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Results: 1-12 |
Results: 12
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
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
IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN A RARE AUTOSOMAL RECESSIVE DISORDER - THE EXAMPLE OF THE COLLAGEN TYPE-XVII (COL17A1) LOCUS IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA
Authors: SCHEFFER H STULP RP VERLIND E VANDERMEULEN M BRUCKNERTUDERMAN L GEDDEDAHL T TEMEERMAN GJ SONNENBERG A BUYS CHCM JONKMAN MF
Citation: H. Scheffer et al., IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN A RARE AUTOSOMAL RECESSIVE DISORDER - THE EXAMPLE OF THE COLLAGEN TYPE-XVII (COL17A1) LOCUS IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA, Human genetics, 100(2), 1997, pp. 230-235
IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA (GABEB)
Authors: SCHEFFER H STULP RP VERLIND E BRUCKNERTUDERMAN L GEDDEDAHL T TEMEERMAH GJ SONNENBERG A BUYS CHCM JONKMAN MF
Citation: H. Scheffer et al., IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA (GABEB), Journal of investigative dermatology, 109(3), 1997, pp. 419-419
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
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
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
MUTATION SCREENING OF THE RET, EDNRB AND ET3 GENES IN HIRSCHSPRUNG PATIENTS
Authors: HOFSTRA RMW ANGRIST M OSINGA J STULP RP TAN G KAMSTEEG EJ SCHEFFER H CHAKRAVARTI A BUYS CHCM
Citation: Rmw. Hofstra et al., MUTATION SCREENING OF THE RET, EDNRB AND ET3 GENES IN HIRSCHSPRUNG PATIENTS, American journal of human genetics, 57(4), 1995, pp. 1110-1110
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
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
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