AAAAAA

   
Results: 1-25 | 26-50 | 51-61
Results: 1-25/61
ATM GERMLINE MUTATIONS IN CLASSICAL ATAXIA-TELANGIECTASIA PATIENTS INTHE DUTCH POPULATION
Authors: BROEKS A DEKLEIN A FLOORE AN MUIJTJENS M KLEIJER WJ JASPERS NG VANTVEER LJ
Citation: A. Broeks et al., ATM GERMLINE MUTATIONS IN CLASSICAL ATAXIA-TELANGIECTASIA PATIENTS INTHE DUTCH POPULATION, Human mutation, 12(5), 1998, pp. 330-337
GLYCOGEN-STORAGE-DISEASE TYPE-II - GENETIC AND BIOCHEMICAL-ANALYSIS OF NOVEL MUTATIONS IN INFANTILE PATIENTS FROM TURKISH ANCESTRY
Authors: HERMANS MMP KROOS MA SMEITINK JAM VANDERPLOEG AT KLEIJER WJ REUSER AJJ
Citation: Mmp. Hermans et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - GENETIC AND BIOCHEMICAL-ANALYSIS OF NOVEL MUTATIONS IN INFANTILE PATIENTS FROM TURKISH ANCESTRY, Human mutation, 11(3), 1998, pp. 209-215
MUTATION ANALYSIS OF SANFILIPPO-B-SYNDROME (MUCOPOLYSACCHARIDOSIS-III-B) PATIENTS REVEALS STRONG ALLELIC HETEROGENEITY
Authors: WEBER B GUO XH KLEIJER WJ HOPWOOD JJ
Citation: B. Weber et al., MUTATION ANALYSIS OF SANFILIPPO-B-SYNDROME (MUCOPOLYSACCHARIDOSIS-III-B) PATIENTS REVEALS STRONG ALLELIC HETEROGENEITY, European journal of human genetics, 6, 1998, pp. 4253-4253
HUMAN BETA-MANNOSIDASE CDNA CHARACTERIZATION AND FIRST IDENTIFICATIONOF A MUTATION ASSOCIATED WITH HUMAN BETA-MANNOSIDOSIS
Authors: ALKHAYAT AH KRAEMER SA LEIPPRANDT JR MACEK M KLEIJER WJ FRIDERICI KH
Citation: Ah. Alkhayat et al., HUMAN BETA-MANNOSIDASE CDNA CHARACTERIZATION AND FIRST IDENTIFICATIONOF A MUTATION ASSOCIATED WITH HUMAN BETA-MANNOSIDOSIS, Human molecular genetics, 7(1), 1998, pp. 75-83
THE P53-MEDIATED DNA-DAMAGE RESPONSE TO IONIZING-RADIATION IN FIBROBLASTS FROM ATAXIA-WITHOUT-TELANGIECTASIA PATIENTS
Authors: JONGMANS W VUILLAUME M KLEIJER WJ LAKIN ND HALL J
Citation: W. Jongmans et al., THE P53-MEDIATED DNA-DAMAGE RESPONSE TO IONIZING-RADIATION IN FIBROBLASTS FROM ATAXIA-WITHOUT-TELANGIECTASIA PATIENTS, International journal of radiation biology, 74(3), 1998, pp. 287-295
GENOTYPE-PHENOTYPE CORRELATIONS IN MUCOPOLYSACCHARIDOSIS TYPE-I USINGENZYME-KINETICS, IMMUNOQUANTIFICATION AND IN-VITRO TURNOVER STUDIES
Authors: BUNGE S CLEMENTS PR BYERS S KLEIJER WJ BROOKS DA HOPWOOD JJ
Citation: S. Bunge et al., GENOTYPE-PHENOTYPE CORRELATIONS IN MUCOPOLYSACCHARIDOSIS TYPE-I USINGENZYME-KINETICS, IMMUNOQUANTIFICATION AND IN-VITRO TURNOVER STUDIES, Biochimica et biophysica acta. Molecular basis of disease, 1407(3), 1998, pp. 249-256
BETA-GLUCURONIDASE DEFICIENCY AS CAUSE OF RECURRENT HYDROPS-FETALIS -THE FIRST EARLY PRENATAL-DIAGNOSIS BY CHORIONIC VILLUS SAMPLING
Authors: VANEYNDHOVEN HWF TERBRUGGE HG VANESSEN AJ KLEIJER WJ
Citation: Hwf. Vaneyndhoven et al., BETA-GLUCURONIDASE DEFICIENCY AS CAUSE OF RECURRENT HYDROPS-FETALIS -THE FIRST EARLY PRENATAL-DIAGNOSIS BY CHORIONIC VILLUS SAMPLING, Prenatal diagnosis, 18(9), 1998, pp. 959-962
IDENTIFICATION OF A COMMON MUTATION (R245H) IN SANFILIPPO-A PATIENTS FROM THE NETHERLANDS
Authors: WEBER B VANDEKAMP JJP KLEIJER WJ GUO XH BLANCH L VANDIGGELEN OP WEVERS R POORTHUIS BJHM HOPWOOD JJ
Citation: B. Weber et al., IDENTIFICATION OF A COMMON MUTATION (R245H) IN SANFILIPPO-A PATIENTS FROM THE NETHERLANDS, Journal of inherited metabolic disease, 21(4), 1998, pp. 416-422
FATAL NEONATAL MALONIC ACIDURIA
Authors: BUYUKGEBIZ B JAKOBS C SCHOLTE HR HUIJMANS JGM KLEIJER WJ
Citation: B. Buyukgebiz et al., FATAL NEONATAL MALONIC ACIDURIA, Journal of inherited metabolic disease, 21(1), 1998, pp. 76-77
CLINICAL HETEROGENEITY AND NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE IN 3 FAMILIES WITH ISOLATED GLYCEROL KINASE-DEFICIENCY
Authors: SJARIF DR SINKE RJ DURAN M BEEMER FA KLEIJER WJ VANAMSTEL JKP POLLTHE BT
Citation: Dr. Sjarif et al., CLINICAL HETEROGENEITY AND NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE IN 3 FAMILIES WITH ISOLATED GLYCEROL KINASE-DEFICIENCY, Journal of Medical Genetics, 35(8), 1998, pp. 650-656
FIBROBLAST SILVER LOADING FOR THE DIAGNOSIS OF MENKES-DISEASE
Authors: VERHEIJEN FW BEERENS CEMT HAVELAAR AC KLEIJER WJ MANCINI GMS
Citation: Fw. Verheijen et al., FIBROBLAST SILVER LOADING FOR THE DIAGNOSIS OF MENKES-DISEASE, Journal of Medical Genetics, 35(10), 1998, pp. 849-851
HOMOZYGOUS R788W POINT MUTATION IN THE XPF GENE OF A PATIENT WITH XERODERMA-PIGMENTOSUM AND LATE-ONSET NEUROLOGIC DISEASE
Authors: SIJBERS AM VADER PCV SNOEK JW RAAMS A JASPERS NGJ KLEIJER WJ
Citation: Am. Sijbers et al., HOMOZYGOUS R788W POINT MUTATION IN THE XPF GENE OF A PATIENT WITH XERODERMA-PIGMENTOSUM AND LATE-ONSET NEUROLOGIC DISEASE, Journal of investigative dermatology, 110(5), 1998, pp. 832-836
CLINICAL, BIOCHEMICAL AND MOLECULAR FINDINGS IN A 2-GENERATION MORQUIO-A FAMILY
Authors: TYLKISZYMANSKA A CZATORYSKA B BUNGE S VANDIGGELEN OP KLEIJER WJ POORTHUIS BJHM HUIJMANS JGM GORSKA D
Citation: A. Tylkiszymanska et al., CLINICAL, BIOCHEMICAL AND MOLECULAR FINDINGS IN A 2-GENERATION MORQUIO-A FAMILY, Clinical genetics, 53(5), 1998, pp. 369-374
GYRATE ATROPHY ASSOCIATED WITH UNUSUAL CLINICAL AND LABORATORY FINDINGS IN 2 SIBLINGS
Authors: KALAYCI D GOKMEN H HASIRIPI H HASANOGLU A KLEIJER WJ
Citation: D. Kalayci et al., GYRATE ATROPHY ASSOCIATED WITH UNUSUAL CLINICAL AND LABORATORY FINDINGS IN 2 SIBLINGS, Annals of ophthalmology. Glaucoma, 29(3), 1997, pp. 193-196
2 EXTREMES OF THE CLINICAL SPECTRUM OF GLYCOGEN-STORAGE-DISEASE TYPE-II IN ONE FAMILY - A MATTER OF GENOTYPE
Authors: KROOS MA VANDERKRAAN M VANDIGGELEN OP KLEIJER WJ REUSER AJJ
Citation: Ma. Kroos et al., 2 EXTREMES OF THE CLINICAL SPECTRUM OF GLYCOGEN-STORAGE-DISEASE TYPE-II IN ONE FAMILY - A MATTER OF GENOTYPE, Human mutation, 9(1), 1997, pp. 17-22
IDENTIFICATION OF 16 SULFAMIDASE GENE-MUTATIONS INCLUDING THE COMMON R74C IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE IIIA (SANFILIPPO-A)
Authors: BUNGE S INCE H STEGLICH C KLEIJER WJ BECK M ZAREMBA J VANDIGGELEN OP WEBER B HOPWOOD JJ GAL A
Citation: S. Bunge et al., IDENTIFICATION OF 16 SULFAMIDASE GENE-MUTATIONS INCLUDING THE COMMON R74C IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE IIIA (SANFILIPPO-A), Human mutation, 10(6), 1997, pp. 479-485
GLUCOCEREBROSIDASE GENOTYPE OF GAUCHER PATIENTS IN THE NETHERLANDS - LIMITATIONS IN PROGNOSTIC VALUE
Authors: BOOT RG HOLLAK CEM VERHOEK M SLOOF P POORTHUIS BJHM KLEIJER WJ WEVERS RA VANOERS MHJ MANNENS MMAM AERTS JMFG VANWEELY S
Citation: Rg. Boot et al., GLUCOCEREBROSIDASE GENOTYPE OF GAUCHER PATIENTS IN THE NETHERLANDS - LIMITATIONS IN PROGNOSTIC VALUE, Human mutation, 10(5), 1997, pp. 348-358
IDENTIFICATION OF 31 NOVEL MUTATIONS IN THE N-ACETYLGALACTOSAMINE-6-SULFATASE GENE REVEALS EXCESSIVE ALLELIC HETEROGENEITY AMONG PATIENTS WITH MORQUIO-A-SYNDROME
Authors: BUNGE S KLEIJER WJ TYLKISZYMANSKA A STEGLICH C BECK M TOMATSU S FUKUDA S POORTHUIS BJHM CZARTORYSKA B ORII T GAL A
Citation: S. Bunge et al., IDENTIFICATION OF 31 NOVEL MUTATIONS IN THE N-ACETYLGALACTOSAMINE-6-SULFATASE GENE REVEALS EXCESSIVE ALLELIC HETEROGENEITY AMONG PATIENTS WITH MORQUIO-A-SYNDROME, Human mutation, 10(3), 1997, pp. 223-232
NOVEL MUTATIONS IN SANFILIPPO-A-SYNDROME - IMPLICATIONS FOR ENZYME FUNCTION
Authors: WEBER B GUO XH WRAITH JE COOPER A KLEIJER WJ BUNGE S HOPWOOD JJ
Citation: B. Weber et al., NOVEL MUTATIONS IN SANFILIPPO-A-SYNDROME - IMPLICATIONS FOR ENZYME FUNCTION, Human molecular genetics, 6(9), 1997, pp. 1573-1579
DOUBLE-STRAND BREAKS MAY INITIATE THE INVERSION MUTATION CAUSING THE HUNTER SYNDROME
Authors: LAGERSTEDT K KARSTEN SL CARLBERG BM KLEIJER WJ TONNESEN T PETTERSSON U BONDESON ML
Citation: K. Lagerstedt et al., DOUBLE-STRAND BREAKS MAY INITIATE THE INVERSION MUTATION CAUSING THE HUNTER SYNDROME, Human molecular genetics, 6(4), 1997, pp. 627-633
2 DISTINCT DELETIONS IN THE IDS GENE AND THE GENE-W - A NOVEL TYPE OFMUTATION ASSOCIATED WITH THE HUNTER-SYNDROME
Authors: KARSTEN SL LAGERSTEDT K CARLBERG BM KLEIJER WJ ZAREMBA J VANDIGGELEN OP CZARTORYSKA B PETTERSSON U BONDESON ML
Citation: Sl. Karsten et al., 2 DISTINCT DELETIONS IN THE IDS GENE AND THE GENE-W - A NOVEL TYPE OFMUTATION ASSOCIATED WITH THE HUNTER-SYNDROME, Genomics, 43(2), 1997, pp. 123-129
MOLECULAR ANALYSIS OF THE BETA-GLUCURONIDASE GENE - NOVEL MUTATIONS IN MUCOPOLYSACCHARIDOSIS TYPE-VII AND HETEROGENEITY OF THE POLYADENYLATION REGION
Authors: VERVOORT R BUIST NRM KLEIJER WJ WEVERS R FRYNS JP LIEBAERS I LISSENS W
Citation: R. Vervoort et al., MOLECULAR ANALYSIS OF THE BETA-GLUCURONIDASE GENE - NOVEL MUTATIONS IN MUCOPOLYSACCHARIDOSIS TYPE-VII AND HETEROGENEITY OF THE POLYADENYLATION REGION, Human genetics, 99(4), 1997, pp. 462-468
THE DUTCH UNIFORM MULTICENTER REGISTRATION SYSTEM FOR GENETIC-DISORDERS AND MALFORMATION SYNDROMES
Authors: ZWAMBORNHANSSEN AMN BIJLSMA JB HENNEKAM EFAM LINDHOUT D BEEMER FA BAKKER E KLEIJER WJ DEFRANCE HF DEDIESMULDERS CEM DURAN M VANGENNIP AH VANMENS JT PEARSON PL MANTEL G VERHAGE RE GERAEDTS JPM
Citation: Amn. Zwambornhanssen et al., THE DUTCH UNIFORM MULTICENTER REGISTRATION SYSTEM FOR GENETIC-DISORDERS AND MALFORMATION SYNDROMES, American journal of medical genetics, 70(4), 1997, pp. 444-447
PREVALENT MUTATIONS IN THE GALC GENE OF PATIENTS WITH KRABBE-DISEASE OF DUTCH AND OTHER EUROPEAN ORIGIN
Authors: KLEIJER WJ KEULEMANS JLM VANDERKRAAN M GEILEN GG VANDERHELM RM RAFI MA LUZI P WENGER DA HALLEY DJJ VANDIGGELEN OP
Citation: Wj. Kleijer et al., PREVALENT MUTATIONS IN THE GALC GENE OF PATIENTS WITH KRABBE-DISEASE OF DUTCH AND OTHER EUROPEAN ORIGIN, Journal of inherited metabolic disease, 20(4), 1997, pp. 587-594
NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE - MOLECULAR AND CLINICAL HETEROGENEITY IN ISOLATED GLYCEROL KINASE-DEFICIENCY
Authors: VANAMSTEL JKP SJARIF DR DURAN M KLEIJER WJ BEEMER FA SINKE RJ POLL BT
Citation: Jkp. Vanamstel et al., NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE - MOLECULAR AND CLINICAL HETEROGENEITY IN ISOLATED GLYCEROL KINASE-DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 2013-2013
Risultati: 1-25 | 26-50 | 51-61