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Results: 1-22 |
Results: 22
HB VALLETTA [BETA-87(F3)THR-]PRO] DUE TO AN A-]C SUBSTITUTION AT CODON-87 IN A CALABRIAN FAMILY WITH ALPHA-THALASSEMIA
Authors: QUALTIERI A ANDREOLI V CRESCIBENE L DEMARCO EV MUGLIA M GABRIELE AL ANNESI G BRANCATI C
Citation: A. Qualtieri et al., HB VALLETTA [BETA-87(F3)THR-]PRO] DUE TO AN A-]C SUBSTITUTION AT CODON-87 IN A CALABRIAN FAMILY WITH ALPHA-THALASSEMIA, Hemoglobin, 21(1), 1997, pp. 97-103
ANALYSIS OF THE (CAG)N REPEAT AT THE IT15 LOCUS IN A POPULATION FROM CALABRIA (SOUTHERN ITALY)
Authors: LEONE O MUGLIA M GABRIELE AL ANNESI G CONFORTI FL IMBROGNO E IMBROGNO L BRANCATI C
Citation: O. Leone et al., ANALYSIS OF THE (CAG)N REPEAT AT THE IT15 LOCUS IN A POPULATION FROM CALABRIA (SOUTHERN ITALY), Human biology, 69(5), 1997, pp. 653-662
PCR REAGENTS FOR DETECTION OF (CAG)(N) REPEATS IN HUNTINGTON-DISEASE - REPLY
Authors: MUGULIA M LEONE O ANNESI G GABRIELE AL IMBROGNO E GRANDINETTI C CONFORTI FL NASO F BRANCATI C
Citation: M. Mugulia et al., PCR REAGENTS FOR DETECTION OF (CAG)(N) REPEATS IN HUNTINGTON-DISEASE - REPLY, Clinical chemistry, 43(8), 1997, pp. 1463-1463
PCR REAGENTS FOR DETECTION OF (CAG)(N) REPEATS IN HUNTINGTON-DISEASE - REPLY (VOL 43, PG 1463, 1997)
Authors: MUGLIA M LEONE O ANNESI G GABRIELE AL IMBROGNO E GRANDINETTI C CONFORTI FL NASO F BRANCATI C
Citation: M. Muglia et al., PCR REAGENTS FOR DETECTION OF (CAG)(N) REPEATS IN HUNTINGTON-DISEASE - REPLY (VOL 43, PG 1463, 1997), Clinical chemistry, 43(10), 1997, pp. 2004-2004
SEVERE ERYTHROCYTE ADENYLATE KINASE-DEFICIENCY DUE TO HOMOZYGOUS A-]GSUBSTITUTION AT CODON-164 OF HUMAN AK1 GENE ASSOCIATED WITH CHRONIC HEMOLYTIC-ANEMIA
Authors: QUALTIERI A PEDACE V BISCONTE MG BRIA M GULINO B ANDREOLI V BRANCATI C
Citation: A. Qualtieri et al., SEVERE ERYTHROCYTE ADENYLATE KINASE-DEFICIENCY DUE TO HOMOZYGOUS A-]GSUBSTITUTION AT CODON-164 OF HUMAN AK1 GENE ASSOCIATED WITH CHRONIC HEMOLYTIC-ANEMIA, British Journal of Haematology, 99(4), 1997, pp. 770-776
SPECTRIN COSENZA - A NOVEL BETA-CHAIN VARIANT ASSOCIATED WITH SP ALPHA(I 74) HEREDITARY ELLIPTOCYTOSIS/
Authors: QUALTIERI A PASQUA A BISCONTE MG LEPERA M BRANCATI C
Citation: A. Qualtieri et al., SPECTRIN COSENZA - A NOVEL BETA-CHAIN VARIANT ASSOCIATED WITH SP ALPHA(I 74) HEREDITARY ELLIPTOCYTOSIS/, British Journal of Haematology, 97(2), 1997, pp. 273-278
GENETIC-HETEROGENEITY OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCYIN SOUTH-EAST SICILY
Authors: CITTADELLA B CIVITELLI D MANNA I AZZIA N DICATALDO A SCHILIRO G BRANCATI C
Citation: B. Cittadella et al., GENETIC-HETEROGENEITY OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCYIN SOUTH-EAST SICILY, Annals of Human Genetics, 61, 1997, pp. 229-234
A SIMPLE AND RAPID NONISOTOPIC - METHOD FOR SIZING CAG REPEATS IN THESCA1 GENE
Authors: ANNESI G MUGLIA M CONFORTI FL LEONE O GRANDINETTI C IMBROGNO E GABRIELE AL NASO F BRANCATI C
Citation: G. Annesi et al., A SIMPLE AND RAPID NONISOTOPIC - METHOD FOR SIZING CAG REPEATS IN THESCA1 GENE, Human heredity, 47(1), 1997, pp. 47-51
NONISOTOPIC METHOD FOR ACCURATE DETECTION OF (CAG)(N) REPEATS CAUSINGHUNTINGTON DISEASE
Authors: MUGLIA M LEONE O ANNESI G GABRIELE AL IMBROGNO E GRANDINETTI C CONFORTI FL NASO F BRANCATI C
Citation: M. Muglia et al., NONISOTOPIC METHOD FOR ACCURATE DETECTION OF (CAG)(N) REPEATS CAUSINGHUNTINGTON DISEASE, Clinical chemistry, 42(10), 1996, pp. 1601-1603
FOLLOW-UP-STUDY OF THYROID-FUNCTION IN POLYTRANSFUSED THALASSEMIC PATIENTS
Authors: MAGGIOLINI M DELUCA G BRIA M SISCI D AQUILA S PEZZI V LANZINO M GIORNO A TAMBURRINI O DELLASALA M CORCIONI E BRANCATI C ANDO S
Citation: M. Maggiolini et al., FOLLOW-UP-STUDY OF THYROID-FUNCTION IN POLYTRANSFUSED THALASSEMIC PATIENTS, Endocrine, 3(2), 1995, pp. 91-94
HB J-WENCHANG-WUMING OR ALPHA-11(A9)LYS-]GLN IN AN ITALIAN WOMAN
Authors: QUALTIERI A DEMARCO EV CRESCIBENE L ANDREOLI V BAGALA A SCORNAIENCHI M BRANCATI C GRECO CM
Citation: A. Qualtieri et al., HB J-WENCHANG-WUMING OR ALPHA-11(A9)LYS-]GLN IN AN ITALIAN WOMAN, Hemoglobin, 19(5), 1995, pp. 277-280
SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN CALABRIA - IMPLICATIONS FORPRENATAL-DIAGNOSIS
Authors: MAGRO S SANTILLI E MANCUSO R PUZZONIA P CONSARINO C MORGIONE S GALATI MC FERSINI G MADONNA G BRANCATI C VADALA P MOLICA S
Citation: S. Magro et al., SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN CALABRIA - IMPLICATIONS FORPRENATAL-DIAGNOSIS, American journal of hematology, 48(2), 1995, pp. 128-129
SP(ALPHA)(I 65) HEREDITARY ELLIPTOCYTOSIS IN CALABRIA (SOUTHERN ITALY)/
Authors: QUALTIERI A BISCONTE MG PASQUA A BRIA M BRANCATI C
Citation: A. Qualtieri et al., SP(ALPHA)(I 65) HEREDITARY ELLIPTOCYTOSIS IN CALABRIA (SOUTHERN ITALY)/, Human genetics, 95(3), 1995, pp. 359-362
GH SECRETION IN THALASSEMIC PATIENTS WITH SHORT STATURE
Authors: DELUCA G MAGGIOLINI M BRIA M CARACCIOLO M GIORNO A SALERNO M MARSICO S LANZINO M BRANCATI C ANDO S
Citation: G. Deluca et al., GH SECRETION IN THALASSEMIC PATIENTS WITH SHORT STATURE, Hormone research, 44(4), 1995, pp. 158-163
MULTICENTER STUDY ON PREVALENCE OF ENDOCRINE COMPLICATIONS IN THALASSEMIA MAJOR - ITALIAN WORKING GROUP ON ENDOCRINE COMPLICATIONS IN NON-ENDOCRINE DISEASES
Authors: DESANCTIS V PINTOR C GAMBERINI MR UGHI M PINAMONTI A ALIQUO MC ANASTASI S ANDO S BRANCATI C BRUNO MA CIACCIO C GERARDI C CIANCIULLI C CISTERNINO M BRUCIATELLI M DASCOLA G DIGREGORIO F NICOLETTI MC ESPOSITO L PONTE G GALATI MC GALLISAI D GRIMALDI S MANGIAGLI A MELEVENDI C MEO A STEFANO I PASQUINO AM PONZI G QUARTA G ROMONDIA A RUGGIERO L SAVIANO A FILOSA A TERZOLI S
Citation: V. Desanctis et al., MULTICENTER STUDY ON PREVALENCE OF ENDOCRINE COMPLICATIONS IN THALASSEMIA MAJOR - ITALIAN WORKING GROUP ON ENDOCRINE COMPLICATIONS IN NON-ENDOCRINE DISEASES, Clinical endocrinology, 42(6), 1995, pp. 581-586
DYS19, D12S67, AND D1S80 POLYMORPHISMS IN POPULATION SAMPLES FROM SOUTHERN ITALY AND GREECE
Authors: FALCONE E SPADAFORA P DELUCA M RUFFOLO R BRANCATI C DEBENEDICTIS G
Citation: E. Falcone et al., DYS19, D12S67, AND D1S80 POLYMORPHISMS IN POPULATION SAMPLES FROM SOUTHERN ITALY AND GREECE, Human biology, 67(5), 1995, pp. 689-701
HB D-IRAN [BETA-22(B4)GLU-]GLN] IN SOUTHERN ITALY
Authors: DEMARCO EV CRESCIBENE L BAGALA A BRANCATI C QUALTIERI A BRIA M
Citation: Ev. Demarco et al., HB D-IRAN [BETA-22(B4)GLU-]GLN] IN SOUTHERN ITALY, Hemoglobin, 18(1), 1994, pp. 65-69
IN-VIVO METABOLIC STUDIES OF GLUCOSE, ATP AND 2,3-DPG IN BETA-THALASSEMIA-INTERMEDIA, HETEROZYGOUS BETA-THALASSEMIC AND NORMAL ERYTHROCYTES- C-13 AND P-31 MRS STUDIES
Authors: TING YLT NACCARATO S QUALTIERI A CHIDICHIMO G BRANCATI C
Citation: Ylt. Ting et al., IN-VIVO METABOLIC STUDIES OF GLUCOSE, ATP AND 2,3-DPG IN BETA-THALASSEMIA-INTERMEDIA, HETEROZYGOUS BETA-THALASSEMIC AND NORMAL ERYTHROCYTES- C-13 AND P-31 MRS STUDIES, British Journal of Haematology, 88(3), 1994, pp. 547-554
G6PD HAPLOTYPES SPANNING XQ28 FROM F8C TO RED-GREEN COLOR-VISION
Authors: FILOSA S CALABRO V LANIA G VULLIAMY TJ BRANCATI C TAGARELLI A LUZZATTO L MARTINI G
Citation: S. Filosa et al., G6PD HAPLOTYPES SPANNING XQ28 FROM F8C TO RED-GREEN COLOR-VISION, Genomics, 17(1), 1993, pp. 6-14
ALPHA-THALASSEMIA IN A SOUTHERN ITALIAN POPULATION (DETECTION BY A NONRADIOACTIVE PROCEDURE)
Authors: MUGLIA M ANNESI G GABRIELE AL COVELLO M BRANCATI C
Citation: M. Muglia et al., ALPHA-THALASSEMIA IN A SOUTHERN ITALIAN POPULATION (DETECTION BY A NONRADIOACTIVE PROCEDURE), Hemoglobin, 17(3), 1993, pp. 285-287
RFLPS OF THE APO-B GENE - COMPARATIVE-STUDY BETWEEN GREEKS AND SOUTHERN ITALIAN PEOPLES
Authors: DEBENEDICTIS G LEONE O FALCONE E ROSE G BRANCATI C CAROTENUTO L
Citation: G. Debenedictis et al., RFLPS OF THE APO-B GENE - COMPARATIVE-STUDY BETWEEN GREEKS AND SOUTHERN ITALIAN PEOPLES, Human biology, 65(3), 1993, pp. 401-411
GENETIC-HETEROGENEITY OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCYREVEALED BY SINGLE-STRAND CONFORMATION AND SEQUENCE-ANALYSIS
Authors: MASON PJ CALABRO V FILOSA S CIVITELLI D CITTADELLA R TAGARELLI A MARTINI G BRANCATI C LUZZATTO L
Citation: Pj. Mason et al., GENETIC-HETEROGENEITY OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCYREVEALED BY SINGLE-STRAND CONFORMATION AND SEQUENCE-ANALYSIS, British Journal of Haematology, 84, 1993, pp. 23-23
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