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Results: 1-25 | 26-29
Results: 1-25/29
INVESTIGATION OF THE GENES FOR RET AND ITS LIGAND COMPLEX, GDNF GFR-ALPHA-1, IN SMALL-CELL LUNG-CARCINOMA/
Authors: MULLIGAN LM TIMMER T IVANCHUK SM CAMPLING BG YOUNG LC RABBITTS PH SUNDARESAN V HOFSTRA RMW ENG C
Citation: Lm. Mulligan et al., INVESTIGATION OF THE GENES FOR RET AND ITS LIGAND COMPLEX, GDNF GFR-ALPHA-1, IN SMALL-CELL LUNG-CARCINOMA/, Genes, chromosomes & cancer, 21(4), 1998, pp. 326-332
LOSS OF FUNCTION MUTATION IN THE ENDOTHELIN-CONVERTING ENZYME-1 (ECE1) IN A PATIENT WITH HIRSCHSPRUNG-DISEASE AND CARDIAC DEFECTS
Authors: HOFSTRA RMW VALDENAIRE O ARCH E OSINGA J MEIJERS C BUYS CHCM
Citation: Rmw. Hofstra et al., LOSS OF FUNCTION MUTATION IN THE ENDOTHELIN-CONVERTING ENZYME-1 (ECE1) IN A PATIENT WITH HIRSCHSPRUNG-DISEASE AND CARDIAC DEFECTS, European journal of human genetics, 6, 1998, pp. 403-403
A NEW RECURRENT MUTATION IN EXON-10 OF BRCA2 IN THE DUTCH POPULATION
Authors: VANDERHOUT AH TENBERGE A BURTON M OOSTERWIJK JC SIJMONS R HOFSTRA RMW BUYS CHCM
Citation: Ah. Vanderhout et al., A NEW RECURRENT MUTATION IN EXON-10 OF BRCA2 IN THE DUTCH POPULATION, European journal of human genetics, 6, 1998, pp. 1039-1039
SOMATIC AND GERMLINE MOSAICISM OF A POINT MUTATION IN THE DYSTROPHIN GENE
Authors: VANESSEN AJ MULDER IM VANDERVLIES PJ HOFSTRA RMW BUYS CHCM
Citation: Aj. Vanessen et al., SOMATIC AND GERMLINE MOSAICISM OF A POINT MUTATION IN THE DYSTROPHIN GENE, European journal of human genetics, 6, 1998, pp. 4140-4140
3 NOVEL KCNA1 MUTATIONS IN EPISODIC ATAXIA TYPE-I FAMILIES (VOL 102, PG 464, 1998)
Authors: SCHEFFER H BRUNT ERP MOL GJJ VANDERVLIES P STULP RP VERLIND E MANTEL G AVERYANOV YN HOFSTRA RMW BUYS CHCM
Citation: H. Scheffer et al., 3 NOVEL KCNA1 MUTATIONS IN EPISODIC ATAXIA TYPE-I FAMILIES (VOL 102, PG 464, 1998), Human genetics, 102(6), 1998, pp. 713-713
3 NOVEL KCNA1 MUTATIONS IN EPISODIC ATAXIA TYPE-I FAMILIES
Authors: SCHEFFER H BRUNT ERP MOL GJJ VANDERVLIES P STULP RP VERLIND E MANTEL G AVERYANOV YN HOFSTRA RMW BUYS CHCM
Citation: H. Scheffer et al., 3 NOVEL KCNA1 MUTATIONS IN EPISODIC ATAXIA TYPE-I FAMILIES, Human genetics, 102(4), 1998, pp. 464-466
HOMOZYGOUS ARGININE-72 IN WILD-TYPE P53 AND RISK OF CERVICAL-CANCER
Authors: HAYES VM HOFSTRA RMW BUYS CHCM HOLLEMA H VANDERZEE AGJ
Citation: Vm. Hayes et al., HOMOZYGOUS ARGININE-72 IN WILD-TYPE P53 AND RISK OF CERVICAL-CANCER, Lancet, 352(9142), 1998, pp. 1756-1756
CONSTIPATION AS THE PRESENTING SYMPTOM IN DE-NOVO MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B
Authors: DEKRIJGER RR BROOKS A VANDERHARST E HOFSTRA RMW BRUINING HA MOLENAAR JC MEIJERS C
Citation: Rr. Dekrijger et al., CONSTIPATION AS THE PRESENTING SYMPTOM IN DE-NOVO MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B, Pediatrics (Evanston), 102(2), 1998, pp. 405-408
ONCOLOGICAL IMPLICATIONS OF RET GENE-MUTATIONS IN HIRSCHSPRUNGS-DISEASE
Authors: SIJMONS RH HOFSTRA RMW WIJBURG FA LINKS TP ZWIERSTRA RP VERMEY A ARONSON DC TANSINDHUNATA G BROUWERSSMALBRAAK GJ MAAS SM BUYS CHCM
Citation: Rh. Sijmons et al., ONCOLOGICAL IMPLICATIONS OF RET GENE-MUTATIONS IN HIRSCHSPRUNGS-DISEASE, Gut, 43(4), 1998, pp. 542-547
MSH2 AND MLH1 MUTATIONS IN SPORADIC REPLICATION ERROR-POSITIVE COLORECTAL-CARCINOMA AS ASSESSED BY 2-DIMENSIONAL DNA ELECTROPHORESIS
Authors: WU Y NYSTROMLAHTI M OSINGA J LOOMAN MWG PELTOMAKI P AALTONEN LA DELACHAPELLE A HOFSTRA RMW BUYS CHCM
Citation: Y. Wu et al., MSH2 AND MLH1 MUTATIONS IN SPORADIC REPLICATION ERROR-POSITIVE COLORECTAL-CARCINOMA AS ASSESSED BY 2-DIMENSIONAL DNA ELECTROPHORESIS, Genes, chromosomes & cancer, 18(4), 1997, pp. 269-278
MUTATIONS IN HIRSCHSPRUNG-DISEASE - WHEN DOES A MUTATION CONTRIBUTE TO THE PHENOTYPE
Authors: HOFSTRA RMW OSINGA J BUYS CHCM
Citation: Rmw. Hofstra et al., MUTATIONS IN HIRSCHSPRUNG-DISEASE - WHEN DOES A MUTATION CONTRIBUTE TO THE PHENOTYPE, European journal of human genetics, 5(4), 1997, pp. 180-185
ABSENCE OF MUTATIONS IN THE RET GENE IN ACUTE MYELOID-LEUKEMIA
Authors: VISSER M HOFSTRA RMW STULP RP WU Y BUYS CHCM WILLEMZE R LANDEGENT JE
Citation: M. Visser et al., ABSENCE OF MUTATIONS IN THE RET GENE IN ACUTE MYELOID-LEUKEMIA, Annals of hematology, 75(3), 1997, pp. 87-90
COEXISTENT HIRSCHSPRUNGS-DISEASE AND ESOPHAGEAL ACHALASIA IN MALE SIBLINGS
Authors: KELLY JL MULCAHY TM ORIORDAIN DS BUYS CHCM HOFSTRA RMW MCCARTHY T KIRWAN WO
Citation: Jl. Kelly et al., COEXISTENT HIRSCHSPRUNGS-DISEASE AND ESOPHAGEAL ACHALASIA IN MALE SIBLINGS, Journal of pediatric surgery, 32(12), 1997, pp. 1809-1811
A NOVEL POINT MUTATION IN THE INTRACELLULAR DOMAIN OF THE RET PROTOONCOGENE IN A FAMILY WITH MEDULLARY-THYROID CARCINOMA
Authors: HOFSTRA RMW FATTORUSO O QUADRO L WU Y LIBROIA A VERGA U COLANTUONI V BUYS CHCM
Citation: Rmw. Hofstra et al., A NOVEL POINT MUTATION IN THE INTRACELLULAR DOMAIN OF THE RET PROTOONCOGENE IN A FAMILY WITH MEDULLARY-THYROID CARCINOMA, The Journal of clinical endocrinology and metabolism, 82(12), 1997, pp. 4176-4178
MULTIGENIC INHERITANCE OF HIRSCHSPRUNG-DISEASE
Authors: BOLK S PELET A HOFSTRA RMW SALOMON B ANGRIST M BUYS CHCM LYONNET S CHAKRAVARTI A
Citation: S. Bolk et al., MULTIGENIC INHERITANCE OF HIRSCHSPRUNG-DISEASE, American journal of human genetics, 61(4), 1997, pp. 215-215
MUTATION OF THE ENDOTHELIN-3 GENE IN THE WAARDENBURG-HIRSCHSPRUNG DISEASE (SHAH-WAARDENBURG SYNDROME)
Authors: EDERY P ATTIE T AMIEL J PELET A ENG C HOFSTRA RMW MARTELLI H BIDAUD C MUNNICH A LYONNET S
Citation: P. Edery et al., MUTATION OF THE ENDOTHELIN-3 GENE IN THE WAARDENBURG-HIRSCHSPRUNG DISEASE (SHAH-WAARDENBURG SYNDROME), Nature genetics, 12(4), 1996, pp. 442-444
A HOMOZYGOUS MUTATION IN THE ENDOTHELIN-3 GENE ASSOCIATED WITH A COMBINED WAARDENBURG TYPE-2 AND HIRSCHSPRUNG PHENOTYPE (SHAH-WAARDENBURG SYNDROME)
Authors: HOFSTRA RMW OSINGA J TANSINDHUNATA G WU Y KAMSTEEG EJ STULP RP VANRAVENSWAAIJARTS C MAJOORKRAKAUER D ANGRIST M CHAKRAVARTI A MEIJERS C BUYS CHCM
Citation: Rmw. Hofstra et al., A HOMOZYGOUS MUTATION IN THE ENDOTHELIN-3 GENE ASSOCIATED WITH A COMBINED WAARDENBURG TYPE-2 AND HIRSCHSPRUNG PHENOTYPE (SHAH-WAARDENBURG SYNDROME), Nature genetics, 12(4), 1996, pp. 445-447
COMPREHENSIVE AND ACCURATE MUTATION SCANNING OF THE CFTR GENE BY 2-DIMENSIONAL DNA ELECTROPHORESIS
Authors: WU Y HOFSTRA RMW SCHEFFER H UITTERLINDEN AG MULLAART E BUYS CHCM VIJG J
Citation: Y. Wu et al., COMPREHENSIVE AND ACCURATE MUTATION SCANNING OF THE CFTR GENE BY 2-DIMENSIONAL DNA ELECTROPHORESIS, Human mutation, 8(2), 1996, pp. 160-167
NO MUTATIONS FOUND BY RET MUTATION SCANNING IN SPORADIC AND HEREDITARY NEUROBLASTOMA
Authors: HOFSTRA RMW CHENG NC HANSEN C STULP RP STELWAGEN T CLAUSEN N TOMMERUP N CARON H WESTERVELD A VERSTEEG R BUYS CHCM
Citation: Rmw. Hofstra et al., NO MUTATIONS FOUND BY RET MUTATION SCANNING IN SPORADIC AND HEREDITARY NEUROBLASTOMA, Human genetics, 97(3), 1996, pp. 362-364
MUTATION ANALYSIS OF THE RET PROTOONCOGENE IN DUTCH FAMILIES WITH MEN2A, MEN 2B AND FMTC - 2 NOVEL MUTATIONS AND ONE DE-NOVO MUTATION FOR MEN 2A
Authors: LANDSVATER RM JANSEN RPM HOFSTRA RMW BUYS CHCM LIPS CJM VANAMSTEL HKP
Citation: Rm. Landsvater et al., MUTATION ANALYSIS OF THE RET PROTOONCOGENE IN DUTCH FAMILIES WITH MEN2A, MEN 2B AND FMTC - 2 NOVEL MUTATIONS AND ONE DE-NOVO MUTATION FOR MEN 2A, Human genetics, 97(1), 1996, pp. 11-14
RET MUTATION SCREENING IN FAMILIAL CUTANEOUS LICHEN AMYLOIDOSIS AND IN SKIN AMYLOIDOSIS ASSOCIATED WITH MULTIPLE ENDOCRINE NEOPLASIA
Authors: HOFSTRA RMW SIJMONS RH STELWAGEN T STULP RP KOUSSEFF BG LIPS CJM STEIJLEN PM VANVOORSTVADER PC BUYS CHCM
Citation: Rmw. Hofstra et al., RET MUTATION SCREENING IN FAMILIAL CUTANEOUS LICHEN AMYLOIDOSIS AND IN SKIN AMYLOIDOSIS ASSOCIATED WITH MULTIPLE ENDOCRINE NEOPLASIA, Journal of investigative dermatology, 107(2), 1996, pp. 215-218
EXTENSIVE MUTATION SCANNING OF RET IN SPORADIC MEDULLARY-THYROID CARCINOMA AND OF RET AND VHL IN SPORADIC PHEOCHROMOCYTOMA REVEALS INVOLVEMENT OF THESE GENES IN ONLY A MINORITY OF CASES
Authors: HOFSTRA RMW STELWAGEN T STULP RP DEJONG D HULSBEEK M KAMSTEEG EJ VANDENBERG A LANDSVATER RM VERMEY A MOLENAAR WM LIPS CJM BUYS CHCM
Citation: Rmw. Hofstra et al., EXTENSIVE MUTATION SCANNING OF RET IN SPORADIC MEDULLARY-THYROID CARCINOMA AND OF RET AND VHL IN SPORADIC PHEOCHROMOCYTOMA REVEALS INVOLVEMENT OF THESE GENES IN ONLY A MINORITY OF CASES, The Journal of clinical endocrinology and metabolism, 81(8), 1996, pp. 2881-2884
SOMATIC MUTATIONS OF THE RET PROTOONCOGENE ARE NOT REQUIRED FOR TUMOR-DEVELOPMENT IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 (MEN-2) GENE CARRIERS
Authors: LANDSVATER RM DEWIT MJ ZEWALD RA HOFSTRA RMW BUYS CHCM VANAMSTEL HKP HOPPENER JWM LIPS CJM
Citation: Rm. Landsvater et al., SOMATIC MUTATIONS OF THE RET PROTOONCOGENE ARE NOT REQUIRED FOR TUMOR-DEVELOPMENT IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 (MEN-2) GENE CARRIERS, Cancer research, 56(21), 1996, pp. 4853-4855
GENETIC AND BIOCHEMICAL IMPAIRMENT OF MITOCHONDRIAL COMPLEX-I ACTIVITY IN A FAMILY WITH LEBER HEREDITARY OPTIC NEUROPATHY AND HEREDITARY SPASTIC DYSTONIA
Authors: DEVRIES DD WENT LN BRUYN GW SCHOLTE HR HOFSTRA RMW BOLHUIS PA VANOOST BA
Citation: Dd. Devries et al., GENETIC AND BIOCHEMICAL IMPAIRMENT OF MITOCHONDRIAL COMPLEX-I ACTIVITY IN A FAMILY WITH LEBER HEREDITARY OPTIC NEUROPATHY AND HEREDITARY SPASTIC DYSTONIA, American journal of human genetics, 58(4), 1996, pp. 703-711
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
Risultati: 1-25 | 26-29