-
1
-
-
12644303828
-
-
Baltimore, Johns Hopkins University Press
-
McKusick VA: Mendelian Inheritance in Man. Catalog of Human Genes and Genetic Disorders, ed 11. Baltimore, Johns Hopkins University Press, 1994, vol 2, pp 1711-1712.
-
(1994)
Mendelian Inheritance in Man. Catalog of Human Genes and Genetic Disorders, Ed 11
, vol.2
, pp. 1711-1712
-
-
McKusick, V.A.1
-
2
-
-
0015831045
-
A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies
-
Cohen MM Jr, Hall BD, Smith DW, Graham CB, Lampert KJ: A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr 1973;83:280-284.
-
(1973)
J Pediatr
, vol.83
, pp. 280-284
-
-
Cohen Jr., M.M.1
Hall, B.D.2
Smith, D.W.3
Graham, C.B.4
Lampert, K.J.5
-
3
-
-
0017882399
-
Confirmation of the Cohen syndrome
-
Carey JC, Hall BD: Confirmation of the Cohen syndrome. J Pediatr 1978;93:239-244.
-
(1978)
J Pediatr
, vol.93
, pp. 239-244
-
-
Carey, J.C.1
Hall, B.D.2
-
4
-
-
0021360153
-
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity
-
Norio R, Raitta C, Lindahl E: Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. Clin Genet 1984;25:1-14.
-
(1984)
Clin Genet
, vol.25
, pp. 1-14
-
-
Norio, R.1
Raitta, C.2
Lindahl, E.3
-
7
-
-
0025183027
-
The Cohen syndrome: Does mottled retina separate a Finnish and a Jewish type?
-
Kondo I, Nagataki S, Miyagi N: The Cohen syndrome: Does mottled retina separate a Finnish and a Jewish type? Am J Med Genet 1990; 37:109-113.
-
(1990)
Am J Med Genet
, vol.37
, pp. 109-113
-
-
Kondo, I.1
Nagataki, S.2
Miyagi, N.3
-
8
-
-
0026044859
-
Tapetoretinal degeneration in brothers with apparent Cohen syndrome: Nosology with Mirhosseini-Holmes-Walton syndrome
-
Steinlein O, Tariverdian G, Boll HU, Vogel F: Tapetoretinal degeneration in brothers with apparent Cohen syndrome: Nosology with Mirhosseini-Holmes-Walton syndrome. Am J Med Genet 1991;41:196-200.
-
(1991)
Am J Med Genet
, vol.41
, pp. 196-200
-
-
Steinlein, O.1
Tariverdian, G.2
Boll, H.U.3
Vogel, F.4
-
9
-
-
0028305381
-
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis
-
Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P, de la Chapelle A: Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet 1994;7:201-204.
-
(1994)
Nat Genet
, vol.7
, pp. 201-204
-
-
Tahvanainen, E.1
Norio, R.2
Karila, E.3
Ranta, S.4
Weissenbach, J.5
Sistonen, P.6
De La Chapelle, A.7
-
10
-
-
0026949420
-
Linkage disequilibrium mapping in isolated populations: Diastrophic dysplasia in Finland
-
Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E: Linkage disequilibrium mapping in isolated populations: Diastrophic dysplasia in Finland. Nat Genet 1992; 2:204-211.
-
(1992)
Nat Genet
, vol.2
, pp. 204-211
-
-
Hästbacka, J.1
De La Chapelle, A.2
Kaitila, I.3
Sistonen, P.4
Weaver, A.5
Lander, E.6
-
11
-
-
0004136246
-
-
Cold Spring Harbor, Cold Spring Harbor Laboratory Press
-
Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning, a Laboratory Manual. Cold Spring Harbor, Cold Spring Harbor Laboratory Press, 1989.
-
(1989)
Molecular Cloning, a Laboratory Manual
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
12
-
-
0026446099
-
A second-generation linkage map of the human genome
-
Weissenbach J, Gyapay G, Dib C, Vignal A, Morisette J, Millasseau P, Vaysseix G, Lathrop M: A second-generation linkage map of the human genome. Nature 1992;359:794-801.
-
(1992)
Nature
, vol.359
, pp. 794-801
-
-
Weissenbach, J.1
Gyapay, G.2
Dib, C.3
Vignal, A.4
Morisette, J.5
Millasseau, P.6
Vaysseix, G.7
Lathrop, M.8
-
13
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J: The 1993-94 Généthon human genetic linkage map. Nat Genet 1994;7:246-339.
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
Bernardi, G.8
Lathrop, M.9
Weissenbach, J.10
-
14
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
15
-
-
0024582686
-
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
-
Weber JL, May PE: Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 388-396
-
-
Weber, J.L.1
May, P.E.2
-
16
-
-
0025835296
-
Fast and sensitive silver staining of DNA in polyacrylamide gels
-
Bassam BJ, Caetano-Anolles G, Gresshoff PM: Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991;196: 80-83.
-
(1991)
Anal Biochem
, vol.196
, pp. 80-83
-
-
Bassam, B.J.1
Caetano-Anolles, G.2
Gresshoff, P.M.3
-
17
-
-
0027236091
-
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: Linkage disequilibrium allows high resolution mapping
-
Lehesjoki AE, Koskiniemi M, Norio R, Tirrito S, Sistonen P, Lander E, de la Chapelle A: Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: Linkage disequilibrium allows high resolution mapping. Hum Mol Genet 1993;2:1229-1234.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1229-1234
-
-
Lehesjoki, A.E.1
Koskiniemi, M.2
Norio, R.3
Tirrito, S.4
Sistonen, P.5
Lander, E.6
De La Chapelle, A.7
-
18
-
-
0027507885
-
Disease gene mapping in isolated human populations: The example of Finland
-
de la Chapelle A: Disease gene mapping in isolated human populations: The example of Finland. J Med Genet 1993;30:857-865.
-
(1993)
J Med Genet
, vol.30
, pp. 857-865
-
-
De La Chapelle, A.1
-
19
-
-
0028968329
-
A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
-
Terwilliger JD: A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 1995;56:777-787.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 777-787
-
-
Terwilliger, J.D.1
-
20
-
-
0028894185
-
Linkage disequilibrium as a genemapping tool
-
Jorde LB: Linkage disequilibrium as a genemapping tool. Am J Hum Genet 1995;56:11-14.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 11-14
-
-
Jorde, L.B.1
-
21
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter Positional cloning by finestructure linkage disequilibrium mapping
-
Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A, Coloma A, Lovett M, Buckler A, Kaitila I, Lander ES: The diastrophic dysplasia gene encodes a novel sulfate transporter Positional cloning by finestructure linkage disequilibrium mapping. Cell 1994;78:1073-1087.
-
(1994)
Cell
, vol.78
, pp. 1073-1087
-
-
Hästbacka, J.1
De La Chapelle, A.2
Mahtani, M.M.3
Clines, G.4
Reeve-Daly, M.P.5
Daly, M.6
Hamilton, B.A.7
Kusumi, K.8
Trivedi, B.9
Weaver, A.10
Coloma, A.11
Lovett, M.12
Buckler, A.13
Kaitila, I.14
Lander, E.S.15
-
22
-
-
0029994692
-
Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q
-
Virtaneva K, Miao J, Träskelin AL, Stone N, Warrington JA, Weissenbach J, Myers KM, Cox DR, Sistonen P, de la Chapelle A, Lehesjoki AE: Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q. Am J Hum Genet 1996;58:1247-1253.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1247-1253
-
-
Virtaneva, K.1
Miao, J.2
Träskelin, A.L.3
Stone, N.4
Warrington, J.A.5
Weissenbach, J.6
Myers, K.M.7
Cox, D.R.8
Sistonen, P.9
De La Chapelle, A.10
Lehesjoki, A.E.11
-
23
-
-
13344269666
-
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
-
Pennacchio La, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM: Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996;271:1731-1734.
-
(1996)
Science
, vol.271
, pp. 1731-1734
-
-
Pennacchio, La.1
Lehesjoki, A.E.2
Stone, N.E.3
Willour, V.L.4
Virtaneva, K.5
Miao, J.6
D'Amato, E.7
Ramirez, L.8
Faham, M.9
Koskiniemi, M.10
Warrington, J.A.11
Norio, R.12
De La Chapelle, A.13
Cox, D.R.14
Myers, R.M.15
-
24
-
-
0028940062
-
Batten disease gene, CLN3: Linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes
-
Mitchison HM, O'Rawe AM, Taschner PE, Sandkuijl LA, Santavuori P, de Vos N, Breuning MH, Mole SE, Gardiner RM, Järvelä IE: Batten disease gene, CLN3: Linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes. Am J Hum Genet 1995;56:654-662.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 654-662
-
-
Mitchison, H.M.1
O'Rawe, A.M.2
Taschner, P.E.3
Sandkuijl, L.A.4
Santavuori, P.5
De Vos, N.6
Breuning, M.H.7
Mole, S.E.8
Gardiner, R.M.9
Järvelä, I.E.10
-
25
-
-
0029147298
-
Isolation of a novel gene underlying Batten disease, CLN3
-
The International Batten Disease Consortium: Isolation of a novel gene underlying Batten disease, CLN3. Cell 1995;82:949-957.
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
-
26
-
-
0002739198
-
Diseases of Finland and Scandinavia
-
Rotschild H (ed): New York, Academic Press
-
Norio R: Diseases of Finland and Scandinavia; in Rotschild H (ed): Biocultural Aspects of Disease. New York, Academic Press, 1981, pp 359-415.
-
(1981)
Biocultural Aspects of Disease
, pp. 359-415
-
-
Norio, R.1
-
27
-
-
17744419667
-
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
-
Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A, Lehesjoki AE: Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 1997;15:393-396.
-
(1997)
Nat Genet
, vol.15
, pp. 393-396
-
-
Virtaneva, K.1
D'Amato, E.2
Miao, J.3
Koskiniemi, M.4
Norio, R.5
Avanzini, G.6
Franceschetti, S.7
Michelucci, R.8
Tassinari, C.A.9
Omer, S.10
Pennacchio, L.A.11
Myers, R.M.12
Dieguez-Lucena, J.L.13
Krahe, R.14
De La Chapelle, A.15
Lehesjoki, A.E.16
-
28
-
-
0026089364
-
Aspartyglglucosaminuria: CDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease
-
Ikonen E, Baumann M, Grön K, Syvänen AC, Enomaa N, Halila R, Aula P, Peltonen L: Aspartyglglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J 1991; 10:51-58.
-
(1991)
EMBO J
, vol.10
, pp. 51-58
-
-
Ikonen, E.1
Baumann, M.2
Grön, K.3
Syvänen, A.C.4
Enomaa, N.5
Halila, R.6
Aula, P.7
Peltonen, L.8
-
29
-
-
0029021580
-
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene
-
Isoniemi A, Hietala M, Aula P, Jalanko A, Peltonen L: Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene. Hum Mutat 1985;5:318-326.
-
(1985)
Hum Mutat
, vol.5
, pp. 318-326
-
-
Isoniemi, A.1
Hietala, M.2
Aula, P.3
Jalanko, A.4
Peltonen, L.5
-
30
-
-
0026742962
-
Molecular cloning of the major cell surface heparan sulfate proteoglycan from rat liver
-
Pierse A, Lyon M, Hampson IN, Cowling GJ, Gallagher JT: Molecular cloning of the major cell surface heparan sulfate proteoglycan from rat liver. J Biol Chem 1992;267:3894-3900.
-
(1992)
J Biol Chem
, vol.267
, pp. 3894-3900
-
-
Pierse, A.1
Lyon, M.2
Hampson, I.N.3
Cowling, G.J.4
Gallagher, J.T.5
-
31
-
-
0024525039
-
Characterization of a heparan sulfate proteoglycan that copurifies with the neural cell adhesion molecule
-
Cole GJ, Burg M: Characterization of a heparan sulfate proteoglycan that copurifies with the neural cell adhesion molecule. Exp Cell Res 1989;182:44-60.
-
(1989)
Exp Cell Res
, vol.182
, pp. 44-60
-
-
Cole, G.J.1
Burg, M.2
-
32
-
-
0022556791
-
Structure and function of heparan sulphate proteoglycans
-
Gallagher JT, Lyon M, Steward WP: Structure and function of heparan sulphate proteoglycans. Biochem J 1986;236:313-325.
-
(1986)
Biochem J
, vol.236
, pp. 313-325
-
-
Gallagher, J.T.1
Lyon, M.2
Steward, W.P.3
-
33
-
-
0028118405
-
Cerebroglycan: An integral membrane heparan sulphate proteoglycan that is unique to the developing nervous system and expressed specifically during neuronal differentiation
-
Stipp CS, Litwack ED, Lander AD: Cerebroglycan: An integral membrane heparan sulphate proteoglycan that is unique to the developing nervous system and expressed specifically during neuronal differentiation. J Cell Biol 1994; 124:149-160.
-
(1994)
J Cell Biol
, vol.124
, pp. 149-160
-
-
Stipp, C.S.1
Litwack, E.D.2
Lander, A.D.3
-
34
-
-
10244230901
-
A gene map of the human genome
-
Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, Rodriguez-Tomé P, Aggarwal A, Bajorek E, Bentolila S, Birren BB, Butler A, Castle AB, Chiannilkulchai N, Chu A, Clee C, Cowles S, Day PJR, Dibling T, East C, Drouot N, Dunham I, Duprat S, Edwards C, Fan JB, Fang N, Fizames C, Garrett C, Green L, Hadley D, Harris M, Harrison P, Brady S, Hicks A, Holoway E, Hui L, Hussain S, Louis-Dit-Sully C, Ma J, MacGilvery A, Mader C, Maratukulam A, Matise TC, McKusick KB, Morissette J, Mungall A, Muselet D, Nusbaum HC, Page DC, Peck A, Perkins S, Piercy M, Qin F, Quackenbush J, Ranby S, Reif T, Rozen S, Sanders C, She X, Silva J, Slonim DK, Soderlund C, Sun WL, Tabar P, Thangarajah T, Vega-Czarny N, Vollrath D, Voyticky S, Wilmer T, Wu X, Adams MD, Auffray C, Walter NAR, Brandon R, Dehejia A, Goodfellow PN, Houlgatte R, Hudson JR Jr, Ide SE, Iorio KR, Lee WY, Seki N, Nagase T, Ishikawa K, Nomura N, Phillips C, Polymeropoulos MH, Sandusky M, Schmitt K, Berry R, Swanson K, Torres R, Venter JC, Sikela JM, Beckmann JS, Weissenbach J, Myers RM, Cox DR, James MR, Bentley D, Deloukas P, Lander ES, Hudson TJ: A gene map of the human genome. Science 1996;274:540-546.
-
(1996)
Science
, vol.274
, pp. 540-546
-
-
Schuler, G.D.1
Boguski, M.S.2
Stewart, E.A.3
Stein, L.D.4
Gyapay, G.5
Rice, K.6
White, R.E.7
Rodriguez-Tomé, P.8
Aggarwal, A.9
Bajorek, E.10
Bentolila, S.11
Birren, B.B.12
Butler, A.13
Castle, A.B.14
Chiannilkulchai, N.15
Chu, A.16
Clee, C.17
Cowles, S.18
Day, P.J.R.19
Dibling, T.20
East, C.21
Drouot, N.22
Dunham, I.23
Duprat, S.24
Edwards, C.25
Fan, J.B.26
Fang, N.27
Fizames, C.28
Garrett, C.29
Green, L.30
Hadley, D.31
Harris, M.32
Harrison, P.33
Brady, S.34
Hicks, A.35
Holoway, E.36
Hui, L.37
Hussain, S.38
Louis-Dit-Sully, C.39
Ma, J.40
MacGilvery, A.41
Mader, C.42
Maratukulam, A.43
Matise, T.C.44
McKusick, K.B.45
Morissette, J.46
Mungall, A.47
Muselet, D.48
Nusbaum, H.C.49
Page, D.C.50
Peck, A.51
Perkins, S.52
Piercy, M.53
Qin, F.54
Quackenbush, J.55
Ranby, S.56
Reif, T.57
Rozen, S.58
Sanders, C.59
She, X.60
Silva, J.61
Slonim, D.K.62
Soderlund, C.63
Sun, W.L.64
Tabar, P.65
Thangarajah, T.66
Vega-Czarny, N.67
Vollrath, D.68
Voyticky, S.69
Wilmer, T.70
Wu, X.71
Adams, M.D.72
Auffray, C.73
Walter, N.A.R.74
Brandon, R.75
Dehejia, A.76
Goodfellow, P.N.77
Houlgatte, R.78
Hudson Jr., J.R.79
Ide, S.E.80
Iorio, K.R.81
Lee, W.Y.82
Seki, N.83
Nagase, T.84
Ishikawa, K.85
Nomura, N.86
Phillips, C.87
Polymeropoulos, M.H.88
Sandusky, M.89
Schmitt, K.90
Berry, R.91
Swanson, K.92
Torres, R.93
Venter, J.C.94
Sikela, J.M.95
Beckmann, J.S.96
Weissenbach, J.97
Myers, R.M.98
Cox, D.R.99
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