-
2
-
-
0036190154
-
-
Hardison, R.C., Chui, D.H., Giardine, B., Riemer, C., Patrinos, G.P., Anagnou, N., Miller, W., Wajcman, H., Hb Var A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server, Hum. Mutat. 19 (2002) 225-233
-
Hardison, R.C., Chui, D.H., Giardine, B., Riemer, C., Patrinos, G.P., Anagnou, N., Miller, W., Wajcman, H., Hb Var A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server, Hum. Mutat. 19 (2002) 225-233 ( http://globin.cse.psu.edu ).
-
-
-
-
3
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak M., Cooper D.N. Gene deletions causing human genetic disease mechanisms of mutagenesis and the role of the local DNA sequence environment . Hum. Genet. 86:1991;425-441.
-
(1991)
Hum. Genet.
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
4
-
-
0025744705
-
Mechanism of insertional mutagenesis in human genes causing genetic disease
-
Cooper D.N., Krawczak M. Mechanism of insertional mutagenesis in human genes causing genetic disease. Hum Genet. 87:1991;409-415.
-
(1991)
Hum Genet.
, vol.87
, pp. 409-415
-
-
Cooper, D.N.1
Krawczak, M.2
-
5
-
-
0030996733
-
A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human α2-globin gene
-
Oron-Karni V., Filon D., Rund D., Oppenheim A. A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human α2-globin gene. Hum. Mol. Genet. 6:1997;881-885.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 881-885
-
-
Oron-Karni, V.1
Filon, D.2
Rund, D.3
Oppenheim, A.4
-
6
-
-
0023256559
-
Slipped-strand mispairing: A major mechanism for DNA sequence evolution
-
Levinson G., Gutman G.A. Slipped-strand mispairing a major mechanism for DNA sequence evolution . Mol. Biol. Evol. 4:1987;203-221.
-
(1987)
Mol. Biol. Evol.
, vol.4
, pp. 203-221
-
-
Levinson, G.1
Gutman, G.A.2
-
7
-
-
0034941754
-
Abnormal hemoglobins: The laboratory methods
-
Wajcman H., Préhu C., Bardakdjian-Michau J., Promé D., Riou J., Godart C., Mathis M., Hurtrel D., Galactéros F. Abnormal hemoglobins the laboratory methods . Hemoglobin. 25:2001;169-181.
-
(2001)
Hemoglobin
, vol.25
, pp. 169-181
-
-
Wajcman, H.1
Préhu, C.2
Bardakdjian-Michau, J.3
Promé, D.4
Riou, J.5
Godart, C.6
Mathis, M.7
Hurtrel, D.8
Galactéros, F.9
-
8
-
-
0042534187
-
Globin chain analysis by RP-HPLC: Recent developments
-
Wajcman H., Riou J., Yapo A.P. Globin chain analysis by RP-HPLC recent developments . Hemoglobin. 26:2002;281-294.
-
(2002)
Hemoglobin
, vol.26
, pp. 281-294
-
-
Wajcman, H.1
Riou, J.2
Yapo, A.P.3
-
11
-
-
0024847748
-
Hb Catonsville (glutamic acid inserted between Pro-37(C2)alpha and Thr-38(C3)alpha). Nonallelic gene conversion in the globin system?
-
Moo-Penn W.F., Swan D.C., Hine T.K., Baine R.M., Jue D.L., Benson J.M., Johnson M.H., Virshup D.M., Zinkham W.H. Hb Catonsville (glutamic acid inserted between Pro-37(C2)alpha and Thr-38(C3)alpha). Nonallelic gene conversion in the globin system? J. Biol. Chem. 264:1989;21454-21457.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 21454-21457
-
-
Moo-Penn, W.F.1
Swan, D.C.2
Hine, T.K.3
Baine, R.M.4
Jue, D.L.5
Benson, J.M.6
Johnson, M.H.7
Virshup, D.M.8
Zinkham, W.H.9
-
12
-
-
0033740265
-
Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb Heraklion, alpha1cd37(C2)Pro>0): Comparison to other alpha-thalassemic hemoglobinopathies
-
Traeger-Synodinos J., Papassotiriou I., Metaxotou-Mavrommati A., Vrettou C., Stamoulakatou A., Kanavakis E. Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb Heraklion, alpha1cd37(C2)Pro>0) comparison to other alpha-thalassemic hemoglobinopathies . Blood Cells Mol. Dis. 26:2000;276-284.
-
(2000)
Blood Cells Mol. Dis.
, vol.26
, pp. 276-284
-
-
Traeger-Synodinos, J.1
Papassotiriou, I.2
Metaxotou-Mavrommati, A.3
Vrettou, C.4
Stamoulakatou, A.5
Kanavakis, E.6
-
13
-
-
0028228875
-
Hb Taybe (alpha 38 or 39 THR deleted): An alpha-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygous
-
Galacteros F., Girodon E., M'Rad A., Martin J., Goossens M., Jaber L., Cohen I.J., Tamary H., Goshen Y., Zaizov R., Wajcman H. Hb Taybe (alpha 38 or 39 THR deleted) an alpha-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygous . C. R. Acad. Sci. Paris, III. 317:1994;437-444.
-
(1994)
C. R. Acad. Sci. Paris, III
, vol.317
, pp. 437-444
-
-
Galacteros, F.1
Girodon, E.2
M'Rad, A.3
Martin, J.4
Goossens, M.5
Jaber, L.6
Cohen, I.J.7
Tamary, H.8
Goshen, Y.9
Zaizov, R.10
Wajcman, H.11
-
14
-
-
0041532260
-
Hemoglobin Phnom Penh [α117Phe(H1)-Ile- α118Thr(H2)]: Evidence for a hotspot for insertion of residues in the third exon of the α-globin gene
-
Online
-
Wajcman H., Préhu M.O., Préhu C., Blouquit Y., Promé D., Galactéros F. Hemoglobin Phnom Penh [α 117Phe(H1)-Ile- α118Thr(H2)] evidence for a hotspot for insertion of residues in the third exon of the α-globin gene . Hum. Mutat. 1:(Suppl.):1997;S20-2. Online.
-
(1997)
Hum. Mutat.
, vol.1
, Issue.SUPPL.
, pp. 20-22
-
-
Wajcman, H.1
Préhu, M.O.2
Préhu, C.3
Blouquit, Y.4
Promé, D.5
Galactéros, F.6
-
15
-
-
0016272747
-
Hemoglobin Grady: The first example of a variant with elongated chains due to an insertion of residues
-
Huisman T.H., Wilson J.B., Gravely M., Hubbard M. Hemoglobin Grady the first example of a variant with elongated chains due to an insertion of residues . Proc. Natl. Acad. Sci. USA. 71:1974;3270-3273.
-
(1974)
Proc. Natl. Acad. Sci. USA
, vol.71
, pp. 3270-3273
-
-
Huisman, T.H.1
Wilson, J.B.2
Gravely, M.3
Hubbard, M.4
-
16
-
-
0026786423
-
Two new human hemoglobin variants due to rare mutational events: Hb Zaïre that contains a five residue repetition within the α-chain and Hb Duino that has two residues substituted in the β-chain
-
Wajcman H., Blouquit Y., Vasseur C., LeQuerrec A., Laniece M., Melevendi M., Rasore A., Galacteros F. Two new human hemoglobin variants due to rare mutational events Hb Zaïre that contains a five residue repetition within the α-chain and Hb Duino that has two residues substituted in the β-chain . Hum. Genet. 89:1992;676-680.
-
(1992)
Hum. Genet.
, vol.89
, pp. 676-680
-
-
Wajcman, H.1
Blouquit, Y.2
Vasseur, C.3
LeQuerrec, A.4
Laniece, M.5
Melevendi, M.6
Rasore, A.7
Galacteros, F.8
-
17
-
-
0029757377
-
Haemoglobin Lleida: A new alpha 2-globin variant (12 bp deletion) with mild thalassaemic phenotype
-
Ayala S., Colomer D., Pujades A., Aymerich M., Vives Corrons J.L. Haemoglobin Lleida a new alpha 2-globin variant (12 bp deletion) with mild thalassaemic phenotype . Br. J. Haematol. 94:1996;639-644.
-
(1996)
Br. J. Haematol.
, vol.94
, pp. 639-644
-
-
Ayala, S.1
Colomer, D.2
Pujades, A.3
Aymerich, M.4
Vives Corrons, J.L.5
-
18
-
-
0034559584
-
Hb Neuilly-sur-Marne a new human hemoglobin variant with Ser-Asp- Leu inserted between α86(F7)Leu and α87(F8)His: Characterization by high energy collision- induced dissociation liquid secondary ion mass spectrometry and low energy collision-induced dissociation tandem mass spectrometry in a ion trap fitted with a nanospray ionization source
-
Promé D., Promé J.C., Wajcman H., Riou J., Galactéros F., Carte N., Leize E., Vandorsselaer A. Hb Neuilly-sur-Marne a new human hemoglobin variant with Ser-Asp- Leu inserted between α86(F7)Leu and α87(F8)His characterization by high energy collision- induced dissociation liquid secondary ion mass spectrometry and low energy collision-induced dissociation tandem mass spectrometry in a ion trap fitted with a nanospray ionization source . Eur. Mass Spectrom. 6:2000;205-211.
-
(2000)
Eur. Mass Spectrom.
, vol.6
, pp. 205-211
-
-
Promé, D.1
Promé, J.C.2
Wajcman, H.3
Riou, J.4
Galactéros, F.5
Carte, N.6
Leize, E.7
Vandorsselaer, A.8
-
19
-
-
6844237646
-
Haemoglobin J-Biskra: A new mildly unstable alpha1 gene variant with a deletion of eight residues (alpha50-57, alpha51-58 or alpha52-59) including the distal histidine
-
Wajcman H., Dahmane M., Prehu C., Costes B., Prome D., Arous N., Bardakdjian-Michau J., Riou J., Ayache K.C., Godart C., Galacteros F. Haemoglobin J-Biskra a new mildly unstable alpha1 gene variant with a deletion of eight residues (alpha50-57, alpha51-58 or alpha52-59) including the distal histidine . Br. J. Haematol. 100:1998;401-406.
-
(1998)
Br. J. Haematol.
, vol.100
, pp. 401-406
-
-
Wajcman, H.1
Dahmane, M.2
Prehu, C.3
Costes, B.4
Prome, D.5
Arous, N.6
Bardakdjian-Michau, J.7
Riou, J.8
Ayache, K.C.9
Godart, C.10
Galacteros, F.11
-
20
-
-
0032241309
-
Alpha- thalassaemia due to a single codon deletion in the alphal-globin gene. Computational structural analysis of the new alpha-chain variant
-
Mutations in brief No. 132. Online
-
Ayala S., Colomer D., Gelpi J.L., Vives Corrons J.L. Alpha- thalassaemia due to a single codon deletion in the alphal-globin gene. Computational structural analysis of the new alpha-chain variant. Hum. Mutat. 11:1998;412. Mutations in brief No. 132. Online.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 412
-
-
Ayala, S.1
Colomer, D.2
Gelpi, J.L.3
Vives Corrons, J.L.4
-
21
-
-
0035543925
-
Hb Dartmouth [alpha 66(E15)Leu→Pro (alpha2) (CTG→CCG)]: A novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1
-
McBride K.L., Snow K., Kubik K.S., Fairbanks V.F., Hoyer J.D., Fairweather R.B., Chaffee S., Edwards W.H. Hb Dartmouth [alpha 66(E15)Leu→Pro (alpha2) (CTG→CCG)] a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1 . Hemoglobin. 25:2001;375-382.
-
(2001)
Hemoglobin
, vol.25
, pp. 375-382
-
-
McBride, K.L.1
Snow, K.2
Kubik, K.S.3
Fairbanks, V.F.4
Hoyer, J.D.5
Fairweather, R.B.6
Chaffee, S.7
Edwards, W.H.8
-
22
-
-
0032706015
-
Hb Aghia Sophia [alpha62(E11)Val→0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia
-
Traeger-Synodinos J., Harteveld C.L., Kanavakis E., Giordano P.C., Kattamis C., Bernini L.F. Hb Aghia Sophia [alpha62(E11)Val→0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia. Hemoglobin. 23:1999;317-324.
-
(1999)
Hemoglobin
, vol.23
, pp. 317-324
-
-
Traeger-Synodinos, J.1
Harteveld, C.L.2
Kanavakis, E.3
Giordano, P.C.4
Kattamis, C.5
Bernini, L.F.6
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