-
1
-
-
0023257860
-
Germ cell mosaicism and Duchenne muscular dystrophy mutations
-
Bakker E, Broeckhoven C van, Bonten EJ, Vooren MJ van de, Veenema H, Hui W van, Den Dunnen JT, Ommen GJB van, Vandenberghe A, Pearson PL (1987) Germ cell mosaicism and Duchenne muscular dystrophy mutations. Nature 329:554-558
-
(1987)
Nature
, vol.329
, pp. 554-558
-
-
Bakker, E.1
Van Broeckhoven, C.2
Bonten, E.J.3
Van de Vooren, M.J.4
Veenema, H.5
Van Hui, W.6
Den Dunnen, J.T.7
Van Ommen, G.J.B.8
Vandenberghe, A.9
Pearson, P.L.10
-
2
-
-
0024313863
-
Germinal mosaicism increases the recurrence risk for "new" Duchenne muscular dystrophy mutations
-
Bakker E, Veenema H, Den Dunnen JT, Broeckhoven C van, Grootscholten PM, Bonten EJ, Ommen GJB van, 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
Den Dunnen, 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
-
-
0028890851
-
Achondroplasia is defined by recurrent G380R mutations in FGFR3
-
Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA (1995): Achondroplasia is defined by recurrent G380R mutations in FGFR3. Am J Hum Genet 56:368-373
-
(1995)
Am J Hum Genet
, vol.56
, pp. 368-373
-
-
Bellus, G.A.1
Hefferon, T.W.2
De Ortiz Luna, R.I.3
Hecht, J.T.4
Horton, W.A.5
Machado, M.6
Kaitila, I.7
McIntosh, I.8
Francomano, C.A.9
-
5
-
-
0030728563
-
Misleading linkage results in an NF2 presymptomatic test owing to mosaicism
-
Bijlsma EK, Wallace AJ, Evans DGR (1997) Misleading linkage results in an NF2 presymptomatic test owing to mosaicism. J Med Genet 34:934-936
-
(1997)
J Med Genet
, vol.34
, pp. 934-936
-
-
Bijlsma, E.K.1
Wallace, A.J.2
Evans, D.G.R.3
-
6
-
-
0030898113
-
Germ-line and somatic mosaicism in the androgen insensitivity syndrome: Implications for genetic counseling
-
Boehmer ALM, Brinkmann AO, Niermeijer MF, Bakker L, Halley DJJ, Drop SLS (1997) Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. Am J Hum Genet 60:1003-1006
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1003-1006
-
-
Boehmer, A.L.M.1
Brinkmann, A.O.2
Niermeijer, M.F.3
Bakker, L.4
Halley, D.J.J.5
Drop, S.L.S.6
-
7
-
-
0026802473
-
A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta
-
Bonaventure J, Cohen-Solal L, Lasselin C, Maroteaux P (1992) A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta. Hum Genet 89:640-646
-
(1992)
Hum Genet
, vol.89
, pp. 640-646
-
-
Bonaventure, J.1
Cohen-Solal, L.2
Lasselin, C.3
Maroteaux, P.4
-
9
-
-
0023886696
-
Perinatal lethal osteogenesis imperfecta (OI type II): A biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen
-
Byers PH, Tsipouras P, Bonadio F, Starman BJ, Schwanz RC (1988) Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 42:237-248
-
(1988)
Am J Hum Genet
, vol.42
, pp. 237-248
-
-
Byers, P.H.1
Tsipouras, P.2
Bonadio, F.3
Starman, B.J.4
Schwanz, R.C.5
-
10
-
-
0027977002
-
Single missence mutation in the kinase catalytic domain of RET protooncogene is associated with multiple endocrine neoplasia type 2B
-
Carlson KM, Dou S, Chi D, Scavarda N, Toshima K, Jakson CE, Wells SA, Goodfellow PJ, Donis-Keller H (1994) Single missence mutation in the kinase catalytic domain of RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci USA 91:1579-1583
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 1579-1583
-
-
Carlson, K.M.1
Dou, S.2
Chi, D.3
Scavarda, N.4
Toshima, K.5
Jakson, C.E.6
Wells, S.A.7
Goodfellow, P.J.8
Donis-Keller, H.9
-
11
-
-
0025740792
-
Dominant mutations in familial lethal and severe osteogenesis imperfecta
-
Cohen-Solal L, Bonaventure J, Maroteaux P (1991) Dominant mutations in familial lethal and severe osteogenesis imperfecta. Hum Genet 87:297-301
-
(1991)
Hum Genet
, vol.87
, pp. 297-301
-
-
Cohen-Solal, L.1
Bonaventure, J.2
Maroteaux, P.3
-
12
-
-
0025356103
-
Recurrence of a lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1)
-
Cohn DH, Starman BJ, Blumberg B, Byers PH (1990) Recurrence of a lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am J Hum Genet 46:591-601
-
(1990)
Am J Hum Genet
, vol.46
, pp. 591-601
-
-
Cohn, D.H.1
Starman, B.J.2
Blumberg, B.3
Byers, P.H.4
-
13
-
-
0030070963
-
Somatic mosaicism in a patient with neurofibromatosis type I
-
Colman SD, Rasmussen SA, Ho VT, Abernathy CR, Wallace MR (1996) Somatic mosaicism in a patient with neurofibromatosis type I. Am J Hum Genet 58:484-490.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 484-490
-
-
Colman, S.D.1
Rasmussen, S.A.2
Ho, V.T.3
Abernathy, C.R.4
Wallace, M.R.5
-
14
-
-
0027533154
-
Somatic cell mosaicism: Another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta
-
Constantinou-Deltas CD, Ladda RL, Prockop DJ (1993) Somatic cell mosaicism: another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta. Am J Med Genet 45:246-251
-
(1993)
Am J Med Genet
, vol.45
, pp. 246-251
-
-
Constantinou-Deltas, C.D.1
Ladda, R.L.2
Prockop, D.J.3
-
15
-
-
0023745057
-
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD) Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: Location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations
-
Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Franke U (1988) Intragenic deletions in 21 Duchenne muscular dystrophy (DMD) Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet 43:620-629
-
(1988)
Am J Hum Genet
, vol.43
, pp. 620-629
-
-
Darras, B.T.1
Blattner, P.2
Harper, J.F.3
Spiro, A.J.4
Alter, S.5
Franke, U.6
-
16
-
-
0027016289
-
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. the mosaic parent exhibits phenotypic features of a mild form of the disease
-
Edwards MJ, Wenstrup RJ, Byers PH, Cohn DH (1992) Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease. Hum Mutation 1:47-54
-
(1992)
Hum Mutation
, vol.1
, pp. 47-54
-
-
Edwards, M.J.1
Wenstrup, R.J.2
Byers, P.H.3
Cohn, D.H.4
-
17
-
-
0030951850
-
Mosaicism in pseudoachondroplasia
-
Ferguson HL, Deere M, Evans R, Rotta J, Hall JG, Hecht JT (1997) Mosaicism in pseudoachondroplasia. Am J Med Genet 70:287-291
-
(1997)
Am J Med Genet
, vol.70
, pp. 287-291
-
-
Ferguson, H.L.1
Deere, M.2
Evans, R.3
Rotta, J.4
Hall, J.G.5
Hecht, J.T.6
-
18
-
-
0031051185
-
Germline and somatic mosaicism in a female carrier of Hunter disease
-
Froissart R, Maire I, Bonnet V, Levade T, Bozon D (1997) Germline and somatic mosaicism in a female carrier of Hunter disease. J Med Genet 34:137-140
-
(1997)
J Med Genet
, vol.34
, pp. 137-140
-
-
Froissart, R.1
Maire, I.2
Bonnet, V.3
Levade, T.4
Bozon, D.5
-
19
-
-
0023730947
-
Maternal duplication associated with gene deletion in sporadic hemophilia
-
Gitschier J (1988) Maternal duplication associated with gene deletion in sporadic hemophilia. Am J Hum Genet 43:274-279
-
(1988)
Am J Hum Genet
, vol.43
, pp. 274-279
-
-
Gitschier, J.1
-
20
-
-
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
-
21
-
-
0027429123
-
Genetics of facioscapulohumeral muscular dystrophy: New mutations in sporadic cases
-
Griggs RC, Tawil R, Storvick D, Mendell JR, Altherr MR (1993) Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases. Neurology 43:2369-2372
-
(1993)
Neurology
, vol.43
, pp. 2369-2372
-
-
Griggs, R.C.1
Tawil, R.2
Storvick, D.3
Mendell, J.R.4
Altherr, M.R.5
-
22
-
-
0023754181
-
Somatic mosaicism: Observations related to clinical genetics
-
Hall JG (1988) Somatic mosaicism: observations related to clinical genetics. Am J Hum Genet 43:355-363
-
(1988)
Am J Hum Genet
, vol.43
, pp. 355-363
-
-
Hall, J.G.1
-
23
-
-
0029848632
-
Absence of somatic mosaicism in 17 families with hemophilia B: An analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels
-
Knoll A, Ketterling RP, Sommer SS (1996) Absence of somatic mosaicism in 17 families with hemophilia B: an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels. Hum Genet 98:539-545
-
(1996)
Hum Genet
, vol.98
, pp. 539-545
-
-
Knoll, A.1
Ketterling, R.P.2
Sommer, S.S.3
-
24
-
-
0029791312
-
Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis
-
Kohler J, Rupilius B, Otto M, Bathke K, Koch MC (1996) Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis. Hum Genet 98:485-490
-
(1996)
Hum Genet
, vol.98
, pp. 485-490
-
-
Kohler, J.1
Rupilius, B.2
Otto, M.3
Bathke, K.4
Koch, M.C.5
-
25
-
-
0028848110
-
Molecular characterization of the breackpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism
-
Lazaro C, Gaona A, Lynch M, Kruyer H, Ravella A, Estevill X (1995) Molecular characterization of the breackpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. Am J Hum Genet 57:1044-1049
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1044-1049
-
-
Lazaro, C.1
Gaona, A.2
Lynch, M.3
Kruyer, H.4
Ravella, A.5
Estevill, X.6
-
28
-
-
0029665663
-
Gly802Asp substitution in the pro α (1) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism
-
Lund AM, Schwartz M, Raghunath M, Steinmann B, Skovby F (1996) Gly802Asp substitution in the pro α (1) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. Eur J Hum Genet 4:39-45
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 39-45
-
-
Lund, A.M.1
Schwartz, M.2
Raghunath, M.3
Steinmann, B.4
Skovby, F.5
-
29
-
-
0029983638
-
Exclusive paternal origin of new mutations in Apert syndrome
-
Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie OM (1996) Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 13:48-53
-
(1996)
Nat Genet
, vol.13
, pp. 48-53
-
-
Moloney, D.M.1
Slaney, S.F.2
Oldridge, M.3
Wall, S.A.4
Sahlin, P.5
Stenman, G.6
Wilkie, O.M.7
-
30
-
-
0029065101
-
Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862Ser substitution in a type 1 collagen gene (COL1A1)
-
Namikawa C, Suzumori K, Fukushima Y, Sasaki M, Hata A (1995) Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862Ser substitution in a type 1 collagen gene (COL1A1). Hum Genet 95:666-670
-
(1995)
Hum Genet
, vol.95
, pp. 666-670
-
-
Namikawa, C.1
Suzumori, K.2
Fukushima, Y.3
Sasaki, M.4
Hata, A.5
-
31
-
-
0028135470
-
Genetic and clinical mosaicism in a type of epidermal nevus
-
Paller AS, Syder AJ, Chan Y-M, Yu Q-C, Hutton E, Tadini G, Fuchs E (1994) Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med 331:1408-1415
-
(1994)
N Engl J Med
, vol.331
, pp. 1408-1415
-
-
Paller, A.S.1
Syder, A.J.2
Chan, Y.-M.3
Yu, Q.-C.4
Hutton, E.5
Tadini, G.6
Fuchs, E.7
-
32
-
-
0026781879
-
Different mosiacism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate differences in etiology and recurrence risk
-
Passos-Bueno MR, Bakker E, Kneppers ALJ, Takata RI, Rapaport D, Den Dunnen JT, Zatz M, Ommen GJB van (1992) Different mosiacism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate differences in etiology and recurrence risk. Am J Hum Genet 51:1150-1155
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1150-1155
-
-
Passos-Bueno, M.R.1
Bakker, E.2
Kneppers, A.L.J.3
Takata, R.I.4
Rapaport, D.5
Den Dunnen, J.T.6
Zatz, M.7
Van Ommen, G.J.B.8
-
33
-
-
0028847795
-
Female germ line mosaicism as the origin of a unique IL-2 receptor γ-chain mutation causing X-linked severe combined immunodeficiency
-
Puck JM, Pepper AE, Bedard P-M, Laframboise R (1995) Female germ line mosaicism as the origin of a unique IL-2 receptor γ-chain mutation causing X-linked severe combined immunodeficiency. J Clin Invest 95:895-899
-
(1995)
J Clin Invest
, vol.95
, pp. 895-899
-
-
Puck, J.M.1
Pepper, A.E.2
Bedard, P.-M.3
Laframboise, R.4
-
34
-
-
0030903774
-
Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts
-
Putnam EA, Park E-S, Aalfs CM, Hennekam RCM, Milewicz DM (1997) Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. Am J Hum Genet 60:818-827
-
(1997)
Am J Hum Genet
, vol.60
, pp. 818-827
-
-
Putnam, E.A.1
Park, E.-S.2
Aalfs, C.M.3
Hennekam, R.C.M.4
Milewicz, D.M.5
-
35
-
-
0028837036
-
Genetic counselling on brittle grounds: Recurring osteogeneis imperfecta due to parental mosaicism for a dominant mutation
-
Raghunath M, Mackay K, Dalgleish R, Steinnmann B (1995) Genetic counselling on brittle grounds: recurring osteogeneis imperfecta due to parental mosaicism for a dominant mutation. Eur J Pediatr 154:123-129
-
(1995)
Eur J Pediatr
, vol.154
, pp. 123-129
-
-
Raghunath, M.1
Mackay, K.2
Dalgleish, R.3
Steinnmann, B.4
-
37
-
-
0031018680
-
Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and medullary thyroid carcinoma
-
Schuffenecker I, Ginet N, Goldgar D, Eng C, Chambe B, Boneu A, Houdent C, Pallo D, Schlumberger M, Thivolet C, Lenoir GM (1997) Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and medullary thyroid carcinoma. Am J Hum Genet 60:233-237
-
(1997)
Am J Hum Genet
, vol.60
, pp. 233-237
-
-
Schuffenecker, I.1
Ginet, N.2
Goldgar, D.3
Eng, C.4
Chambe, B.5
Boneu, A.6
Houdent, C.7
Pallo, D.8
Schlumberger, M.9
Thivolet, C.10
Lenoir, G.M.11
-
38
-
-
0342584915
-
Frequent somatic and germline mosaicism in retinoblastoma: Relevance to genetic counseling
-
Sippel KC, Fraioli RE, Smith GD, Schalkoff ME, Dryja TP (1997) Frequent somatic and germline mosaicism in retinoblastoma: relevance to genetic counseling. Am J Hum Genet 61:A16
-
(1997)
Am J Hum Genet
, vol.61
-
-
Sippel, K.C.1
Fraioli, R.E.2
Smith, G.D.3
Schalkoff, M.E.4
Dryja, T.P.5
-
39
-
-
0029790560
-
The factor IX gene as a model for analysis of human germline mutations: An update
-
Sommer SS, Ketterling RP (1996) The factor IX gene as a model for analysis of human germline mutations: an update. Hum Mol Genet 5:1505-1514
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1505-1514
-
-
Sommer, S.S.1
Ketterling, R.P.2
-
40
-
-
0028823985
-
Germline mosaicism in a female who seemed to be a carrier by sequence analysis
-
Sommer SS, Knoll 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
Knoll, A.2
Greenberg, C.R.3
Ketterling, R.P.4
-
41
-
-
0022549490
-
Retroviruses as probes for mammalian development: Allocation of cells to the somatic and germ cell lineages
-
Soriano P, Jaenisch R (1986) Retroviruses as probes for mammalian development: allocation of cells to the somatic and germ cell lineages. Cell 46:19-29
-
(1986)
Cell
, vol.46
, pp. 19-29
-
-
Soriano, P.1
Jaenisch, R.2
-
42
-
-
0028924820
-
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia
-
Stoilov I, Kilpatrick MW, Tsipouras P (1995) A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. Am J Med Genet 55:127-133
-
(1995)
Am J Med Genet
, vol.55
, pp. 127-133
-
-
Stoilov, I.1
Kilpatrick, M.W.2
Tsipouras, P.3
-
43
-
-
0000396174
-
The achondroplasia mutation occurs exclusively on the paternally derived fibroblast growth factor receptor 3 (FGFR3) allele
-
Szabo JK, Wilkin DJ, Cameron R, Henderson S, Bellus G, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA (1997) The achondroplasia mutation occurs exclusively on the paternally derived fibroblast growth factor receptor 3 (FGFR3) allele. Am J Hum Genet 61:A348
-
(1997)
Am J Hum Genet
, vol.61
-
-
Szabo, J.K.1
Wilkin, D.J.2
Cameron, R.3
Henderson, S.4
Bellus, G.5
Kaitila, I.6
Loughlin, J.7
Munnich, A.8
Sykes, B.9
Bonaventure, J.10
Francomano, C.A.11
-
44
-
-
0025960560
-
Somatic mosaicism and female to female transmition in a kindred with hemophilia B (factor IX deficiency)
-
Taylor SAM, Deugau KV, Lillicrap DP (1991) Somatic mosaicism and female to female transmition 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
-
45
-
-
0028797643
-
Somatic mosaicism and clinical variation in tuberous sclerosis complex
-
Verhoef S, Vrtel R, Essen T van, Bakker L, Sikkens E, Halley D, Lindhout D, Ouweland A van den (1995) Somatic mosaicism and clinical variation in tuberous sclerosis complex. Lancet 345:202
-
(1995)
Lancet
, vol.345
, pp. 202
-
-
Verhoef, S.1
Vrtel, R.2
Van Essen, T.3
Bakker, L.4
Sikkens, E.5
Halley, D.6
Lindhout, D.7
Van den Ouweland, A.8
-
46
-
-
0026546957
-
Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy
-
Voit T, Neuen-Jacob E, Mahler V, Jauch A, Cremer M (1992) Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy. Eur J Pediatr 151:112-116
-
(1992)
Eur J Pediatr
, vol.151
, pp. 112-116
-
-
Voit, T.1
Neuen-Jacob, E.2
Mahler, V.3
Jauch, A.4
Cremer, M.5
-
47
-
-
0028826887
-
Germ cells mosaicism for an alanine to valine substitution at residue 140 in hemoglobin Puttelange, a new variant with high oxygen affinity
-
Wajcman H, Girodon E, Prome D, North ML, Plassa F, Duwig I, Kister J, Bergerat JP, Oberling F, Lampert E, Lonsdorfer J, Goossens M, Galacteros F (1995) Germ cells mosaicism for an alanine to valine substitution at residue 140 in hemoglobin Puttelange, a new variant with high oxygen affinity. Hum Genet 96:711-716
-
(1995)
Hum Genet
, vol.96
, pp. 711-716
-
-
Wajcman, H.1
Girodon, E.2
Prome, D.3
North, M.L.4
Plassa, F.5
Duwig, I.6
Kister, J.7
Bergerat, J.P.8
Oberling, F.9
Lampert, E.10
Lonsdorfer, J.11
Goossens, M.12
Galacteros, F.13
-
48
-
-
0025276737
-
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the 1α (1) gene (COL1A1) of type I collagen in a parent
-
Wallis GA, Starman B, 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 1α (1) gene (COL1A1) 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.2
Zinn, A.B.3
Byers, P.H.4
-
49
-
-
0027300285
-
Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events
-
Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR, Schultz P, Olandt S, Frants RR, Periak-Vance M, Griggs RC (1993) Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events. Nat Genet 4:165-169
-
(1993)
Nat Genet
, vol.4
, pp. 165-169
-
-
Weiffenbach, B.1
Dubois, J.2
Storvick, D.3
Tawil, R.4
Jacobsen, S.J.5
Gilbert, J.6
Wijmenga, C.7
Mendell, J.R.8
Winokur, S.9
Altherr, M.R.10
Schultz, P.11
Olandt, S.12
Frants, R.R.13
Periak-Vance, M.14
Griggs, R.C.15
-
50
-
-
0028330207
-
Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family
-
Wilton SD, Chandler DC, Kakulas BA, Laing NG (1994) Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. Hum Mutat 3:133-140
-
(1994)
Hum Mutat
, vol.3
, pp. 133-140
-
-
Wilton, S.D.1
Chandler, D.C.2
Kakulas, B.A.3
Laing, N.G.4
-
51
-
-
0027471786
-
Kniest and Stickler dysplasia phenotypes caused by collagen II gene (CLO2A1) defect
-
Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel B (1993) Kniest and Stickler dysplasia phenotypes caused by collagen II gene (CLO2A1) defect. Nat Genet 3:323-326
-
(1993)
Nat Genet
, vol.3
, pp. 323-326
-
-
Winterpacht, A.1
Hilbert, M.2
Schwarze, U.3
Mundlos, S.4
Spranger, J.5
Zabel, B.6
-
52
-
-
0027940314
-
Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation
-
Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel B (1994) Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation. Hum Mutat 4: 257-262
-
(1994)
Hum Mutat
, vol.4
, pp. 257-262
-
-
Winterpacht, A.1
Hilbert, M.2
Schwarze, U.3
Mundlos, S.4
Spranger, J.5
Zabel, B.6
-
53
-
-
0030772273
-
Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis
-
Yates JRW, Bakel I van, Sepp T, Payne SJ, Webb DW, Nevin NC, Green AJ (1997) Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet 6:2265-2269
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2265-2269
-
-
Yates, J.R.W.1
Van Bakel, I.2
Sepp, T.3
Payne, S.J.4
Webb, D.W.5
Nevin, N.C.6
Green, A.J.7
-
54
-
-
0027480862
-
Mutations in von Recklinghausen neurofibromatosis
-
Zlotogora J (1993) Mutations in von Recklinghausen neurofibromatosis. Am J Med Genet 46:182-184
-
(1993)
Am J Med Genet
, vol.46
, pp. 182-184
-
-
Zlotogora, J.1
|