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Results: 1-19 |
Results: 19
THE MOLECULAR-SPECTRUM OF THALASSEMIA AND ABNORMAL-HEMOGLOBINS IN THEDUTCH POPULATION
Authors: GIORDANO PC BERNINI LF HARTEVELD CL HEISTER A BATELAAN D VANDELFT P PLUG R LOSEKOOT M
Citation: Pc. Giordano et al., THE MOLECULAR-SPECTRUM OF THALASSEMIA AND ABNORMAL-HEMOGLOBINS IN THEDUTCH POPULATION, European journal of human genetics, 6, 1998, pp. 3020-3020
A CASE OF NON-BETA-GLOBIN GENE LINKED BETA-THALASSEMIA IN A DUTCH FAMILY WITH 2 ADDITIONAL ALPHA-GENE DEFECTS - THE COMMON -ALPHA(3-CENTER-DOT-7) DELETION AND THE RARE IVS1-116 (A-]G) ACCEPTOR SPLICE-SITE MUTATION
Authors: GIORDANO PC HARTEVELD CL HAAK HL BATELAAN D VANDELFT P PLUG RJ EMONTS M ZANARDINI R BERNINI LF
Citation: Pc. Giordano et al., A CASE OF NON-BETA-GLOBIN GENE LINKED BETA-THALASSEMIA IN A DUTCH FAMILY WITH 2 ADDITIONAL ALPHA-GENE DEFECTS - THE COMMON -ALPHA(3-CENTER-DOT-7) DELETION AND THE RARE IVS1-116 (A-]G) ACCEPTOR SPLICE-SITE MUTATION, British Journal of Haematology, 103(2), 1998, pp. 370-376
BETA-THALASSEMIA, ALPHA-THALASSEMIA AND ABNORMAL-HEMOGLOBINS IN THE ALLOCHTHONOUS AND AUTOCHTHONOUS DUTCH POPULATION
Authors: GIORDANO PC HARTEVELD CL HEISTER JGAM BATELAAN D VANDELFT P PLUG R LOSEKOOT M BERNINI LF
Citation: Pc. Giordano et al., BETA-THALASSEMIA, ALPHA-THALASSEMIA AND ABNORMAL-HEMOGLOBINS IN THE ALLOCHTHONOUS AND AUTOCHTHONOUS DUTCH POPULATION, British Journal of Haematology, 102(1), 1998, pp. 49-49
A NOVEL SPLICE DONOR SITE MUTATION OF THE ALPHA(1)-GLOBIN GENE CAUSING ALPHA-THALASSEMIA
Authors: HARTEVELD CL GIORDANO PC VANDELFT P BATELAAN D BEYER C BERNINI LF
Citation: Cl. Harteveld et al., A NOVEL SPLICE DONOR SITE MUTATION OF THE ALPHA(1)-GLOBIN GENE CAUSING ALPHA-THALASSEMIA, British Journal of Haematology, 102(1), 1998, pp. 50-50
MULTICENTRIC ORIGIN OF HB CONSTANT SPRING [ALPHA(2) CODON-142 TAA-]CAA]
Authors: HARTEVELD CL TRAEGERSYNODINOS J RAGUSA A FICHERA M KATTAMIS C KANAVAKIS E GIORDANO P SCHILIRO A BERNINI LF
Citation: Cl. Harteveld et al., MULTICENTRIC ORIGIN OF HB CONSTANT SPRING [ALPHA(2) CODON-142 TAA-]CAA], British Journal of Haematology, 102(1), 1998, pp. 50-50
A COMPLEX HEMOGLOBINOPATHY DIAGNOSIS IN A FAMILY WITH BOTH BETA-THALASSEMIA AND ALPHA(0 +)-THALASSEMIA HOMOZYGOSITY/
Authors: GIORDANO PC HARTEVELD CL BOK V VANDELFT P BATELAAN D BRESLAUSIDERIUS EJ BERNINI LF
Citation: Pc. Giordano et al., A COMPLEX HEMOGLOBINOPATHY DIAGNOSIS IN A FAMILY WITH BOTH BETA-THALASSEMIA AND ALPHA(0 +)-THALASSEMIA HOMOZYGOSITY/, British Journal of Haematology, 102(1), 1998, pp. 51-51
GENOTYPE-PHENOTYPE CORRELATION OF DELETION AND NONDELETION ALPHA-THALASSEMIA
Authors: HARTEVELD CL GIORDANO PC ZANARDINI R VANDELFT P BATELAAN D BERNINI LF
Citation: Cl. Harteveld et al., GENOTYPE-PHENOTYPE CORRELATION OF DELETION AND NONDELETION ALPHA-THALASSEMIA, British Journal of Haematology, 102(1), 1998, pp. 52-52
ATYPICAL HBH-DISEASE IN A SURINAMESE PATIENT RESULTING FROM A COMBINATION OF THE -SEA-DELETION AND -ALPHA(3.7)-DELETION WITH HBC HETEROZYGOSITY
Authors: GIORDANO PC HARTEVELD CL MICHIELS JJ TERPSTRA W BATELAAN D VANDELFT P PLUG RJ VANDERWIELEN MJR LOSEKOOT M BERNINI LF
Citation: Pc. Giordano et al., ATYPICAL HBH-DISEASE IN A SURINAMESE PATIENT RESULTING FROM A COMBINATION OF THE -SEA-DELETION AND -ALPHA(3.7)-DELETION WITH HBC HETEROZYGOSITY, British Journal of Haematology, 96(4), 1997, pp. 801-805
HB NYKERK - A NEW DE-NOVO MUTATION AT CODONS-138 139 OF THE BETA-GLOBULIN GENE INDUCING SEVERE HEMOLYTIC-ANEMIA IN A DUTCH GIRL/
Authors: VANDENBERG HM BRUIN MCA HARTEVELD CL VANZWIETEN R GIORDANO PC
Citation: Hm. Vandenberg et al., HB NYKERK - A NEW DE-NOVO MUTATION AT CODONS-138 139 OF THE BETA-GLOBULIN GENE INDUCING SEVERE HEMOLYTIC-ANEMIA IN A DUTCH GIRL/, Blood, 90(10), 1997, pp. 554-554
HB MALMO [BETA-97(FG-4)HIS-]GLN] LEADING TO POLYCYTHEMIA IN A DUTCH FAMILY
Authors: GIORDANO PC HARTEVELD CL BRAND A WILLEMS LNA KLUINNELEMANS HC PLUG RJ BATELAAN DN BERNINI LF
Citation: Pc. Giordano et al., HB MALMO [BETA-97(FG-4)HIS-]GLN] LEADING TO POLYCYTHEMIA IN A DUTCH FAMILY, Annals of hematology, 73(4), 1996, pp. 183-188
CHARACTERIZATION AND LOCALIZATION OF THE MPROX1 GENE DIRECTLY UPSTREAM OF THE MOUSE ALPHA-GLOBIN GENE-CLUSTER - IDENTIFICATION OF A POLYMORPHIC DIRECT REPEAT IN THE 5'UTR
Authors: KIELMAN MF BARRADEAU S SMITS R HARTEVELD CL BERNINI LF
Citation: Mf. Kielman et al., CHARACTERIZATION AND LOCALIZATION OF THE MPROX1 GENE DIRECTLY UPSTREAM OF THE MOUSE ALPHA-GLOBIN GENE-CLUSTER - IDENTIFICATION OF A POLYMORPHIC DIRECT REPEAT IN THE 5'UTR, Mammalian genome, 7(12), 1996, pp. 877-880
A DUTCH FAMILY WITH HB ATLANTA [BETA-75(E19)LEU-]PRO]
Authors: AYGUN V VANZWIETEN R PRONKADMIRAAL CJ PONJEE GAE DEREGT J HARTEVELD CL GIORDANO PC ROOS D
Citation: V. Aygun et al., A DUTCH FAMILY WITH HB ATLANTA [BETA-75(E19)LEU-]PRO], Hemoglobin, 20(4), 1996, pp. 351-359
HB GOUDA [ALPHA-72(EF1)HIS-]GLN], A NEW SILENT ALPHA-CHAIN VARIANT
Authors: GIORDANO PC HARTEVELD CL KOK PJMJ GEENEN A BATELAAN D AMONS R BERNINI LF
Citation: Pc. Giordano et al., HB GOUDA [ALPHA-72(EF1)HIS-]GLN], A NEW SILENT ALPHA-CHAIN VARIANT, Hemoglobin, 20(1), 1996, pp. 21-29
AN IVS1-116 (A-]G) ACCEPTOR SPLICE-SITE MUTATION IN THE ALPHA(2) GLOBIN GENE CAUSING ALPHA(+) THALASSEMIA IN 2 DUTCH FAMILIES
Authors: HARTEVELD CL HEISTER JGAM GIORDANO PC BATELAAN D VONDELFT P HAAK HL
Citation: Cl. Harteveld et al., AN IVS1-116 (A-]G) ACCEPTOR SPLICE-SITE MUTATION IN THE ALPHA(2) GLOBIN GENE CAUSING ALPHA(+) THALASSEMIA IN 2 DUTCH FAMILIES, British Journal of Haematology, 95(3), 1996, pp. 461-466
HB UTRECHT [ALPHA(2)129(H12)LEU-]PRO], A NEW UNSTABLE ALPHA-2-CHAIN VARIANT ASSOCIATED WITH A MILD ALPHA-THALASSEMIC PHENOTYPE
Authors: HARTEVELD CL GIORDANO PC LOSEKOOT M HEISTER JGAM VANDELFT DBP BRUIN MCA BERNINI LF
Citation: Cl. Harteveld et al., HB UTRECHT [ALPHA(2)129(H12)LEU-]PRO], A NEW UNSTABLE ALPHA-2-CHAIN VARIANT ASSOCIATED WITH A MILD ALPHA-THALASSEMIC PHENOTYPE, British Journal of Haematology, 94(3), 1996, pp. 483-485
HETEROZYGOSITY FOR HBC [B6(A3)GLU-]LYS] COMBINED WITH THE ALPHA,- -,-THALASSEMIC GENOTYPE IN CREOLE PATIENT FROM SURINAM/
Authors: TERPSTRA W GIORDANO PC LOSEKOOT M HARTEVELD CL PLUG RJ VANDERWIELEN MJR BERNINI LF MICHIELS JJ
Citation: W. Terpstra et al., HETEROZYGOSITY FOR HBC [B6(A3)GLU-]LYS] COMBINED WITH THE ALPHA,- -,-THALASSEMIC GENOTYPE IN CREOLE PATIENT FROM SURINAM/, Blood, 86(10), 1995, pp. 2610-2610
MOLECULAR CHARACTERIZATION OF ALPHA-THALASSEMIAS IN THE NETHERLANDS
Authors: HARTEVELD CL LOSEKOOT M HEISTER JGAM GIORDANO PC STRENG H SPANINKS M BERNINI LF
Citation: Cl. Harteveld et al., MOLECULAR CHARACTERIZATION OF ALPHA-THALASSEMIAS IN THE NETHERLANDS, American journal of human genetics, 57(4), 1995, pp. 935-935
HB KURDISTAN [ALPHA-47(CE5)ASP-]TYR], A NEW ALPHA-CHAIN VARIANT IN COMBINATION WITH BETA-THALASSEMIA
Authors: GIORDANO PC HARTEVELD CL STRENG H OOSTERWIJK JC HEISTER JGAM AMONS R BERNINI LF
Citation: Pc. Giordano et al., HB KURDISTAN [ALPHA-47(CE5)ASP-]TYR], A NEW ALPHA-CHAIN VARIANT IN COMBINATION WITH BETA-THALASSEMIA, Hemoglobin, 18(1), 1994, pp. 11-18
A NOVEL POLYADENYLATION SIGNAL MUTATION IN THE ALPHA(2)-GLOBIN GENE CAUSING ALPHA-THALASSEMIA
Authors: HARTEVELD CL LOSEKOOT M HAAK H HEISTER JGAM GIORDANO PC BERNINI LF
Citation: Cl. Harteveld et al., A NOVEL POLYADENYLATION SIGNAL MUTATION IN THE ALPHA(2)-GLOBIN GENE CAUSING ALPHA-THALASSEMIA, British Journal of Haematology, 87(1), 1994, pp. 139-143
Risultati: 1-19 |