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Results: 1-20 |
Results: 20
POLYMORPHIC DETECTION OF A PARTHENOGENETIC MATERNAL AND DOUBLE PATERNAL CONTRIBUTION TO A 46,XX 46,XY HERMAPHRODITE/
Authors: GILTAY JC BRUNT T BEEMER FA WIT JM VANAMSTEL HKP PEARSON PL WIJMENGA C
Citation: Jc. Giltay et al., POLYMORPHIC DETECTION OF A PARTHENOGENETIC MATERNAL AND DOUBLE PATERNAL CONTRIBUTION TO A 46,XX 46,XY HERMAPHRODITE/, American journal of human genetics, 62(4), 1998, pp. 937-940
THE EUROPEAN CONSORTIUM ON MEN1 - LINKAGE DISEQUILIBRIUM STUDIES IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN1)
Authors: BASSETT JHD PANNETT AAJ FORBES SA THAKKER RV MCCARTHY M READ AP TEH BT LARSSON C KYTOLA S LEISTI J SALMELA P WEBER G GIRAUD S ZHANG CX CALENDER A HOPPENER JWM VANAMSTEL HKP LIPS CJM KAS K VANDEVEN WJM GAUDRAY P
Citation: Jhd. Bassett et al., THE EUROPEAN CONSORTIUM ON MEN1 - LINKAGE DISEQUILIBRIUM STUDIES IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN1), Human genetics, 100(5-6), 1997, pp. 657-665
BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS (BRIC) - EVIDENCE OF GENETIC-HETEROGENEITY AND DELIMITATION OF THE BRIC LOCUS TO A 7-CM INTERVAL BETWEEN D18S69 AND D18S64
Authors: SINKE RJ CARLTON VEH JUIJN JA DELHAAS T BULL L HENEGOUWEN GPV VANHATTUM J KELLER KM SINAASAPPEL M BIJLEVELD CMA KNOL IE VANAMSTEL HKP PEARSON PL BERGER R FREIMER NB HOUWEN RHJ
Citation: Rj. Sinke et al., BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS (BRIC) - EVIDENCE OF GENETIC-HETEROGENEITY AND DELIMITATION OF THE BRIC LOCUS TO A 7-CM INTERVAL BETWEEN D18S69 AND D18S64, Human genetics, 100(3-4), 1997, pp. 382-387
VERY HIGH-FREQUENCY OF THE HIS1069GLN MUTATION IN POLISH WILSON-DISEASE PATIENTS
Authors: CZLONKOWSKA A RODO M GAJDA J VANAMSTEL HKP JUYN J HOUWEN RHJ
Citation: A. Czlonkowska et al., VERY HIGH-FREQUENCY OF THE HIS1069GLN MUTATION IN POLISH WILSON-DISEASE PATIENTS, Journal of neurology, 244(9), 1997, pp. 591-592
MUTATION ANALYSIS FOR PRENATAL-DIAGNOSIS OF HEREDITARY TYROSINEMIA TYPE-1
Authors: MUSTONEN A VANAMSTEL HKP BERGER R SALO MK VIINIKKA L SIMOLA KOJ
Citation: A. Mustonen et al., MUTATION ANALYSIS FOR PRENATAL-DIAGNOSIS OF HEREDITARY TYROSINEMIA TYPE-1, Prenatal diagnosis, 17(10), 1997, pp. 964-966
ANALYSIS OF DNA POLYMORPHISMS IN A PATIENT WITH AMBIGUOUS GENITALIA AND A 46,XX 46,XY MOSAICISM SUGGESTS A HAPLOID MATERNAL GENETIC CONTRIBUTION/
Authors: GILTAY JC BRUNT T BEEMER FA WIT JM VANAMSTEL HKP PEARSON PL WIJMENGA C
Citation: Jc. Giltay et al., ANALYSIS OF DNA POLYMORPHISMS IN A PATIENT WITH AMBIGUOUS GENITALIA AND A 46,XX 46,XY MOSAICISM SUGGESTS A HAPLOID MATERNAL GENETIC CONTRIBUTION/, American journal of human genetics, 61(4), 1997, pp. 716-716
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
THE RELATIONSHIP BETWEEN SPECIFIC RET PROTOONCOGENE MUTATIONS AND DISEASE PHENOTYPE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 - INTERNATIONAL RET MUTATION CONSORTIUM ANALYSIS
Authors: ENG C CLAYTON D SCHUFFENECKER I LENOIR G COTE G GAGEL RF VANAMSTEL HKP LIPS CJM NISHISHO I TAKAI SI MARSH DJ ROBINSON BG FRANKRAUE K RAUE F XUE FY NOLL WW ROMEI C PACINI F FINK M NIEDERLE B ZEDENIUS J NORDENSKJOLD M KOMMINOTH P HENDY GN GHARIB H THIBODEAU SN LACROIX A FRILLING A PONDER BAJ MULLIGAN LM
Citation: C. Eng et al., THE RELATIONSHIP BETWEEN SPECIFIC RET PROTOONCOGENE MUTATIONS AND DISEASE PHENOTYPE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 - INTERNATIONAL RET MUTATION CONSORTIUM ANALYSIS, JAMA, the journal of the American Medical Association, 276(19), 1996, pp. 1575-1579
HOMOZYGOUS DELETION OF EXON-18 LEADS TO DEGRADATION OF THE LYSOSOMAL ALPHA-GLUCOSIDASE PRECURSOR AND TO THE INFANTILE FORM OF GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: AUSEMS MGEM KROOS MA VANDERKRAAN M SMEITINK JAM KLEIJER WJ VANAMSTEL HKP REUSER AJJ
Citation: Mgem. Ausems et al., HOMOZYGOUS DELETION OF EXON-18 LEADS TO DEGRADATION OF THE LYSOSOMAL ALPHA-GLUCOSIDASE PRECURSOR AND TO THE INFANTILE FORM OF GLYCOGEN-STORAGE-DISEASE TYPE-II, Clinical genetics, 49(6), 1996, pp. 325-328
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
FAMILIAL MEDULLARY-THYROID CARCINOMA - NOT A DISTINCT ENTITY - GENOTYPE-PHENOTYPE CORRELATION IN A LARGE FAMILY
Authors: MOERS AMJ LANDSVATER RM SCHAAP C VANVEEN JMJS DEVALK IAJ BLIJHAM GH HOPPENER JWM VROOM TM VANAMSTEL HKP LIPS CJM
Citation: Amj. Moers et al., FAMILIAL MEDULLARY-THYROID CARCINOMA - NOT A DISTINCT ENTITY - GENOTYPE-PHENOTYPE CORRELATION IN A LARGE FAMILY, The American journal of medicine, 101(6), 1996, pp. 635-641
FROM MEDICAL HISTORY AND BIOCHEMICAL TESTS TO PRESYMPTOMATIC TREATMENT IN A LARGE MEN 2A FAMILY
Authors: LIPS CJM LANDSVATER RM HOPPENER JWM GEERDINK RA BLIJHAM GH VANVEEN JMJS FELDBERG MAM VANGILS APG HOOGENBOOM H BERENDS MJH BEEMER FA VANAMSTEL HKP VANVROONHOVEN TJMV VROOM TM
Citation: Cjm. Lips et al., FROM MEDICAL HISTORY AND BIOCHEMICAL TESTS TO PRESYMPTOMATIC TREATMENT IN A LARGE MEN 2A FAMILY, Journal of internal medicine, 238(4), 1995, pp. 347-356
GENOTYPE-PHENOTYPE CORRELATION IN ADULT-ONSET ACID MALTASE DEFICIENCY
Authors: WOKKE JHJ AUSEMS MGEM VANDENBOOGAARD MJH IPPEL EF VANDIGGELEN O KROOS MA BOER M JENNEKENS FGI REUSER AJJ VANAMSTEL HKP
Citation: Jhj. Wokke et al., GENOTYPE-PHENOTYPE CORRELATION IN ADULT-ONSET ACID MALTASE DEFICIENCY, Annals of neurology, 38(3), 1995, pp. 450-454
METACHROMATIC LEUKODYSTROPHY - A 12-BP DELETION IN EXON-2 OF THE ARYLSULFATASE-A GENE IN A LATE INFANTILE VARIANT
Authors: LUYTEN JAFM WENINK PW STEENBERGENSPANJERS GCH WEVERS RA VANAMSTEL HKP DEJONG JGN VANDENHEUVEL LPWJ
Citation: Jafm. Luyten et al., METACHROMATIC LEUKODYSTROPHY - A 12-BP DELETION IN EXON-2 OF THE ARYLSULFATASE-A GENE IN A LATE INFANTILE VARIANT, Human genetics, 96(3), 1995, pp. 357-360
GLYCOGEN-STORAGE-DISEASE TYPE-II - FREQUENCY OF 3 COMMON MUTANT ALLELES AND THEIR ASSOCIATED CLINICAL PHENOTYPES STUDIED IN 121 PATIENTS
Authors: KROOS MA VANDERKRAAN M VANDIGGELEN OP KLEIJER WJ REUSER AJJ VANDENBOOGAARD MJ AUSEMS MGEM VANAMSTEL HKP
Citation: Ma. Kroos et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - FREQUENCY OF 3 COMMON MUTANT ALLELES AND THEIR ASSOCIATED CLINICAL PHENOTYPES STUDIED IN 121 PATIENTS, Journal of Medical Genetics, 32(10), 1995, pp. 836-837
X-LINKED LIVER PHOSPHORYLASE-KINASE DEFICIENCY IS ASSOCIATED WITH MUTATIONS IN THE HUMAN LIVER PHOSPHORYLASE-KINASE ALPHA-SUBUNIT
Authors: VANDENBERG IET VANBEURDEN EACM MALINGRE HEM VANAMSTEL HKP POLLTHE BT SMEITINK JAM LAMERS WH BERGER R
Citation: Iet. Vandenberg et al., X-LINKED LIVER PHOSPHORYLASE-KINASE DEFICIENCY IS ASSOCIATED WITH MUTATIONS IN THE HUMAN LIVER PHOSPHORYLASE-KINASE ALPHA-SUBUNIT, American journal of human genetics, 56(2), 1995, pp. 381-387
STUDIES OF THE INTERACTION BETWEEN HUMAN PROTEIN-S AND HUMAN C4B-BINDING PROTEIN USING DELETION VARIANTS OF RECOMBINANT HUMAN PROTEIN-S
Authors: CHANG CTG MAAS BHA VANAMSTEL HKP REITSMA PH BERTINA RM BOUMA BN
Citation: Ctg. Chang et al., STUDIES OF THE INTERACTION BETWEEN HUMAN PROTEIN-S AND HUMAN C4B-BINDING PROTEIN USING DELETION VARIANTS OF RECOMBINANT HUMAN PROTEIN-S, Thrombosis and haemostasis, 71(4), 1994, pp. 461-467
CLINICAL SCREENING AS COMPARED WITH DNA ANALYSIS IN FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A
Authors: LIPS CJM LANDSVATER RM HOPPENER JWM GEERDINK RA BLIJHAM G VANVEEN JMJS VANGILS APG DEWIT MJ ZEWALD RA BERENDS MJH BEEMER FA BROUWERSSMALBRAAK J JANSEN RPM VANAMSTEL HKP VANVROONHOVEN TJM VROOM TM
Citation: Cjm. Lips et al., CLINICAL SCREENING AS COMPARED WITH DNA ANALYSIS IN FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A, The New England journal of medicine, 331(13), 1994, pp. 828-835
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
3 NOVEL MUTATIONS IN 5 UNRELATED SUBJECTS WITH HEREDITARY PROTEIN-S DEFICIENCY TYPE-1
Authors: REITSMA PH VANAMSTEL HKP BERTINA RM
Citation: Ph. Reitsma et al., 3 NOVEL MUTATIONS IN 5 UNRELATED SUBJECTS WITH HEREDITARY PROTEIN-S DEFICIENCY TYPE-1, The Journal of clinical investigation, 93(2), 1994, pp. 486-492
Risultati: 1-20 |