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Results: 1-15 |
Results: 15
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
GENETIC-HETEROGENEITY IN AUTOSOMAL RECESSIVE HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS (CMT4B)
Authors: GAMBARDELLA A BOLINO A MUGLIA M VALENTINO P BONO F OLIVERI RL SABATELLI M BRANCOLINI V VANBROECKHOVEN C ROMEO G DEVOTO M QUATTRONE A
Citation: A. Gambardella et al., GENETIC-HETEROGENEITY IN AUTOSOMAL RECESSIVE HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS (CMT4B), Neurology, 50(3), 1998, pp. 799-801
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
LOCALIZATION OF A GENE RESPONSIBLE FOR AUTOSOMAL RECESSIVE DEMYELINATING NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS TO CHROMOSOME 11Q23 BY HOMOZYGOSITY MAPPING AND HAPLOTYPE SHARING
Authors: BOLINO A BRANCOLINI V BONO F BRUNI A GAMBARDELLA A ROMEO G QUATTRONE A DEVOTO M
Citation: A. Bolino et al., LOCALIZATION OF A GENE RESPONSIBLE FOR AUTOSOMAL RECESSIVE DEMYELINATING NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS TO CHROMOSOME 11Q23 BY HOMOZYGOSITY MAPPING AND HAPLOTYPE SHARING, Human molecular genetics, 5(7), 1996, pp. 1051-1054
AUTOSOMAL RECESSIVE HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS - CLINICAL, ELECTROPHYSIOLOGIC, AND GENETIC-ASPECTS OF A LARGE FAMILY
Authors: QUATTRONE A GAMBARDELLA A BONO F AGUGLIA U BOLINO A BRUNI AC MONTESI MP OLIVERI RL SABATELLI M TAMBURRINI O VALENTINO P VANBROECKHOVEN C ZAPPIA M
Citation: A. Quattrone et al., AUTOSOMAL RECESSIVE HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS - CLINICAL, ELECTROPHYSIOLOGIC, AND GENETIC-ASPECTS OF A LARGE FAMILY, Neurology, 46(5), 1996, pp. 1318-1324
A COMMON MOLECULAR-BASIS FOR 3 INHERITED KIDNEY-STONE DISEASES
Authors: LLOYD SE PEARCE SHS FISHER SE STEINMEYER K SCHWAPPACH B SCHEINMAN SJ HARDING B BOLINO A DEVOTO M GOODYER P RIGDEN SPA WRONG O JENTSCH TJ CRAIG IW THAKKER RV
Citation: Se. Lloyd et al., A COMMON MOLECULAR-BASIS FOR 3 INHERITED KIDNEY-STONE DISEASES, Nature, 379(6564), 1996, pp. 445-449
RET MUTATIONS IN EXON-13 AND EXON-14 OF FMTC PATIENTS
Authors: BOLINO A SCHUFFENECKER I LUO Y SERI M SILENGO M TOCCO T CHABRIER G HOUDENT C MURAT A SCHLUMBERGER M TOURNIAIRE J LENOIR GM ROMEO G
Citation: A. Bolino et al., RET MUTATIONS IN EXON-13 AND EXON-14 OF FMTC PATIENTS, Oncogene, 10(12), 1995, pp. 2415-2419
HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY
Authors: BOLINO A BRANCOLINI V QUATTRONE A GAMBARDELLA A ROMEO G DEVOTO M
Citation: A. Bolino et al., HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY, American journal of human genetics, 57(4), 1995, pp. 1868-1868
DNA POLYMORPHISMS AND CONDITIONS FOR SSCP ANALYSIS OF THE 20 EXONS OFTHE RET PROTOONCOGENE
Authors: CECCHERINI I HOFSTRA RMW LUO Y STULP RP BARONE V STELWAGEN T BOCCIARDI R NIJVEEN H BOLINO A SERI M RONCHETTO P PASINI B BOZZANO M BUYS CHCM ROMEO G
Citation: I. Ceccherini et al., DNA POLYMORPHISMS AND CONDITIONS FOR SSCP ANALYSIS OF THE 20 EXONS OFTHE RET PROTOONCOGENE, Oncogene, 9(10), 1994, pp. 3025-3029
THE GENETICS OF HIRSCHSPRUNG DISEASE AND THE CONCEPT OF PHENOTYPIC DIVERSITY DUE TO ALLELIC SERIES
Authors: ROMEO G LERONE M PASINI B YIN L CECCHERINI I BARONE V BOLINO A SERI M MARTUCCIELLO G
Citation: G. Romeo et al., THE GENETICS OF HIRSCHSPRUNG DISEASE AND THE CONCEPT OF PHENOTYPIC DIVERSITY DUE TO ALLELIC SERIES, Rivista italiana di pediatria, 20(4), 1994, pp. 441-445
A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10
Authors: LYONNET S BOLINO A PELET A ABEL L NIHOULFEKETE C BRIARD ML MOKSIU V KAARIAINEN H MARTUCCIELLO G LERONE M PULITI A LUO Y WEISSENBACH J DEVOTO M MUNNICH A ROMEO G
Citation: S. Lyonnet et al., A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10, Nature genetics, 4(4), 1993, pp. 346-350
DELETED AND NORMAL CHROMOSOME 10 HOMOLOGS FROM A PATIENT WITH HIRSCHSPRUNG DISEASE ISOLATED IN 2 CELL HYBRIDS THROUGH ENRICHMENT BY IMMUNOMAGNETIC SELECTION
Authors: PULITI A COVONE AE BICOCCHI MP BOLINO A LERONE M MARTUCCIELLO G JASONNI V ROMEO G
Citation: A. Puliti et al., DELETED AND NORMAL CHROMOSOME 10 HOMOLOGS FROM A PATIENT WITH HIRSCHSPRUNG DISEASE ISOLATED IN 2 CELL HYBRIDS THROUGH ENRICHMENT BY IMMUNOMAGNETIC SELECTION, Cytogenetics and cell genetics, 63(2), 1993, pp. 102-106
A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION
Authors: DEVOTO M BOLINO A ENIA G ZOCCALI C ROMEO G
Citation: M. Devoto et al., A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION, American journal of human genetics, 53(3), 1993, pp. 993-993
Risultati: 1-15 |