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Results: 1-10 |
Results: 10
HOMOLOGOUS NONALLELIC RECOMBINATIONS BETWEEN THE IDURONATE-SULFATASE GENE AND PSEUDOGENE CAUSE VARIOUS INTRAGENIC DELETIONS AND INVERSIONS IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II
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
IDENTIFICATION OF 3 NOVEL OTC GENE-MUTATIONS IN POLISH PATIENTS
Authors: POPOWSKA E CIARA E ROKICKI D PRONICKA E KRAJEWSKAWALASEK M
Citation: E. Popowska et al., IDENTIFICATION OF 3 NOVEL OTC GENE-MUTATIONS IN POLISH PATIENTS, European journal of human genetics, 6, 1998, pp. 4099-4099
MUTATIONS IN 21-HYDROXYLASE GENE AND PRENATAL-DIAGNOSIS IN POLISH FAMILIES WITH CONGENITAL ADRENAL-HYPERPLASIA
Authors: BORUCKAMANKIEWICZ M GORYLUKKOZAKIEWICZ B POPOWSKA E GINALSKAMALINOWSKA M
Citation: M. Boruckamankiewicz et al., MUTATIONS IN 21-HYDROXYLASE GENE AND PRENATAL-DIAGNOSIS IN POLISH FAMILIES WITH CONGENITAL ADRENAL-HYPERPLASIA, European journal of human genetics, 6, 1998, pp. 4101-4101
MOLECULAR ANALYSIS OF 15Q11-13 REGION IN PRADER-WILLI AND ANGELMAN-SYNDROMES
Authors: BIELINSKA B POPOWSKA E KRAJEWSKAWALASEK M
Citation: B. Bielinska et al., MOLECULAR ANALYSIS OF 15Q11-13 REGION IN PRADER-WILLI AND ANGELMAN-SYNDROMES, European journal of human genetics, 6, 1998, pp. 4102-4102
A CASE OF PRADER-WILLI-SYNDROME ARISING AS A RESULT OF FAMILIAL UNBALANCED TRANSLOCATION T(11-15)(Q25-Q13)
Authors: WALASEK MK GUTKOWSKA A BIELINSKA B GORYLUKKOZAKIEWICZ B POPOWSKA E
Citation: Mk. Walasek et al., A CASE OF PRADER-WILLI-SYNDROME ARISING AS A RESULT OF FAMILIAL UNBALANCED TRANSLOCATION T(11-15)(Q25-Q13), Clinical genetics, 54(1), 1998, pp. 60-64
DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP)
Authors: ROWE PSN OUDET CL FRANCIS F SINDING C PANNETIER S ECONS MJ STROM TM MEITINGER T GARABEDIAN M DAVID A MACHER MA QUESTIAUX E POPOWSKA E PRONICKA E READ AP MOKRZYCKI A GLORIEUX FH DREZNER MK HANAUER A LEHRACH H GOULDING JN ORIORDAN JLH
Citation: Psn. Rowe et al., DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP), Human molecular genetics, 6(4), 1997, pp. 539-549
THE MOST USEFUL PROCEDURES IN THE DIAGNOSIS OF PRADER-WILLI AND ANGELMAN-SYNDROMES - COMPARISON OF CYTOGENETIC AND MOLECULAR RESULTS IN 50 PATIENTS
Authors: GUTKOWSKA A BIELINSKA B POPOWSKA E KRAJEWSKAWALASEK M
Citation: A. Gutkowska et al., THE MOST USEFUL PROCEDURES IN THE DIAGNOSIS OF PRADER-WILLI AND ANGELMAN-SYNDROMES - COMPARISON OF CYTOGENETIC AND MOLECULAR RESULTS IN 50 PATIENTS, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 228-228
LINKAGE DISEQUILIBRIUM ANALYSIS IN YOUNG-POPULATIONS - PSEUDO VITAMIN-D DEFICIENCY RICKETS AND THE FOUNDER EFFECT IN FRENCH-CANADIANS
Authors: LABUDA M LABUDA D KORABLASKOWSKA M COLE DEC ZIETKIEWICZ E WEISSENBACH J POPOWSKA E PRONICKA E ROOT AW GLORIEUX FH
Citation: M. Labuda et al., LINKAGE DISEQUILIBRIUM ANALYSIS IN YOUNG-POPULATIONS - PSEUDO VITAMIN-D DEFICIENCY RICKETS AND THE FOUNDER EFFECT IN FRENCH-CANADIANS, American journal of human genetics, 59(3), 1996, pp. 633-643
A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: FRANCIS F HENNIG S KORN B REINHARDT R DEJONG P POUSTKA A LEHRACH H ROWE PSN GOULDING JN SUMMERFIELD T MOUNTFORD R READ AP POPOWSKA E PRONICKA E DAVIES KE ORIORDAN JLH ECONS MJ NESBITT T DREZNER MK OUDET C PANNETIER S HANAUER A STROM TM MEINDL A LORENZ B CAGNOLI M MOHNIKE KL MURKEN J MEITINGER T
Citation: F. Francis et al., A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS, Nature genetics, 11(2), 1995, pp. 130-136
MUTATIONS OF THE IDURONATE-2-SULFATASE GENE IN 12 POLISH PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-11 (HUNTER-SYNDROME)
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
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