-
1
-
-
0029095603
-
Factor VIII gene inversions in severe hemophilia A: Results of an international consortium study
-
Antonarakis SE, Rossiter JP, Young M, Horst J, deMoerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Négrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, Lavergne JM, Vidaud M, Costa JM, Laurian Y, Lin S-W, Lin S-R, Shen M-C, Lillicrap D, Taylor SAM, Windsor S, Valleix SV, Nafa K, Sultan Y, Delpech M, Vnencak-Jones CL, Phillips JA III, Ljung RCR, Koumbarelis E, Gialeraki A, Mandalaki T, Jenkins PV, Collins PW, Pasi KJ, Goodeve A, Peake I, Preston FE, Schwanz M, Scheibel E, Ingerslev J, Cooper DN, Millar DS, Kakkar VV, Giannelli F, Naylor JA, Tizzano EF, Baiget M, Domenech M, Altisent C, Tusell J, Beneyto M, Lorenzo JI, Gaucher C, Mazurier C, Peerlinck K, Matthijs G, Cassiman JJ, Vermylen J, Mori PG, Acquila M, Caprino D, Inaba H (1995) Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 86:2206-2212
-
(1995)
Blood
, vol.86
, pp. 2206-2212
-
-
Antonarakis, S.E.1
Rossiter, J.P.2
Young, M.3
Horst, J.4
DeMoerloose, P.5
Sommer, S.S.6
Ketterling, R.P.7
Kazazian H.H., Jr.8
Négrier, C.9
Vinciguerra, C.10
Gitschier, J.11
Goossens, M.12
Girodon, E.13
Ghanem, N.14
Plassa, F.15
Lavergne, J.M.16
Vidaud, M.17
Costa, J.M.18
Laurian, Y.19
Lin, S.-W.20
Lin, S.-R.21
Shen, M.-C.22
Lillicrap, D.23
Taylor, S.A.M.24
Windsor, S.25
Valleix, S.V.26
Nafa, K.27
Sultan, Y.28
Delpech, M.29
Vnencak-Jones, C.L.30
Phillips J.A. III31
Ljung, R.C.R.32
Koumbarelis, E.33
Gialeraki, A.34
Mandalaki, T.35
Jenkins, P.V.36
Collins, P.W.37
Pasi, K.J.38
Goodeve, A.39
Peake, I.40
Preston, F.E.41
Schwartz, M.42
Scheibel, E.43
Ingerslev, J.44
Cooper, D.N.45
Millar, D.S.46
Kakkar, V.V.47
Giannelli, F.48
Naylor, J.A.49
Tizzano, E.F.50
Baiget, M.51
Domenech, M.52
Altisent, C.53
Tusell, J.54
Beneyto, M.55
Lorenzo, J.I.56
Gaucher, C.57
Mazurier, C.58
Peerlinck, K.59
Matthijs, G.60
Cassiman, J.J.61
Vermylen, J.62
Mori, P.G.63
Acquila, M.64
Caprino, D.65
Inaba, H.66
more..
-
2
-
-
0024313863
-
Germinal mosaicism increases the recurrence risk for "new" Duchenne muscular dystrophy mutations
-
Bakker E, Veenema H, DenDunnen JT, van Broeckhoven C, Grootscholten PM, Bonten EJ, van Ommen GJB, Pearson PL (1989) Germinal mosaicism increases the recurrence risk for "new" Duchenne muscular dystrophy mutations. J Med Genet 26:553-559
-
(1989)
J Med Genet
, vol.26
, pp. 553-559
-
-
Bakker, E.1
Veenema, H.2
DenDunnen, J.T.3
Van Broeckhoven, C.4
Grootscholten, P.M.5
Bonten, E.J.6
Van Ommen, G.J.B.7
Pearson, P.L.8
-
3
-
-
0029865410
-
Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutation frequencies
-
Becker J, Schwaab R, Moller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, Olek K, Oldenburg J (1996) Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 58:657-670
-
(1996)
Am J Hum Genet
, vol.58
, pp. 657-670
-
-
Becker, J.1
Schwaab, R.2
Moller-Taube, A.3
Schwaab, U.4
Schmidt, W.5
Brackmann, H.H.6
Grimm, T.7
Olek, K.8
Oldenburg, J.9
-
4
-
-
0023194743
-
RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes
-
Bernardi F, Marchetti G, Bertagnolo V, Faggioli L, Volinia S, Patracchini P, Bartolai S, Vannini F, Felloni L, Rossi L, Panicucci F, Conconi F (1987) RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes. Hum Genet 76:253-256
-
(1987)
Hum Genet
, vol.76
, pp. 253-256
-
-
Bernardi, F.1
Marchetti, G.2
Bertagnolo, V.3
Faggioli, L.4
Volinia, S.5
Patracchini, P.6
Bartolai, S.7
Vannini, F.8
Felloni, L.9
Rossi, L.10
Panicucci, F.11
Conconi, F.12
-
5
-
-
0024787723
-
Hemophilia B in a male with a four-base insertion that arose in the germline of his mother
-
Bottema CDK, Ketterling RP, Cho HI, Sommer SS (1989) Hemophilia B in a male with a four-base insertion that arose in the germline of his mother. Nucleic Acids Res 17:10139
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 10139
-
-
Bottema, C.D.K.1
Ketterling, R.P.2
Cho, H.I.3
Sommer, S.S.4
-
6
-
-
0025075346
-
The pattern of factor IX germline mutation in Asians is similar to that of Caucasians
-
Bottema CDK, Ketterling RP, Yoon H-S, Sommer SS (1990) The pattern of factor IX germline mutation in Asians is similar to that of Caucasians. Am J Hum Genet 47:835-841
-
(1990)
Am J Hum Genet
, vol.47
, pp. 835-841
-
-
Bottema, C.D.K.1
Ketterling, R.P.2
Yoon, H.-S.3
Sommer, S.S.4
-
7
-
-
0027327067
-
The pattern of spontaneous germline mutation: Relative rates of mutation at or near CpG dinucleotides in the factor IX gene
-
Bottema CDK, Ketterling RP, Vielhaber E, Yoon H-S, Gostout B, Jacobson DP, Shapiro A, Sommer SS (1993) The pattern of spontaneous germline mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene. Hum Genet 91: 496-503
-
(1993)
Hum Genet
, vol.91
, pp. 496-503
-
-
Bottema, C.D.K.1
Ketterling, R.P.2
Vielhaber, E.3
Yoon, H.-S.4
Gostout, B.5
Jacobson, D.P.6
Shapiro, A.7
Sommer, S.S.8
-
8
-
-
0027963492
-
A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals
-
Bourn D, Carter SA, Evans DGR, Goodship J, Coakham H, Strachan T (1994) A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 55: 69-73
-
(1994)
Am J Hum Genet
, vol.55
, pp. 69-73
-
-
Bourn, D.1
Carter, S.A.2
Evans, D.G.R.3
Goodship, J.4
Coakham, H.5
Strachan, T.6
-
9
-
-
0028958947
-
Estimating the intensity of male-drive evolution in rodents by using X-linked and Y-linked Ubel genes and pseudogenes
-
Chang BH-J, Li W-H (1995) Estimating the intensity of male-drive evolution in rodents by using X-linked and Y-linked Ubel genes and pseudogenes. J Mol Evol 40:70-77
-
(1995)
J Mol Evol
, vol.40
, pp. 70-77
-
-
Chang, B.H.-J.1
Li, W.-H.2
-
10
-
-
0028088997
-
Weak male-drive molecular evolution in rodents
-
Chang BHJ, Shimmin LC, Shyue S-K, Hewett-Emmett D, Li W-H (1994) Weak male-drive molecular evolution in rodents. Proc Natl Acad Sci USA 91:827-831
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 827-831
-
-
Chang, B.H.J.1
Shimmin, L.C.2
Shyue, S.-K.3
Hewett-Emmett, D.4
Li, W.-H.5
-
11
-
-
0025356103
-
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COLIAI)
-
Cohn DH, Starman BJ, Blumberg B, Byers PH (1990) Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COLIAI). Hum Genet 46:591-601
-
(1990)
Hum Genet
, vol.46
, pp. 591-601
-
-
Cohn, D.H.1
Starman, B.J.2
Blumberg, B.3
Byers, P.H.4
-
12
-
-
0025322399
-
Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations
-
Driscoll DJ, Migeon BR (1990) Sex difference in methylation of single-copy genes in human meiotic germ cells: implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations. Somat Cell Mol Genet 16:267-282
-
(1990)
Somat Cell Mol Genet
, vol.16
, pp. 267-282
-
-
Driscoll, D.J.1
Migeon, B.R.2
-
13
-
-
0029078029
-
Biological bases of germline mutation: Comparisons of spontaneous germline mutation rates among Drosophila, mouse, and human
-
Drost JB, Lee WR (1995) Biological bases of germline mutation: comparisons of spontaneous germline mutation rates among Drosophila, mouse, and human. Environ Mol Mutagen 25:48-64
-
(1995)
Environ Mol Mutagen
, vol.25
, pp. 48-64
-
-
Drost, J.B.1
Lee, W.R.2
-
14
-
-
0024339365
-
Parental origin of mutations of the retinoblastoma gene
-
Dryja TP, Mukai S, Petersen R, Rapaport JM, Walton D, Yandell DW (1989) Parental origin of mutations of the retinoblastoma gene. Nature 339:556-558
-
(1989)
Nature
, vol.339
, pp. 556-558
-
-
Dryja, T.P.1
Mukai, S.2
Petersen, R.3
Rapaport, J.M.4
Walton, D.5
Yandell, D.W.6
-
15
-
-
0026571472
-
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: A European study
-
van Essen AJ, Abbs S, Baiget M, Bakker E, Boileau C, van Broeckhoven C, Bushby K, Clarke A, Claustres M, Covone AE, Ferrari M, Ferlini A, Galluzzi G, Grimm T, Grubben C, Jeanpierre M, Kaariainen H, Liechti-Gallati S, Melis MA, van Ommen G-JB, Poncin JE, Scheffer H, Schwartz M, Speer A, Stuhrmann M, Verellen-Dumoulin C, Wilcox DE, tenKate LP (1992) Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet 88:249-257
-
(1992)
Hum Genet
, vol.88
, pp. 249-257
-
-
Van Essen, A.J.1
Abbs, S.2
Baiget, M.3
Bakker, E.4
Boileau, C.5
Van Broeckhoven, C.6
Bushby, K.7
Clarke, A.8
Claustres, M.9
Covone, A.E.10
Ferrari, M.11
Ferlini, A.12
Galluzzi, G.13
Grimm, T.14
Grubben, C.15
Jeanpierre, M.16
Kaariainen, H.17
Liechti-Gallati, S.18
Melis, M.A.19
Van Ommen, G.-J.B.20
Poncin, J.E.21
Scheffer, H.22
Schwartz, M.23
Speer, A.24
Stuhrmann, M.25
Verellen-Dumoulin, C.26
Wilcox, D.E.27
TenKate, L.P.28
more..
-
16
-
-
0027793048
-
Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample
-
Ghanem N, Costes B, Martin J, Vidaud M, Rothschild C, Foyer-Gazengel C, Goossens M (1993) Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample. Eur J Hum Genet 1:144-155
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 144-155
-
-
Ghanem, N.1
Costes, B.2
Martin, J.3
Vidaud, M.4
Rothschild, C.5
Foyer-Gazengel, C.6
Goossens, M.7
-
17
-
-
0029926277
-
Haemophilia B (sixth edition): A database of point mutations and short additions and deletions
-
Giannelli F, Green PM, Sommer SS, Poon M-C, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, Brownlee GG (1996) Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Res 24:103-118
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 103-118
-
-
Giannelli, F.1
Green, P.M.2
Sommer, S.S.3
Poon, M.-C.4
Ludwig, M.5
Schwaab, R.6
Reitsma, P.H.7
Goossens, M.8
Yoshioka, A.9
Brownlee, G.G.10
-
18
-
-
0027280504
-
Germline mutations in the factor IX gene: A comparison of the pattern in Caucasians and non-Caucasians
-
Gostout B, Vielhaber E, Ketterling RP, Yoon H-S, Bottema CDK, Kasper CK, Koerper M, Sommer SS (1993) Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians. Hum Mol Genet 2:293-298
-
(1993)
Hum Mol Genet
, vol.2
, pp. 293-298
-
-
Gostout, B.1
Vielhaber, E.2
Ketterling, R.P.3
Yoon, H.-S.4
Bottema, C.D.K.5
Kasper, C.K.6
Koerper, M.7
Sommer, S.S.8
-
19
-
-
0025323622
-
Somatic mosaicism in a patient with bilateral retinoblastoma
-
Greger V, Passarge E, Horsthemke B (1990) Somatic mosaicism in a patient with bilateral retinoblastoma. Am J Hum Genet 46: 1187-1193
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1187-1193
-
-
Greger, V.1
Passarge, E.2
Horsthemke, B.3
-
20
-
-
0028256298
-
On the origin of deletions and point mutations in Duchenne muscular dystrophy: Most deletions arise in oogenesis and most point mutations result from events in spermatogenesis
-
Grimm T, Meng G, Liechti-Gallati S, Bettecken T, Muller CR, Muller B (1994) On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. J Med Genet 31:183-186
-
(1994)
J Med Genet
, vol.31
, pp. 183-186
-
-
Grimm, T.1
Meng, G.2
Liechti-Gallati, S.3
Bettecken, T.4
Muller, C.R.5
Muller, B.6
-
21
-
-
0023254227
-
Carrier detection of haemophilia A using DNA markers in families with an isolated affected male
-
Grover H, Phillips MA, Lillicrap DP, Giles AR, Garvey MB, Teitel J, Rivard G, Blanchette V, White BN, Holden JJA (1987) Carrier detection of haemophilia A using DNA markers in families with an isolated affected male. Clin Genet 32:10-19
-
(1987)
Clin Genet
, vol.32
, pp. 10-19
-
-
Grover, H.1
Phillips, M.A.2
Lillicrap, D.P.3
Giles, A.R.4
Garvey, M.B.5
Teitel, J.6
Rivard, G.7
Blanchette, V.8
White, B.N.9
Holden, J.J.A.10
-
23
-
-
77951509701
-
The rate of spontaneous mutation of a human gene
-
Haldane JBS (1935) The rate of spontaneous mutation of a human gene. J Genet 31:317-326
-
(1935)
J Genet
, vol.31
, pp. 317-326
-
-
Haldane, J.B.S.1
-
24
-
-
0023926195
-
A somatic mosaic for haemophilia A detected at the DNA level
-
Higuchi M, Kochhan L, Olek K (198S) A somatic mosaic for haemophilia A detected at the DNA level. Mol Biol Med 5: 23-27
-
(1985)
Mol Biol Med
, vol.5
, pp. 23-27
-
-
Higuchi, M.1
Kochhan, L.2
Olek, K.3
-
25
-
-
0027954048
-
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery
-
Hirschhorn R, Yang DR, Israni A, Huie ML, Ownby DR (1994) Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. Am J Hum Genet 55:59-68
-
(1994)
Am J Hum Genet
, vol.55
, pp. 59-68
-
-
Hirschhorn, R.1
Yang, D.R.2
Israni, A.3
Huie, M.L.4
Ownby, D.R.5
-
26
-
-
0025097932
-
Paternal origin of new mutations in von Recklinghausen neurofibromalosis
-
Jadayel D, Fain P, Upadhyaya M, Ponder MA, Huson SM, Carey J, Fryer A, Mathew CGP, Barker DF, Ponder BAJ (1990) Paternal origin of new mutations in von Recklinghausen neurofibromalosis. Nature 343:558-559
-
(1990)
Nature
, vol.343
, pp. 558-559
-
-
Jadayel, D.1
Fain, P.2
Upadhyaya, M.3
Ponder, M.A.4
Huson, S.M.5
Carey, J.6
Fryer, A.7
Mathew, C.G.P.8
Barker, D.F.9
Ponder, B.A.J.10
-
27
-
-
0026211963
-
Evidence that descendants of three founders comprise about 25% of hemophilia B in the United States
-
Ketterling RP, Bottema CDK, Phillips JP III, Sommer SS (1991) Evidence that descendants of three founders comprise about 25% of hemophilia B in the United States. Genomics 10:1093-1096
-
(1991)
Genomics
, vol.10
, pp. 1093-1096
-
-
Ketterling, R.P.1
Bottema, C.D.K.2
Phillips J.P. III3
Sommer, S.S.4
-
28
-
-
0027405870
-
Germline origins of mutation in families with hemophilia B: The sex ratio varies with the type of mutation
-
Ketterling RP, Vielhaber E, Bottema CDK, Schaid DJ, Cohen MP, Sexauer CL, Sommer SS (1993) Germline origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. Am J Hum Genet 52:152-166
-
(1993)
Am J Hum Genet
, vol.52
, pp. 152-166
-
-
Ketterling, R.P.1
Vielhaber, E.2
Bottema, C.D.K.3
Schaid, D.J.4
Cohen, M.P.5
Sexauer, C.L.6
Sommer, S.S.7
-
29
-
-
0028057992
-
The rales and patterns of deletions in the human factor IX gene
-
Ketterling RP, Vielhaber EL, Lind TJ, Thorland EC, Sommer SS (1994) The rales and patterns of deletions in the human factor IX gene. Am J Hum Genet 54:201-213
-
(1994)
Am J Hum Genet
, vol.54
, pp. 201-213
-
-
Ketterling, R.P.1
Vielhaber, E.L.2
Lind, T.J.3
Thorland, E.C.4
Sommer, S.S.5
-
30
-
-
0028933681
-
Two novel factor IX promoter mutations: Incremental progress towards "saturation in vivo mutagenesis" of a human promoter region
-
Ketterling RP, Liu J-Z, Liao D, Kasper CK, Ambriz R, Paredes R, Sommer SS (1995) Two novel factor IX promoter mutations: incremental progress towards "saturation in vivo mutagenesis" of a human promoter region. Hum Mol Genet 4:769-770
-
(1995)
Hum Mol Genet
, vol.4
, pp. 769-770
-
-
Ketterling, R.P.1
Liu, J.-Z.2
Liao, D.3
Kasper, C.K.4
Ambriz, R.5
Paredes, R.6
Sommer, S.S.7
-
31
-
-
0026549848
-
Origin of mutation in sporadic cases of haemophilia-B
-
Kling S, Ljung R, Sjörin E, Montandon J, Green P, Giannelli F, Nilsson IM (1992) Origin of mutation in sporadic cases of haemophilia-B. Eur J Haematol 48:142-145
-
(1992)
Eur J Haematol
, vol.48
, pp. 142-145
-
-
Kling, S.1
Ljung, R.2
Sjörin, E.3
Montandon, J.4
Green, P.5
Giannelli, F.6
Nilsson, I.M.7
-
32
-
-
0027292621
-
Recurrent mutations in the actor IX gene: Founder effect or repeat de novo events
-
Knobloch O, Zoll B, Zerres K, Brackmann H-H, Olek K, Ludwig M (1993) Recurrent mutations in the (actor IX gene: founder effect or repeat de novo events. Hum Genet 92:40-48
-
(1993)
Hum Genet
, vol.92
, pp. 40-48
-
-
Knobloch, O.1
Zoll, B.2
Zerres, K.3
Brackmann, H.-H.4
Olek, K.5
Ludwig, M.6
-
33
-
-
0025361611
-
Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs
-
Koeberl DD, Bottema CDK, Sarkar G, Ketterling RP, Chen S-H, Sommer SS (1990) Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs. Hum Genet 84:387-390
-
(1990)
Hum Genet
, vol.84
, pp. 387-390
-
-
Koeberl, D.D.1
Bottema, C.D.K.2
Sarkar, G.3
Ketterling, R.P.4
Chen, S.-H.5
Sommer, S.S.6
-
34
-
-
0026728449
-
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3AI) gene causes type IV Ehlers-Danlos syndrome: The mutated allele is present in most blood leukocytes of the asymptomatic mosaic mother
-
Kontusaari S, Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ (1992) Substitution of aspartate for glycine 1018 in the type III procollagen (COL3AI) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic mosaic mother. Am J Hum Genet 51:497-507
-
(1992)
Am J Hum Genet
, vol.51
, pp. 497-507
-
-
Kontusaari, S.1
Tromp, G.2
Kuivaniemi, H.3
Stolle, C.4
Pope, F.M.5
Prockop, D.J.6
-
35
-
-
0027520025
-
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
-
Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J (1993) Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 5:236-241
-
(1993)
Nat Genet
, vol.5
, pp. 236-241
-
-
Lakich, D.1
Kazazian H.H., Jr.2
Antonarakis, S.E.3
Gitschier, J.4
-
36
-
-
0028779847
-
Neurofibromatosis type I due to germ-line mosaicism in a clinically normal father
-
Lazaro C, Ravella A, Gaona A, Volpini V, Estivill X (1994) Neurofibromatosis type I due to germ-line mosaicism in a clinically normal father. N Engl J Med 331:1403-1407
-
(1994)
N Engl J Med
, vol.331
, pp. 1403-1407
-
-
Lazaro, C.1
Ravella, A.2
Gaona, A.3
Volpini, V.4
Estivill, X.5
-
37
-
-
0028605624
-
Parameters affecting the sensitivities of dideoxy fingerprinting and SSCP
-
Liu Q, Sommer SS (1994) Parameters affecting the sensitivities of dideoxy fingerprinting and SSCP. PCR Methods Appl 4:97-108
-
(1994)
PCR Methods Appl
, vol.4
, pp. 97-108
-
-
Liu, Q.1
Sommer, S.S.2
-
38
-
-
0026518337
-
Parental origin of factor IX gene mutations, and their distribution in the gene
-
Ludwig M, Grimm T, Brackmann HH, Olek K (1992) Parental origin of factor IX gene mutations, and their distribution in the gene. Am J Hum Genet 50:164-173
-
(1992)
Am J Hum Genet
, vol.50
, pp. 164-173
-
-
Ludwig, M.1
Grimm, T.2
Brackmann, H.H.3
Olek, K.4
-
39
-
-
0025297773
-
Two factor IX mutations in the family of an isolated haemophilia B patient: Direct carrier diagnosis by amplification mismatch detection (AMD)
-
Montandon AJ, Green PM, Bentley DR, Ljung R, Nilsson IM, Giannelli F (1990) Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD). Hum Genet 85:200-204
-
(1990)
Hum Genet
, vol.85
, pp. 200-204
-
-
Montandon, A.J.1
Green, P.M.2
Bentley, D.R.3
Ljung, R.4
Nilsson, I.M.5
Giannelli, F.6
-
40
-
-
0026664109
-
Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden
-
Montandon AJ, Green PM, Bentley DR, Ljung R, Kling S, Nilsson IM, Giannelli F (1992) Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden. Hum Genet 89:319-322
-
(1992)
Hum Genet
, vol.89
, pp. 319-322
-
-
Montandon, A.J.1
Green, P.M.2
Bentley, D.R.3
Ljung, R.4
Kling, S.5
Nilsson, I.M.6
Giannelli, F.7
-
41
-
-
0021358756
-
Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention
-
Moser H (1984) Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet 66:17-40
-
(1984)
Hum Genet
, vol.66
, pp. 17-40
-
-
Moser, H.1
-
42
-
-
0027376685
-
Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
-
Naylor J, Brinke A, Hassock S, Green PM, Giannelli F (1993) Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 2:1773-1778
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1773-1778
-
-
Naylor, J.1
Brinke, A.2
Hassock, S.3
Green, P.M.4
Giannelli, F.5
-
43
-
-
0027759563
-
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1 A: Unequal nonsister chromatid exchange during spermatogenesis
-
Palau F, Lofgren A, DeJonghe P, Bort S, Nelis E, Sevilla T, Martin JJ, Vilchez J, Prieto F, Broeckhoven C van (1993) Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1 A: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet 2:2031-2035
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2031-2035
-
-
Palau, F.1
Lofgren, A.2
DeJonghe, P.3
Bort, S.4
Nelis, E.5
Sevilla, T.6
Martin, J.J.7
Vilchez, J.8
Prieto, F.9
Van Broeckhoven, C.10
-
45
-
-
0025630722
-
Sex ratio of the mutation frequencies in haemophilia A: Estimation and meta-analysis
-
Rosendaal FR, Bröcker-Vriends AHJT, van Houwelingen JC, Smit C, Varekamp I, Dijck H van, Suurmeijer TPBM, Vandenbroucke JP, Briët E (1990) Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis. Hum Genet 86:139-146
-
(1990)
Hum Genet
, vol.86
, pp. 139-146
-
-
Rosendaal, F.R.1
Bröcker-Vriends, A.H.J.T.2
Van Houwelingen, J.C.3
Smit, C.4
Varekamp, I.5
Van Dijck, H.6
Suurmeijer, T.P.B.M.7
Vandenbroucke, J.P.8
Briët, E.9
-
46
-
-
0028180964
-
Factor VIII gene inversions causing severe hemophilia a originate almost exclusively in male germ cells
-
Rossiter JP, Young M, Kimberland ML, Hutter P, Ketterling RP, Gitschier J, Horst J, Morris MA, Schaid DJ, de Moerloose P, Sommer SS, Kazazian HH Jr, Antonarakis SE (1994) Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 3:1035-1039
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1035-1039
-
-
Rossiter, J.P.1
Young, M.2
Kimberland, M.L.3
Hutter, P.4
Ketterling, R.P.5
Gitschier, J.6
Horst, J.7
Morris, M.A.8
Schaid, D.J.9
De Moerloose, P.10
Sommer, S.S.11
Kazazian H.H., Jr.12
Antonarakis, S.E.13
-
47
-
-
0025924603
-
Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter region
-
Royle G, van de Water NS, Berry E, Ockelford PA, Browett PJ (1991) Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter region. Br J Haematol 77:191-194
-
(1991)
Br J Haematol
, vol.77
, pp. 191-194
-
-
Royle, G.1
Van De Water, N.S.2
Berry, E.3
Ockelford, P.A.4
Browett, P.J.5
-
49
-
-
0028960841
-
Recent human germ-line mutation: Inferences from patients with hemophilia B
-
Sommer SS (1995) Recent human germ-line mutation: inferences from patients with hemophilia B. Trends Genet 11:141-147
-
(1995)
Trends Genet
, vol.11
, pp. 141-147
-
-
Sommer, S.S.1
-
50
-
-
0028260293
-
How precisely can data from transgenic mouse mutation-detection systems be extrapolated to humans? Lessons from the human factor IX gene
-
Sommer SS, Ketterling RP (1994) How precisely can data from transgenic mouse mutation-detection systems be extrapolated to humans? Lessons from the human factor IX gene. Mutat Res 307:517-531
-
(1994)
Mutat Res
, vol.307
, pp. 517-531
-
-
Sommer, S.S.1
Ketterling, R.P.2
-
51
-
-
0001903552
-
Direct sequencing with the aid of phage promoters
-
Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds) Academic Press, New York
-
Sommer SS, Sarkar G, Koeberl DD, Bottema CDK, Buerstedde J-M, Schowalter DB, Cassady JD (1990) Direct sequencing with the aid of phage promoters. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds) PCR protocols: a guide to methods and applications. Academic Press, New York, pp 197-205
-
(1990)
PCR Protocols: a Guide to Methods and Applications
, pp. 197-205
-
-
Sommer, S.S.1
Sarkar, G.2
Koeberl, D.D.3
Bottema, C.D.K.4
Buerstedde, J.-M.5
Schowalter, D.B.6
Cassady, J.D.7
-
52
-
-
0028823985
-
Germline mosaicism in a female who seemed to be a carrier by sequence analysis
-
Sommer SS, Knöll A, Greenberg CR, Ketterling RP (1995) Germline mosaicism in a female who seemed to be a carrier by sequence analysis. Hum Mol Genet 4:2181-2182
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2181-2182
-
-
Sommer, S.S.1
Knöll, A.2
Greenberg, C.R.3
Ketterling, R.P.4
-
53
-
-
0026570008
-
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes
-
Stephens K, Kayes L, Riccardi VM, Rising M, Sybert VP, Pagon RA (1992) Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet 88: 279-282
-
(1992)
Hum Genet
, vol.88
, pp. 279-282
-
-
Stephens, K.1
Kayes, L.2
Riccardi, V.M.3
Rising, M.4
Sybert, V.P.5
Pagon, R.A.6
-
54
-
-
0023690878
-
DNA analysis of seven patients with hemophilia B who have anti-factor IX antibodies: Relationship to clinical manifestations and evidence that the abnormal gene was inherited
-
Tanimoto M, Kojima T, Kamiya T, Takamatsu J, Ogata K, Obata Y, Inagaki M, Iizuka A, Nagao T, Kurachi K, Saito H (1988) DNA analysis of seven patients with hemophilia B who have anti-factor IX antibodies: relationship to clinical manifestations and evidence that the abnormal gene was inherited. J Lab Clin Med 112:307-313
-
(1988)
J Lab Clin Med
, vol.112
, pp. 307-313
-
-
Tanimoto, M.1
Kojima, T.2
Kamiya, T.3
Takamatsu, J.4
Ogata, K.5
Obata, Y.6
Inagaki, M.7
Iizuka, A.8
Nagao, T.9
Kurachi, K.10
Saito, H.11
-
55
-
-
0025960560
-
Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency)
-
Taylor SAM, Deugau KV, Lillicrap DP (1991) Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). Proc Natl Acad Sci USA 88: 39-42
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 39-42
-
-
Taylor, S.A.M.1
Deugau, K.V.2
Lillicrap, D.P.3
-
56
-
-
0028168035
-
Germline origins of de novo mutations in hemophilia B families
-
Thompson AR, Chen S-H (1994) Germline origins of de novo mutations in hemophilia B families. Hum Genet 94:299-302
-
(1994)
Hum Genet
, vol.94
, pp. 299-302
-
-
Thompson, A.R.1
Chen, S.-H.2
-
57
-
-
0026578445
-
Factor IX mutations: Rapid, direct screening methods for 20 new families with hemophilia B
-
Thompson AR, Schoof JM, Weinmann AF, Chen S-H (1992) Factor IX mutations: rapid, direct screening methods for 20 new families with hemophilia B. Throm Res 65:289-295
-
(1992)
Throm Res
, vol.65
, pp. 289-295
-
-
Thompson, A.R.1
Schoof, J.M.2
Weinmann, A.F.3
Chen, S.-H.4
-
58
-
-
0026651968
-
Multiple dopamine D4 receptor variants in the human population
-
Van Tol HHM, Wu CM, Guan HC, Ohara K, Bunzow JR, Civelli O, Kennedy J, Seeman P, Niznik HB, Jovanovic V (1992) Multiple dopamine D4 receptor variants in the human population. Nature 358:149-152
-
(1992)
Nature
, vol.358
, pp. 149-152
-
-
Van Tol, H.H.M.1
Wu, C.M.2
Guan, H.C.3
Ohara, K.4
Bunzow, J.R.5
Civelli, O.6
Kennedy, J.7
Seeman, P.8
Niznik, H.B.9
Jovanovic, V.10
-
59
-
-
0033361939
-
High rate of mosaicism in tuberous sclerosis complex
-
Verhoef S, Bakker L, Tempelaars AMP, Hesseling-Janssen ALW, Mazurczak T, Jozwiak S, Fois A, Bartalini G, Zonnenberg BA, van Essen AJ, Lindhout D, Halley DJJ, van den Oeweland AMW (1999) High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 64:1632-1637
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1632-1637
-
-
Verhoef, S.1
Bakker, L.2
Tempelaars, A.M.P.3
Hesseling-Janssen, A.L.W.4
Mazurczak, T.5
Jozwiak, S.6
Fois, A.7
Bartalini, G.8
Zonnenberg, B.A.9
Van Essen, A.J.10
Lindhout, D.11
Halley, D.J.J.12
Van Den Oeweland, A.M.W.13
-
60
-
-
0023028738
-
A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B
-
Vidaud M, Chabret C, Gazengel C, Grunebaum L, Cazennave JP, Goosens M (1986) A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B. Blood 68:961-963
-
(1986)
Blood
, vol.68
, pp. 961-963
-
-
Vidaud, M.1
Chabret, C.2
Gazengel, C.3
Grunebaum, L.4
Cazennave, J.P.5
Goosens, M.6
-
61
-
-
0027874926
-
Hameophilia B due to a de novo insertion of a human-specific alu subfamily member within the coding region of the factor IX gene
-
Vidaud D, Vidaud M, Bahnak BR, Siguret V, Sanchez SG, Laurian Y, Meyer D, Goossens M, Lavergne JM (1993) Hameophilia B due to a de novo insertion of a human-specific alu subfamily member within the coding region of the factor IX gene. Eur J Hum Genet 1:30-36
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 30-36
-
-
Vidaud, D.1
Vidaud, M.2
Bahnak, B.R.3
Siguret, V.4
Sanchez, S.G.5
Laurian, Y.6
Meyer, D.7
Goossens, M.8
Lavergne, J.M.9
-
62
-
-
0028049196
-
Mutation detection, prenatal testing, and delineation of the germline origin in a family with sporadic hemophilia B and no living hemophiliacs
-
Vielhaber E, Freedenberg D, Sommer SS (1994) Mutation detection, prenatal testing, and delineation of the germline origin in a family with sporadic hemophilia B and no living hemophiliacs. Am J Med Genet 49:257-258
-
(1994)
Am J Med Genet
, vol.49
, pp. 257-258
-
-
Vielhaber, E.1
Freedenberg, D.2
Sommer, S.S.3
-
63
-
-
0009705912
-
Population genetics
-
Vogel F, Motulsky AG (eds) Springer, Berlin Heidelberg New York
-
Vogel F, Motulsky AG (1986) Population genetics. In: Vogel F, Motulsky AG (eds) Human genetics. Springer, Berlin Heidelberg New York, pp 205-218
-
(1986)
Human Genetics
, pp. 205-218
-
-
Vogel, F.1
Motulsky, A.G.2
-
64
-
-
0025276737
-
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the áI(I) gene COLIAI of type I collagen in a parent
-
Wallis GA, Starman BJ, Zinn AB, Byers PH (1990) Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the áI(I) gene COLIAI of type I collagen in a parent. Am J Hum Genet 46:1034-1040
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1034-1040
-
-
Wallis, G.A.1
Starman, B.J.2
Zinn, A.B.3
Byers, P.H.4
-
65
-
-
0027457374
-
A polymorphic MseI site 5′ to the factor IX gene varies among ethnic groups
-
Weinmann AF, Reiner AP, Thompson AR (1993) A polymorphic MseI site 5′ to the factor IX gene varies among ethnic groups. Hum Mol Genet 2:486
-
(1993)
Hum Mol Genet
, vol.2
, pp. 486
-
-
Weinmann, A.F.1
Reiner, A.P.2
Thompson, A.R.3
-
66
-
-
0032231407
-
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
-
Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA (1998) Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 63:711-716
-
(1998)
Am J Hum Genet
, vol.63
, pp. 711-716
-
-
Wilkin, D.J.1
Szabo, J.K.2
Cameron, R.3
Henderson, S.4
Bellus, G.A.5
Mack, M.L.6
Kaitila, I.7
Loughlin, J.8
Munnich, A.9
Sykes, B.10
Bonaventure, J.11
Francomano, C.A.12
-
67
-
-
0022257323
-
Nucleotide sequence of the gene for human factor IX (anti-hemophilic factor B)
-
Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K (1985) Nucleotide sequence of the gene for human factor IX (anti-hemophilic factor B). Biochemistry 24:3736-3750
-
(1985)
Biochemistry
, vol.24
, pp. 3736-3750
-
-
Yoshitake, S.1
Schach, B.G.2
Foster, D.C.3
Davie, E.W.4
Kurachi, K.5
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