-
1
-
-
0008602298
-
Molecular genetics of haemophilia A and B
-
Bloom AL, Forbes CD, Thomas DP, Tuddenham EGD, eds. Edinburgh: Churchill Livingstone
-
Tuddenham EGD, Giannelli F. Molecular genetics of haemophilia A and B. In: Bloom AL, Forbes CD, Thomas DP, Tuddenham EGD, eds. Haemostasis and Thrombosis, 3rd edn. Edinburgh: Churchill Livingstone, 1994, 859-86.
-
(1994)
Haemostasis and Thrombosis, 3rd Edn.
, pp. 859-886
-
-
Tuddenham, E.G.D.1
Giannelli, F.2
-
2
-
-
77951509701
-
The rate of spontaneous mutation of a human gene
-
Haldane JBS. The rate of spontaneous mutation of a human gene. J Genet 1935; 31: 317-26.
-
(1935)
J Genet
, vol.31
, pp. 317-326
-
-
Haldane, J.B.S.1
-
4
-
-
0028857347
-
The hemophilias
-
Hall JC, Dunlop JC, Friedmann T, Giannelli F, eds. San Diego: Academic Press
-
Green PM, Naylor JA, Giannelli F. The hemophilias. In: Hall JC, Dunlop JC, Friedmann T, Giannelli F, eds. Advances in Genetics, Vol. 32. San Diego: Academic Press, 1995, 99-139.
-
(1995)
Advances in Genetics
, vol.32
, pp. 99-139
-
-
Green, P.M.1
Naylor, J.A.2
Giannelli, F.3
-
5
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
6
-
-
0023277545
-
Single-step method of RNA extraction by acid guanidium thiocyanate-phenol-chloroform extraction
-
Chomczynski P, Sacchi N. Single-step method of RNA extraction by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biohem 1987; 162: 156-9.
-
(1987)
Anal Biohem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
7
-
-
0025978384
-
Detection of three novel mutations in two haemophilia A patients by rapidly screening whole essential regions of the factor VIII gene
-
Naylor JA, Green PM, Montandon AJ, Rizza CR, Giannelli F. Detection of three novel mutations in two haemophilia A patients by rapidly screening whole essential regions of the factor VIII gene. Lancet 1991; 337: 635-9.
-
(1991)
Lancet
, vol.337
, pp. 635-639
-
-
Naylor, J.A.1
Green, P.M.2
Montandon, A.J.3
Rizza, C.R.4
Giannelli, F.5
-
8
-
-
0024605060
-
Direct detection of point mutations by mismatch analysis: Application to haemophilia B
-
Montandon AJ, Green PM, Giannelli F, Bentley DR. Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucl Acids Res 1989; 17: 3347-58.
-
(1989)
Nucl Acids Res
, vol.17
, pp. 3347-3358
-
-
Montandon, A.J.1
Green, P.M.2
Giannelli, F.3
Bentley, D.R.4
-
9
-
-
0024432738
-
Molecular pathology of haemophilia B
-
Green PM, Bentley DR, Mibashan RS, Nilsson IM, Giannelli F. Molecular pathology of haemophilia B. EMBO J 1989; 8: 1067-72.
-
(1989)
EMBO J
, vol.8
, pp. 1067-1072
-
-
Green, P.M.1
Bentley, D.R.2
Mibashan, R.S.3
Nilsson, I.M.4
Giannelli, F.5
-
11
-
-
0027520025
-
Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A
-
Lackich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A. Nature Genet 1993; 5: 236-41.
-
(1993)
Nature Genet
, vol.5
, pp. 236-241
-
-
Lackich, D.1
Kazazian, H.H.2
Antonarakis, S.E.3
Gitschier, J.4
-
12
-
-
0027340359
-
Analysis of factor VIII mRNA reveals defects in every one of 28 haemophilia A patients
-
Naylor JA, Green PM, Rizza CR, Giannelli F. Analysis of factor VIII mRNA reveals defects in every one of 28 haemophilia A patients. Hum Mol Genet 1993; 2: 11-7.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 11-17
-
-
Naylor, J.A.1
Green, P.M.2
Rizza, C.R.3
Giannelli, F.4
-
13
-
-
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. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 1773-8.
-
(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
-
14
-
-
0029047999
-
Investigation of the factor VIII intron 22 repeated region (int 22h) and the associated inversion junctions
-
Naylor JA, Buck D, Green P, Williamson H, Bentley D, Giannelli F. Investigation of the factor VIII intron 22 repeated region (int 22h) and the associated inversion junctions. Hum Mol Genet 1995; 4: 1217-24.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1217-1224
-
-
Naylor, J.A.1
Buck, D.2
Green, P.3
Williamson, H.4
Bentley, D.5
Giannelli, F.6
-
15
-
-
0029095603
-
Factor VIII gene inversions in severe hemophilia A: Results of an international consortium study
-
Antonarakis SE, Rossiter JP, Young M, et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 1995; 86: 2206-12.
-
(1995)
Blood
, vol.86
, pp. 2206-2212
-
-
Antonarakis, S.E.1
Rossiter, J.P.2
Young, M.3
-
16
-
-
0028031538
-
Haemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition
-
Tuddenham EGD, Schwaab R, Seehafer J, et al. Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucl Acids Res 1994; 22: 4851-68.
-
(1994)
Nucl Acids Res
, vol.22
, pp. 4851-4868
-
-
Tuddenham, E.G.D.1
Schwaab, R.2
Seehafer, J.3
-
17
-
-
0029979389
-
A genetic view on the etiology of the inhibitor complication
-
Giannelli F, Green PM, Naylor JA. A genetic view on the etiology of the inhibitor complication. Blood 1996; 87: 2612.
-
(1996)
Blood
, vol.87
, pp. 2612
-
-
Giannelli, F.1
Green, P.M.2
Naylor, J.A.3
-
18
-
-
0021677942
-
Structure of human factor VIII
-
Vehar GA, Keyt B, Eaton D, et al. Structure of human factor VIII. Nature 1984; 312: 337-47.
-
(1984)
Nature
, vol.312
, pp. 337-347
-
-
Vehar, G.A.1
Keyt, B.2
Eaton, D.3
-
19
-
-
0023918199
-
Blood coagulation factors V and VIII: Structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders
-
Kane WH, Davie EW. Blood coagulation factors V and VIII: structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders. Blood 1988; 71: 539-55.
-
(1988)
Blood
, vol.71
, pp. 539-555
-
-
Kane, W.H.1
Davie, E.W.2
-
20
-
-
0026664109
-
Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and the ratio of the sex-specific mutation rates in Sweden
-
Montandon AJ, Green PM, Bentley DR, et al. Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and the ratio of the sex-specific mutation rates in Sweden. Hum Genet 1992; 89: 319-22.
-
(1992)
Hum Genet
, vol.89
, pp. 319-322
-
-
Montandon, A.J.1
Green, P.M.2
Bentley, D.R.3
-
21
-
-
0027405870
-
Germ-line origins of mutation in families with haemophilia B: The sex ratio varies with the type of mutations
-
Ketterling RP, Vielhaber E, Bottema CDK, et al. Germ-line origins of mutation in families with haemophilia B: the sex ratio varies with the type of mutations. Am J Hum Genet 1993; 52: 156-66.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 156-166
-
-
Ketterling, R.P.1
Vielhaber, E.2
Bottema, C.D.K.3
-
22
-
-
0028180964
-
Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells
-
Rossiter JP, Young M, Kinberland ML, et al. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 1994; 3: 1035-39.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1035-1039
-
-
Rossiter, J.P.1
Young, M.2
Kinberland, M.L.3
-
23
-
-
0029865410
-
Characterisation of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutations frequencies
-
Becker J, Schwaab R, Möller-Taube A, et al. Characterisation of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutations frequencies. Am J Hum Genet 1996; 58: 657-70.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 657-670
-
-
Becker, J.1
Schwaab, R.2
Möller-Taube, A.3
|