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Results: 1-25 | 26-29
Results: 1-25/29
8 NEW MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE IN ITALIAN PATIENTS WITH HYPERPHENYLALANINEMIA
Authors: BOSCO P CALI F MELI C MOLLICA F ZAMMARCHI E CERONE R VANNI C PALILLO L GRECO D ROMANO V
Citation: P. Bosco et al., 8 NEW MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE IN ITALIAN PATIENTS WITH HYPERPHENYLALANINEMIA, Human mutation, 11(3), 1998, pp. 240-243
HYPORESPONSIVENESS TO INTRADERMAL ADMINISTRATION OF HEPATITIS-B VACCINE IN INSULIN-DEPENDENT DIABETES-MELLITUS
Authors: LIVOLTI S CARUSONICOLETTI M BIAZZO F SCIACCA A MANDARA G MANCUSO M MOLLICA F
Citation: S. Livolti et al., HYPORESPONSIVENESS TO INTRADERMAL ADMINISTRATION OF HEPATITIS-B VACCINE IN INSULIN-DEPENDENT DIABETES-MELLITUS, Archives of Disease in Childhood, 78(1), 1998, pp. 54-57
MUTATIONS IN THE EXT1 AND EXT2 GENES IN HEREDITARY MULTIPLE EXOSTOSES
Authors: WUYTS W VANHUL W DEBOULLE K HENDRICKX J BAKKER E VANHOENACKER F MOLLICA F LUDECKE HJ SAYLI BS PAZZAGLIA UE MORTIER G HAMEL B CONRAD EU MATSUSHITA M RASKIND WH WILLEMS PJ
Citation: W. Wuyts et al., MUTATIONS IN THE EXT1 AND EXT2 GENES IN HEREDITARY MULTIPLE EXOSTOSES, American journal of human genetics, 62(2), 1998, pp. 346-354
SECONDARY DEFORMATIONS DUE TO AXIAL SHEAR OF THE ANNULAR REGION BETWEEN 2 ECCENTRICALLY PLACED CYLINDERS
Authors: MOLLICA F RAJAGOPAL KR
Citation: F. Mollica et Kr. Rajagopal, SECONDARY DEFORMATIONS DUE TO AXIAL SHEAR OF THE ANNULAR REGION BETWEEN 2 ECCENTRICALLY PLACED CYLINDERS, Journal of elasticity, 48(2), 1997, pp. 103-123
DOUBLE PARTIAL TRISOMY 9Q34.1-]QTER AND 21PTER-]Q22.11 - FISH AND CLINICAL FINDINGS
Authors: MATTINA T PIERLUIGI M MAZZONE D SCARDILLI S PERFUMO C MOLLICA F
Citation: T. Mattina et al., DOUBLE PARTIAL TRISOMY 9Q34.1-]QTER AND 21PTER-]Q22.11 - FISH AND CLINICAL FINDINGS, Journal of Medical Genetics, 34(11), 1997, pp. 945-948
SAFETY AND EFFECTIVENESS OF AN ACELLULAR PERTUSSIS-VACCINE IN SUBJECTS WITH DOWNS-SYNDROME
Authors: LIVOLTI S MATTINA T MAURO L ANFUSO S URSINO A MOLLICA F
Citation: S. Livolti et al., SAFETY AND EFFECTIVENESS OF AN ACELLULAR PERTUSSIS-VACCINE IN SUBJECTS WITH DOWNS-SYNDROME, Child's nervous system, 12(2), 1996, pp. 100-102
MICROMEGAKARYOCYTES IN A PATIENT WITH PARTIAL DELETION OF THE LONG ARM OF CHROMOSOME 11[DEL(11)(Q24.2QTER)] AND CHRONIC THROMBOCYTOPENIC PURPURA
Authors: GANGAROSSA S MATTINA T ROMANO V MILANA G MOLLICA F SCHILIRO G
Citation: S. Gangarossa et al., MICROMEGAKARYOCYTES IN A PATIENT WITH PARTIAL DELETION OF THE LONG ARM OF CHROMOSOME 11[DEL(11)(Q24.2QTER)] AND CHRONIC THROMBOCYTOPENIC PURPURA, American journal of medical genetics, 62(2), 1996, pp. 120-123
PAH DEFICIENCY IN ITALY - CORRELATION OF GENOTYPE WITH PHENOTYPE IN THE SICILIAN POPULATION
Authors: ROMANO V GULDBERG P GUTTLER F MELI C MOLLICA F PAVONE L GIOVANNINI M RIVA E BIASUCCI G LUOTTI D PALILLO L CALI F CERATTO N ANELLO G BOSCO P
Citation: V. Romano et al., PAH DEFICIENCY IN ITALY - CORRELATION OF GENOTYPE WITH PHENOTYPE IN THE SICILIAN POPULATION, Journal of inherited metabolic disease, 19(1), 1996, pp. 15-24
2 NOVEL PARTIAL DELETIONS OF LDL-RECEPTOR GENE IN ITALIAN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA (FHSIRACUSA AND FHREGGIO EMILIA)
Authors: GARUTI R LELLI N BAROZZINI M TIOZZO R GHISELLINI M SIMONE ML VOLTI SL GAROZZO R MOLLICA F VERGONI W BERTOLINI S CALANDRA S
Citation: R. Garuti et al., 2 NOVEL PARTIAL DELETIONS OF LDL-RECEPTOR GENE IN ITALIAN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA (FHSIRACUSA AND FHREGGIO EMILIA), Atherosclerosis, 121(1), 1996, pp. 105-117
ROUTINE CLINICAL-APPLICATION OF THE FRAXA PFU PCR ASSAY - LIMITS AND UTILITY
Authors: CONDORELLI DF MILANA G DELLALBANI P ROCCAZZELLO AM INSIRELLO E PAVONE L MOLLICA F
Citation: Df. Condorelli et al., ROUTINE CLINICAL-APPLICATION OF THE FRAXA PFU PCR ASSAY - LIMITS AND UTILITY, Clinical genetics, 50(5), 1996, pp. 366-371
ANTLEY-BIXLER SYNDROME
Authors: MATTINA T PIERLUIGI M PERFUMO C MAZZONE D SCARDILLI S MOLLICA F
Citation: T. Mattina et al., ANTLEY-BIXLER SYNDROME, Clinical genetics, 50(4), 1996, pp. 277-277
DYSMEGAKARYOPOIETIC THROMBOCYTOPENIA IN PATIENTS WITH DISTAL CHROMOSOME 11Q DELETION
Authors: GANGAROSSA S SCHILIRO G MATTINA T SCARDILLI S MOLLICA F CAVALLARI V
Citation: S. Gangarossa et al., DYSMEGAKARYOPOIETIC THROMBOCYTOPENIA IN PATIENTS WITH DISTAL CHROMOSOME 11Q DELETION, Blood, 87(11), 1996, pp. 4915-4916
THE REDUCTION OF THE RENAL MEDULLA OSMOLALITY INCREASES LOOP OF HENLEBICARBONATE TRANSPORT THROUGH ACTIVATION OF ANION CHANNELS
Authors: CAPASSO G SAVIANO C MOLLICA F CIANI F DESANTO NG
Citation: G. Capasso et al., THE REDUCTION OF THE RENAL MEDULLA OSMOLALITY INCREASES LOOP OF HENLEBICARBONATE TRANSPORT THROUGH ACTIVATION OF ANION CHANNELS, Journal of the American Society of Nephrology, 6(3), 1995, pp. 306-306
DURATION OF HEPATITIS-B ANTIBODY-RESPONSE IN CHILDREN IMMUNIZED WITH HEPATITIS-B AND COMPULSORY VACCINES
Authors: VOLTI SL GIAMMANCOBILANCIA G GIAMMANCO G MOLLICA F
Citation: Sl. Volti et al., DURATION OF HEPATITIS-B ANTIBODY-RESPONSE IN CHILDREN IMMUNIZED WITH HEPATITIS-B AND COMPULSORY VACCINES, European journal of epidemiology, 11(2), 1995, pp. 217-219
TUBULAR-ACIDOSIS - CELL MECHANISMS AND PA THOGENETIC REDEFINITION
Authors: CAPASSO G SAVIANO C MOLLICA F DESANTO NG
Citation: G. Capasso et al., TUBULAR-ACIDOSIS - CELL MECHANISMS AND PA THOGENETIC REDEFINITION, Rivista italiana di pediatria, 21, 1995, pp. 20-25
TUBULE EFFECTS OF GLOMERULAR HYPERFILTRATION - AN INTEGRATED VIEW
Authors: CAPASSO G MOLLICA F SAVIANO C DESANTO GN
Citation: G. Capasso et al., TUBULE EFFECTS OF GLOMERULAR HYPERFILTRATION - AN INTEGRATED VIEW, Seminars in nephrology, 15(5), 1995, pp. 419-425
SEVERE CASE OF AL AWADI RAAS-ROTHSCHILD SYNDROME OR NEW, POSSIBLY AUTOSOMAL RECESSIVE FACIO-SKELETO-GENITAL SYNDROME/
Authors: MOLLICA F MAZZONE D CIMINO G OPITZ JM
Citation: F. Mollica et al., SEVERE CASE OF AL AWADI RAAS-ROTHSCHILD SYNDROME OR NEW, POSSIBLY AUTOSOMAL RECESSIVE FACIO-SKELETO-GENITAL SYNDROME/, American journal of medical genetics, 56(2), 1995, pp. 168-172
EFFECT OF MEDULLARY HYPOTONICITY ON NET BICARBONATE TRANSPORT ALONG THE LOOP OF HENLE (LOH)
Authors: CAPASSO G SAVIANO C UNWIN R VINCIGUERRA M CIANI F MOLLICA F MEDOLLA G TUCCI A DESANTO NG
Citation: G. Capasso et al., EFFECT OF MEDULLARY HYPOTONICITY ON NET BICARBONATE TRANSPORT ALONG THE LOOP OF HENLE (LOH), Kidney international, 47(2), 1995, pp. 667-667
A NOVEL HOMOZYGOUS POINT MUTATION IN THE COLLAGEN-VII GENE (COL7A1) IN 2 COUSINS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: DUNNILL MGS RICHARDS AJ MILANA G MOLLICA F EADY RAJ POPE FM
Citation: Mgs. Dunnill et al., A NOVEL HOMOZYGOUS POINT MUTATION IN THE COLLAGEN-VII GENE (COL7A1) IN 2 COUSINS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Human molecular genetics, 3(9), 1994, pp. 1693-1694
SINGLE-BASE PAIR DELETIONS IN EXONS 39 AND 42 OF THE COL4A5 GENE IN ALPORT SYNDROME
Authors: RENIERI A GALLI L DEMARCHI M VOLTI SL MOLLICA F LUPO A MASCHIO G PEISSEL B ROSSETTI S PIGNATTI P TURCO AE
Citation: A. Renieri et al., SINGLE-BASE PAIR DELETIONS IN EXONS 39 AND 42 OF THE COL4A5 GENE IN ALPORT SYNDROME, Human molecular genetics, 3(1), 1994, pp. 201-202
CORTICOSTEROID-THERAPY DOES NOT PREVENT NEPHRITIS IN HENOCH-SCHONLEINPURPURA
Authors: MOLLICA F VOLTI SL GAROZZO R RUSSO G
Citation: F. Mollica et al., CORTICOSTEROID-THERAPY DOES NOT PREVENT NEPHRITIS IN HENOCH-SCHONLEINPURPURA, Pediatric nephrology, 8(1), 1994, pp. 131-131
GENETIC-LINKAGE TO THE TYPE-VII COLLAGEN GENE (COL7A1) IN 26 FAMILIESWITH GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA AND ANCHORING FIBRIL ABNORMALITIES
Authors: DUNNILL MGS RICHARDS AJ MILANA G MOLLICA F ATHERTON D WINSHIP I FARRALL M ALIMARA L EADY RAJ POPE FM
Citation: Mgs. Dunnill et al., GENETIC-LINKAGE TO THE TYPE-VII COLLAGEN GENE (COL7A1) IN 26 FAMILIESWITH GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA AND ANCHORING FIBRIL ABNORMALITIES, Journal of Medical Genetics, 31(10), 1994, pp. 745-748
A POINT MUTATION OF THE TYPE-VII COLLAGEN GENE (COL7A1) IN 2 COUSINS AND 3 UNRELATED PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: DUNNILL MGS RICHARDS AJ MILANA G MOLLICA F EADY RAJ POPE FM
Citation: Mgs. Dunnill et al., A POINT MUTATION OF THE TYPE-VII COLLAGEN GENE (COL7A1) IN 2 COUSINS AND 3 UNRELATED PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 103(3), 1994, pp. 438-438
MUTATIONAL SPECTRUM OF PHENYLALANINE-HYDROXYLASE DEFICIENCY IN SICILY- IMPLICATIONS FOR DIAGNOSIS OF HYPERPHENYL-ALANINEMIA IN SOUTHERN EUROPE
Authors: GULDBERG P ROMANO V CERATTO N BOSCO P CIUNA M INDELICATO A MOLLICA F MELI C GIOVANNINI M RIVA E BIASUCCI G HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., MUTATIONAL SPECTRUM OF PHENYLALANINE-HYDROXYLASE DEFICIENCY IN SICILY- IMPLICATIONS FOR DIAGNOSIS OF HYPERPHENYL-ALANINEMIA IN SOUTHERN EUROPE, Human molecular genetics, 2(10), 1993, pp. 1703-1707
ACUTE POSTSTREPTOCOCCAL GLOMERULONEPHRITIS IN AN 8-MONTH-OLD GIRL
Authors: VOLTI SL FURNARI ML GAROZZO R SANTANGELO G MOLLICA F
Citation: Sl. Volti et al., ACUTE POSTSTREPTOCOCCAL GLOMERULONEPHRITIS IN AN 8-MONTH-OLD GIRL, Pediatric nephrology, 7(6), 1993, pp. 737-738
Risultati: 1-25 | 26-29