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Results: 1-25 |
Results: 25
PULMONARY MANIFESTATIONS OF GAUCHER-DISEASE - AN INCREASED RISK FOR L444P HOMOZYGOTES
Authors: SANTAMARIA F PARENTI G GUIDI G FILOCAMO M STRISCIUGLIO P GRILLO G FARINA V SARNELLI P RIZZOLO MG ROTONDO A ANDRIA G
Citation: F. Santamaria et al., PULMONARY MANIFESTATIONS OF GAUCHER-DISEASE - AN INCREASED RISK FOR L444P HOMOZYGOTES, American journal of respiratory and critical care medicine, 157(3), 1998, pp. 985-989
BRIEF CLINICAL REPORT - CENTRIC FISSION OF CHROMOSOME-9 IN A BOY WITHTRISOMY 9P
Authors: CONCOLINO D CINTI R MORICCA M ANDRIA G STRISCIUGLIO P
Citation: D. Concolino et al., BRIEF CLINICAL REPORT - CENTRIC FISSION OF CHROMOSOME-9 IN A BOY WITHTRISOMY 9P, American journal of medical genetics, 79(1), 1998, pp. 35-37
CLINICAL AND MOLECULAR HETEROGENEITY IN CARBONIC-ANHYDRASE-II DEFICIENCY AND PRENATAL-DIAGNOSIS IN AN ITALIAN FAMILY
Authors: STRISCIUGLIO P HU PY LIM EJ CICCOLELLA J SLY WS
Citation: P. Strisciuglio et al., CLINICAL AND MOLECULAR HETEROGENEITY IN CARBONIC-ANHYDRASE-II DEFICIENCY AND PRENATAL-DIAGNOSIS IN AN ITALIAN FAMILY, The Journal of pediatrics, 132(4), 1998, pp. 717-720
PARTIAL TRISOMY 1(Q42-]QTER) - A NEW CASE WITH A MILD PHENOTYPE
Authors: CONCOLINO D CINTI R FERRARO L MORICCA MT STRISCIUGLIO P
Citation: D. Concolino et al., PARTIAL TRISOMY 1(Q42-]QTER) - A NEW CASE WITH A MILD PHENOTYPE, Journal of Medical Genetics, 35(1), 1998, pp. 75-77
THE PREVALENCE OF HELICOBACTER-PYLORI INFECTION IS NOT INCREASED IN CHILDREN WITH CELIAC-DISEASE
Authors: LUZZA F MANCUSO M IMENEO M MESURACA L CONTALDO A PENSABENE L SCOZIA G STRISCIUGLIO P GUANDALINI S PALLONE F
Citation: F. Luzza et al., THE PREVALENCE OF HELICOBACTER-PYLORI INFECTION IS NOT INCREASED IN CHILDREN WITH CELIAC-DISEASE, Gastroenterology, 114(4), 1998, pp. 852-852
7 NOVEL MUTATIONS IN CARBONIC-ANHYDRASE-II DEFICIENCY SYNDROME IDENTIFIED BY SSCP AND DIRECT SEQUENCING ANALYSIS (VOL 9, PG 383, 1997)
Authors: HU PY LIM EJ CICCOLELLA J STRISCIUGLIO P SLY WS
Citation: Py. Hu et al., 7 NOVEL MUTATIONS IN CARBONIC-ANHYDRASE-II DEFICIENCY SYNDROME IDENTIFIED BY SSCP AND DIRECT SEQUENCING ANALYSIS (VOL 9, PG 383, 1997), Human mutation, 9(6), 1997, pp. 576-576
7 NOVEL MUTATION IN CARBONIC-ANHYDRASE-II DEFICIENCY SYNDROME IDENTIFIED BY SSCP AND DIRECT SEQUENCING ANALYSIS
Authors: HU PY LIM EJ CICCOLELLA J STRISCIUGLIO P SLY WS
Citation: Py. Hu et al., 7 NOVEL MUTATION IN CARBONIC-ANHYDRASE-II DEFICIENCY SYNDROME IDENTIFIED BY SSCP AND DIRECT SEQUENCING ANALYSIS, Human mutation, 9(5), 1997, pp. 383-387
MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS (VOL 5, PG 1977, 1996)/
Authors: ZHOU XY VANDERSPOEL A ROTTIER R HALE G WILLEMSEN R BERRY GT STRISCIUGLIO P MORRONE A ZAMMARCHI E ANDRIA G DAZZO A
Citation: Xy. Zhou et al., MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS (VOL 5, PG 1977, 1996)/, Human molecular genetics, 6(1), 1997, pp. 146-146
PHENYLKETONURIA IN ITALY - DISTINCT DISTRIBUTION PATTERN OF 3 MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE
Authors: GUZZETTA V BONAPACE G DIANZANI I PARENTI G LECORA M GIANNATTASIO S CONCOLINO D STRISCIUGLIO P SEBASTIO G ANDRIA G
Citation: V. Guzzetta et al., PHENYLKETONURIA IN ITALY - DISTINCT DISTRIBUTION PATTERN OF 3 MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE, Journal of inherited metabolic disease, 20(5), 1997, pp. 619-624
CLINICAL HETEROGENEITY IN CANTU-SYNDROME
Authors: CONCOLINO D FERRARO L DESETA S MERCURI B STRISCIUGLIO P
Citation: D. Concolino et al., CLINICAL HETEROGENEITY IN CANTU-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 524-524
EARLY DETECTION OF LUNG INVOLVEMENT IN LYSINURIC PROTEIN INTOLERANCE - ROLE OF HIGH-RESOLUTION COMPUTED-TOMOGRAPHY AND RADIOISOTOPIC METHODS
Authors: SANTAMARIA F PARENTI G GUIDI G ROTONDO A GRILLO G LAROCCA MR CELENTANO L STRISCIUGLIO P SEBASTIO G ANDRIA G
Citation: F. Santamaria et al., EARLY DETECTION OF LUNG INVOLVEMENT IN LYSINURIC PROTEIN INTOLERANCE - ROLE OF HIGH-RESOLUTION COMPUTED-TOMOGRAPHY AND RADIOISOTOPIC METHODS, American journal of respiratory and critical care medicine, 153(2), 1996, pp. 731-735
MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN-A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS/
Authors: ZHOU XY VANDERSPOEL A ROTTIER R HALE G WILLEMSEN R BERRY GT STRISCIUGLIO P ANDRIA G DAZZO A
Citation: Xy. Zhou et al., MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN-A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS/, Human molecular genetics, 5(12), 1996, pp. 1977-1987
CLINICAL AND BIOCHEMICAL SCREENING FOR SMITH-LEMLI-OPITZ SYNDROME
Authors: GUZZETTA V DEFABIANI E GALLI G COLOMBO C CORSO G LECORA M PARENTI G STRISCIUGLIO P ANDRIA G DIROCCO M GIANNOTTI S LUPI L SELICORNI A CLEMENTI G GABRIELLI O PINTO L RIZZO A ZELANTE L
Citation: V. Guzzetta et al., CLINICAL AND BIOCHEMICAL SCREENING FOR SMITH-LEMLI-OPITZ SYNDROME, Acta paediatrica, 85(8), 1996, pp. 937-942
A MILD FORM OF ROBERTS SC PHOCOMELIA SYNDROME WITH ASYMMETRICAL REDUCTION OF THE UPPER LIMBS/
Authors: CONCOLINO D SPERLI D CINTI R STRISCIUGLIO P ANDRIA G
Citation: D. Concolino et al., A MILD FORM OF ROBERTS SC PHOCOMELIA SYNDROME WITH ASYMMETRICAL REDUCTION OF THE UPPER LIMBS/, Clinical genetics, 49(5), 1996, pp. 274-276
DELAYED GASTRIC-EMPTYING - A NOVEL GASTROINTESTINAL FINDING IN TURNERS-SYNDROME
Authors: STAIANO A SALERNO M DIMAIO S MARSULLO G MARINO A CONCOLINO D STRISCIUGLIO P
Citation: A. Staiano et al., DELAYED GASTRIC-EMPTYING - A NOVEL GASTROINTESTINAL FINDING IN TURNERS-SYNDROME, Archives of Disease in Childhood, 75(5), 1996, pp. 440-443
NORMAL SERUM LEVELS OF VITAMIN-B12 AND FOLIC-ACID IN CHILDREN WITH PHENYLKETONURIA
Authors: STRISCIUGLIO P CONCOLINO D MORICCA MT RIVALTA L PARLATO G
Citation: P. Strisciuglio et al., NORMAL SERUM LEVELS OF VITAMIN-B12 AND FOLIC-ACID IN CHILDREN WITH PHENYLKETONURIA, European journal of pediatrics, 154(10), 1995, pp. 866-866
LYSINURIC PROTEIN INTOLERANCE CHARACTERIZED BY BONE-MARROW ABNORMALITIES AND SEVERE CLINICAL COURSE
Authors: PARENTI G SEBASTIO G STRISCIUGLIO P INCERTI B PECORARO C TERRACCIANO L ANDRIA G
Citation: G. Parenti et al., LYSINURIC PROTEIN INTOLERANCE CHARACTERIZED BY BONE-MARROW ABNORMALITIES AND SEVERE CLINICAL COURSE, The Journal of pediatrics, 126(2), 1995, pp. 246-251
PARTIAL TRISOMY-1 (Q42-]QTER) - A NEW CASE WITH A MILD PHENOTYPE
Authors: CONCOLINO D CINTI R FERRARO L MORICCA MT STRISCIUGLIO P
Citation: D. Concolino et al., PARTIAL TRISOMY-1 (Q42-]QTER) - A NEW CASE WITH A MILD PHENOTYPE, American journal of human genetics, 57(4), 1995, pp. 614-614
PREMATURE CAROTID ATHEROSCLEROSIS - DOES IT OCCUR IN BOTH FAMILIAL HYPERCHOLESTEROLEMIA AND HOMOCYSTINURIA - ULTRASOUND ASSESSMENT OF ARTERIAL INTIMA-MEDIA THICKNESS AND BLOOD-FLOW VELOCITY
Authors: RUBBA P MERCURI M FACCENDA F IANNUZZI A IRACE C STRISCIUGLIO P GNASSO A TANG R ANDRIA G BOND MG MANCINI M
Citation: P. Rubba et al., PREMATURE CAROTID ATHEROSCLEROSIS - DOES IT OCCUR IN BOTH FAMILIAL HYPERCHOLESTEROLEMIA AND HOMOCYSTINURIA - ULTRASOUND ASSESSMENT OF ARTERIAL INTIMA-MEDIA THICKNESS AND BLOOD-FLOW VELOCITY, Stroke, 25(5), 1994, pp. 943-950
CORRECTION OF PHENYLKETONURIA AFTER LIVER-TRANSPLANTATION IN A CHILD WITH CIRRHOSIS
Authors: VAJRO P STRISCIUGLIO P HOUSSIN D HUAULT G LAURENT J ALVAREZ F BERNARD O
Citation: P. Vajro et al., CORRECTION OF PHENYLKETONURIA AFTER LIVER-TRANSPLANTATION IN A CHILD WITH CIRRHOSIS, The New England journal of medicine, 329(5), 1993, pp. 363-363
LONG SURVIVAL OF A PATIENT WITH MARSHALL-SMITH SYNDROME WITHOUT RESPIRATORY COMPLICATIONS
Authors: SPERLI D CONCOLINO D BARBATO C STRISCIUGLIO P ANDRIA G
Citation: D. Sperli et al., LONG SURVIVAL OF A PATIENT WITH MARSHALL-SMITH SYNDROME WITHOUT RESPIRATORY COMPLICATIONS, Journal of Medical Genetics, 30(10), 1993, pp. 877-879
ABNORMALLY HIGH THROMBOXANE BIOSYNTHESIS IN HOMOZYGOUS HOMOCYSTINURIA- EVIDENCE FOR PLATELET INVOLVEMENT AND PROBUCOL-SENSITIVE MECHANISM
Authors: DIMINNO G DAVI G MARGAGLIONE M CIRILLO F GRANDONE E CIABATTONI G CATALANO I STRISCIUGLIO P ANDRIA G PATRONO C MANCINI M
Citation: G. Diminno et al., ABNORMALLY HIGH THROMBOXANE BIOSYNTHESIS IN HOMOZYGOUS HOMOCYSTINURIA- EVIDENCE FOR PLATELET INVOLVEMENT AND PROBUCOL-SENSITIVE MECHANISM, The Journal of clinical investigation, 92(3), 1993, pp. 1400-1406
LYSINURIC PROTEIN INTOLERANCE - STUDIES ON 17 ITALIAN PATIENTS
Authors: INCERTI B ANDRIA G PARENTI G SEBASTIO G GHEZZI M STRISCIUGLIO P SPERLI D DIROCCO M BORRONE C PARINI R DIANZANI I PONZONE A
Citation: B. Incerti et al., LYSINURIC PROTEIN INTOLERANCE - STUDIES ON 17 ITALIAN PATIENTS, American journal of human genetics, 53(3), 1993, pp. 908-908
COMMON POINT MUTATIONS IN 4 PATIENTS WITH THE LATE INFANTILE FORM OF GALACTOSIALIDOSIS
Authors: ZHOU XY WILLEMSEN R GILLEMANS N MORRONE A STRISCIUGLIO P ANDRIA G APPLEGARTH DA DAZZO A
Citation: Xy. Zhou et al., COMMON POINT MUTATIONS IN 4 PATIENTS WITH THE LATE INFANTILE FORM OF GALACTOSIALIDOSIS, American journal of human genetics, 53(3), 1993, pp. 966-966
A NEW CASE OF SUBMICROSCOPIC 4P16.3 DE-NOVO DELETION (WOLF-HIRSCHHORNSYNDROME) IDENTIFIED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: CONCOLINO D PEZZOLO A SPERLI D GIMELLI G STRISCIUGLIO P
Citation: D. Concolino et al., A NEW CASE OF SUBMICROSCOPIC 4P16.3 DE-NOVO DELETION (WOLF-HIRSCHHORNSYNDROME) IDENTIFIED BY FLUORESCENCE IN-SITU HYBRIDIZATION, American journal of human genetics, 53(3), 1993, pp. 1565-1565
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