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Results: 1-20 |
Results: 20
CLINICAL AND GENETICS STUDIES IN FAMILIES WITH COLOBOMAS
Authors: BLIN H MILAZZO S ROCHETTE J TURUT P
Citation: H. Blin et al., CLINICAL AND GENETICS STUDIES IN FAMILIES WITH COLOBOMAS, Investigative ophthalmology & visual science, 38(4), 1997, pp. 5257-5257
ALPHA-THALASSEMIC HEMOGLOBINOPATHIES WITH BETA-THALASSEMIC BIOSYNTHESIS RATIOS
Authors: REES DC HO PJ WILLIAMSON D ROCHETTE J
Citation: Dc. Rees et al., ALPHA-THALASSEMIC HEMOGLOBINOPATHIES WITH BETA-THALASSEMIC BIOSYNTHESIS RATIOS, Blood, 90(10), 1997, pp. 2823-2823
GENETIC-HETEROGENEITY IN HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN
Authors: CRAIG JE ROCHETTE J SAMPIETRO M WILKIE AOM BARNETSON R HATTON CSR DEMENAIS F THEIN SL
Citation: Je. Craig et al., GENETIC-HETEROGENEITY IN HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, Blood, 90(1), 1997, pp. 428-434
FAMILIAR INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS (ICCA) - A NEW NEUROLOGICAL SYNDROME LINKED TO THE PERICENTROMERIC REGION OF HUMAN-CHROMOSOME-16
Authors: SZEPETOWSKI P ROCHETTE J BERQUIN P DOLHEM P PIUSSAN C LATHROP GM MONACO AP
Citation: P. Szepetowski et al., FAMILIAR INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS (ICCA) - A NEW NEUROLOGICAL SYNDROME LINKED TO THE PERICENTROMERIC REGION OF HUMAN-CHROMOSOME-16, American journal of human genetics, 61(4), 1997, pp. 146-146
INFANTILE BENIGN CONVULSIONS AND CHOREOATHETOSIS - THE ICCA SYNDROME
Authors: ROCHETTE J SZEPETOWSKI P BERQUIN P DOLHEM P MATHIEU M MONACO AP PIUSSAN C
Citation: J. Rochette et al., INFANTILE BENIGN CONVULSIONS AND CHOREOATHETOSIS - THE ICCA SYNDROME, American journal of human genetics, 61(4), 1997, pp. 622-622
FAMILIAL INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS - A NEWNEUROLOGICAL SYNDROME LINKED TO THE PERICENTROMERIC REGION OF HUMAN-CHROMOSOME-16
Authors: SZEPETOWSKI P ROCHETTE J BERQUIN P PIUSSAN C LATHROP GM MONACO AP
Citation: P. Szepetowski et al., FAMILIAL INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS - A NEWNEUROLOGICAL SYNDROME LINKED TO THE PERICENTROMERIC REGION OF HUMAN-CHROMOSOME-16, American journal of human genetics, 61(4), 1997, pp. 889-898
DISSECTING THE LOCI CONTROLLING FETAL HEMOGLOBIN PRODUCTION ON CHROMOSOMES 11P AND 6Q BY THE REGRESSIVE APPROACH
Authors: CRAIG JE ROCHETTE J FISHER CA WEATHERALL DJ MARC S LATHROP GM DEMENAIS F THEIN SL
Citation: Je. Craig et al., DISSECTING THE LOCI CONTROLLING FETAL HEMOGLOBIN PRODUCTION ON CHROMOSOMES 11P AND 6Q BY THE REGRESSIVE APPROACH, Nature genetics, 12(1), 1996, pp. 58-64
CHROMOSOMAL STABILIZATION BY A SUBTELOMERIC REARRANGEMENT INVOLVING 2CLOSELY-RELATED ALU ELEMENTS
Authors: FLINT J ROCHETTE J CRADDOCK CF DODE C VIGNES B HORSLEY SW KEARNEY L BUCKLE VJ AYYUB H HIGGS DR
Citation: J. Flint et al., CHROMOSOMAL STABILIZATION BY A SUBTELOMERIC REARRANGEMENT INVOLVING 2CLOSELY-RELATED ALU ELEMENTS, Human molecular genetics, 5(8), 1996, pp. 1163-1169
HB-SUN-PRAIRIE - DIAGNOSTIC PITFALLS IN THALASSEMIC HEMOGLOBINOPATHIES
Authors: HO PJ ROCHETTE J REES DC FISHER CA HUEHNS ER WILL AM THEIN SL
Citation: Pj. Ho et al., HB-SUN-PRAIRIE - DIAGNOSTIC PITFALLS IN THALASSEMIC HEMOGLOBINOPATHIES, Hemoglobin, 20(2), 1996, pp. 103-112
LOCALIZATION OF A MAJOR TRANS-ACTING GENE CONTROLLING FETAL HEMOGLOBIN PRODUCTION ON CHROMOSOME 6Q
Authors: CRAIG JE ROCHETTE J FISHER C WEATHERALL DJ MARO S LATHROP GM DEMENAIS F THEIN SL
Citation: Je. Craig et al., LOCALIZATION OF A MAJOR TRANS-ACTING GENE CONTROLLING FETAL HEMOGLOBIN PRODUCTION ON CHROMOSOME 6Q, British Journal of Haematology, 93, 1996, pp. 194-194
A NOVEL SILENT POSTTRANSLATIONAL MECHANISM CONVERTS METHIONINE TO ASPARTATE IN HEMOGLOBIN BRISTOL (BETA-67[E11] VAL-MET-]ASP)
Authors: REES DC ROCHETTE J SCHOFIELD C GREEN B MORRIS M PARKER NE SASAKI H TANAKA A OHBA Y CLEGG JB
Citation: Dc. Rees et al., A NOVEL SILENT POSTTRANSLATIONAL MECHANISM CONVERTS METHIONINE TO ASPARTATE IN HEMOGLOBIN BRISTOL (BETA-67[E11] VAL-MET-]ASP), Blood, 88(1), 1996, pp. 341-348
MODERATE REDUCTION OF BETA-GLOBIN GENE TRANSCRIPT BY A NOVEL MUTATIONIN THE 5'-UNTRANSLATED REGION - A STUDY OF ITS INTERACTION WITH OTHERGENOTYPES IN 2 FAMILIES
Authors: HO PJ ROCHETTE J FISHER CA WONKE B JARVIS MK YARDUMIAN A THEIN SL
Citation: Pj. Ho et al., MODERATE REDUCTION OF BETA-GLOBIN GENE TRANSCRIPT BY A NOVEL MUTATIONIN THE 5'-UNTRANSLATED REGION - A STUDY OF ITS INTERACTION WITH OTHERGENOTYPES IN 2 FAMILIES, Blood, 87(3), 1996, pp. 1170-1178
HB QUESTEMBERT IS DUE TO A BASE SUBSTITUTION (T-]C) IN CODON-131 OF THE ALPHA-2-GLOBIN GENE AND HAS AN ALPHA-THALASSEMIA BIOSYNTHETIC RATIO
Authors: ROCHETTE J BARNETSON R THEIN SL VARET B VALENSI F
Citation: J. Rochette et al., HB QUESTEMBERT IS DUE TO A BASE SUBSTITUTION (T-]C) IN CODON-131 OF THE ALPHA-2-GLOBIN GENE AND HAS AN ALPHA-THALASSEMIA BIOSYNTHETIC RATIO, American journal of hematology, 48(4), 1995, pp. 289-290
MODERATE REDUCTION OFF GLOBIN GENE TRANSCRIPT BY A NOVEL MUTATION IN THE 5'-UNTRANSLATED REGION
Authors: HO PJ ROCHETTE J FISHER CA WONKE B JARVIS M YARDUMIAN A THEIN SL
Citation: Pj. Ho et al., MODERATE REDUCTION OFF GLOBIN GENE TRANSCRIPT BY A NOVEL MUTATION IN THE 5'-UNTRANSLATED REGION, Blood, 86(10), 1995, pp. 12-12
METHIONINE IS CONVERTED TO ASPARTATE BY A NOVEL POSTTRANSLATIONAL MECHANISM IN HEMOGLOBIN
Authors: REES DC ROCHETTE J GREEN B SCHOFIELD CJ OHBA Y CLEGG J
Citation: Dc. Rees et al., METHIONINE IS CONVERTED TO ASPARTATE BY A NOVEL POSTTRANSLATIONAL MECHANISM IN HEMOGLOBIN, Blood, 86(10), 1995, pp. 13-13
THE WILSON-DISEASE GENE IS SIMILAR TO THE MENKES-DISEASE GENE (VOL 10, PG 325, 1994)
Authors: ROCHETTE J
Citation: J. Rochette, THE WILSON-DISEASE GENE IS SIMILAR TO THE MENKES-DISEASE GENE (VOL 10, PG 325, 1994), MS. Medecine sciences, 10(6-7), 1994, pp. 760-760
FETAL HEMOGLOBIN LEVELS IN ADULTS
Authors: ROCHETTE J CRAIG JE THEIN SL
Citation: J. Rochette et al., FETAL HEMOGLOBIN LEVELS IN ADULTS, Blood reviews, 8(4), 1994, pp. 213-224
ASSOCIATION OF A NOVEL HIGH OXYGEN-AFFINITY HEMOGLOBIN-VARIANT WITH DELTA-BETA THALASSEMIA
Authors: ROCHETTE J BARNETSON R KIGER L KISTER J LITTLEWOOD TJ WEBSTER R POYART C THEIN SL
Citation: J. Rochette et al., ASSOCIATION OF A NOVEL HIGH OXYGEN-AFFINITY HEMOGLOBIN-VARIANT WITH DELTA-BETA THALASSEMIA, British Journal of Haematology, 86(1), 1994, pp. 118-124
DETECTION OF A MAJOR GENE FOR HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN AFTER ACCOUNTING FOR GENETIC MODIFIERS
Authors: THEIN SL SAMPIETRO M ROHDE K ROCHETTE J WEATHERALL DJ LATHROP GM DEMENAIS F
Citation: Sl. Thein et al., DETECTION OF A MAJOR GENE FOR HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN AFTER ACCOUNTING FOR GENETIC MODIFIERS, American journal of human genetics, 54(2), 1994, pp. 214-228
DETECTION OF A MAJOR GENE FOR HETEROCELLULAR HPFH AFTER ACCOUNTING FOR GENETIC MODIFIERS
Authors: THEIN SL SAMPLETRO M ROHDE K ROCHETTE J WEATHERALL DJ LATHROP GM DEMENALS F
Citation: Sl. Thein et al., DETECTION OF A MAJOR GENE FOR HETEROCELLULAR HPFH AFTER ACCOUNTING FOR GENETIC MODIFIERS, American journal of human genetics, 53(3), 1993, pp. 868-868
Risultati: 1-20 |