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Results: 1-25 | 26-27
Results: 1-25/27
PRENATAL-DIAGNOSIS IN 26 FETUSES AT-RISK FOR SEVERE PRIMARY IMMUNE DEFICIENCIES
Authors: COMINOTTI A GILIANI S ZUCCA S BRUGNONI D AIRO P CANDOTTI F FIORINI M MELLA P BADOLATO R SCHUMACHER RF GUANDALINI F BELLOTTI D LALATTA F TORCOLI D NOTARANGELO LD
Citation: A. Cominotti et al., PRENATAL-DIAGNOSIS IN 26 FETUSES AT-RISK FOR SEVERE PRIMARY IMMUNE DEFICIENCIES, Rivista italiana di pediatria, 24(1), 1998, pp. 117-121
REPORT OF THE ESID COLLABORATIVE STUDY ON CLINICAL-FEATURES AND MOLECULAR ANALYSIS IN X-LINKED HYPER-IGM SYNDROME
Authors: NOTARANGELO LD GILIANI S JONES A DESAINTBASILE G FLORINI M TONIATI P MELLA P VIHINEN M
Citation: Ld. Notarangelo et al., REPORT OF THE ESID COLLABORATIVE STUDY ON CLINICAL-FEATURES AND MOLECULAR ANALYSIS IN X-LINKED HYPER-IGM SYNDROME, Molecular immunology, 35(11-12), 1998, pp. 665-665
BIOCHEMICAL, IMMUNOLOGICAL AND MOLECULAR STUDIES IN 2 PATIENTS WITH ATYPICAL SCIDX1
Authors: MELLA P GILIANI S BRUGNONI D CANDOTTI F MARTIRE B DEMATIA D PENNACCHIO M PORTA F IMBERTI L NOTARANGELO LD
Citation: P. Mella et al., BIOCHEMICAL, IMMUNOLOGICAL AND MOLECULAR STUDIES IN 2 PATIENTS WITH ATYPICAL SCIDX1, Molecular immunology, 35(11-12), 1998, pp. 713-713
MUTATIONS IN THE JAK3-GENE IN CHILDREN WITH AUTOSOMAL RECESSIVE T-B-GENE IN CHILDREN WITH AUTOSOMAL RECESSIVE T-B+ SCID( SCID IN THE JAK3)
Authors: SCHUMACHER RF MELLA P BADOLATO R FIORINI M GILIANI S VILLA A CANDOTTI F VEZZONI P NOTARANGELO LD
Citation: Rf. Schumacher et al., MUTATIONS IN THE JAK3-GENE IN CHILDREN WITH AUTOSOMAL RECESSIVE T-B-GENE IN CHILDREN WITH AUTOSOMAL RECESSIVE T-B+ SCID( SCID IN THE JAK3), Molecular immunology, 35(11-12), 1998, pp. 713-713
OMENN-SYNDROME - PARTIAL RAG1 AND RAG2 DEFICIENCY
Authors: BOZZI F SPANOPOULOU E SANTAGATA S STRINA D GILIANI S NOTARANGELO L OCHS H IMBERTI L VEZZONI P VILLA A
Citation: F. Bozzi et al., OMENN-SYNDROME - PARTIAL RAG1 AND RAG2 DEFICIENCY, Molecular immunology, 35(11-12), 1998, pp. 717-717
MOLECULAR, BIOCHEMICAL AND IMMUNO-CYTOCHEMICAL ANALYSIS IN FAMILIES WITH WAS XLT/
Authors: GILIANI S FIORINI M MELLA P VERMI W FRANCESCHINI R IMBERTI L SCHUMACHER RF BOE F FACCHETTI F NOTARANGELO LD
Citation: S. Giliani et al., MOLECULAR, BIOCHEMICAL AND IMMUNO-CYTOCHEMICAL ANALYSIS IN FAMILIES WITH WAS XLT/, Molecular immunology, 35(11-12), 1998, pp. 718-718
THE SPLEEN IN THE WISKOTT-ALDRICH-SYNDROME - WHITE PULP CHANGES CORRELATE WITH THE CLINICAL PHENOTYPE OF THE DISEASE
Authors: FACCHETTI F VERMI W BLANZUOLI L GRIGOLATO PG DONATO F GILIANI S NOTARANGELO LD
Citation: F. Facchetti et al., THE SPLEEN IN THE WISKOTT-ALDRICH-SYNDROME - WHITE PULP CHANGES CORRELATE WITH THE CLINICAL PHENOTYPE OF THE DISEASE, Molecular immunology, 35(11-12), 1998, pp. 733-733
REPORT OF THE ESID COLLABORATIVE STUDY ON CLINICAL-FEATURES AND MOLECULAR ANALYSIS IN X-LINKED HYPER-IGM SYNDROME
Authors: NOTARANGELO LD GILIANI S JONES A DESAINTBASILE G FIORINI M TONIATI P MELLA P VIHINEN M
Citation: Ld. Notarangelo et al., REPORT OF THE ESID COLLABORATIVE STUDY ON CLINICAL-FEATURES AND MOLECULAR ANALYSIS IN X-LINKED HYPER-IGM SYNDROME, Molecular immunology, 35(11-12), 1998, pp. 796-796
PARTIAL V(D)J RECOMBINATION ACTIVITY LEADS TO OMENN-SYNDROME
Authors: VILLA A SANTAGATA S BOZZI F GILIANI S FRATTINI A IMBERTI L GATTA LB OCHS HD SCHWARZ K NOTARANGELO LD VEZZONI P SPANOPOULOU E
Citation: A. Villa et al., PARTIAL V(D)J RECOMBINATION ACTIVITY LEADS TO OMENN-SYNDROME, Cell, 93(5), 1998, pp. 885-896
DEFECTIVE ACTIN POLYMERIZATION IN EBV-TRANSFORMED B-CELL LINES FROM PATIENTS WITH THE WISKOTT-ALDRICH-SYNDROME
Authors: FACCHETTI F BLANZUOLI L VERMI W NOTARANGELO LD GILIANI S FIORINI M FASTH A STEWART DM NELSON DL
Citation: F. Facchetti et al., DEFECTIVE ACTIN POLYMERIZATION IN EBV-TRANSFORMED B-CELL LINES FROM PATIENTS WITH THE WISKOTT-ALDRICH-SYNDROME, Journal of pathology, 185(1), 1998, pp. 99-107
MUTATION ANALYSIS BY A NONRADIOACTIVE SINGLE-STRAND CONFORMATION POLYMORPHISM ASSAY IN 9 FAMILIES WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDX1)
Authors: WENGLER GS GILIANI S FIORINI M MELLA P MANTUANO E ZANOLA A POLLONINI G EIBL MM UGAZIO AG NOTARANGELO LD PAROLINI O
Citation: Gs. Wengler et al., MUTATION ANALYSIS BY A NONRADIOACTIVE SINGLE-STRAND CONFORMATION POLYMORPHISM ASSAY IN 9 FAMILIES WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDX1), British Journal of Haematology, 101(3), 1998, pp. 586-591
IMPAIRMENT OF IGE GERMLINE TRANSCRIPT INDUCTION BY IL-4, BUT NOT IL-13, IN B-CELL LINES FROM JAK-3 AND GAMMA(C) DEFICIENT SCID PATIENTS
Authors: GAUCHAT JF LECOANETHENCHOZ S GILIANI S CANDOTTI F OAKES SA OSHEA JJ NOTARANGELO LD BONNEFOY JY
Citation: Jf. Gauchat et al., IMPAIRMENT OF IGE GERMLINE TRANSCRIPT INDUCTION BY IL-4, BUT NOT IL-13, IN B-CELL LINES FROM JAK-3 AND GAMMA(C) DEFICIENT SCID PATIENTS, Journal of allergy and clinical immunology, 99(1), 1997, pp. 1060-1060
A BOY WITH X-LINKED HYPER-IGM SYNDROME AND NATURAL-KILLER-CELL DEFICIENCY
Authors: OSTENSTAD B GILIANI S MELLBYE OJ NILSEN BR ABRAHAMSEN T
Citation: B. Ostenstad et al., A BOY WITH X-LINKED HYPER-IGM SYNDROME AND NATURAL-KILLER-CELL DEFICIENCY, Clinical and experimental immunology, 107(2), 1997, pp. 230-234
STRUCTURAL AND FUNCTIONAL BASIS FOR JAK3-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY
Authors: CANDOTTI F OAKES SA JOHNSTON JA GILIANI S SCHUMACHER RF MELLA P FIORINI M UGAZIO AG BADOLATO R NOTARANGELO LD BOZZI F MACCHI P STRINA D VEZZONI P BLAESE RM OSHEA JJ VILLA A
Citation: F. Candotti et al., STRUCTURAL AND FUNCTIONAL BASIS FOR JAK3-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY, Blood, 90(10), 1997, pp. 3996-4003
IN-UTERO TRANSPLANTATION OF PARENTAL CD34 HEMATOPOIETIC PROGENITOR CELLS IN A PATIENT WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDXI)
Authors: WENGLER GS LANFRANCHI A FRUSCA T VERARDI R NEVA A BRUGNONI D GILIANI S FIORINI M MELLA P GUANDALINI F MAZZOLARI E PECORELLI S NOTARANGELO LD PORTA F UGAZIO AG
Citation: Gs. Wengler et al., IN-UTERO TRANSPLANTATION OF PARENTAL CD34 HEMATOPOIETIC PROGENITOR CELLS IN A PATIENT WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDXI), Lancet, 348(9040), 1996, pp. 1484-1487
THE GENOMIC ORGANIZATION OF THE HUMAN TRANSCRIPTION FACTOR-3 (TFE3) GENE
Authors: MACCHI P NOTARANGELO L GILIANI S SIRINA D REPETTO M SACCO MG VEZZONI P VILLA A
Citation: P. Macchi et al., THE GENOMIC ORGANIZATION OF THE HUMAN TRANSCRIPTION FACTOR-3 (TFE3) GENE, Genomics, 28(3), 1995, pp. 491-494
MUTATION ANALYSIS IN WISKOTT-ALDRICH SYNDROME ON CHORIONIC VILLUS DNA
Authors: WENGLER GS NOTARANGELO LD GILIANI S PIRASTRU MG UGAZIO AG PAROLINI O
Citation: Gs. Wengler et al., MUTATION ANALYSIS IN WISKOTT-ALDRICH SYNDROME ON CHORIONIC VILLUS DNA, Lancet, 346(8975), 1995, pp. 641-642
MUTATIONS OF JAK-3 GENE IN PATIENTS WITH AUTOSOMAL SEVERE COMBINED IMMUNE-DEFICIENCY (SCID)
Authors: MACCHI P VILLA A GILIANI S SACCO MG FRATTINI A PORTA F UGAZIO AG JOHNSTON JA CANDOTTI F OSHEA JJ VEZZONI P NOTARANGELO LD
Citation: P. Macchi et al., MUTATIONS OF JAK-3 GENE IN PATIENTS WITH AUTOSOMAL SEVERE COMBINED IMMUNE-DEFICIENCY (SCID), Nature, 377(6544), 1995, pp. 65-68
CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY
Authors: MACCHI P VILLA A STRINA D SACCO MG MORALI F BRUGNONI D GILIANI S MANTUANO E FASTH A ANDERSSON B ZEGERS BJM CAVAGNI G REZNICK I LEVY J ZANBAR I PORAT Y AIRO P PLEBANI A VEZZONI P NOTARANGELO LD
Citation: P. Macchi et al., CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY, American journal of human genetics, 56(4), 1995, pp. 898-906
C TO T MUTATION CAUSING PREMATURE TERMINATION OF CD40 LIGAND AT AMINO-ACID 221 IN A PATIENT AFFECTED BY HYPER IGM SYNDROME
Authors: VILLA A STRINA D MACCHI P PATROSSO MC VEZZONI P TOVO PA GILIANI S UGAZIO AG NOTARANGELO LD
Citation: A. Villa et al., C TO T MUTATION CAUSING PREMATURE TERMINATION OF CD40 LIGAND AT AMINO-ACID 221 IN A PATIENT AFFECTED BY HYPER IGM SYNDROME, Human mutation, 3(1), 1994, pp. 73-75
DEFECTIVE EXPRESSION OF CD40 LIGAND ON T-CELLS CAUSES X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM (HIGM1)
Authors: KROCZEK RA GRAF D BRUGNONI D GILIANI S KORTHAUER U UGAZIO A SENGER G MAGES HW VILLA A NOTARANGELO LD
Citation: Ra. Kroczek et al., DEFECTIVE EXPRESSION OF CD40 LIGAND ON T-CELLS CAUSES X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM (HIGM1), Immunological reviews, 138, 1994, pp. 39-59
ORGANIZATION OF THE HUMAN CD40L GENE - IMPLICATIONS FOR MOLECULAR DEFECTS IN X-CHROMOSOME-LINKED HYPER-IGM SYNDROME AND PRENATAL-DIAGNOSIS
Authors: VILLA A NOTARANGELO LD DISANTO JP MACCHI PP STRINA D FRATTINI A LUCCHINI F PATROSSO CM GILIANI S MANTUANO E AGOSTI S NOCERA G KROCZEK RA FISCHER A UGAZIO AG DESAINTBASILE G VEZZONI P
Citation: A. Villa et al., ORGANIZATION OF THE HUMAN CD40L GENE - IMPLICATIONS FOR MOLECULAR DEFECTS IN X-CHROMOSOME-LINKED HYPER-IGM SYNDROME AND PRENATAL-DIAGNOSIS, Proceedings of the National Academy of Sciences of the United Statesof America, 91(6), 1994, pp. 2110-2114
MOLECULAR ANALYSIS OF THE XP-D GENE IN ITALIAN FAMILIES WITH PATIENTSAFFECTED BY TRICHOTHIODYSTROPHY AND XERODERMA-PIGMENTOSUM GROUP-D
Authors: MONDELLO C NARDO T GILIANI S ARRAND JE WEBER CA LEHMANN AR NUZZO F STEFANINI M
Citation: C. Mondello et al., MOLECULAR ANALYSIS OF THE XP-D GENE IN ITALIAN FAMILIES WITH PATIENTSAFFECTED BY TRICHOTHIODYSTROPHY AND XERODERMA-PIGMENTOSUM GROUP-D, MUTATION RESEARCH, 314(2), 1994, pp. 159-165
INEFFECTIVE EXPRESSION OF CD40 LIGAND ON CORD-BLOOD T-CELLS MAY CONTRIBUTE TO POOR IMMUNOGLOBULIN PRODUCTION IN THE NEWBORN
Authors: BRUGNONI D AIRO P GRAF D MARCONI M LEBOWITZ M PLEBANI A GILIANI S MALACARNE F CATTANEO R UGAZIO AG ALBERTINI A KROCZEK RA NOTARANGELO LD
Citation: D. Brugnoni et al., INEFFECTIVE EXPRESSION OF CD40 LIGAND ON CORD-BLOOD T-CELLS MAY CONTRIBUTE TO POOR IMMUNOGLOBULIN PRODUCTION IN THE NEWBORN, European Journal of Immunology, 24(8), 1994, pp. 1919-1924
APPLICATION OF MOLECULAR ANALYSIS TO GENETIC-COUNSELING IN THE WISKOTT-ALDRICH SYNDROME (WAS)
Authors: NOTARANGELO LD CANDOTTI F PAROLINI O MANTUANO E GILIANI S LANFRANCHI A ALBERTINI A
Citation: Ld. Notarangelo et al., APPLICATION OF MOLECULAR ANALYSIS TO GENETIC-COUNSELING IN THE WISKOTT-ALDRICH SYNDROME (WAS), DNA and cell biology, 12(7), 1993, pp. 645-649
Risultati: 1-25 | 26-27