-
1
-
-
0024313863
-
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations
-
Bakker E, Veenema H, Den Dunnen 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
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
-
2
-
-
0020002205
-
An autoradiographic analysis of tissue potency in different regions of the embryonic ectoderm during gastrulation in the mouse
-
Beddington R (1982) An autoradiographic analysis of tissue potency in different regions of the embryonic ectoderm during gastrulation in the mouse. J Embryol Exp Morphol 69:265-285
-
(1982)
J Embryol Exp Morphol
, vol.69
, pp. 265-285
-
-
Beddington, R.1
-
3
-
-
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 JF, Starman BJ, Schwartz 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, J.F.3
Starman, B.J.4
Schwartz, R.C.5
-
6
-
-
0028125980
-
Microdeletions in the factor IX gene: Three recurrences associated with a quasipalindromic sequence
-
Ketterling RP, Sommer SS (1994) Microdeletions in the factor IX gene: three recurrences associated with a quasipalindromic sequence. Hum Mol Genet 3:191-192
-
(1994)
Hum Mol Genet
, vol.3
, pp. 191-192
-
-
Ketterling, R.P.1
Sommer, S.S.2
-
7
-
-
0027405870
-
Germ-line 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) Germ-line 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
-
8
-
-
0028057992
-
The rates and patterns of deletions in the human factor IX gene
-
Ketterling RP, Vielhaber E, Lind TJ, Thorland EC, Sommer SS (1994) The rates 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.2
Lind, T.J.3
Thorland, E.C.4
Sommer, S.S.5
-
9
-
-
0026099668
-
Single nucleotide primer extension to detect genetic disease: Experimental application to hemophilia B (factor IX) and cystic fibrosis genes
-
Kuppuswamy M, Hoffmann JW, Kasper CK, Spitzer SG, Groce SL, Bajaj SP (1991) Single nucleotide primer extension to detect genetic disease: experimental application to hemophilia B (factor IX) and cystic fibrosis genes. Proc Natl Acad Sci USA 88:1143-1147
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 1143-1147
-
-
Kuppuswamy, M.1
Hoffmann, J.W.2
Kasper, C.K.3
Spitzer, S.G.4
Groce, S.L.5
Bajaj, S.P.6
-
10
-
-
0020644681
-
X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo
-
McMahon A, Fosten M, Monk M (1983a) X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo. J Embryol Exp Morphol 74:207-220
-
(1983)
J Embryol Exp Morphol
, vol.74
, pp. 207-220
-
-
McMahon, A.1
Fosten, M.2
Monk, M.3
-
11
-
-
0020644681
-
X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo
-
McMahon A, Fosten M, Monk M (1983b) X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo. J Embryol Exp Morphol 74:207-220
-
(1983)
J Embryol Exp Morphol
, vol.74
, pp. 207-220
-
-
McMahon, A.1
Fosten, M.2
Monk, M.3
-
12
-
-
0026593708
-
Differential termination of primer extension: A novel, quantifiable method for detection of point mutations
-
Picketts DJ, Cameron C, Taylor SAM, Deugau KV, Lillicrap DP (1992) Differential termination of primer extension: a novel, quantifiable method for detection of point mutations. Hum Genet 89:155-157
-
(1992)
Hum Genet
, vol.89
, pp. 155-157
-
-
Picketts, D.J.1
Cameron, C.2
Taylor, S.A.M.3
Deugau, K.V.4
Lillicrap, D.P.5
-
13
-
-
0025066571
-
More light on PCR contamination
-
Sarkar G, Sommer SS (1990a) More light on PCR contamination. Nature 347:340-341
-
(1990)
Nature
, vol.347
, pp. 340-341
-
-
Sarkar, G.1
Sommer, S.S.2
-
14
-
-
0025056496
-
Shedding light on PCR contamination
-
Sarkar G, Sommer SS (1990b) Shedding light on PCR contamination. Nature 343:27
-
(1990)
Nature
, vol.343
, pp. 27
-
-
Sarkar, G.1
Sommer, S.S.2
-
15
-
-
0026817024
-
A sensitive, quantitative assay for measurement of allele-specific transcripts differing by a single nucleotide
-
Singer-Sam J, LeBon JM, Dai A, Riggs AD (1992) A sensitive, quantitative assay for measurement of allele-specific transcripts differing by a single nucleotide. PCR Methods Appl 1:160-163
-
(1992)
PCR Methods Appl
, vol.1
, pp. 160-163
-
-
Singer-Sam, J.1
LeBon, J.M.2
Dai, A.3
Riggs, A.D.4
-
16
-
-
0001610832
-
Proliferative centers in embryonic development
-
Johnson M (ed) Elsevier, Amsterdam
-
Snow MHL (1977) Proliferative centers in embryonic development. In: Johnson M (ed) Development in mammals. Elsevier, Amsterdam, pp 337-362
-
(1977)
Development in Mammals
, pp. 337-362
-
-
Snow, M.H.L.1
-
17
-
-
0019404023
-
Autonomous development of parts isolated from primitive-streak-stage mouse embryos. Is development clonal?
-
Snow MHL (1981) Autonomous development of parts isolated from primitive-streak-stage mouse embryos. Is development clonal? J Embryol Exp Morphol 65:269-287
-
(1981)
J Embryol Exp Morphol
, vol.65
, pp. 269-287
-
-
Snow, M.H.L.1
-
18
-
-
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, 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.5
Schowalter, D.B.6
Cassady, J.D.7
-
19
-
-
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
-
20
-
-
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
-
22
-
-
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
-
23
-
-
0026571472
-
Parental origin and germ-line 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, vanOmmen GB, Poncin JE, Scheffer H, Schwartz M, Speer A, Stuhrmann M, Verellen-Dumoulin C, Wilcox DE, tenKate LP (1992) Parental origin and germ-line 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
VanOmmen, G.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..
-
24
-
-
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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