterization of misense mutations in ATP7B: Wilson disease mutation or normal variant?
-
Forbes JR, Cox DW (1998) Functional characterization of misense mutations in ATP7B: Wilson disease mutation or normal variant? Am J Hum Genet 63:1663-1674
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1663-1674
-
-
Forbes, J.R.1
Cox, D.W.2
-
17
-
-
0034641603
-
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins
-
Forbes JR, Cox DW (2000) Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet 9:1927-1935
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1927-1935
-
-
Forbes, J.R.1
Cox, D.W.2
-
18
-
-
0033617198
-
Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease
-
Forbes JR, Hsi G, Cox DW (1999) Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease. J Biol Chem 274:12408-12413
-
(1999)
J Biol Chem
, vol.274
, pp. 12408-12413
-
-
Forbes, J.R.1
Hsi, G.2
Cox, D.W.3
-
19
-
-
0035869131
-
ATP7A gene mutations in 16 patients with Menkes disease and a patients with occipital horn syndrome
-
Gu YH, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC (2001) ATP7A gene mutations in 16 patients with Menkes disease and a patients with occipital horn syndrome. Am J Med Genet 99:217-222
-
(2001)
Am J Med Genet
, vol.99
, pp. 217-222
-
-
Gu, Y.H.1
Kodama, H.2
Murata, Y.3
Mochizuki, D.4
Yanagawa, Y.5
Ushijima, H.6
Shiba, T.7
Lee, C.C.8
-
20
-
-
0035718849
-
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 (2001) Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. Mol Genet Metab 73:86-90
-
(2001)
Mol Genet Metab
, vol.73
, pp. 86-90
-
-
Hahn, S.1
Cho, K.2
Ryu, K.3
Kim, J.4
Pai, K.5
Kim, M.6
Park, H.7
Yoo, O.8
-
21
-
-
0031598230
-
Metabolic and molecular bases of Menkes disease and occipital horn syndrome
-
Kaler SG (1998) Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol 1:85-98
-
(1998)
Pediatr Dev Pathol
, vol.1
, pp. 85-98
-
-
Kaler, S.G.1
-
22
-
-
0028017998
-
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 (1994) Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet 8:195-202
-
(1994)
Nat Genet
, vol.8
, pp. 195-202
-
-
Kaler, S.G.1
Gallo, L.K.2
Proud, V.K.3
Percy, A.K.4
Mark, Y.5
Segal, N.A.6
Goldstein, D.S.7
Holmes, C.S.8
Gahl, W.A.9
-
23
-
-
0029616291
-
Early copper therapy in classic Menkes disease patients with a novel splicing mutation
-
Kaler SG, Buist NR, Holmes CS, Goldstein DS, Miller RC, Gahl WA (1995) Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Ann Neurol 38:921-928
-
(1995)
Ann Neurol
, vol.38
, pp. 921-928
-
-
Kaler, S.G.1
Buist, N.R.2
Holmes, C.S.3
Goldstein, D.S.4
Miller, R.C.5
Gahl, W.A.6
-
25
-
-
0031829339
-
Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1)
-
La Fontaine S, Firth SD, Lockhart PJ, Brooks H, Parton RG, Camakaris J, Mercer JF (1998) Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1). Hum Mol Genet 7:1293-1300
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1293-1300
-
-
La Fontaine, S.1
Firth, S.D.2
Lockhart, P.J.3
Brooks, H.4
Parton, R.G.5
Camakaris, J.6
Mercer, J.F.7
-
26
-
-
0029836981
-
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome
-
Levinson B, Conant R, Schnur R, Das S, Packman S, Gitschier J (1996) A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum Mol Genet 5:1737-1742
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1737-1742
-
-
Levinson, B.1
Conant, R.2
Schnur, R.3
Das, S.4
Packman, S.5
Gitschier, J.6
-
27
-
-
0029883795
-
Copper biochemistry and molecular biology
-
Linder MC, Hazegh-Azam M (1996) Copper biochemistry and molecular biology. Am J Clin Nutr 63:797S-811S
-
(1996)
Am J Clin Nutr
, vol.63
-
-
Linder, M.C.1
Hazegh-Azam, M.2
-
28
-
-
12244278233
-
Human copper-transporting ATPase ATP7B (the Wilson's disease protein): Biochemical properties and regulation
-
Lutsenko S, Efremov RG, Tsivkovskii R, Walker JM (2002) Human copper-transporting ATPase ATP7B (the Wilson's disease protein): Biochemical properties and regulation. J Bioenerg Biomembr 34:351-362.
-
(2002)
J Bioenerg Biomembr
, vol.34
, pp. 351-362
-
-
Lutsenko, S.1
Efremov, R.G.2
Tsivkovskii, R.3
Walker, J.M.4
-
29
-
-
0035987245
-
Menkes gene study in the Chinese population
-
Mak BS, Chi CS, Tsai CR (2002) Menkes gene study in the Chinese population. J Child Neurol 17:250-252
-
(2002)
J Child Neurol
, vol.17
, pp. 250-252
-
-
Mak, B.S.1
Chi, C.S.2
Tsai, C.R.3
-
30
-
-
78651124591
-
A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration
-
Menkes JH, Alter M, Steigleder G, Weakley DR, Sun JH (1962) A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29:764-779
-
(1962)
Pediatrics
, vol.29
, pp. 764-779
-
-
Menkes, J.H.1
Alter, M.2
Steigleder, G.3
Weakley, D.R.4
Sun, J.H.5
-
31
-
-
0000241356
-
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 (2000) Similar splice-site mutations of the ATP7A gene lead to different phenotypes: Classical Menkes disease or occipital horn syndrome. Am J Hum Genet 66:1121-1220
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1211-1220
-
-
Møller, L.B.1
Tümer, Z.2
Lund, C.3
Petersen, C.4
Cole, T.5
Hanusch, R.6
Seidel, J.7
Jensen, L.R.8
Horn, N.9
-
32
-
-
0032701243
-
An Ile/Val polymorphism at codon 1464 of the ATP7A gene
-
Ogawa A, Yamamoto S, Takayanagi M, Kogo T, Kanazawa M, Kohno Y (1999a) An Ile/Val polymorphism at codon 1464 of the ATP7A gene. J Hum Genet 44:423-424
-
(1999)
J Hum Genet
, vol.4
, pp. 423-424
-
-
Ogawa, A.1
Yamamoto, S.2
Takayanagi, M.3
Kogo, T.4
Kanazawa, M.5
Kohno, Y.6
-
33
-
-
0032917818
-
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 (1999b) Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. J Hum Genet 44:206-209
-
(1999)
J Hum Genet
, vol.44
, pp. 206-209
-
-
Ogawa, A.1
Yamamoto, S.2
Takayanagi, M.3
Kogo, T.4
Kanazawa, M.5
Kohno, Y.6
-
34
-
-
0033776832
-
Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphism in the Japanese population
-
Ogawa A, Yamamoto S, Kanazawa M, Ogawa E, Takayanagi M, Hasegawa S, Kohno Y (2000) Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphism in the Japanese population. J Hum Genet 45:315-317
-
(2000)
J Hum Genet
, vol.45
, pp. 315-317
-
-
Ogawa, A.1
Yamamoto, S.2
Kanazawa, M.3
Ogawa, E.4
Takayanagi, M.5
Hasegawa, S.6
Kohno, Y.7
-
35
-
-
0034889090
-
Transient temporal lobe changes and a novel mutations in a patient with Menkes disease
-
Ozawa H, Kodama H, Murata Y, Takashima S, Noma S (2001) Transient temporal lobe changes and a novel mutations in a patient with Menkes disease. Pediatr Int 43:437-440
-
(2001)
Pediatr Int
, vol.43
, pp. 437-440
-
-
Ozawa, H.1
Kodama, H.2
Murata, Y.3
Takashima, S.4
Noma, S.5
-
36
-
-
0029909937
-
Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: A novel mechanism of regulated trafficking
-
Petris MJ, Mercer JF, Culvenor JG, Lockhart P, Gleeson PA, Camakaris J (1996) Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: A novel mechanism of regulated trafficking. EMBO J 15:6084-6095
-
(1996)
EMBO J
, vol.15
, pp. 6084-6095
-
-
Petris, M.J.1
Mercer, J.F.2
Culvenor, J.G.3
Lockhart, P.4
Gleeson, P.A.5
Camakaris, J.6
-
37
-
-
0031730641
-
A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network
-
Petris MJ, Camakaris J, Greenough M, LaFontaine S, Mercer JF (1998) A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network. Hum Mol Genet 7:2063-2071
-
(1998)
Hum Mol Genet
, vol.7
, pp. 2063-2071
-
-
Petris, M.J.1
Camakaris, J.2
Greenough, M.3
Lafontaine, S.4
Mercer, J.F.5
-
38
-
-
0036953710
-
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 (2002) X-linked recessive Menkes disease: Identification of partial gene deletions in affected males. Clin Genet 62:449-457
-
(2002)
Clin Genet
, vol.62
, pp. 449-457
-
-
Poulsen, L.1
Horn, N.2
Heilstrup, H.3
Lund, C.4
Tümer, Z.5
Møller, L.B.6
-
39
-
-
0029792846
-
Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype
-
Proud VK, Mussell HG, Kaler SG, Young DW, Percy AK (1996) Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype. Am J Med Genet 65:44-51
-
(1996)
Am J Med Genet
, vol.65
, pp. 44-51
-
-
Proud, V.K.1
Mussell, H.G.2
Kaler, S.G.3
Young, D.W.4
Percy, A.K.5
-
40
-
-
0031934417
-
Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolished Golgi localization of the menkes protein and produces the occipital horn syndrome
-
Qi M, Byers PH (1998) Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolished Golgi localization of the menkes protein and produces the occipital horn syndrome. Hum Mol Genet 7:465-469
-
(1998)
Hum Mol Genet
, vol.7
, pp. 465-469
-
-
Qi, M.1
Byers, P.H.2
-
41
-
-
0033862878
-
Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion
-
Roelofsen H, Wolters H, Van Luyn MJ, Miura N, Kuipers F, Vonk RJ (2000) Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion. Gastroenterology 119: 782-793
-
(2000)
Gastroenterology
, vol.119
, pp. 782-793
-
-
Roelofsen, H.1
Wolters, H.2
Van Luyn, M.J.3
Miura, N.4
Kuipers, F.5
Vonk, R.J.6
-
42
-
-
0030862748
-
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family
-
Ronce N, Moizard MP, Robb L, Toutain A, Villard L, Moraine C (1997) A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. Am J Hum Genet 61:233-238
-
(1997)
Am J Hum Genet
, vol.61
, pp. 233-238
-
-
Ronce, N.1
Moizard, M.P.2
Robb, L.3
Toutain, A.4
Villard, L.5
Moraine, C.6
-
43
-
-
0032920935
-
Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver
-
Schaefer M, Hopkins RG, Failla ML, Gitlin JD (1999) Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver. Am J Physiol 276:G639-G646
-
(1999)
Am J Physiol
, vol.276
-
-
Schaefer, M.1
Hopkins, R.G.2
Failla, M.L.3
Gitlin, J.D.4
-
44
-
-
0030199612
-
CPx-type ATPases: A class of P-type ATPases that pump heavy metals
-
Solioz M, Vulpe C (1996) CPx-type ATPases: A class of P-type ATPases that pump heavy metals. Trends Biochem Sci 21:237-241
-
(1996)
Trends Biochem Sci
, vol.21
, pp. 237-241
-
-
Solioz, M.1
Vulpe, C.2
-
45
-
-
0034621834
-
Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 Å resolution
-
Toyoshima C, Nakasako M, Nomura H, Ogawa H (2000) Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 Å resolution. Nature 405:647-655
-
(2000)
Nature
, vol.405
, pp. 647-655
-
-
Toyoshima, C.1
Nakasako, M.2
Nomura, H.3
Ogawa, H.4
-
46
-
-
0030928379
-
Menkes disease: Recent advances and new aspects
-
Tümer Z, Horn N (1997) Menkes disease: Recent advances and new aspects. J Med Genet 34:265-274
-
(1997)
J Med Genet
, vol.34
, pp. 265-274
-
-
Tümer, Z.1
Horn, N.2
-
47
-
-
0026518090
-
Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2
-
Tümer Z, Tommerup N, Tönnesen T, Kreuden J, Craig IW, Horn N (1992) Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2. Hum Genet 88:668-672
-
(1992)
Hum Genet
, vol.88
, pp. 668-672
-
-
Tümer, Z.1
Tommerup, N.2
Tönnesen, T.3
Kreuden, J.4
Craig, I.W.5
Horn, N.6
-
48
-
-
0028015745
-
First trimester prenatal diagnosis of Menkes disease by DNA analysis
-
Tümer Z, Tönnesen T, Bohmann J, Marg W, Horn N (1994a) First trimester prenatal diagnosis of Menkes disease by DNA analysis. J Med Genet 31:615-617
-
(1999)
J Med Genet
, vol.31
, pp. 615-617
-
-
Tümer, Z.1
Tönnesen, T.2
Bohmann, J.3
Marg, W.4
Horn, N.5
-
49
-
-
0028060655
-
Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis
-
Tümer Z, Tönnesen T, Horn N (1994b) Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis. J Inherit Metab Dis 17:267-270
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 267-270
-
-
Tümer, Z.1
Tönnesen, T.2
Horn, N.3
-
50
-
-
0029062630
-
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
-
Tümer Z, Vural B, Tönnesen T, Chelly J, Monaco AP, Horn N (1995) Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics 26:437-442
-
(1995)
Genomics
, vol.26
, pp. 437-442
-
-
Tümer, Z.1
Vural, B.2
Tönnesen, T.3
Chelly, J.4
Monaco, A.P.5
Horn, N.6
-
51
-
-
0029685249
-
Early copper-histidine treatment for Menkes disease
-
Tümer Z, Horn N, Tönnesen T, Christodoulou J, Clarke JT, Sarkar B (1996) Early copper-histidine treatment for Menkes disease. Nat Genet 12:11-13
-
(1996)
Nat Genet
, vol.12
, pp. 11-13
-
-
Tümer, Z.1
Horn, N.2
Tönnesen, T.3
Christodoulou, J.4
Clarke, J.T.5
Sarkar, B.6
-
52
-
-
0031025976
-
Identification of point mutations in 41 unrelated patients affected with Menkes disease
-
Tümer Z, Lund C, Tolshave J, Vural B, Tönnesen T, Horn N (1997) Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet 60:63-71
-
(1997)
Am J Hum Genet
, vol.60
, pp. 63-71
-
-
Tümer, Z.1
Lund, C.2
Tolshave, J.3
Vural, B.4
Tönnesen, T.5
Horn, N.6
-
53
-
-
0033278332
-
Mutation spectrum of ATP7A, the gene defective in Menkes disease
-
Tümer Z, Møller LB, Horn N (1999) Mutation spectrum of ATP7A, the gene defective in Menkes disease. Adv Exp Med Biol 448:83-95
-
(1999)
Adv Exp Med Biol
, vol.448
, pp. 83-95
-
-
Tümer, Z.1
Møller, L.B.2
Horn, N.3
-
54
-
-
0034810883
-
Functional studies on the Wilson copper P-type ATPase and toxic milk mouse mutant
-
Voskoboinik I, Greenough M, La Fontaine S, Mercer JF, Camakaris J (2001) Functional studies on the Wilson copper P-type ATPase and toxic milk mouse mutant. Biochem Biophys Res Commun 281:966-970
-
(2001)
Biochem Biophys Res Commun
, vol.281
, pp. 966-970
-
-
Voskoboinik, I.1
Greenough, M.2
La Fontaine, S.3
Mercer, J.F.4
Camakaris, J.5
-
55
-
-
0027446365
-
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 (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 3:7-13
-
(1993)
Nat Genet
, vol.3
, pp. 7-13
-
-
Vulpe, C.1
Levinson, B.2
Whitney, S.3
Packman, S.4
Gitschier, J.5
|