-
1
-
-
0036338150
-
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
-
Abecasis GR, Cherny SS, Cookson WO, Cardon LR. 2002. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Gene 30:97-101.
-
(2002)
Nat Gene
, vol.30
, pp. 97-101
-
-
Abecasis, G.R.1
Cherny, S.S.2
Cookson, W.O.3
Cardon, L.R.4
-
2
-
-
0003401166
-
-
Washington, DC: American Psychiatric Association
-
American Psychiatric Association. 1994. Diagnostic and statistical manual. 4th edition. Washington, DC: American Psychiatric Association.
-
(1994)
Diagnostic and Statistical Manual. 4th Edition
-
-
-
3
-
-
0028070381
-
Limits of resolution of genetic linkage studies, implications for the positional cloning of human disease genes
-
Boehnke M. 1994. Limits of resolution of genetic linkage studies, implications for the positional cloning of human disease genes. Am J Hum Gene 55:379-390.
-
(1994)
Am J Hum Gene
, vol.55
, pp. 379-390
-
-
Boehnke, M.1
-
4
-
-
0023485271
-
Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect
-
Brink PA, Steyn LT, Coetzee GA, Van der Westhuyzen DR. 1987. Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect. Hum Genet 77:32-35.
-
(1987)
Hum Genet
, vol.77
, pp. 32-35
-
-
Brink, P.A.1
Steyn, L.T.2
Coetzee, G.A.3
Van Der Westhuyzen, D.R.4
-
6
-
-
0027421158
-
South African founder mutations in the low-density lipoprotein receptor gene causing familiar hypercholeser olemia in the Dutch population
-
Defesche JC, van Diermen DE, Lansberg PJ, Lamping RJ, Reymer PW, Hayden MR, Kastelein JJ. 1993. South African founder mutations in the low-density lipoprotein receptor gene causing familiar hypercholeser olemia in the Dutch population. Hum Genet 92:567-570.
-
(1993)
Hum Genet
, vol.92
, pp. 567-570
-
-
Defesche, J.C.1
Van Diermen, D.E.2
Lansberg, P.J.3
Lamping, R.J.4
Reymer, P.W.5
Hayden, M.R.6
Kastelein, J.J.7
-
7
-
-
0029952928
-
Origin and migration of an Afrikaner founder mutation FHAfrikaner-2. V408M. Causing familial hypercholesterolemia
-
Defesche JC, Van Diermen DE, Hayden MR, Kastelein JP. 1996. Origin and migration of an Afrikaner founder mutation FHAfrikaner-2. V408M. causing familial hypercholesterolemia. Gene Geogr 10:1-10.
-
(1996)
Gene Geogr
, vol.10
, pp. 1-10
-
-
Defesche, J.C.1
Van Diermen, D.E.2
Hayden, M.R.3
Kastelein, J.P.4
-
8
-
-
0037043050
-
Genomewide scan for linkage to schizophrenia in a Spanish-origin cohort from Costa Rica
-
DeLisi LE, Mesen A, Rodriguez C, Bertheau A, LaPrade B, Llach M, Riondet S, Razi K, Relja M, Byerley W, Sherrington R. 2002. Genomewide scan for linkage to schizophrenia in a Spanish-origin cohort from Costa Rica. Am J Med Genet 114:497-508.
-
(2002)
Am J Med Genet
, vol.114
, pp. 497-508
-
-
DeLisi, L.E.1
Mesen, A.2
Rodriguez, C.3
Bertheau, A.4
LaPrade, B.5
Llach, M.6
Riondet, S.7
Razi, K.8
Relja, M.9
Byerley, W.10
Sherrington, R.11
-
9
-
-
0036366996
-
Genome-wide multipoint linkage analyses of multiplex schizophrenia pedigrees from the oceanic nation of Palau
-
Devlin B, Bacanu SA, Roeder K, Reimherr F, Wender P, Galke B, Novasad D, Chu A, Cveno KT, Tiobek S, Otto C, Byerley W. 2002. Genome-wide multipoint linkage analyses of multiplex schizophrenia pedigrees from the oceanic nation of Palau. Mol Psychiatry 7:689-694.
-
(2002)
Mol Psychiatry
, vol.7
, pp. 689-694
-
-
Devlin, B.1
Bacanu, S.A.2
Roeder, K.3
Reimherr, F.4
Wender, P.5
Galke, B.6
Novasad, D.7
Chu, A.8
Cveno, K.T.9
Tiobek, S.10
Otto, C.11
Byerley, W.12
-
10
-
-
0029832024
-
Founder effect and the prevalence of myotonic dystrophy in South Africans, Molecular studies
-
Goldman A, Krause A, Ramsay M, Jenkins T. 1996. Founder effect and the prevalence of myotonic dystrophy in South Africans, Molecular studies. Am J Hum Genet 59:445-452.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 445-452
-
-
Goldman, A.1
Krause, A.2
Ramsay, M.3
Jenkins, T.4
-
11
-
-
0031971162
-
Linkage disequilibrium analysis in a recently founded population, evaluation of the variegate porphyria founder in South African Afrikaners
-
Groenewald JZ, Liebenberg J, Groenewald IM, Warnich L. 1998. Linkage disequilibrium analysis in a recently founded population, evaluation of the variegate porphyria founder in South African Afrikaners. Am J Hum Genet 62:1254-1258.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1254-1258
-
-
Groenewald, J.Z.1
Liebenberg, J.2
Groenewald, I.M.3
Warnich, L.4
-
12
-
-
0036079229
-
Extended intermarker linkage disequilibrium in the Afrikaners
-
Hall D, Wijsman EM, Roos JL, Gogos JA, Karayiorgou M. 2002. Extended intermarker linkage disequilibrium in the Afrikaners. Genome Res 12:956-961.
-
(2002)
Genome Res
, vol.12
, pp. 956-961
-
-
Hall, D.1
Wijsman, E.M.2
Roos, J.L.3
Gogos, J.A.4
Karayiorgou, M.5
-
13
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter, positional cloning by fine structure linkage disequilibrium mapping
-
Hastbacka 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. 1994. The diastrophic dysplasia gene encodes a novel sulfate transporter, positional cloning by fine structure linkage disequilibrium mapping. Cell 78:1073-1087.
-
(1994)
Cell
, vol.78
, pp. 1073-1087
-
-
Hastbacka, 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
-
14
-
-
0018942442
-
The prevalence of Huntington's chorea in South Africa
-
Hayden MR, MacGregor JM, Beighton PH. 1980a. The prevalence of Huntington's chorea in South Africa. S Afr Med J 58:193-196.
-
(1980)
S Afr Med J
, vol.58
, pp. 193-196
-
-
Hayden, M.R.1
MacGregor, J.M.2
Beighton, P.H.3
-
15
-
-
0018956884
-
The origin of Huntington's chorea in the Afrikaner population of South Africa
-
Hayden MR, Hopkins HC, Macrea M, Beighton PH. 1980b. The origin of Huntington's chorea in the Afrikaner population of South Africa. S Afr Med J 58:197-200.
-
(1980)
S Afr Med J
, vol.58
, pp. 197-200
-
-
Hayden, M.R.1
Hopkins, H.C.2
Macrea, M.3
Beighton, P.H.4
-
16
-
-
0033364825
-
A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci
-
Hovatta I, Varilo T, Suvisaari J, Terwilliger JD, Ollikainen V, Arajarvi R, Juvonen H, Kokko-Sahin ML, Vaisanen L, Mannila H, Lonnqvist J, Peltonen L. 1999. A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci. Am J Med Genet 65:1114-1124.
-
(1999)
Am J Med Genet
, vol.65
, pp. 1114-1124
-
-
Hovatta, I.1
Varilo, T.2
Suvisaari, J.3
Terwilliger, J.D.4
Ollikainen, V.5
Arajarvi, R.6
Juvonen, H.7
Kokko-Sahin, M.L.8
Vaisanen, L.9
Mannila, H.10
Lonnqvist, J.11
Peltonen, L.12
-
17
-
-
16044365767
-
Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
-
Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RHH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. 1996. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet 14:214-217.
-
(1996)
Nat Genet
, vol.14
, pp. 214-217
-
-
Kalaydjieva, L.1
Hallmayer, J.2
Chandler, D.3
Savov, A.4
Nikolova, A.5
Angelicheva, D.6
King, R.H.H.7
Ishpekova, B.8
Honeyman, K.9
Calafell, F.10
Shmarov, A.11
Petrova, J.12
Turnev, I.13
Hristova, A.14
Moskov, M.15
Stancheva, S.16
Petkova, I.17
Bittles, A.H.18
Georgieva, V.19
Middleton, L.20
Thomas, P.K.21
more..
-
18
-
-
0034100029
-
Clinical features of schizophrenia and linkage to chromosomes 5q, 6p, 8p, and 10p in the Irish Study of High-Density Schizophrenia Families
-
Kendler KS, Myers JM, O'Neill FA, Martin R, Murphy B, MacLean CJ, Walsh D, Straub RE. 2000. Clinical features of schizophrenia and linkage to chromosomes 5q, 6p, 8p, and 10p in the Irish Study of High-Density Schizophrenia Families. Am J Psychiatry 157:402-408.
-
(2000)
Am J Psychiatry
, vol.157
, pp. 402-408
-
-
Kendler, K.S.1
Myers, J.M.2
O'Neill, F.A.3
Martin, R.4
Murphy, B.5
MacLean, C.J.6
Walsh, D.7
Straub, R.E.8
-
19
-
-
0024446716
-
Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners
-
Leitersdorf E, Van der Westhuyzen DR, Coetzee GA, Hobbs HH. 1989. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. J Clin Invest 84:954-961.
-
(1989)
J Clin Invest
, vol.84
, pp. 954-961
-
-
Leitersdorf, E.1
Van Der Westhuyzen, D.R.2
Coetzee, G.A.3
Hobbs, H.H.4
-
20
-
-
0028134880
-
Diagnostic interview for genetic studies, rationale, unique features, and training
-
Nurnberger JI, Blehar MC, Kaufmann CA, York-Cooler C, Simpson SG, Harkavy-Friedman J, Severe JB, Malaspina D, Reich T, NIMH Genetics Initiative. 1994. Diagnostic interview for genetic studies, rationale, unique features, and training. Arch Gen Psychiatry 51:949.
-
(1994)
Arch Gen Psychiatry
, vol.51
, pp. 949
-
-
Nurnberger, J.I.1
Blehar, M.C.2
Kaufmann, C.A.3
York-Cooler, C.4
Simpson, S.G.5
Harkavy-Friedman, J.6
Severe, J.B.7
Malaspina, D.8
Reich, T.9
-
21
-
-
0029925102
-
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
-
Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC. 1996. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 5:525-531.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 525-531
-
-
Nystuen, A.1
Benke, P.J.2
Merren, J.3
Stone, E.M.4
Sheffield, V.C.5
-
22
-
-
18244400458
-
Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q
-
Paunio T, Ekelund J, Varilo T, Parker A, Hovatta I, Turunen JA, Rinard K, Foti A, Terwilliger JD, Juvonen H, Suvisaari J, Arajarvi R, Suokas J, Partonen T, Lonnqvist J, Meyer J, Peltonen L. 2001. Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. Hum Mol Genet 10:3037-3048.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 3037-3048
-
-
Paunio, T.1
Ekelund, J.2
Varilo, T.3
Parker, A.4
Hovatta, I.5
Turunen, J.A.6
Rinard, K.7
Foti, A.8
Terwilliger, J.D.9
Juvonen, H.10
Suvisaari, J.11
Arajarvi, R.12
Suokas, J.13
Partonen, T.14
Lonnqvist, J.15
Meyer, J.16
Peltonen, L.17
-
23
-
-
0024602536
-
Estimating the power of a proposed linkage study for a complex genetic trait
-
Ploughman LM, Boehnke M. 1989. Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet 44:543-551.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 543-551
-
-
Ploughman, L.M.1
Boehnke, M.2
-
24
-
-
0028840709
-
Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3
-
Pronk JC, Gibson RA, Savoia A, Wijker M, Morgan NV, Melchionda S, Ford D, Temtamy S, Ortega JJ, Jansen S, Havenga C, Cohn RJ, de Ravel TJ, Roberts I, Westerveld A, Easton DF, Joenje H, Mathew CG, Arwert F. 1995. Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3. Nat Genet 11:338-340.
-
(1995)
Nat Genet
, vol.11
, pp. 338-340
-
-
Pronk, J.C.1
Gibson, R.A.2
Savoia, A.3
Wijker, M.4
Morgan, N.V.5
Melchionda, S.6
Ford, D.7
Temtamy, S.8
Ortega, J.J.9
Jansen, S.10
Havenga, C.11
Cohn, R.J.12
De Ravel, T.J.13
Roberts, I.14
Westerveld, A.15
Easton, D.F.16
Joenje, H.17
Mathew, C.G.18
Arwert, F.19
-
25
-
-
0033361932
-
Autosomal dominant 'Beukes' premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35
-
Roby P, Eyre S, Worthington J, Ramesar R, Cilliers H, Beighton P, Grant M, Wallis G. 1999. Autosomal dominant 'Beukes' premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35. Am J Hum Genet 64:904-908.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 904-908
-
-
Roby, P.1
Eyre, S.2
Worthington, J.3
Ramesar, R.4
Cilliers, H.5
Beighton, P.6
Grant, M.7
Wallis, G.8
-
26
-
-
0023231386
-
Fanconi anaemia, another disease of high prevalence in the Afrikaans population of South Africa
-
Rosendorff J, Bernstein R, Macdougall L, Jenkins T. 1987. Fanconi anaemia, another disease of high prevalence in the Afrikaans population of South Africa. Am J Med Genet 27:793-797.
-
(1987)
Am J Med Genet
, vol.27
, pp. 793-797
-
-
Rosendorff, J.1
Bernstein, R.2
Macdougall, L.3
Jenkins, T.4
-
27
-
-
0035946210
-
Early, non-psychotic deviant behavior in schizophrenia: A possible endophenotypic marker for genetic studies
-
Sobin C, Blundell ML, Conry A, Weiller F, Gavigan C, Haiman C, Karayiorgou M. 2001. Early, non-psychotic deviant behavior in schizophrenia: A possible endophenotypic marker for genetic studies. Psychiatry Res 101:101-113.
-
(2001)
Psychiatry Res
, vol.101
, pp. 101-113
-
-
Sobin, C.1
Blundell, M.L.2
Conry, A.3
Weiller, F.4
Gavigan, C.5
Haiman, C.6
Karayiorgou, M.7
-
28
-
-
19044365959
-
Gracile syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
-
Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L. 2002. Gracile syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 71:863-876.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 863-876
-
-
Visapaa, I.1
Fellman, V.2
Vesa, J.3
Dasvarma, A.4
Hutton, J.L.5
Kumar, V.6
Payne, G.S.7
Makarow, M.8
Van Coster, R.9
Taylor, R.W.10
Turnbull, D.M.11
Suomalainen, A.12
Peltonen, L.13
-
29
-
-
8944263312
-
Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South Africa
-
Warnich L, Kotze MJ, Groenewald IM, Groenewald JZ, van Brakel MG, van Heerden CJ, de Villiers JN, van de Ven WJ, Schoenmakers EF, Taketani S, Retief AE. 1996. Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South Africa. Hum Mol Genet 5:981-984.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 981-984
-
-
Warnich, L.1
Kotze, M.J.2
Groenewald, I.M.3
Groenewald, J.Z.4
Van Brakel, M.G.5
Van Heerden, C.J.6
De Villiers, J.N.7
Van De Ven, W.J.8
Schoenmakers, E.F.9
Taketani, S.10
Retief, A.E.11
-
30
-
-
12444277320
-
Genome-wide scan in a large complex pedigree with predominantly male schizophrenics from the island of Kosrae: Evidence for linkage to chromosome 2q
-
Wijsman EM, Rosenthal EA, Hall D, Blundell ML, Sobin C, Heath SC, Williams R, Brownstein MJ, Gogos JA, Karayiorgou M. 2003. Genome-wide scan in a large complex pedigree with predominantly male schizophrenics from the island of Kosrae: Evidence for linkage to chromosome 2q. Mol Psychiatry 8:695-705.
-
(2003)
Mol Psychiatry
, vol.8
, pp. 695-705
-
-
Wijsman, E.M.1
Rosenthal, E.A.2
Hall, D.3
Blundell, M.L.4
Sobin, C.5
Heath, S.C.6
Williams, R.7
Brownstein, M.J.8
Gogos, J.A.9
Karayiorgou, M.10
|