ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-41

Results: 1-25/41

HOST RESPONSE TO EBV INFECTION IN X-LINKED LYMPHOPROLIFERATIVE DISEASE RESULTS FROM MUTATIONS IN AN SH2-DOMAIN ENCODING GENE

Authors: COFFEY AJ BROOKSBANK RA BRANDAU O OOHASHI T HOWELL GR BYE JM CAHN AP DURHAM J HEATH P WRAY P PAVITT R WILKINSON J LEVERSHA M HUCKLE E SHAWSMITH CJ DUNHAM A RHODES S SCHUSTER V PORTA G YIN L SERAFINI P SYLLA B ZOLLO M FRANCO B BOLINO A SERI M LANYI A DAVIS JR WEBSTER D HARRIS A LENOIR G STBASILE GD JONES A BEHLORADSKY BH ACHATZ H MURKEN J FASSLER R SUMEGI J ROMEO G VAUDIN M ROSS MT MEINDL A BENTLEY DR

Citation: Aj. Coffey et al., HOST RESPONSE TO EBV INFECTION IN X-LINKED LYMPHOPROLIFERATIVE DISEASE RESULTS FROM MUTATIONS IN AN SH2-DOMAIN ENCODING GENE, Nature genetics, 20(2), 1998, pp. 129-135

A NEW CANDIDATE REGION FOR THE POSITIONAL CLONING OF THE XLP GENE

Authors: BOLINO A YIN L SERI M CUSANO R CINTI R COFFEY A BROOKSBANK R HOWELL G BENTLEY D DAVIS JR LANYI A HUANG DL STARK M CREAVEN M BJORKHAUG L HEITZMANN F LAMARTINE J GAUDI S SYLLA BS LENOIR GM CASTAGNOLA E GIACCHINO R PORTA G FRANCO B ZOLLO M SUMEGI J ROMEO G

Citation: A. Bolino et al., A NEW CANDIDATE REGION FOR THE POSITIONAL CLONING OF THE XLP GENE, European journal of human genetics, 6(5), 1998, pp. 509-517

LINKAGE ANALYSIS IN 2 LARGE ITALIAN PEDIGREES AFFECTED WITH NAIL-PATELLA SYNDROME

Authors: MELCHIONDA S SERI M CARELLA M PIEMONTESE MR ZHANG XX ZELANTE L ROMEO G GASPARINI P

Citation: S. Melchionda et al., LINKAGE ANALYSIS IN 2 LARGE ITALIAN PEDIGREES AFFECTED WITH NAIL-PATELLA SYNDROME, European journal of human genetics, 6(4), 1998, pp. 345-349

IDENTIFICATION OF A POTENTIAL TRANSCRIPTION REGULATOR MUTATED IN AUTOIMMUNE POLYGLANDULAR DISEASE-1

Authors: ANTONARAKIS SE NAGAMINE K PETERSON P ROSATELLI MC LALIOTI MD MULLIS PE BETTERLE C COHEN A SERI M LERONE M ROMEO G CAO A KUDOH J KROHN KJE SHIMIZU N SCOTT HS

Citation: Se. Antonarakis et al., IDENTIFICATION OF A POTENTIAL TRANSCRIPTION REGULATOR MUTATED IN AUTOIMMUNE POLYGLANDULAR DISEASE-1, European journal of human genetics, 6, 1998, pp. 202-202

GENETIC-MAPPING OF A GENE RESPONSIBLE FOR A NEW RARE AUTOSOMAL-DOMINANT NEURONOPATHY

Authors: SERI M CUSANO R FORABOSCO P CAROLI F PICCO P BINI R MORRA VB LERONE M SILENGO M PELA I BORRONE C ROMEO G DEVOTO M

Citation: M. Seri et al., GENETIC-MAPPING OF A GENE RESPONSIBLE FOR A NEW RARE AUTOSOMAL-DOMINANT NEURONOPATHY, European journal of human genetics, 6, 1998, pp. 4138-4138

A CANDIDATE GENE APPROACH TO IDENTIFY MODIFIERS OF CYSTIC-FIBROSIS PHENOTYPE

Authors: ROMIO L MUSANTE L CINTI R SERI M GALIETTA LJV

Citation: L. Romio et al., A CANDIDATE GENE APPROACH TO IDENTIFY MODIFIERS OF CYSTIC-FIBROSIS PHENOTYPE, European journal of human genetics, 6, 1998, pp. 4259-4259

ASSOCIATION OF MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 AND HIRSCHSPRUNG-DISEASE

Authors: ROMEO G CECCHERINI I CELLI J PRIOLO M BETSOS N BONARDI G SERI M YIN L LERONE M JASONNI V MARTUCCIELLO G

Citation: G. Romeo et al., ASSOCIATION OF MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 AND HIRSCHSPRUNG-DISEASE, Journal of internal medicine, 243(6), 1998, pp. 515-520

A METHOD FOR POINT MUTATION ANALYSIS THAT LINKS SSCP AND DYE PRIMER FLUORESCENT SEQUENCING

Authors: CHIARELLI I PORFIRIO B MATTIUZ PL SERI M CAROLI F CELLI I ROMEO G VOLORIO S ZOLLO M

Citation: I. Chiarelli et al., A METHOD FOR POINT MUTATION ANALYSIS THAT LINKS SSCP AND DYE PRIMER FLUORESCENT SEQUENCING, Molecular and cellular probes, 12(3), 1998, pp. 125-131

COMMON MUTATIONS IN AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS ECTODERMAL DYSTROPHY PATIENTS OF DIFFERENT ORIGINS

Authors: SCOTT HS HEINO M PETERSON P MITTAZ L LALIOTI MD BETTERLE C COHEN A SERI M LERONE M ROMEO G COLLIN P SALO M METCALFE R WEETMAN A PAPASAVVAS MP ROSSIER C NAGAMINE K KUDOH J SHIMIZU N KROHN KJE ANTONARAKIS SE

Citation: Hs. Scott et al., COMMON MUTATIONS IN AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS ECTODERMAL DYSTROPHY PATIENTS OF DIFFERENT ORIGINS, Molecular endocrinology, 12(8), 1998, pp. 1112-1119

REPERTOIRE BREADTH OF HUMAN CD4(-CELLS SPECIFIC FOR HIV GP120 AND P66(PRIMARY ANTIGENS) OR FOR PPD AND TETANUS TOXOID (SECONDARY ANTIGENS)(VOL 59, PG 137, 1998)() T)

Authors: PIRA GL OPPEZZI L SERI M WESTBY M CAROLI F FENOGLIO D LANCIA F FERRARIS A BOTTONE L VALLE MT KUNKL A ROMEO G DALGLEISH AG MANCA F

Citation: Gl. Pira et al., REPERTOIRE BREADTH OF HUMAN CD4(-CELLS SPECIFIC FOR HIV GP120 AND P66(PRIMARY ANTIGENS) OR FOR PPD AND TETANUS TOXOID (SECONDARY ANTIGENS)(VOL 59, PG 137, 1998)() T), Human immunology, 59(7), 1998, pp. 461-461

REPERTOIRE BREADTH OF HUMAN CD4(-CELLS SPECIFIC FOR HIV GP120 AND P66(PRIMARY ANTIGENS) OR FOR PPD AND TETANUS TOXOID (SECONDARY ANTIGENS)() T)

Authors: PIRA GL OPPEZZI L SERI M WESTBY M CAROLI F FENOGLIO D LANCIA F FERRARIS A BOTTONE L VALLE MT KUNKL A ROMEO G DALGLEISH AG MANCA F

Citation: Gl. Pira et al., REPERTOIRE BREADTH OF HUMAN CD4(-CELLS SPECIFIC FOR HIV GP120 AND P66(PRIMARY ANTIGENS) OR FOR PPD AND TETANUS TOXOID (SECONDARY ANTIGENS)() T), Human immunology, 59(3), 1998, pp. 137-148

ECTODERMAL DYSPLASIA, PRIMARY HYPOTHYROIDISM, AND AGENESIS OF THE CORPUS-CALLOSUM - VARIABLE EXPRESSION OF A SINGLE SYNDROME

Authors: SILENGO M SILVESTRO L CAPIZZI G LERONE M SERI M ROSAIA L ROMEO G

Citation: M. Silengo et al., ECTODERMAL DYSPLASIA, PRIMARY HYPOTHYROIDISM, AND AGENESIS OF THE CORPUS-CALLOSUM - VARIABLE EXPRESSION OF A SINGLE SYNDROME, Journal of Medical Genetics, 35(2), 1998, pp. 157-158

FREQUENCY OF RET MUTATIONS IN LONG-SEGMENT AND SHORT-SEGMENT HIRSCHSPRUNG DISEASE

Authors: SERI M YIN L BARONE V BOLINO A CELLI I BOCCIARDI R PASINI B CECCHERINI I LERONE M KRISTOFFERSSON U LARSSON LT CASASA JM CASS DT ABRAMOWICZ MJ VANDERWINDEN JM KRAVCENKIENE I BARIC I SILENGO M MARTUCCIELLO G ROMEO G

Citation: M. Seri et al., FREQUENCY OF RET MUTATIONS IN LONG-SEGMENT AND SHORT-SEGMENT HIRSCHSPRUNG DISEASE, Human mutation, 9(3), 1997, pp. 243-249

STARTLE DISEASE IN AN ITALIAN FAMILY BY MUTATION (K276E) - THE ALPHA-SUBUNIT OF THE INHIBITING GLYCINE RECEPTOR

Authors: SERI M BOLINO A GALIETTA LJV LERONE M SILENGO M ROMEO G

Citation: M. Seri et al., STARTLE DISEASE IN AN ITALIAN FAMILY BY MUTATION (K276E) - THE ALPHA-SUBUNIT OF THE INHIBITING GLYCINE RECEPTOR, Human mutation, 9(2), 1997, pp. 185-187

ASSIGNMENT OF MOUSE GFRA1, THE HOMOLOG OF A NEW HUMAN HSCR CANDIDATE GENE, TO THE TELOMERIC REGION OF MOUSE-CHROMOSOME-19

Authors: PULITI A CINTI R SERI M CECCHERINI I ROMEO G

Citation: A. Puliti et al., ASSIGNMENT OF MOUSE GFRA1, THE HOMOLOG OF A NEW HUMAN HSCR CANDIDATE GENE, TO THE TELOMERIC REGION OF MOUSE-CHROMOSOME-19, Cytogenetics and cell genetics, 78(3-4), 1997, pp. 291-294

MOLECULAR-CLONING AND MAPPING OF A HUMAN CDNA (PA2G4) THAT ENCODES A PROTEIN HIGHLY HOMOLOGOUS TO THE MOUSE-CELL CYCLE PROTEIN P38-2G4

Authors: LAMARTINE J SERI M CINTI R HEITZMANN F CREAVEN M RADOMSKI N JOST E LENOIR GM ROMEO G SYLLA BS

Citation: J. Lamartine et al., MOLECULAR-CLONING AND MAPPING OF A HUMAN CDNA (PA2G4) THAT ENCODES A PROTEIN HIGHLY HOMOLOGOUS TO THE MOUSE-CELL CYCLE PROTEIN P38-2G4, Cytogenetics and cell genetics, 78(1), 1997, pp. 31-35

A CYS634GLY SUBSTITUTION OF THE RET PROTOONCOGENE IN A FAMILY WITH RECURRENCE OF MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A AND CUTANEOUS LICHEN AMYLOIDOSIS

Authors: SERI M CELLI I BETSOS N CLAUDIANI F CAMERA G ROMEO G

Citation: M. Seri et al., A CYS634GLY SUBSTITUTION OF THE RET PROTOONCOGENE IN A FAMILY WITH RECURRENCE OF MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A AND CUTANEOUS LICHEN AMYLOIDOSIS, Clinical genetics, 51(2), 1997, pp. 86-90

PREVALENCE AND PARENTAL ORIGIN OF DE-NOVO RET MUTATIONS IN HIRSCHSPRUNGS-DISEASE

Authors: YIN L SERI M BARONE V TOCCO T SCARANARI M ROMEO G

Citation: L. Yin et al., PREVALENCE AND PARENTAL ORIGIN OF DE-NOVO RET MUTATIONS IN HIRSCHSPRUNGS-DISEASE, European journal of human genetics, 4(6), 1996, pp. 356-358

CHROMOSOMAL LOCALIZATION OF THE GENES (CLNS1A AND CLNS1B) CODING FOR THE SWELLING-DEPENDENT CHLORIDE CHANNEL I-CLN

Authors: NAGL UO ERDEL M SCHMARDA A SERI M PINGGERA GM GSCHWENTNER M DUBA C GALIETTA LJV DEETJEN P UTERMANN G PAULMICHL M

Citation: Uo. Nagl et al., CHROMOSOMAL LOCALIZATION OF THE GENES (CLNS1A AND CLNS1B) CODING FOR THE SWELLING-DEPENDENT CHLORIDE CHANNEL I-CLN, Genomics, 38(3), 1996, pp. 438-441

INHERITANCE OF NIIKAWA-KUROKI (KABUKI MAKEUP) SYNDROME

Authors: SILENGO M LERONE M SERI M ROMEO G

Citation: M. Silengo et al., INHERITANCE OF NIIKAWA-KUROKI (KABUKI MAKEUP) SYNDROME, American journal of medical genetics, 66(3), 1996, pp. 368-368

TIME-DEPENDENT CURRENT DECLINE IN CYCLIC GMP-GATED BOVINE CHANNELS CAUSED BY POINT MUTATIONS IN THE PORE REGION EXPRESSED IN XENOPUS OOCYTES