-
1
-
-
12144287883
-
Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1
-
Abecasis GR, Burt RA, Hall D, Bochum S, Doheny KF, Lundy SL, Torrington M, Roos JL, Gogos JA, Karayiorgou M. 2004. Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1. Am J Hum Genet 74:403-417.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 403-417
-
-
Abecasis, G.R.1
Burt, R.A.2
Hall, D.3
Bochum, S.4
Doheny, K.F.5
Lundy, S.L.6
Torrington, M.7
Roos, J.L.8
Gogos, J.A.9
Karayiorgou, M.10
-
2
-
-
18744373593
-
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
-
Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT. 2002. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet 32:614-621.
-
(2002)
Nat Genet
, vol.32
, pp. 614-621
-
-
Ang, S.O.1
Chen, H.2
Hirota, K.3
Gordeuk, V.R.4
Jelinek, J.5
Guan, Y.6
Liu, E.7
Sergueeva, A.I.8
Miasnikova, G.Y.9
Mole, D.10
Maxwell, P.H.11
Stockton, D.W.12
Semenza, G.L.13
Prchal, J.T.14
-
3
-
-
0034928726
-
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
-
Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. 2001. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 28:376-380.
-
(2001)
Nat Genet
, vol.28
, pp. 376-380
-
-
Anikster, Y.1
Huizing, M.2
White, J.3
Shevchenko, Y.O.4
Fitzpatrick, D.L.5
Touchman, J.W.6
Compton, J.G.7
Bale, S.J.8
Swank, R.T.9
Gahl, W.A.10
Toro, J.R.11
-
4
-
-
0033613991
-
Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy
-
Berend SA, Feldman GL, McCaskill C, Czarnecki P, Van Dyke DL, Shaffer LG. 1999. Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy. Am J Med Genet 82:275-281.
-
(1999)
Am J Med Genet
, vol.82
, pp. 275-281
-
-
Berend, S.A.1
Feldman, G.L.2
McCaskill, C.3
Czarnecki, P.4
Van Dyke, D.L.5
Shaffer, L.G.6
-
5
-
-
0016153298
-
Hétérozygotic et homozygotic pour un inversion péricentrique du 3 humain
-
Betz A, Turleau C, de Grouchy J. 1974. Hétérozygotic et homozygotic pour un inversion péricentrique du 3 humain. Ann Genet 17:77-80.
-
(1974)
Ann Genet
, vol.17
, pp. 77-80
-
-
Betz, A.1
Turleau, C.2
De Grouchy, J.3
-
6
-
-
0037133550
-
Embryonic stem cells and somatic cells differ in mutation frequency and type
-
Cervantes RB, Stringer JR, Shao C, Tischfield JA, Stambrook PJ. 2002. Embryonic stem cells and somatic cells differ in mutation frequency and type. Proc Natl Acad Sci USA 99:3586-3590.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 3586-3590
-
-
Cervantes, R.B.1
Stringer, J.R.2
Shao, C.3
Tischfield, J.A.4
Stambrook, P.J.5
-
7
-
-
0023071678
-
An improved method for preparing G-banded chromosomes from mouse peripheral blood
-
Davisson MT, Akeson EC. 1987. An improved method for preparing G-banded chromosomes from mouse peripheral blood. Cytogenet Cell Genet 45:70-74.
-
(1987)
Cytogenet Cell Genet
, vol.45
, pp. 70-74
-
-
Davisson, M.T.1
Akeson, E.C.2
-
8
-
-
0029839166
-
Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22
-
Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. 1996. Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. J Med Genet 33:952-956.
-
(1996)
J Med Genet
, vol.33
, pp. 952-956
-
-
Dawson, A.J.1
Mears, A.J.2
Chudley, A.E.3
Bech-Hansen, T.4
McDermid, H.5
-
9
-
-
0028044611
-
No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome
-
De Marchi N, Antonarakis SE, Jackson L. 1994. No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome. Am J Med Genet 49:133-135.
-
(1994)
Am J Med Genet
, vol.49
, pp. 133-135
-
-
De Marchi, N.1
Antonarakis, S.E.2
Jackson, L.3
-
10
-
-
18344374004
-
A genomewide linkage scan for quantitative-trait loci for obesity phenotypes
-
Deng HW, Deng H, Liu YJ, Liu YZ, Xu FH, Shen H, Conway T, Li JL, Huang QY, Davies KM, Recker RR. 2002. A genomewide linkage scan for quantitative-trait loci for obesity phenotypes. Am J Hum Genet 70:1138-1151.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1138-1151
-
-
Deng, H.W.1
Deng, H.2
Liu, Y.J.3
Liu, Y.Z.4
Xu, F.H.5
Shen, H.6
Conway, T.7
Li, J.L.8
Huang, Q.Y.9
Davies, K.M.10
Recker, R.R.11
-
11
-
-
0018939994
-
A new genetic concept: Uniparental disomy and its potential effect, isodisomy
-
Engel E. 1980. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143.
-
(1980)
Am J Med Genet
, vol.6
, pp. 137-143
-
-
Engel, E.1
-
12
-
-
0032231561
-
Uniparental disomies in unselected populations
-
Engel E. 1998. Uniparental disomies in unselected populations. Am J Hum Genet 63:962-966.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 962-966
-
-
Engel, E.1
-
13
-
-
0032231302
-
Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects
-
Field LL, Tobias R, Robinson WP, Paisey R, Bain S. 1998. Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. Am J Hum Genet 63:1216-1220.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1216-1220
-
-
Field, L.L.1
Tobias, R.2
Robinson, W.P.3
Paisey, R.4
Bain, S.5
-
14
-
-
0036723958
-
Usher syndrome type III: Revised genomic structure of the USH3 gene and identification of novel mutations
-
Fields RR, Zhou G, Huang D, Davis JR, Moller C, Jacobson SG, Kimberling WJ, Sumegi J. 2002. Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. Am J Hum Genet 71:607-617.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 607-617
-
-
Fields, R.R.1
Zhou, G.2
Huang, D.3
Davis, J.R.4
Moller, C.5
Jacobson, S.G.6
Kimberling, W.J.7
Sumegi, J.8
-
15
-
-
0036181136
-
Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause
-
Hannula K, Lipsanen-Nyman M, Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P, Holmberg C, Kere J. 2002. Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause. Pediatrics 109:441-448.
-
(2002)
Pediatrics
, vol.109
, pp. 441-448
-
-
Hannula, K.1
Lipsanen-Nyman, M.2
Kristo, P.3
Kaitila, I.4
Simola, K.O.5
Lenko, H.L.6
Tapanainen, P.7
Holmberg, C.8
Kere, J.9
-
16
-
-
32544432967
-
A case of Fanconi Bickel syndrome caused by uniparental disomy of chromosome 3 with hyperinsulinism and hyperammonemia
-
Abstract number 1841/F3
-
Hoffman TL, Parton PG, De Leon D, Gadi I, Krantz I, Santer R, Stanley C, Wilson T 2004. A case of Fanconi Bickel syndrome caused by uniparental disomy of chromosome 3 with hyperinsulinism and hyperammonemia. In: Proceedings of the Meeting of the American Society of Human Genetics. Abstract number 1841/F3.
-
(2004)
Proceedings of the Meeting of the American Society of Human Genetics
-
-
Hoffman, T.L.1
Parton, P.G.2
De Leon, D.3
Gadi, I.4
Krantz, I.5
Santer, R.6
Stanley, C.7
Wilson, T.8
-
17
-
-
0033613977
-
Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
-
Kotzot D. 1999. Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 82:265-274.
-
(1999)
Am J Med Genet
, vol.82
, pp. 265-274
-
-
Kotzot, D.1
-
18
-
-
0036707790
-
Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15
-
Kotzot D. 2002. Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. Am J Med Genet 111:366-375.
-
(2002)
Am J Med Genet
, vol.111
, pp. 366-375
-
-
Kotzot, D.1
-
19
-
-
0027484377
-
An index marker map of chromosome 9 provides strong evidence for positive interference
-
Kwiatkowski DJ, Dib C, Slaugenhaupt SA, Povey S, Gusella JF, Haines JL. 1993. An index marker map of chromosome 9 provides strong evidence for positive interference. Am J Hum Genet 53:1279-1288.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1279-1288
-
-
Kwiatkowski, D.J.1
Dib, C.2
Slaugenhaupt, S.A.3
Povey, S.4
Gusella, J.F.5
Haines, J.L.6
-
20
-
-
0029162269
-
Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
-
Ledbetter DH, Engel E. 1995. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4(Spec No):1757-1764.
-
(1995)
Hum Mol Genet
, vol.4
, Issue.SPEC. NO.
, pp. 1757-1764
-
-
Ledbetter, D.H.1
Engel, E.2
-
21
-
-
0031920515
-
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
-
Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F. 1998. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 18:365-368.
-
(1998)
Nat Genet
, vol.18
, pp. 365-368
-
-
Minetti, C.1
Sotgia, F.2
Bruno, C.3
Scartezzini, P.4
Broda, P.5
Bado, M.6
Masetti, E.7
Mazzocco, M.8
Egeo, A.9
Donati, M.A.10
Volonte, D.11
Galbiati, F.12
Cordone, G.13
Bricarelli, F.D.14
Lisanti, M.P.15
Zara, F.16
-
22
-
-
0032581119
-
Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2)
-
Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK. 1998. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2). Am J Med Genet 78:134-139.
-
(1998)
Am J Med Genet
, vol.78
, pp. 134-139
-
-
Park, J.P.1
Moeschler, J.B.2
Hani, V.H.3
Hawk, A.B.4
Belloni, D.R.5
Noll, W.W.6
Mohandas, T.K.7
-
23
-
-
0026680691
-
Uniparental disomy 15 resulting from "correction" of an initial trisomy 15
-
Purvis-Smith SG, Saville T, Manass S, Yip MY, Lam-Po-Tang PR, Duffy B, Johnston H, Leigh D, McDonald B. 1992. Uniparental disomy 15 resulting from "correction" of an initial trisomy 15. Am J Hum Genet 50:1348-1350.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1348-1350
-
-
Purvis-Smith, S.G.1
Saville, T.2
Manass, S.3
Yip, M.Y.4
Lam-Po-Tang, P.R.5
Duffy, B.6
Johnston, H.7
Leigh, D.8
McDonald, B.9
-
24
-
-
0034096456
-
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15
-
Robinson WP, Christian SL, Kuchinka BD, Penaherrera MS, Das S, Schuffenhauer S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH. 2000. Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15. Clin Genet 57:349-358.
-
(2000)
Clin Genet
, vol.57
, pp. 349-358
-
-
Robinson, W.P.1
Christian, S.L.2
Kuchinka, B.D.3
Penaherrera, M.S.4
Das, S.5
Schuffenhauer, S.6
Malcolm, S.7
Schinzel, A.A.8
Hassold, T.J.9
Ledbetter, D.H.10
-
25
-
-
18844446449
-
CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3qter)
-
Schollen E, Grunewald S, Keldermans L, Albrecht B, Korner C, Matthijs G. 2005. CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3qter). Eur J Med Genet 48:153-158.
-
(2005)
Eur J Med Genet
, vol.48
, pp. 153-158
-
-
Schollen, E.1
Grunewald, S.2
Keldermans, L.3
Albrecht, B.4
Korner, C.5
Matthijs, G.6
-
26
-
-
0027160691
-
Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann-de Lange syndrome
-
Shaffer LG, Overhauser J, Jackson LG, Ledbetter DH. 1993. Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome. Am J Med Genet 47:383-386.
-
(1993)
Am J Med Genet
, vol.47
, pp. 383-386
-
-
Shaffer, L.G.1
Overhauser, J.2
Jackson, L.G.3
Ledbetter, D.H.4
-
27
-
-
0023897290
-
Uniparental disomy as a mechanism for human genetic disease
-
Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. 1988. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 217-226
-
-
Spence, J.E.1
Perciaccante, R.G.2
Greig, G.M.3
Willard, H.F.4
Ledbetter, D.H.5
Hejtmancik, J.F.6
Pollack, M.S.7
O'Brien, W.E.8
Beaudet, A.L.9
-
28
-
-
0036453493
-
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations
-
Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M. 2002. Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations. Hum Mutat 20:447-451.
-
(2002)
Hum Mutat
, vol.20
, pp. 447-451
-
-
Spiekerkoetter, U.1
Eeds, A.2
Yue, Z.3
Haines, J.4
Strauss, A.W.5
Summar, M.6
-
29
-
-
0025819444
-
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier
-
Wang JC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK. 1991. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet 48:1069-1074.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1069-1074
-
-
Wang, J.C.1
Passage, M.B.2
Yen, P.H.3
Shapiro, L.J.4
Mohandas, T.K.5
-
30
-
-
0027365391
-
Evidence for human meiotic recombination interference obtained through construction of a short tandem repeat-polymorphism linkage map of chromosome 19
-
Weber JL, Wang Z, Hansen K, Stephenson M, Kappel C, Salzman S, Wilkie PJ, Keats B, Dracopoli NC, Brandriff BF. 1993. Evidence for human meiotic recombination interference obtained through construction of a short tandem repeat-polymorphism linkage map of chromosome 19. Am J Hum Genet 53:1079-1095.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1079-1095
-
-
Weber, J.L.1
Wang, Z.2
Hansen, K.3
Stephenson, M.4
Kappel, C.5
Salzman, S.6
Wilkie, P.J.7
Keats, B.8
Dracopoli, N.C.9
Brandriff, B.F.10
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