-
1
-
-
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, Sung JH: A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29: 764-779, 1962.
-
(1962)
Pediatrics
, vol.29
, pp. 764-779
-
-
Menkes, J.H.1
Alter, M.2
Steigleder, G.3
Weakley, D.R.4
Sung, J.H.5
-
2
-
-
0026928949
-
Menkes Disease: An X-linked neurological disorder of the copper metabolism
-
Horn N, Tønnesen T, Tümer Z: Menkes Disease: An X-linked neurological disorder of the copper metabolism. Brain Pat 2:351-362, 1992.
-
(1992)
Brain Pat
, vol.2
, pp. 351-362
-
-
Horn, N.1
Tønnesen, T.2
Tümer, Z.3
-
3
-
-
0000386450
-
Disorders of copper transport
-
Scriver JR, Beaudet AL, Sly WS, Valle D (eds): New York: McGraw-Hill
-
Danks DM: Disorders of copper transport. In Scriver JR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic Basis of Inherited Disease." New York: McGraw-Hill, 1995, p. 2211-2235.
-
(1995)
The Metabolic Basis of Inherited Disease
, pp. 2211-2235
-
-
Danks, D.M.1
-
4
-
-
0029987184
-
Menkes disease: Recent advances and new insights into copper metabolism
-
Tümer Z, Horn N: Menkes disease: Recent advances and new insights into copper metabolism. Ann Med 28:121-129, 1996.
-
(1996)
Ann Med
, vol.28
, pp. 121-129
-
-
Tümer, Z.1
Horn, N.2
-
5
-
-
0004984491
-
Variability in clinical expression of an X-linked copper disturbance, Menkes disease
-
Sarkar B (ed): New York: Marcel Dekker
-
Horn N, Tønnesen T, Tümer Z: Variability in clinical expression of an X-linked copper disturbance, Menkes disease. In Sarkar B (ed): "Genetic Response to Metals." New York: Marcel Dekker, 1995, p. 285-303.
-
(1995)
Genetic Response to Metals
, pp. 285-303
-
-
Horn, N.1
Tønnesen, T.2
Tümer, Z.3
-
6
-
-
0021021242
-
Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome
-
Peltonen L, Kuivaniemi H, Palotie A, Horn N, Kaitila I, Kivirikko KI: Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome. Biochemistry 22:6156-6163, 1983.
-
(1983)
Biochemistry
, vol.22
, pp. 6156-6163
-
-
Peltonen, L.1
Kuivaniemi, H.2
Palotie, A.3
Horn, N.4
Kaitila, I.5
Kivirikko, K.I.6
-
8
-
-
0023759753
-
The mild form of Menkes disease: Progress report on the original case
-
Danks DM: The mild form of Menkes disease: Progress report on the original case. Am J Med Genet 30:859-864, 1988.
-
(1988)
Am J Med Genet
, vol.30
, pp. 859-864
-
-
Danks, D.M.1
-
9
-
-
85034680283
-
Menkes' kinky-hair syndrome
-
Danks DM, Stevens BJ, Campbell PE, Gillespie JM, Walker-Smith J, Blomfield J, Turner B: Menkes' kinky-hair syndrome. Lancet 1:1100-1102, 1972.
-
(1972)
Lancet
, vol.1
, pp. 1100-1102
-
-
Danks, D.M.1
Stevens, B.J.2
Campbell, P.E.3
Gillespie, J.M.4
Walker-Smith, J.5
Blomfield, J.6
Turner, B.7
-
10
-
-
0016836862
-
Extra-hepatic storage of copper, a male foetus suspected of Menkes' disease
-
Heydorn K, Damsgaard E, Horn N, Mikkelsen M, Tygstrup I, Vestermark S, Weber J: Extra-hepatic storage of copper, A male foetus suspected of Menkes' disease. Humangenetik 29:171-175, 1975.
-
(1975)
Humangenetik
, vol.29
, pp. 171-175
-
-
Heydorn, K.1
Damsgaard, E.2
Horn, N.3
Mikkelsen, M.4
Tygstrup, I.5
Vestermark, S.6
Weber, J.7
-
11
-
-
0018081897
-
Is Menkes syndrome a copper storage disorder?
-
Horn N, Heydorn K, Damsgaard E, Tygstrup I, Vestermark S: Is Menkes syndrome a copper storage disorder? Clin Genet 14:186-187, 1978.
-
(1978)
Clin Genet
, vol.14
, pp. 186-187
-
-
Horn, N.1
Heydorn, K.2
Damsgaard, E.3
Tygstrup, I.4
Vestermark, S.5
-
12
-
-
0018829832
-
Menkes X linked disease: Heterozygous phenotype in uncloned fibroblast cultures
-
Horn N: Menkes X linked disease: Heterozygous phenotype in uncloned fibroblast cultures. J Med Genet 17:257-261, 1980.
-
(1980)
J Med Genet
, vol.17
, pp. 257-261
-
-
Horn, N.1
-
13
-
-
0021611983
-
Linkage studies in Menkes' disease, the Xg blood group system and C-banding of the X chromosome
-
Horn N, Stene J, Møllerkaer A-M, Friedrich U: Linkage studies in Menkes' disease, The Xg blood group system and C-banding of the X chromosome. Ann Hum Genet 48:161-172, 1984.
-
(1984)
Ann Hum Genet
, vol.48
, pp. 161-172
-
-
Horn, N.1
Stene, J.2
Møllerkaer, A.-M.3
Friedrich, U.4
-
14
-
-
0020637569
-
Menkes kinky hair disease: A search for closely linked restriction fragment length polymorphism
-
Wieacker P, Horn N, Pearson P, Wienker TF, McKay E, Ropers HH: Menkes kinky hair disease: A search for closely linked restriction fragment length polymorphism. Hum Genet 64:139-142, 1983.
-
(1983)
Hum Genet
, vol.64
, pp. 139-142
-
-
Wieacker, P.1
Horn, N.2
Pearson, P.3
Wienker, T.F.4
McKay, E.5
Ropers, H.H.6
-
15
-
-
0022914189
-
Menkes syndrome in a girl with X-autosome translocation
-
Kapur S, Higgins JV, Delp K, Rogers B: Menkes syndrome in a girl with X-autosome translocation. Am J Med Genet 26:503-510, 1987.
-
(1987)
Am J Med Genet
, vol.26
, pp. 503-510
-
-
Kapur, S.1
Higgins, J.V.2
Delp, K.3
Rogers, B.4
-
16
-
-
0020502312
-
Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother
-
Tabor A, Andersen O, Lundsteen C, Niebuhr E, Sardemann H: Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother. Hum Genet 64:196-199, 1983.
-
(1983)
Hum Genet
, vol.64
, pp. 196-199
-
-
Tabor, A.1
Andersen, O.2
Lundsteen, C.3
Niebuhr, E.4
Sardemann, H.5
-
17
-
-
0025283719
-
Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome
-
Yang H-M, Lund T, Niebuhr E, Nørby S, Schwartz M, Shen L: Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome. Clin Genet 38:94-104, 1990.
-
(1990)
Clin Genet
, vol.38
, pp. 94-104
-
-
Yang, H.-M.1
Lund, T.2
Niebuhr, E.3
Nørby, S.4
Schwartz, M.5
Shen, L.6
-
18
-
-
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, Tønnesen T, Kreuder J, Craig IW, Horn N: 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.
-
(1992)
Hum Genet
, vol.88
, pp. 668-672
-
-
Tümer, Z.1
Tommerup, N.2
Tønnesen, T.3
Kreuder, J.4
Craig, I.W.5
Horn, N.6
-
19
-
-
0027469882
-
A cytogenetic survey in Menkes disease: Implications for the detection of chromosomal rearrangements in X linked disorders
-
Tommerup N, Tümer Z, Tønnesen T, Horn N: A cytogenetic survey in Menkes disease: Implications for the detection of chromosomal rearrangements in X linked disorders. J Med Genet 30:314-315, 1993.
-
(1993)
J Med Genet
, vol.30
, pp. 314-315
-
-
Tommerup, N.1
Tümer, Z.2
Tønnesen, T.3
Horn, N.4
-
20
-
-
0025905007
-
Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1
-
Verga V, Hall BK, Wang S, Johnson S, Higgins JV, Glover TW: Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. Am J Hum Genet 48:1133-1138, 1991.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1133-1138
-
-
Verga, V.1
Hall, B.K.2
Wang, S.3
Johnson, S.4
Higgins, J.V.5
Glover, T.W.6
-
21
-
-
0025961771
-
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
-
Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF: A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349:38-44, 1991a.
-
(1991)
Nature
, vol.349
, pp. 38-44
-
-
Brown, C.J.1
Ballabio, A.2
Rupert, J.L.3
Lafreniere, R.G.4
Grompe, M.5
Tonlorenzi, R.6
Willard, H.F.7
-
22
-
-
0026007719
-
Localization of the X inactivation centre on the human X chromosome in Xq13
-
Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, Ledbetter DH, Levy E, Craig IW, Willard HF: Localization of the X inactivation centre on the human X chromosome in Xq13. Nature 349:82-84, 1991b.
-
(1991)
Nature
, vol.349
, pp. 82-84
-
-
Brown, C.J.1
Lafreniere, R.G.2
Powers, V.E.3
Sebastio, G.4
Ballabio, A.5
Pettigrew, A.L.6
Ledbetter, D.H.7
Levy, E.8
Craig, I.W.9
Willard, H.F.10
-
23
-
-
0026653615
-
Multipoint linkage analysis in Menkes disease
-
Tønnesen T, Petterson A, Kruse TA, Gerdes A-M, Horn N: Multipoint linkage analysis in Menkes disease. Am J Hum Genet 50:1012-1017, 1992.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1012-1017
-
-
Tønnesen, T.1
Petterson, A.2
Kruse, T.A.3
Gerdes, A.-M.4
Horn, N.5
-
24
-
-
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: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 3:7-13, 1993.
-
(1993)
Nat Genet
, vol.3
, pp. 7-13
-
-
Vulpe, C.1
Levinson, B.2
Whitney, S.3
Packman, S.4
Gitschier, J.5
-
25
-
-
0027500142
-
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
-
Chelly J, Tümer Z, Tønnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N, Monaco AP: Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 3:14-19, 1993.
-
(1993)
Nat Genet
, vol.3
, pp. 14-19
-
-
Chelly, J.1
Tümer, Z.2
Tønnesen, T.3
Petterson, A.4
Ishikawa-Brush, Y.5
Tommerup, N.6
Horn, N.7
Monaco, A.P.8
-
26
-
-
0027475976
-
Isolation of a partial candidate gene for Menkes disease by positional cloning
-
Mercer JFB, Livingston J, Hall B, Paynter JA, Begy C, Chandrasekharappa S, Lockhart P, Grimes A, Bhave M, Siemieniak D, Glover TW: Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet 3:20-25, 1993.
-
(1993)
Nat Genet
, vol.3
, pp. 20-25
-
-
Mercer, J.F.B.1
Livingston, J.2
Hall, B.3
Paynter, J.A.4
Begy, C.5
Chandrasekharappa, S.6
Lockhart, P.7
Grimes, A.8
Bhave, M.9
Siemieniak, D.10
Glover, T.W.11
-
27
-
-
0026938006
-
Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease
-
Tümer Z, Chelly J, Tommerup N, Ishikawa-Brush Y, Tønnesen T, Monaco AP, Horn N: Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease. Hum Molec Genet 1:483-489, 1993.
-
(1993)
Hum Molec Genet
, vol.1
, pp. 483-489
-
-
Tümer, Z.1
Chelly, J.2
Tommerup, N.3
Ishikawa-Brush, Y.4
Tønnesen, T.5
Monaco, A.P.6
Horn, N.7
-
28
-
-
0027288228
-
Primary structure of two P-type ATPases involved in copper homeostasis in Enterococcus hirae
-
Odermatt A, Suter H, Krapf R, Solioz M: Primary structure of two P-type ATPases involved in copper homeostasis in Enterococcus hirae. J Biol Chem 268:12775-12779, 1993.
-
(1993)
J Biol Chem
, vol.268
, pp. 12775-12779
-
-
Odermatt, A.1
Suter, H.2
Krapf, R.3
Solioz, M.4
-
29
-
-
0027376523
-
Human Menkes X-chromosome disease and the staphylococcal cadmium-resistance ATPase: A remarkable similarity in protein sequences
-
Silver S, Nucifora G, Phung LT: Human Menkes X-chromosome disease and the staphylococcal cadmium-resistance ATPase: A remarkable similarity in protein sequences. Mol Microbiol 10:7-12, 1993.
-
(1993)
Mol Microbiol
, vol.10
, pp. 7-12
-
-
Silver, S.1
Nucifora, G.2
Phung, L.T.3
-
30
-
-
0028140357
-
P-type ATPases of eukaryotes and bacteria: Sequence analyses and construction of phylogenetic trees
-
Fagan MJ, Saier MH: P-type ATPases of eukaryotes and bacteria: Sequence analyses and construction of phylogenetic trees. J Mol Evol 38:57-99, 1994.
-
(1994)
J Mol Evol
, vol.38
, pp. 57-99
-
-
Fagan, M.J.1
Saier, M.H.2
-
31
-
-
0029062630
-
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: Characterization of the exon structure of the Menkes disease gene using Vectorette PCR. Genomics 26:437-442, 1995.
-
(1995)
Genomics
, vol.26
, pp. 437-442
-
-
Tümer, Z.1
Vural, B.2
Tønnesen, T.3
Chelly, J.4
Monaco, A.P.5
Horn, N.6
-
32
-
-
0020050314
-
A catalogue of splice junction sequences
-
Mount SM: A catalogue of splice junction sequences. Nucl Acids Res 10:459-472, 1982.
-
(1982)
Nucl Acids Res
, vol.10
, pp. 459-472
-
-
Mount, S.M.1
-
33
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
-
Shapiro MB, Senapathy P: RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174, 1987.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7155-7174
-
-
Shapiro, M.B.1
Senapathy, P.2
-
34
-
-
0027313286
-
Genomic organization of thi sequence coding for fibrillin, the defective gene product in Marfan syndrome
-
Pereira L, D'Alessio M, Ramirez F, Lynel JR, Sykes B, Pangilinan T, Banadio J: Genomic organization of thi sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Mol Genet 2:961-968, 1993.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 961-968
-
-
Pereira, L.1
D'Alessio, M.2
Ramirez, F.3
Lynel, J.R.4
Sykes, B.5
Pangilinan, T.6
Banadio, J.7
-
35
-
-
0029129769
-
Molecular structure of the Menkes disease gene (ATP7A)
-
Dierick HA, Ambrosini L, Spencer J, Glover TW, Mercer JFB: Molecular structure of the Menkes disease gene (ATP7A). Genomics 28:462-469, 1995.
-
(1995)
Genomics
, vol.28
, pp. 462-469
-
-
Dierick, H.A.1
Ambrosini, L.2
Spencer, J.3
Glover, T.W.4
Mercer, J.F.B.5
-
36
-
-
0028060655
-
Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis
-
Tümer Z, Tønnesen T, Horn N: Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis. J Inher Metab Dis 17:267-270, 1994.
-
(1994)
J Inher Metab Dis
, vol.17
, pp. 267-270
-
-
Tümer, Z.1
Tønnesen, T.2
Horn, N.3
-
37
-
-
0028015745
-
First trimester prenatal diagnosis of Menkes disease by DNA analysis
-
Tümer Z, Tønnesen T, Böhmann J, Marg W, Horn N: First trimester prenatal diagnosis of Menkes disease by DNA analysis. J Med Genet 31:615-617, 1994.
-
(1994)
J Med Genet
, vol.31
, pp. 615-617
-
-
Tümer, Z.1
Tønnesen, T.2
Böhmann, J.3
Marg, W.4
Horn, N.5
-
38
-
-
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: Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet 55:883-889, 1994.
-
(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
-
39
-
-
0031025976
-
Identification of point mutations in 41 unrelated Menkes disease patients
-
Tümer Z, Lund CL, Vural B, Tolshave J, Tønnesen T, Horn N: Identification of point mutations in 41 unrelated Menkes disease patients. Am J Hum Genetics 60:63-71, 1997.
-
(1997)
Am J Hum Genetics
, vol.60
, pp. 63-71
-
-
Tümer, Z.1
Lund, C.L.2
Vural, B.3
Tolshave, J.4
Tønnesen, T.5
Horn, N.6
-
40
-
-
0029685249
-
Early copper-histidine treatment for Menkes disease
-
Tümer Z, Horn N, Tønnesen T, Christodoulou J, Clarke JTR, Sarkar B: Early copper-histidine treatment for Menkes disease. Nat Genet 12:11-13, 1996.
-
(1996)
Nat Genet
, vol.12
, pp. 11-13
-
-
Tümer, Z.1
Horn, N.2
Tønnesen, T.3
Christodoulou, J.4
Clarke, J.T.R.5
Sarkar, B.6
-
41
-
-
0018094327
-
An autopsy case of Menkes' kinky hair disease
-
Matsubara O, Tanaka H, Nasu M, Okeda R: An autopsy case of Menkes' kinky hair disease. Acta Pathol Jpn 28:585-594, 1978.
-
(1978)
Acta Pathol Jpn
, vol.28
, pp. 585-594
-
-
Matsubara, O.1
Tanaka, H.2
Nasu, M.3
Okeda, R.4
-
42
-
-
0018778237
-
Menkes' kinky hair syndrome: Report of an autopsy case and his female sibling with similar clinical manifestations
-
Tokyo
-
Iwakawa Y, Niwa T, Tomita M: Menkes' kinky hair syndrome: Report of an autopsy case and his female sibling with similar clinical manifestations. Brain Dev (Tokyo) 11:260-266, 1979.
-
(1979)
Brain Dev
, vol.11
, pp. 260-266
-
-
Iwakawa, Y.1
Niwa, T.2
Tomita, M.3
-
43
-
-
0005017259
-
Menkes' Kinky-Hair Syndrome: Report of a case in a female infant
-
Barton NW, Dambrosia JM, Barranger JA: Menkes' Kinky-Hair Syndrome: Report of a case in a female infant. Neurology 33 [Suppl 2]:154, 1983.
-
(1983)
Neurology
, vol.33
, Issue.2 SUPPL.
, pp. 154
-
-
Barton, N.W.1
Dambrosia, J.M.2
Barranger, J.A.3
-
44
-
-
0021086474
-
Possibility of Menkes-like disorder of copper metabolism in a girl
-
Favier A, Boujet C: Possibility of Menkes-like disorder of copper metabolism in a girl. J Inher Metab Dis 6 Suppl 2:89, 1983.
-
(1983)
J Inher Metab Dis
, vol.6
, Issue.2 SUPPL.
, pp. 89
-
-
Favier, A.1
Boujet, C.2
-
45
-
-
0025225636
-
Clinical expression of Menkes syndrome in females
-
Gerdes A-M, Tønnesen T, Horn N, Grisar T, Marg W, Müller W, Reinsch R, Barton NW, Guiraud P, Joannard A, Richard MJ, Güttler F: Clinical expression of Menkes syndrome in females. Clin Genet 38:452-459, 1990.
-
(1990)
Clin Genet
, vol.38
, pp. 452-459
-
-
Gerdes, A.-M.1
Tønnesen, T.2
Horn, N.3
Grisar, T.4
Marg, W.5
Müller, W.6
Reinsch, R.7
Barton, N.W.8
Guiraud, P.9
Joannard, A.10
Richard, M.J.11
Güttler, F.12
-
46
-
-
0028080313
-
X;1 translocation in a female Menkes patient: Characterization by fluorescence in situ hybridization
-
Beck J, Enders H, Schliephacke M, Buchwald-Saal M, Tümer Z: X;1 translocation in a female Menkes patient: Characterization by fluorescence in situ hybridization. Clin Genet 46:295-298, 1994.
-
(1994)
Clin Genet
, vol.46
, pp. 295-298
-
-
Beck, J.1
Enders, H.2
Schliephacke, M.3
Buchwald-Saal, M.4
Tümer, Z.5
-
47
-
-
0024043305
-
Atypical Menkes steely hair disease
-
Westman JA, Richardson DC, Rennert OM, Morrow G: Atypical Menkes steely hair disease. Am J Med Genet 30:853-858, 1988.
-
(1988)
Am J Med Genet
, vol.30
, pp. 853-858
-
-
Westman, J.A.1
Richardson, D.C.2
Rennert, O.M.3
Morrow, G.4
-
48
-
-
0019219241
-
Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome
-
Royce PM, Camakaris J, Danks DM: Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. Biochem J 192:579-586, 1980.
-
(1980)
Biochem J
, vol.192
, pp. 579-586
-
-
Royce, P.M.1
Camakaris, J.2
Danks, D.M.3
-
49
-
-
0025990715
-
Molecular cloning of human lysyl oxidase and assignment of the gene to chromosome 5q23.3-31.2
-
Hämäläinen E-R, Jones TA, Sheer D, Taskinen K, Pihlajaniemi T, Kivirikko KI: Molecular cloning of human lysyl oxidase and assignment of the gene to chromosome 5q23.3-31.2. Genomics 11: 508-516, 1991.
-
(1991)
Genomics
, vol.11
, pp. 508-516
-
-
Hämäläinen, E.-R.1
Jones, T.A.2
Sheer, D.3
Taskinen, K.4
Pihlajaniemi, T.5
Kivirikko, K.I.6
-
50
-
-
0027460242
-
Are X-linked cutis laxa and Menkes disease allelic?
-
Levinson B, Gitschier J, Vulpe C, Whitney S, Yang S, Packman S: Are X-linked cutis laxa and Menkes disease allelic? Nat Genet 3:6, 1993.
-
(1993)
Nat Genet
, vol.3
, pp. 6
-
-
Levinson, B.1
Gitschier, J.2
Vulpe, C.3
Whitney, S.4
Yang, S.5
Packman, S.6
-
51
-
-
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: Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet 8:195-202, 1994.
-
(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
-
52
-
-
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: 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.
-
(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
-
53
-
-
0001372285
-
Mottled, a sex-modified lethal in the house mouse
-
Fraser AS, Sobey S, Spicer CC: Mottled, a sex-modified lethal in the house mouse. J Genet 51:217-221, 1953.
-
(1953)
J Genet
, vol.51
, pp. 217-221
-
-
Fraser, A.S.1
Sobey, S.2
Spicer, C.C.3
-
54
-
-
0002780546
-
Catalog of mutant genes and polymorphic loci
-
Lyon MF, Searle AG (eds): Oxford: Oxford University Press
-
Green MC: Catalog of mutant genes and polymorphic loci. In Lyon MF, Searle AG (eds): "Genetic Variants and Strains of the Laboratory Mouse." Oxford: Oxford University Press, 1989, p. 241-244.
-
(1989)
Genetic Variants and Strains of the Laboratory Mouse
, pp. 241-244
-
-
Green, M.C.1
-
55
-
-
0026353685
-
Report of the comparative committee for human, mouse and other rodents
-
Davisson MT, Lalley PA, Peters J, Doolittle DP, Hillyard AL, Searle AG: Report of the comparative committee for human, mouse and other rodents. Cytogenet Cell Genet 58:1152-1189, 1991.
-
(1991)
Cytogenet Cell Genet
, vol.58
, pp. 1152-1189
-
-
Davisson, M.T.1
Lalley, P.A.2
Peters, J.3
Doolittle, D.P.4
Hillyard, A.L.5
Searle, A.G.6
-
56
-
-
0016330759
-
Primary defect in copper transport underlies mottled mutants in the mouse
-
Hunt DM: Primary defect in copper transport underlies mottled mutants in the mouse. Nature 249:852-854, 1974.
-
(1974)
Nature
, vol.249
, pp. 852-854
-
-
Hunt, D.M.1
-
57
-
-
0022596481
-
Of mice and men, metals and mutations
-
Danks DM: Of mice and men, metals and mutations. J Med Genet 23:99-106, 1986.
-
(1986)
J Med Genet
, vol.23
, pp. 99-106
-
-
Danks, D.M.1
-
58
-
-
0017626316
-
Decreased lysyl oxidase activity in the aneurisme-prone, mottled mouse
-
Rowe DW, McGoodwin EB, Martin GR, Grahn D: Decreased lysyl oxidase activity in the aneurisme-prone, mottled mouse. J Biol Chem 252:939-942, 1977.
-
(1977)
J Biol Chem
, vol.252
, pp. 939-942
-
-
Rowe, D.W.1
McGoodwin, E.B.2
Martin, G.R.3
Grahn, D.4
-
59
-
-
0017757856
-
Electrophoretic variation for X-chromosome-linked phosphoglycerate kinase (PGK-1) in the mouse
-
Nielsen JT, Chapman VM: Electrophoretic variation for X-chromosome-linked phosphoglycerate kinase (PGK-1) in the mouse. Genetics 87:319-325, 1977.
-
(1977)
Genetics
, vol.87
, pp. 319-325
-
-
Nielsen, J.T.1
Chapman, V.M.2
-
60
-
-
0025828906
-
High-density molecular map of the central span of the mouse X chromosome
-
Brockdorff N, Kay G, Smith S, Keer JT, Hamvas RMJ, Brown SDM, Rastan S: High-density molecular map of the central span of the mouse X chromosome. Genomics 10:17-22, 1991.
-
(1991)
Genomics
, vol.10
, pp. 17-22
-
-
Brockdorff, N.1
Kay, G.2
Smith, S.3
Keer, J.T.4
Hamvas, R.M.J.5
Brown, S.D.M.6
Rastan, S.7
-
61
-
-
0021362518
-
Report of the committee on the genetic constitution of the X and Y chromosomes
-
Miller OJ, Drayna D, Goodfellow P: Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet 37:176-204, 1984.
-
(1984)
Cytogenet Cell Genet
, vol.37
, pp. 176-204
-
-
Miller, O.J.1
Drayna, D.2
Goodfellow, P.3
-
62
-
-
0028086041
-
Analysis of Mnk, the murine homologue of the locus for Menkes' disease, in normal and mottled (Mo) mice
-
George AM, Reed V, Glenister P, Chelly J, Tümer Z, Horn N, Monaco AP, Boyd Y: Analysis of Mnk, the murine homologue of the locus for Menkes' disease, in normal and mottled (Mo) mice. Genomics 22:27-35, 1994.
-
(1994)
Genomics
, vol.22
, pp. 27-35
-
-
George, A.M.1
Reed, V.2
Glenister, P.3
Chelly, J.4
Tümer, Z.5
Horn, N.6
Monaco, A.P.7
Boyd, Y.8
-
63
-
-
0028247206
-
The mottled gene is the mouse homologue of the Menkes disease gene
-
Levinson B, Vulpe C, Elder B, Martin C, Verley F, Packman S, Gitschier J: The mottled gene is the mouse homologue of the Menkes disease gene. Nat Genet 6:369-373, 1994.
-
(1994)
Nat Genet
, vol.6
, pp. 369-373
-
-
Levinson, B.1
Vulpe, C.2
Elder, B.3
Martin, C.4
Verley, F.5
Packman, S.6
Gitschier, J.7
-
64
-
-
0028246694
-
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice
-
Mercer JFB, Grimes A, Ambrosini L, Lockhart P, Paynter JA, Dierick HA, Glover TW: Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice. Nat Genet 6:374-378, 1994.
-
(1994)
Nat Genet
, vol.6
, pp. 374-378
-
-
Mercer, J.F.B.1
Grimes, A.2
Ambrosini, L.3
Lockhart, P.4
Paynter, J.A.5
Dierick, H.A.6
Glover, T.W.7
-
65
-
-
0017195932
-
Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease
-
Horn N: Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease. Lancet 29:1156-1160, 1976.
-
(1976)
Lancet
, vol.29
, pp. 1156-1160
-
-
Horn, N.1
-
66
-
-
0024318319
-
Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism
-
Tønnesen T, Horn N: Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism. J Inner Metab Dis 1:207-214, 1989.
-
(1989)
J Inner Metab Dis
, vol.1
, pp. 207-214
-
-
Tønnesen, T.1
Horn, N.2
-
67
-
-
0019452844
-
Menkes X-linked disease: Prenatal diagnosis of hemizygous males and heterozygous females
-
Horn N: Menkes X-linked disease: Prenatal diagnosis of hemizygous males and heterozygous females. Prenat Diagn 1:107-120, 1981.
-
(1981)
Prenat Diagn
, vol.1
, pp. 107-120
-
-
Horn, N.1
-
68
-
-
0009002354
-
Prenatal diagnosis of Menkes disease by direct copper analysis of trophoblast tissue
-
Fraccaro M, Simoni G, Brambati B (eds): Heidelberg: Springer-Verlag
-
Horn N, Søndergaard F, Damsgaard E, Heydorn K: Prenatal diagnosis of Menkes disease by direct copper analysis of trophoblast tissue. In Fraccaro M, Simoni G, Brambati B (eds): "First Trimester Fetal Diagnosis." Heidelberg: Springer-Verlag, 1985, p. 251-255.
-
(1985)
First Trimester Fetal Diagnosis
, pp. 251-255
-
-
Horn, N.1
Søndergaard, F.2
Damsgaard, E.3
Heydorn, K.4
-
69
-
-
0018897718
-
Menkes X linked disease: Two clonal cell populations in heterozygotes
-
Horn N, Mooy P, McGuire VM: Menkes X linked disease: Two clonal cell populations in heterozygotes. J Med Genet 17:262-266, 1980.
-
(1980)
J Med Genet
, vol.17
, pp. 262-266
-
-
Horn, N.1
Mooy, P.2
McGuire, V.M.3
-
70
-
-
0021054101
-
Menkes' X-linked disease: Prenatal diagnosis and carrier detection
-
Horn N: Menkes' X-linked disease: Prenatal diagnosis and carrier detection. J Inher Metab Dis 6 Suppl 1:59-62, 1983.
-
(1983)
J Inher Metab Dis
, vol.6
, Issue.1 SUPPL.
, pp. 59-62
-
-
Horn, N.1
-
71
-
-
0029125448
-
Two highly polymorphic CA repeats in the Menkes gene (ATP7A)
-
Begy CR, Dierick HA, Innis JW, Glover TW: Two highly polymorphic CA repeats in the Menkes gene (ATP7A). Hum Genet 96:355-356, 1995.
-
(1995)
Hum Genet
, vol.96
, pp. 355-356
-
-
Begy, C.R.1
Dierick, H.A.2
Innis, J.W.3
Glover, T.W.4
-
73
-
-
0002353138
-
Copper-amino acid complexes in human serum
-
Peisach J, Aisen P, Blumberg WE (eds): New York: Academic Press
-
Sarkar B, Kruck TPA: Copper-amino acid complexes in human serum. In Peisach J, Aisen P, Blumberg WE (eds): "The Biochemistry of Copper." New York: Academic Press, 1966, p. 183-196.
-
(1966)
The Biochemistry of Copper
, pp. 183-196
-
-
Sarkar, B.1
Kruck, T.P.A.2
-
74
-
-
0001000103
-
Recent trends in the application of coordination chemistry in biology and medicine
-
Banerjea D (ed): Oxford and New York: Pergamon Press
-
Sarkar B: Recent trends in the application of coordination chemistry in biology and medicine. In Banerjea D (ed): "IUPAC (International Union of Pure and Applied Chemistry) Coordination Chemistry." Oxford and New York: Pergamon Press, 1980, p. 191-200.
-
(1980)
IUPAC (International Union of Pure and Applied Chemistry) Coordination Chemistry
, pp. 191-200
-
-
Sarkar, B.1
-
75
-
-
0023785090
-
Menkes' disease: Long term treatment with copper and D-penicillamine
-
Nadal D, Baerlocher K: Menkes' disease: Long term treatment with copper and D-penicillamine. Eur J Pediatr 147:621-625, 1988.
-
(1988)
Eur J Pediatr
, vol.147
, pp. 621-625
-
-
Nadal, D.1
Baerlocher, K.2
-
76
-
-
0024831274
-
Copper histidinate therapy in Menkes' Disease: Prevention of progressive neurodegeneration
-
Sherwood G, Sarkar B, Sass Kortsak A: Copper histidinate therapy in Menkes' Disease: Prevention of progressive neurodegeneration. J Inherited Met Disorders 12 Suppl 2:393-396, 1989.
-
(1989)
J Inherited Met Disorders
, vol.12
, Issue.2 SUPPL.
, pp. 393-396
-
-
Sherwood, G.1
Sarkar, B.2
Sass Kortsak, A.3
-
78
-
-
7344240527
-
Treatment from birth converts Menkes disease into occipital horn syndrome, VI
-
Milano, Italy
-
Danks D: Treatment from birth converts Menkes disease into occipital horn syndrome, VI. International Congress of Inborn Errors of Metabolism, Milano, Italy, 95, 1994.
-
International Congress of Inborn Errors of Metabolism
, vol.95
, pp. 1994
-
-
Danks, D.1
-
79
-
-
0017711745
-
Menkes' kinky hair syndrome: Studies of copper metabolism and long term copper therapy
-
Williams DM, Atkin CL, Frens DB, Bray PF: Menkes' kinky hair syndrome: Studies of copper metabolism and long term copper therapy. Pediatr Res 11:823-826, 1977.
-
(1977)
Pediatr Res
, vol.11
, pp. 823-826
-
-
Williams, D.M.1
Atkin, C.L.2
Frens, D.B.3
Bray, P.F.4
-
80
-
-
0026072231
-
Correction of cerebrospinal fluid copper in Menkes kinky hair disease
-
Kollros PR, Dick RD, Brewer GJ: Correction of cerebrospinal fluid copper in Menkes kinky hair disease. Pediatr Neurol 7, 1991.
-
Pediatr Neurol
, vol.7
, pp. 1991
-
-
Kollros, P.R.1
Dick, R.D.2
Brewer, G.J.3
-
81
-
-
0027203969
-
Clinical and biochemical consequences of copper-histidine therapy in Menkes disease
-
Kreuder J, Otten A, Fuder H, Turner Z, Tønnesen T, Horn N, Dralle D: Clinical and biochemical consequences of copper-histidine therapy in Menkes disease. Eur J Pediatr 152:828-832, 1993.
-
(1993)
Eur J Pediatr
, vol.152
, pp. 828-832
-
-
Kreuder, J.1
Otten, A.2
Fuder, H.3
Turner, Z.4
Tønnesen, T.5
Horn, N.6
Dralle, D.7
-
83
-
-
0026631625
-
Wilson Disease: Current status
-
Yarze JC, Martin P, Muñoz SJ, Friedman LS: Wilson Disease: Current status. Am J Med 92:643-654, 1992.
-
(1992)
Am J Med
, vol.92
, pp. 643-654
-
-
Yarze, J.C.1
Martin, P.2
Muñoz, S.J.3
Friedman, L.S.4
-
84
-
-
0342372868
-
Assignment of the gene for Wilson disease to chromosome 13
-
Frydman M: Assignment of the gene for Wilson disease to chromosome 13. Proc Natl Acad Sci USA 82:1819-1821, 1985.
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 1819-1821
-
-
Frydman, M.1
-
85
-
-
0023629855
-
Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13
-
Bowcock AM, Farrer LA, Cavalli-Sforza LL, Hebert JM, Kidd KK, Frydman M, Bonné-Tamir B: Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13. Am J Hum Genet 41:27-35, 1987.
-
(1987)
Am J Hum Genet
, vol.41
, pp. 27-35
-
-
Bowcock, A.M.1
Farrer, L.A.2
Cavalli-Sforza, L.L.3
Hebert, J.M.4
Kidd, K.K.5
Frydman, M.6
Bonné-Tamir, B.7
-
86
-
-
0023734612
-
Eight closely linked loci place the Wilson disease locus within 13q14-q21
-
Bowcock AM: Eight closely linked loci place the Wilson disease locus within 13q14-q21. Am J Hum Genet 43:664-674, 1988.
-
(1988)
Am J Hum Genet
, vol.43
, pp. 664-674
-
-
Bowcock, A.M.1
-
87
-
-
0025952952
-
Predictive testing for Wilson's disease using tightly linked and flanking DNA markers
-
Farrer LA, Bowcock AM, Hebert JM, Bonné-Tamir B, Sternlieb I, Giagheddu M, St. George-Hyslop P, Frydman M, Lössner J, Demelia L, Carcassi C, Lee R, Beker R, Bale AE, Donis-Keller H, Scheinberg IH, Cavalli-Sforza LL: Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology 41:992-999, 1991.
-
(1991)
Neurology
, vol.41
, pp. 992-999
-
-
Farrer, L.A.1
Bowcock, A.M.2
Hebert, J.M.3
Bonné-Tamir, B.4
Sternlieb, I.5
Giagheddu, M.6
St. George-Hyslop, P.7
Frydman, M.8
Lössner, J.9
Demelia, L.10
Carcassi, C.11
Lee, R.12
Beker, R.13
Bale, A.E.14
Donis-Keller, H.15
Scheinberg, I.H.16
Cavalli-Sforza, L.L.17
-
88
-
-
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: The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5:327-337, 1993.
-
(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
-
89
-
-
0027431996
-
Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
-
Yamaguchi Y, Heiny ME, Gitlin JD: Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Comm 197:271-277, 1993.
-
(1993)
Biochem Biophys Res Comm
, vol.197
, pp. 271-277
-
-
Yamaguchi, Y.1
Heiny, M.E.2
Gitlin, J.D.3
-
90
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, Devoto M, Peppercorn J, Bush AI, Sternlieb I, Pirastu M, Gusella JF, Evgrafov O, Penchaszadeh GK, Honig B, Edelman IS, Soares MB, Scheinberg IH, Gilliam TC: The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344-357, 1993.
-
(1993)
Nat Genet
, vol.5
, pp. 344-357
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
Pellequer, J.L.4
Wasco, W.5
Ross, B.6
Romano, D.M.7
Parano, E.8
Pavone, L.9
Brzustowicz, L.M.10
Devoto, M.11
Peppercorn, J.12
Bush, A.I.13
Sternlieb, I.14
Pirastu, M.15
Gusella, J.F.16
Evgrafov, O.17
Penchaszadeh, G.K.18
Honig, B.19
Edelman, I.S.20
Soares, M.B.21
Scheinberg, I.H.22
Gilliam, T.C.23
more..
-
91
-
-
0028242939
-
Wilson disease and Menkes disease: New handles on heavy-metal transport
-
Bull PC, Cox DW: Wilson disease and Menkes disease: New handles on heavy-metal transport. TIG 10:246-252, 1994.
-
(1994)
TIG
, vol.10
, pp. 246-252
-
-
Bull, P.C.1
Cox, D.W.2
-
92
-
-
0028923703
-
Genes of the copper pathway
-
Cox DW: Genes of the copper pathway. Am J Hum Genet 56:828-834, 1995.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 828-834
-
-
Cox, D.W.1
-
93
-
-
0028040512
-
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions
-
Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC: Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions. Hum Molec Genet 3:1647-1656, 1994.
-
(1994)
Hum Molec Genet
, vol.3
, pp. 1647-1656
-
-
Petrukhin, K.1
Lutsenko, S.2
Chernov, I.3
Ross, B.M.4
Kaplan, J.H.5
Gilliam, T.C.6
-
94
-
-
0028869945
-
The Wilson disease gene: Spectrum of mutations and their consequences
-
Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW: The Wilson disease gene: Spectrum of mutations and their consequences. Nat Genet 9:210-217, 1995.
-
(1995)
Nat Genet
, vol.9
, pp. 210-217
-
-
Thomas, G.R.1
Forbes, J.R.2
Roberts, E.A.3
Walshe, J.M.4
Cox, D.W.5
-
95
-
-
0025892297
-
Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis
-
Li Y, Togashi Y, Sato S, Emoto T, Kang J-H, Takeichi N, Kobayashi H, Kojima Y, Une Y, Uchino J: Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis. J Clin Invest 87:1858, 1991.
-
(1991)
J Clin Invest
, vol.87
, pp. 1858
-
-
Li, Y.1
Togashi, Y.2
Sato, S.3
Emoto, T.4
Kang, J.-H.5
Takeichi, N.6
Kobayashi, H.7
Kojima, Y.8
Une, Y.9
Uchino, J.10
-
96
-
-
0028001088
-
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene
-
Wu J, Forbes JR, Chen HS, Cox DW: The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nat Genet 7:541-545, 1994.
-
(1994)
Nat Genet
, vol.7
, pp. 541-545
-
-
Wu, J.1
Forbes, J.R.2
Chen, H.S.3
Cox, D.W.4
-
97
-
-
0028952244
-
Wilson disease in Iceland: A clinical and genetic study
-
Thomas GR, Jensson O, Gudmundsson G, Thorsteinsson L, Cox DW: Wilson disease in Iceland: A clinical and genetic study. Am J Hum Genet 56:1140-1146, 1995.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1140-1146
-
-
Thomas, G.R.1
Jensson, O.2
Gudmundsson, G.3
Thorsteinsson, L.4
Cox, D.W.5
-
98
-
-
0029002149
-
Haplotypes and mutations in Wilson disease
-
Thomas GR, Roberts EA, Walshe JM, Cox DW: Haplotypes and mutations in Wilson disease. Am J Hum Genet 56:1315-1319, 1995.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1315-1319
-
-
Thomas, G.R.1
Roberts, E.A.2
Walshe, J.M.3
Cox, D.W.4
-
99
-
-
0029068234
-
H714Q mutation in Wilson disease is associated with late, neurological presentation
-
Houwen RHJ, Juyn J, Hoogenraad TU, Ploos van Amstel JK, Berger R: H714Q mutation in Wilson disease is associated with late, neurological presentation. J Med Genet 32:480-482, 1995.
-
(1995)
J Med Genet
, vol.32
, pp. 480-482
-
-
Houwen, R.H.J.1
Juyn, J.2
Hoogenraad, T.U.3
Ploos Van Amstel, J.K.4
Berger, R.5
-
100
-
-
0028820678
-
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
-
Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deliana M, Lovicu M, Olla N, Sole G, De Virgiliis S, Lilliu F, Farci AMG, Nurchi A, Giacchino R, Barabino A, Marazzi M, Zancan L, Greggio NA, Marcellini M, Solinas A, Deplano A, Barbera C, Devoto M, Ozsoylu S, Kocak N, Akar N, Karayalcin S, Mokini V, Cullufi P, Balestrieri A, Cao A, Pirastu M: Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet 57:1318-1324, 1995.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1318-1324
-
-
Figus, A.1
Angius, A.2
Loudianos, G.3
Bertini, C.4
Dessi, V.5
Loi, A.6
Deliana, M.7
Lovicu, M.8
Olla, N.9
Sole, G.10
De Virgiliis, S.11
Lilliu, F.12
Farci, A.M.G.13
Nurchi, A.14
Giacchino, R.15
Barabino, A.16
Marazzi, M.17
Zancan, L.18
Greggio, N.A.19
Marcellini, M.20
Solinas, A.21
Deplano, A.22
Barbera, C.23
Devoto, M.24
Ozsoylu, S.25
Kocak, N.26
Akar, N.27
Karayalcin, S.28
Mokini, V.29
Cullufi, P.30
Balestrieri, A.31
Cao, A.32
Pirastu, M.33
more..
-
101
-
-
0030012456
-
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease
-
Chuang L-M, Wu H-P, Jang M-H, Wang T-R, Sue W-C, Lin BJ, Cox DW, Tai T-W: High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Genet 33:521-523, 1996.
-
(1996)
J Med Genet
, vol.33
, pp. 521-523
-
-
Chuang, L.-M.1
Wu, H.-P.2
Jang, M.-H.3
Wang, T.-R.4
Sue, W.-C.5
Lin, B.J.6
Cox, D.W.7
Tai, T.-W.8
|