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Results: 1-25 | 26-28
Results: 1-25/28
HEREDITARY SPHEROCYTOSIS - FROM CLINICAL TO MOLECULAR DEFECTS
Authors: IOLASCON A DELGIUDICE EM PERROTTA S ALLOISIO N MORLE L DELAUNAY J
Citation: A. Iolascon et al., HEREDITARY SPHEROCYTOSIS - FROM CLINICAL TO MOLECULAR DEFECTS, Haematologica, 83(3), 1998, pp. 240-257
2 DISTINCT TRUNCATED VARIANTS OF ANKYRIN ASSOCIATED WITH HEREDITARY SPHEROCYTOSIS
Authors: HAYETTE S CARRE G BOZON M ALLOISIO N MAILLET P WILMOTTE R PASCAL O REYNAUD J REMAN O STEPHAN JL MORLE L DELAUNAY J
Citation: S. Hayette et al., 2 DISTINCT TRUNCATED VARIANTS OF ANKYRIN ASSOCIATED WITH HEREDITARY SPHEROCYTOSIS, American journal of hematology, 58(1), 1998, pp. 36-41
ANKYRIN BUGEY - A DE-NOVO DELETIONAL FRAMESHIFT VARIANT IN EXON-6 OF THE ANKYRIN GENE ASSOCIATED WITH SPHEROCYTOSIS
Authors: MORLE L BOZON M ALLOISIO N VALLIER A HAYETTE S PASCAL O MONIER D PHILIPPE N FORGET BG DELAUNAY J
Citation: L. Morle et al., ANKYRIN BUGEY - A DE-NOVO DELETIONAL FRAMESHIFT VARIANT IN EXON-6 OF THE ANKYRIN GENE ASSOCIATED WITH SPHEROCYTOSIS, American journal of hematology, 54(3), 1997, pp. 242-248
TOTAL ABSENCE OF PROTEIN-4.2 AND PARTIAL DEFICIENCY OF BAND-3 IN HEREDITARY SPHEROCYTOSIS
Authors: KANZAKI A HAYETTE S MORLE L INOUE F MATSUYAMA R INOUE T YAWATA A WADA H VALLIER A ALLOISIO N YAWATA Y DELAUNAY J
Citation: A. Kanzaki et al., TOTAL ABSENCE OF PROTEIN-4.2 AND PARTIAL DEFICIENCY OF BAND-3 IN HEREDITARY SPHEROCYTOSIS, British Journal of Haematology, 99(3), 1997, pp. 522-530
A VARIANT OF THE EPB3 GENE OF THE ANTI-LEPORE TYPE IN HEREDITARY SPHEROCYTOSIS
Authors: BIANCHI P ZANELLA A ALLOISIO N BAROSI G BREDI E PELISSERO G ZAPPA M VERCELLATI C BARONCIANI L DELAUNAY J SIRCHIA G
Citation: P. Bianchi et al., A VARIANT OF THE EPB3 GENE OF THE ANTI-LEPORE TYPE IN HEREDITARY SPHEROCYTOSIS, British Journal of Haematology, 98(2), 1997, pp. 283-288
NOVEL BAND-3 VARIANTS (BANDS 3-FOGGIA, NAPOLI-I AND NAPOLI-II) ASSOCIATED WITH HEREDITARY SPHEROCYTOSIS AND BAND-3 DEFICIENCY - STATUS OF THE D38A POLYMORPHISM WITHIN THE EPB3 LOCUS
Authors: DELGIUDICE EM VALLIER A MAILLET P PERROTTA S CUTILLO S IOLASCON A TANNER MJA DELAUNAY J ALLOISIO N
Citation: Em. Delgiudice et al., NOVEL BAND-3 VARIANTS (BANDS 3-FOGGIA, NAPOLI-I AND NAPOLI-II) ASSOCIATED WITH HEREDITARY SPHEROCYTOSIS AND BAND-3 DEFICIENCY - STATUS OF THE D38A POLYMORPHISM WITHIN THE EPB3 LOCUS, British Journal of Haematology, 96(1), 1997, pp. 70-76
HEREDITARY SPHEROCYTOSIS WITH TOTAL ABSENCE OF BAND-3 IN A BABY WITH MUTATION COIMBRA (V488M) IN THE HOMOZYGOUS STATE
Authors: RIBEIRO ML ALLOISIO N ALMEIDA H TEXIER P LEMOS C MIMOSO C MORLE L BEYCABET F RUDIGOZ RC DELAUNAY J TAMAGNINI G
Citation: Ml. Ribeiro et al., HEREDITARY SPHEROCYTOSIS WITH TOTAL ABSENCE OF BAND-3 IN A BABY WITH MUTATION COIMBRA (V488M) IN THE HOMOZYGOUS STATE, Blood, 90(10), 1997, pp. 1164-1164
MODULATION OF CLINICAL EXPRESSION AND BAND-3 DEFICIENCY IN HEREDITARYSPHEROCYTOSIS
Authors: ALLOISIO N TEXIER P VALLIER A RIBEIRO ML MORLE L BOZON M BURSAUX E MAILLET P GONCALVES P TANNER MJA TAMAGNINI G DELAUNAY J
Citation: N. Alloisio et al., MODULATION OF CLINICAL EXPRESSION AND BAND-3 DEFICIENCY IN HEREDITARYSPHEROCYTOSIS, Blood, 90(1), 1997, pp. 414-420
SPECTRIN MUTATIONS IN HEREDITARY ELLIPTOCYTOSIS AND HEREDITARY SPHEROCYTOSIS
Authors: MAILLET P ALLOISIO N MORLE L DELAUNAY J
Citation: P. Maillet et al., SPECTRIN MUTATIONS IN HEREDITARY ELLIPTOCYTOSIS AND HEREDITARY SPHEROCYTOSIS, Human mutation, 8(2), 1996, pp. 97-107
ANKYRIN-NAPOLI - A DE-NOVO DELETIONAL FRAMESHIFT MUTATION IN EXON-16 OF ANKYRIN GENE (ANK1) ASSOCIATED WITH SPHEROCYTOSIS
Authors: DELGIUDICE EM HAYETTE S BOZON M PERROTTA S ALLOISIO N VALLIER A IOLASCON A DELAUNAY T MORLE L
Citation: Em. Delgiudice et al., ANKYRIN-NAPOLI - A DE-NOVO DELETIONAL FRAMESHIFT MUTATION IN EXON-16 OF ANKYRIN GENE (ANK1) ASSOCIATED WITH SPHEROCYTOSIS, British Journal of Haematology, 93(4), 1996, pp. 828-834
HEREDITARY SPHEROCYTOSIS WITH BAND-3 DEFICIENCY - ASSOCIATION WITH A NONSENSE MUTATION OF THE BAND-3 GENE (ALLELE-LYON), AND AGGRAVATION BYA LOW-EXPRESSION ALLELE OCCURRING IN TRANS (ALLELE-GENAS)
Authors: ALLOISIO N MAILLET P CARRE G TEXIER P VALLIER A BAKLOUTI F PHILIPPE N DELAUNAY J
Citation: N. Alloisio et al., HEREDITARY SPHEROCYTOSIS WITH BAND-3 DEFICIENCY - ASSOCIATION WITH A NONSENSE MUTATION OF THE BAND-3 GENE (ALLELE-LYON), AND AGGRAVATION BYA LOW-EXPRESSION ALLELE OCCURRING IN TRANS (ALLELE-GENAS), Blood, 88(3), 1996, pp. 1062-1069
THE CISTERNAE DECORATING THE RED-BLOOD-CELL MEMBRANE IN CONGENITAL DYSERYTHROPOIETIC ANEMIA (TYPE-II) ORIGINATE FROM THE ENDOPLASMIC-RETICULUM
Authors: ALLOISIO N TEXIER P DENOROY L BERGER C DELGIUDICE EM PERROTTA S IOLASCON A GILSANZ F BERGER G GUICHARD J MASSE JM DEBILI N BRETONGORIUS J DELAUNAY J
Citation: N. Alloisio et al., THE CISTERNAE DECORATING THE RED-BLOOD-CELL MEMBRANE IN CONGENITAL DYSERYTHROPOIETIC ANEMIA (TYPE-II) ORIGINATE FROM THE ENDOPLASMIC-RETICULUM, Blood, 87(10), 1996, pp. 4433-4439
MOLECULAR-GENETICS OF HEREDITARY ELLIPTOCYTOSIS AND HEREDITARY SPHEROCYTOSIS
Authors: DELAUNAY J ALLOISIO N MORLE L BAKLOUTI F DALLAVENEZIA N MAILLET P WILMOTTE R
Citation: J. Delaunay et al., MOLECULAR-GENETICS OF HEREDITARY ELLIPTOCYTOSIS AND HEREDITARY SPHEROCYTOSIS, Annales de genetique, 39(4), 1996, pp. 209-221
THE QUIET YET DANGEROUS ALPHA(LELY) ALLEL E OF RED RED-CELL SPECTRIN
Authors: DELAUNAY J WILMOTTE R ALLOISIO N MARECHAL J
Citation: J. Delaunay et al., THE QUIET YET DANGEROUS ALPHA(LELY) ALLEL E OF RED RED-CELL SPECTRIN, MS. Medecine sciences, 11(5), 1995, pp. 752-754
BAND-3 CHUR - A VARIANT ASSOCIATED WITH BAND-3-DEFICIENT HEREDITARY SPHEROCYTOSIS AND SUBSTITUTION IN A HIGHLY CONSERVED POSITION OF TRANSMEMBRANE SEGMENT-11
Authors: MAILLET P VALLIER A REINHART WH WYSS EJ OTT P TEXIER P BAKLOUTI F TANNER MJA DELAUNAY J ALLOISIO N
Citation: P. Maillet et al., BAND-3 CHUR - A VARIANT ASSOCIATED WITH BAND-3-DEFICIENT HEREDITARY SPHEROCYTOSIS AND SUBSTITUTION IN A HIGHLY CONSERVED POSITION OF TRANSMEMBRANE SEGMENT-11, British Journal of Haematology, 91(4), 1995, pp. 804-810
HEREDITARY XEROCYTOSIS - A REPORT OF 6 UNRELATED SPANISH FAMILIES WITH LEAKY RED-CELL SYNDROME AND INCREASED HEAT-STABILITY OF THE ERYTHROCYTE-MEMBRANE
Authors: CORRONS JLV BESSON I AYMERICH M AYALA S ALLOISIO N DELAUNAY J GONZALEZ I MANRUBIA E
Citation: Jlv. Corrons et al., HEREDITARY XEROCYTOSIS - A REPORT OF 6 UNRELATED SPANISH FAMILIES WITH LEAKY RED-CELL SYNDROME AND INCREASED HEAT-STABILITY OF THE ERYTHROCYTE-MEMBRANE, British Journal of Haematology, 90(4), 1995, pp. 817-822
APPARENTLY RECESSIVE HEREDITARY SPHEROCYTOSIS ASSOCIATED WITH DE-NOVOFRAMESHIFT MUTATIONS OF THE ANKYRIN GENE (ANK1) - ALLELE BUGEY AND ALLELE NAPOLI
Authors: MORLE L DELGIUDICE EM BOZON M PERROTTA S HAYETTE S ALLOISIO N VALLIER A FORGET BG IOLASCON A DELAUNAY J
Citation: L. Morle et al., APPARENTLY RECESSIVE HEREDITARY SPHEROCYTOSIS ASSOCIATED WITH DE-NOVOFRAMESHIFT MUTATIONS OF THE ANKYRIN GENE (ANK1) - ALLELE BUGEY AND ALLELE NAPOLI, Blood, 86(10), 1995, pp. 1854-1854
BAND-3 MILANO - A LARGE (69BP) DUPLICATION OF THE ERYTHROCYTE BAND-3 GENE ASSOCIATED WITH DOMINANT HEREDITARY SPHEROCYTOSIS
Authors: BIANCHI P ZANELLA Z ALLOISIO N BAROSI G BREDI E PELISSERO G ZAPPA M VERCELLATI C BARONCIANI L DELAUNAY J SIRCHIA G
Citation: P. Bianchi et al., BAND-3 MILANO - A LARGE (69BP) DUPLICATION OF THE ERYTHROCYTE BAND-3 GENE ASSOCIATED WITH DOMINANT HEREDITARY SPHEROCYTOSIS, Blood, 86(10), 1995, pp. 1860-1860
BAND-3 FOGGIA AND BAND-3 NAPOLI - FRAMESHIFT MUTATIONS CAUSING HEREDITARY SPHEROCYTOSIS WITH BAND-3 DEFICIENCY
Authors: DELGIUDICE EM ALLOISIO N VALLIER A PERROTTA S CUTILLO S IOLASCON A DELAUNAY J
Citation: Em. Delgiudice et al., BAND-3 FOGGIA AND BAND-3 NAPOLI - FRAMESHIFT MUTATIONS CAUSING HEREDITARY SPHEROCYTOSIS WITH BAND-3 DEFICIENCY, Blood, 86(10), 1995, pp. 2510-2510
A DELETIONAL FRAMESHIFT MUTATION IN PROTEIN-4.2 GENE (ALLELE-4.2 LISBOA) ASSOCIATED WITH HEREDITARY HEMOLYTIC-ANEMIA
Authors: HAYETTE S DHERMY D DOSSANTOS ME BOZON M DRENCKHAHN D ALLOISIO N TEXIER P DELAUNAY J MORLE L
Citation: S. Hayette et al., A DELETIONAL FRAMESHIFT MUTATION IN PROTEIN-4.2 GENE (ALLELE-4.2 LISBOA) ASSOCIATED WITH HEREDITARY HEMOLYTIC-ANEMIA, Blood, 85(1), 1995, pp. 250-256
HEREDITARY ELLIPTOCYTOSIS ASSOCIATED WITH SPECTRIN LE PUY IN A JAPANESE FAMILY - ULTRASTRUCTURAL ASPECT OF THE RED-CELL SKELETON
Authors: MARECHAL J WADA H KOFFA T KANZAKI A WILMOTTE R IKOMA K YAWATA A INOUE T TAKANASHI K MIURA A ALLOISIO N DELAUNAY J YAWATA Y
Citation: J. Marechal et al., HEREDITARY ELLIPTOCYTOSIS ASSOCIATED WITH SPECTRIN LE PUY IN A JAPANESE FAMILY - ULTRASTRUCTURAL ASPECT OF THE RED-CELL SKELETON, European journal of haematology, 52(2), 1994, pp. 92-98
PROTEIN-4.1 DEFICIENCY ASSOCIATED WITH AN ALTERED BINDING TO THE SPECTRIN-ACTIN COMPLEX OF THE RED-CELL MEMBRANE SKELETON
Authors: LORENZO F DALLAVENEZIA N MORLE L BAKLOUTI F ALLOISIO N DUCLUZEAU MT RODA L LEFRANCOIS P DELAUNAY J
Citation: F. Lorenzo et al., PROTEIN-4.1 DEFICIENCY ASSOCIATED WITH AN ALTERED BINDING TO THE SPECTRIN-ACTIN COMPLEX OF THE RED-CELL MEMBRANE SKELETON, The Journal of clinical investigation, 94(4), 1994, pp. 1651-1656
MILD ELLIPTOCYTOSIS ASSOCIATED WITH THE ALPHA-34 ARG-]TRP MUTATION INSPECTRIN GENOVA (ALPHA(I 74))/
Authors: PERROTTA S DELGIUDICE EM ALLOISIO N SCIARRATTA G PINTO L DELAUNAY J CUTILLO S IOLASCON A
Citation: S. Perrotta et al., MILD ELLIPTOCYTOSIS ASSOCIATED WITH THE ALPHA-34 ARG-]TRP MUTATION INSPECTRIN GENOVA (ALPHA(I 74))/, Blood, 83(11), 1994, pp. 3346-3349
LOW EXPRESSION ALLELE-ALPHA(LELY) OF RED-CELL SPECTRIN IS ASSOCIATED WITH MUTATIONS IN EXON-40 (ALPHA(V 41)-POLYMORPHISM) AND INTRON-45 ANDWITH PARTIAL SKIPPING OF EXON-46/
Authors: WILMOTTE R MARECHAL J MORLE L BAKLOUTI F PHILIPPE N KASTALLY R KOTULA L DELAUNAY J ALLOISIO N
Citation: R. Wilmotte et al., LOW EXPRESSION ALLELE-ALPHA(LELY) OF RED-CELL SPECTRIN IS ASSOCIATED WITH MUTATIONS IN EXON-40 (ALPHA(V 41)-POLYMORPHISM) AND INTRON-45 ANDWITH PARTIAL SKIPPING OF EXON-46/, The Journal of clinical investigation, 91(5), 1993, pp. 2091-2096
ELLIPTOPOIKILOCYTOSIS ASSOCIATED WITH THE ALPHA-469 HIS -] PRO MUTATION IN SPECTRIN BARCELONA (ALPHA-I 50-46B)/
Authors: DALLAVENEZIA N ALLOISIO N FORISSIER A DENOROY L AYMERICH M VIVESCORRONS JL BESALDUCH J BESSON I DELAUNAY J
Citation: N. Dallavenezia et al., ELLIPTOPOIKILOCYTOSIS ASSOCIATED WITH THE ALPHA-469 HIS -] PRO MUTATION IN SPECTRIN BARCELONA (ALPHA-I 50-46B)/, Blood, 82(5), 1993, pp. 1661-1665
Risultati: 1-25 | 26-28