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Results: 1-25 | 26-28
Results: 1-25/28
SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE
Authors: PINGAULT V BONDURAND N KUHLBRODT K GOERICH DE PREHU MO PULITI A HERBARTH B HERMANSBORGMEYER I LEGIUS E MATTHIJS G AMIEL J LYONNET S CECCHERINI I ROMEO G SMITH JC READ AP WEGNER M GOOSSENS M
Citation: V. Pingault et al., SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE, Nature genetics, 18(2), 1998, pp. 171-173
MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE
Authors: PINGAULT V BONDURAND N KUHLBRODT K GOERICH DE PREHU MO PULITI A LEMORT N LEGIUS E MATTHIJS G AMIEL J LYONNET S CECCHERINI I ROMEO G CLAYTONSMITH J READ AP WEGNER M GOOSSENS M
Citation: V. Pingault et al., MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE, European journal of human genetics, 6, 1998, pp. 402-402
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
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
LOCATION OF THE FIRST GENETIC-LOCUS, PKDR1, CONTROLLING AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN HAN-SPRD CY + RAT/
Authors: BIHOREAU MT CECCHERINI I BROWNE J KRANZLIN B ROMEO G LATHROP GM JAMES MR GRETZ N
Citation: Mt. Bihoreau et al., LOCATION OF THE FIRST GENETIC-LOCUS, PKDR1, CONTROLLING AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN HAN-SPRD CY + RAT/, Human molecular genetics, 6(4), 1997, pp. 609-613
SOMATIC IN FRAME DELETIONS NOT INVOLVING JUXTAMEMBRANOUS CYSTEINE RESIDUES STRONGLY ACTIVATE THE RET PROTOONCOGENE
Authors: CECCHERINI I PASINI B PACINI F GULLO M BONGARZONE I ROMEI C SANTAMASIA G MATERA I MONDELLINI P SCOPSI L PINCHERA A PIEROTTI MA ROMEO G
Citation: I. Ceccherini et al., SOMATIC IN FRAME DELETIONS NOT INVOLVING JUXTAMEMBRANOUS CYSTEINE RESIDUES STRONGLY ACTIVATE THE RET PROTOONCOGENE, Oncogene, 14(21), 1997, pp. 2609-2612
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
ACTIVATION OF THE RET PROTOONCOGENE BY AN INTERSTITIAL 48 BP DELETIONAFFECTING THE EXTRACELLULAR JUXTAMEMBRANE REGION IN A SPORADIC CASE OF MEDULLARY-THYROID CARCINOMA
Authors: BOCCIARDI R CECCHERINI I SANTAMARIA G SCARANARI M MATERA I MOGRABI B ROSSI B ROMEO G
Citation: R. Bocciardi et al., ACTIVATION OF THE RET PROTOONCOGENE BY AN INTERSTITIAL 48 BP DELETIONAFFECTING THE EXTRACELLULAR JUXTAMEMBRANE REGION IN A SPORADIC CASE OF MEDULLARY-THYROID CARCINOMA, American journal of human genetics, 61(4), 1997, pp. 328-328
RAT MODELS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: GRETZ N KRANZLIN B PEY R SCHIEREN G BACH J OBERMULLER N CECCHERINI I KLOTING I ROHMEISS P BACHMANN S HAFNER M
Citation: N. Gretz et al., RAT MODELS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Nephrology, dialysis, transplantation, 11, 1996, pp. 46-51
RET MUTATIONS IN HUMAN-DISEASE
Authors: PASINI B CECCHERINI I ROMEO G
Citation: B. Pasini et al., RET MUTATIONS IN HUMAN-DISEASE, Trends in genetics, 12(4), 1996, pp. 138-144
SOMATIC MUTATIONS OF THE RET PROTOONCOGENE IN SPORADIC MEDULLARY-THYROID CARCINOMA ARE NOT RESTRICTED TO EXON-16 AND ARE ASSOCIATED WITH TUMOR RECURRENCE
Authors: ROMEI C ELISEI R PINCHERA A CECCHERINI I MOLINARO E MANCUSI F MARTINO E ROMEO G PACINI F
Citation: C. Romei et al., SOMATIC MUTATIONS OF THE RET PROTOONCOGENE IN SPORADIC MEDULLARY-THYROID CARCINOMA ARE NOT RESTRICTED TO EXON-16 AND ARE ASSOCIATED WITH TUMOR RECURRENCE, The Journal of clinical endocrinology and metabolism, 81(4), 1996, pp. 1619-1622
INTERSTITIAL DELETION OF THE ENDOTHELIN-B RECEPTOR GENE IN THE SPOTTING LETHAL (SL) RAT
Authors: CECCHERINI I ZHANG AL MATERA I YANG GC DEVOTO M ROMEO G CASS DT
Citation: I. Ceccherini et al., INTERSTITIAL DELETION OF THE ENDOTHELIN-B RECEPTOR GENE IN THE SPOTTING LETHAL (SL) RAT, Human molecular genetics, 4(11), 1995, pp. 2089-2096
THE PHYSICAL MAP OF THE HUMAN RET PROTOONCOGENE
Authors: PASINI B HOFSTRA RMW YIN L BOCCIARDI R SANTAMARIA G GROOTSCHOLTEN PM CECCHERINI I PATRONE G PRIOLO M BUYS CHCM ROMEO G
Citation: B. Pasini et al., THE PHYSICAL MAP OF THE HUMAN RET PROTOONCOGENE, Oncogene, 11(9), 1995, pp. 1737-1743
GENETIC-MAPPING OF THE RET PROTOONCOGENE ON RAT CHROMOSOME-4
Authors: CANZIAN F USHIJIMA T NAGAO M MATERA I ROMEO G CECCHERINI I
Citation: F. Canzian et al., GENETIC-MAPPING OF THE RET PROTOONCOGENE ON RAT CHROMOSOME-4, Mammalian genome, 6(6), 1995, pp. 433-435
GENDER-DEPENDENT DISEASE SEVERITY IN AUTOSOMAL POLYCYSTIC KIDNEY-DISEASE OF RATS
Authors: GRETZ N CECCHERINI I KRANZLIN B KLOTING I DEVOTO M ROHMEISS P HOCHER B WALDHERR R ROMEO G
Citation: N. Gretz et al., GENDER-DEPENDENT DISEASE SEVERITY IN AUTOSOMAL POLYCYSTIC KIDNEY-DISEASE OF RATS, Kidney international, 48(2), 1995, pp. 496-500
REFINEMENT OF THE GENETIC LOCATION FOR THE 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD2) AND IDENTIFICATION OF NEW POLYMORPHIC MARKERS FROM THE REGION
Authors: MOCHIZUKI T REYNOLDS D MORGAN J CECCHERINI I THIBODEAU SN GERKEN SC KIMBERLING WJ ROMEO G PARFREY P TORRES V SOMLO S
Citation: T. Mochizuki et al., REFINEMENT OF THE GENETIC LOCATION FOR THE 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD2) AND IDENTIFICATION OF NEW POLYMORPHIC MARKERS FROM THE REGION, Journal of the American Society of Nephrology, 5(3), 1994, pp. 631-631
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
GERM-LINE MUTATIONS OF THE RET PROTOONCOGENE IN JAPANESE PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A AND TYPE 2B
Authors: MARUYAMA S IWASHITA T IMAI T FUNAHASHI H CECCHERINI I LUO Y ROMEO G MATSUO S MATSUYAMA N TAKAHASHI M
Citation: S. Maruyama et al., GERM-LINE MUTATIONS OF THE RET PROTOONCOGENE IN JAPANESE PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A AND TYPE 2B, Japanese journal of cancer research, 85(9), 1994, pp. 879-882
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
IDENTIFICATION OF THE CYS634-]TYR MUTATION OF THE RET PROTOONCOGENE IN A PEDIGREE WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A AND LOCALIZED CUTANEOUS LICHEN AMYLOIDOSIS
Authors: CECCHERINI I ROMEI C BARONE V PACINI F MARTINO E LOVISELLI A PINCHERA A ROMEO G
Citation: I. Ceccherini et al., IDENTIFICATION OF THE CYS634-]TYR MUTATION OF THE RET PROTOONCOGENE IN A PEDIGREE WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A AND LOCALIZED CUTANEOUS LICHEN AMYLOIDOSIS, Journal of endocrinological investigation, 17(3), 1994, pp. 201-204
TREATMENT OF PRECLINICAL MEDULLARY-THYROID CARCINOMA IN MEN 2A GENE CARRIER
Authors: PACINI F MARTINO E ROMEI C CECCHERINI I BASOLO F IACCONI P PINCHERA A
Citation: F. Pacini et al., TREATMENT OF PRECLINICAL MEDULLARY-THYROID CARCINOMA IN MEN 2A GENE CARRIER, Lancet, 344(8929), 1994, pp. 1084-1085
A MUTATION IN THE RET PROTOONCOGENE ASSOCIATED WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-2B AND SPORADIC MEDULLARY-THYROID CARCINOMA
Authors: HOFSTRA RMW LANDSVATER RM CECCHERINI I STULP RP STELWAGEN T LUO Y PASINI B HOPPENER JWM VANAMSTEL HKP ROMEO G LIPS CJM BUYS CHCM
Citation: Rmw. Hofstra et al., A MUTATION IN THE RET PROTOONCOGENE ASSOCIATED WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-2B AND SPORADIC MEDULLARY-THYROID CARCINOMA, Nature, 367(6461), 1994, pp. 375-376
POINT MUTATIONS AFFECTING THE TYROSINE KINASE DOMAIN OF THE RET PROTOONCOGENE IN HIRSCHPRUNGS DISEASE
Authors: ROMEO G RONCHETTO P LUO Y BARONE V SERI M CECCHERINI I PASINI B BOCCIARDI R LERONE M KAARIAINEN H MARTUCCIELLO G
Citation: G. Romeo et al., POINT MUTATIONS AFFECTING THE TYROSINE KINASE DOMAIN OF THE RET PROTOONCOGENE IN HIRSCHPRUNGS DISEASE, Nature, 367(6461), 1994, pp. 377-378
CLOSE LINKAGE WITH THE RET PROTOONCOGENE AND BOUNDARIES OF DELETION MUTATIONS IN AUTOSOMAL-DOMINANT HIRSCHSPRUNG DISEASE
Authors: LUO Y CECCHERINI I PASINI B MATERA I BICOCCHI MP BARONE V BOCCIARDI R KAARIAINEN H WEBER D DEVOTO M ROMEO G
Citation: Y. Luo et al., CLOSE LINKAGE WITH THE RET PROTOONCOGENE AND BOUNDARIES OF DELETION MUTATIONS IN AUTOSOMAL-DOMINANT HIRSCHSPRUNG DISEASE, Human molecular genetics, 2(11), 1993, pp. 1803-1808
MOLECULAR ANALYSIS OF MUTATIONS IN THE HPRT GENE IN CIRCULATING LYMPHOCYTES FROM NORMAL AND DNA-REPAIR-DEFICIENT DONORS
Authors: STEINGRIMSDOTTIR H ROWLEY G WAUGH A BEARE D CECCHERINI I COLE J LEHMANN AR
Citation: H. Steingrimsdottir et al., MOLECULAR ANALYSIS OF MUTATIONS IN THE HPRT GENE IN CIRCULATING LYMPHOCYTES FROM NORMAL AND DNA-REPAIR-DEFICIENT DONORS, MUTATION RESEARCH, 294(1), 1993, pp. 29-41
Risultati: 1-25 | 26-28