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Results:
1-19
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Results: 19
Authors:
BUNGE S
RATHMANN M
STEGLICH C
BONDESON ML
TYLKISZYMANSKA A
POPOWSKA E
GAL A
Citation: S. Bunge et al., HOMOLOGOUS NONALLELIC RECOMBINATIONS BETWEEN THE IDURONATE-SULFATASE GENE AND PSEUDOGENE CAUSE VARIOUS INTRAGENIC DELETIONS AND INVERSIONS IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II, European journal of human genetics, 6(5), 1998, pp. 492-500
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
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
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
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
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
Authors:
BUNGE S
Citation: S. Bunge, THE HANDBOOK OF PARENTING - BORNSTEIN,MH, Journal of developmental and behavioral pediatrics, 18(5), 1997, pp. 350-350
Authors:
RATHMANN M
BUNGE S
BECK M
KRESSE H
TYLKISZYMANSKA A
GAL A
Citation: M. Rathmann et al., MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER SYNDROME) - MUTATION HOT-SPOTS IN THE IDURONATE-2-SULFATASE GENE, American journal of human genetics, 59(6), 1996, pp. 1202-1209
Authors:
SCOTT HS
BUNGE S
GAL A
CLARKE LA
MORRIS CP
HOPWOOD JJ
Citation: Hs. Scott et al., MOLECULAR-GENETICS OF MUCOPOLYSACCHARIDOSIS TYPE .1. DIAGNOSTIC, CLINICAL, AND BIOLOGICAL IMPLICATIONS, Human mutation, 6(4), 1995, pp. 288-302
Authors:
BUNGE S
KLEIJER WJ
STEGLICH C
BECK M
SCHWINGER E
GAL A
Citation: S. Bunge et al., MUCOPOLYSACCHARIDOSIS TYPE-I - IDENTIFICATION OF 13 NOVEL MUTATIONS OF THE ALPHA-L-IDURONIDASE GENE, Human mutation, 6(1), 1995, pp. 91-94
Authors:
POPOWSKA E
RATHMANN M
TYLKISZYMANSKA A
BUNGE S
STEGLICH C
SCHWINGER E
GAL A
Citation: E. Popowska et al., MUTATIONS OF THE IDURONATE-2-SULFATASE GENE IN 12 POLISH PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-11 (HUNTER-SYNDROME), Human mutation, 5(1), 1995, pp. 97-100
Authors:
ARTLICH A
BOYSEN A
BUNGE S
ENTZIAN P
SCHLAAK M
SCHWINGER E
Citation: A. Artlich et al., COMMON CFTR MUTATIONS ARE NOT LIKELY TO PREDISPOSE TO CHRONIC-BRONCHITIS IN NORTHERN GERMANY, Human genetics, 95(2), 1995, pp. 226-228
Authors:
RATHMANN M
BUNGE S
STEGLICH C
SCHWINGER E
GAL A
Citation: M. Rathmann et al., EVIDENCE FOR AN IDURONATE-SULFATASE PSEUDOGENE NEAR THE FUNCTIONAL HUNTER SYNDROME GENE IN XQ27.3-Q28, Human genetics, 95(1), 1995, pp. 34-38
Authors:
BUNGE S
KLEIJER WJ
STEGLICH C
BECK M
ZUTHER C
MORRIS CP
SCHWINGER E
HOPWOOD JJ
SCOTT HS
GAL A
Citation: S. Bunge et al., MUCOPOLYSACCHARIDOSIS TYPE-I - IDENTIFICATION OF 8 NOVEL MUTATIONS AND DETERMINATION OF THE FREQUENCY OF THE 2 COMMON ALPHA-1-IDURONIDASE MUTATIONS (W402X AND Q70X) AMONG EUROPEAN PATIENTS, Human molecular genetics, 3(6), 1994, pp. 861-866
Authors:
BUNGE S
STEGLICH C
LORENZ P
BECK M
XU SY
HOPWOOD JJ
GAL A
Citation: S. Bunge et al., PRENATAL-DIAGNOSIS AND CARRIER DETECTION IN MUCOPOLYSACCHARIDOSIS TYPE-II BY MUTATION ANALYSIS - A 47,XXY MALE HETEROZYGOUS FOR A MISSENSE POINT MUTATION, Prenatal diagnosis, 14(9), 1994, pp. 777-780
Authors:
HOPWOOD JJ
BUNGE S
MORRIS CP
WILSON PJ
STEGLICH C
BECK M
SCHWINGER E
GAL A
Citation: Jj. Hopwood et al., MOLECULAR-BASIS OF MUCOPOLYSACCHARIDOSIS TYPE-II - MUTATIONS IN THE IDURONATE-2-SULFATASE GENE, Human mutation, 2(6), 1993, pp. 435-442
Authors:
BUNGE S
STEGLICH C
ZUTHER C
BECK M
MORRIS CP
SCHWINGER E
SCHINZEL A
HOPWOOD JJ
GAL A
Citation: S. Bunge et al., IDURONATE-2-SULFATASE GENE-MUTATIONS IN 16 PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER SYNDROME), Human molecular genetics, 2(11), 1993, pp. 1871-1875
Authors:
BUNGE S
WEDEMANN H
DAVID D
TERWILLIGER DJ
VANDENBORN LI
AULEHLASCHOLZ C
SAMANNS C
HORN M
OTT J
SCHWINGER E
SCHINZEL A
DENTON MJ
GAL A
Citation: S. Bunge et al., MOLECULAR ANALYSIS AND GENETIC-MAPPING OF THE RHODOPSIN GENE IN FAMILIES WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, Genomics, 17(1), 1993, pp. 230-233
Authors:
STEGLICH C
BUNGE S
HULSEBOS T
BECK M
BRANDT NJ
SCHWINGER E
HOPWOOD JJ
GAL A
Citation: C. Steglich et al., MOLECULAR ANALYSIS IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II SUGGESTS THAT DXS466 MAPS WITHIN THE HUNTER GENE, Human genetics, 92(2), 1993, pp. 179-182
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1-19
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