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Results: 1-18 |
Results: 18
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
HIGH-FREQUENCY OF DE-NOVO MUTATIONS IN ANKYRIN GENE (ANK1) IN CHILDREN WITH HEREDITARY SPHEROCYTOSIS
Authors: DELGIUDICE EM FRANCESE M NOBILI B MORLE L CUTILLO S DELAUNAY J PERROTTA S
Citation: Em. Delgiudice et al., HIGH-FREQUENCY OF DE-NOVO MUTATIONS IN ANKYRIN GENE (ANK1) IN CHILDREN WITH HEREDITARY SPHEROCYTOSIS, The Journal of pediatrics, 132(1), 1998, pp. 117-120
A LARGE DELETION WITHIN THE PROTEIN-4.1 GENE ASSOCIATED WITH A STABLETRUNCATED MESSENGER-RNA AND AN UNALTERED TISSUE-SPECIFIC ALTERNATIVE SPLICING
Authors: DALLAVENEZIA N MAILLET P MORLE L RODA L DELAUNAY J BAKLOUTI F
Citation: N. Dallavenezia et al., A LARGE DELETION WITHIN THE PROTEIN-4.1 GENE ASSOCIATED WITH A STABLETRUNCATED MESSENGER-RNA AND AN UNALTERED TISSUE-SPECIFIC ALTERNATIVE SPLICING, Blood, 91(11), 1998, pp. 4361-4367
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
FREQUENT DE-NOVO MUTATIONS OF THE ANK1 GENE MIMIC A RECESSIVE MODE OFTRANSMISSION IN HEREDITARY SPHEROCYTOSIS - 3 NEW ANK1 VARIANTS - ANKYRINS-BARI, NAPOLI-II AND ANZIO
Authors: RANDON J DELGIUDICE EM BOZON M PERROTTA S DEVIVO M IOLASCON A DELAUNAY J MORLE L
Citation: J. Randon et al., FREQUENT DE-NOVO MUTATIONS OF THE ANK1 GENE MIMIC A RECESSIVE MODE OFTRANSMISSION IN HEREDITARY SPHEROCYTOSIS - 3 NEW ANK1 VARIANTS - ANKYRINS-BARI, NAPOLI-II AND ANZIO, British Journal of Haematology, 96(3), 1997, pp. 500-506
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
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
A POINT MUTATION IN THE PROTEIN-4.2 GENE (ALLELE-4.2 TOZEUR) ASSOCIATED WITH HEREDITARY HEMOLYTIC-ANEMIA
Authors: HAYETTE S MORLE L BOZON M GHANEM A RISINGER M KORSGREN C TANNER MJA FATTOUM S COHEN CM DELAUNAY J
Citation: S. Hayette et al., A POINT MUTATION IN THE PROTEIN-4.2 GENE (ALLELE-4.2 TOZEUR) ASSOCIATED WITH HEREDITARY HEMOLYTIC-ANEMIA, British Journal of Haematology, 89(4), 1995, pp. 762-770
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
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
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
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
BAND-3 COIMBRA - A VARIANT ASSOCIATED WITH DOMINANT HEREDITARY SPHEROCYTOSIS AND BAND-3 DEFICIENCY
Authors: ALLOISIO N TEXIER P FORISSIER A RIBEIRO ML MORLE L BOZON M BURSAUX E MAILLET P TANNER MJA TAMAGNINI G DELAUNAY J
Citation: N. Alloisio et al., BAND-3 COIMBRA - A VARIANT ASSOCIATED WITH DOMINANT HEREDITARY SPHEROCYTOSIS AND BAND-3 DEFICIENCY, Blood, 82(10), 1993, pp. 10000004-10000004
Risultati: 1-18 |