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Results: 1-25/41
Authors:
DREYER SD
ZHOU G
BALDINI A
WINTERPACHT A
ZABEL B
COLE W
JOHNSON RL
LEE B
Citation: Sd. Dreyer et al., MUTATIONS IN LMX1B CAUSE ABNORMAL SKELETAL PATTERNING AND RENAL DYSPLASIA IN NAIL-PATELLA SYNDROME, Nature genetics, 19(1), 1998, pp. 47-50
Authors:
WOLF MTF
LORENZ B
WINTERPACHT A
DRECHSLER M
SCHUMACHER V
ROYERPOKORA B
BLANKENAGEL A
ZABEL B
WILDHARDT G
Citation: Mtf. Wolf et al., 10 NOVEL MUTATIONS FOUND IN ANIRIDIA, Human mutation, 12(5), 1998, pp. 304-313
Authors:
LOBBERT RW
KLEMM G
GRUTTNER HP
HARMS D
WINTERPACHT A
ZABEL BU
Citation: Rw. Lobbert et al., NOVEL WT1 MUTATION, 11P LOH, AND T(7-12) (P22-Q22) CHROMOSOMAL TRANSLOCATION IDENTIFIED IN A WILMS-TUMOR CASE, Genes, chromosomes & cancer, 21(4), 1998, pp. 347-350
Authors:
DREYER SD
CHEN H
ZHOU G
BALDINI A
WINTERPACHT A
ZABEL B
COLE W
OBERG K
JOHNSON R
LEE B
Citation: Sd. Dreyer et al., ISOLATION AND CHARACTERIZATION OF A HUMAN LIM-HOMEODOMAIN GENE AND MUTATION ANALYSIS IN PATIENTS WITH NAIL-PATELLA SYNDROME, European journal of human genetics, 6, 1998, pp. 404-404
Authors:
LOEBBERT RW
SPANGENBERG C
TRUEBENBACH J
WUECHNER C
KLEMM G
WINTERPACHT A
ZABEL BU
Citation: Rw. Loebbert et al., GENE-EXPRESSION STUDIES IN KIDNEY DEVELOPMENT AND WILMS TUMORIGENESIS, European journal of human genetics, 6, 1998, pp. 4180-4180
Authors:
RUDIGER S
BRIEGER J
WEIDT E
ADRYAN B
WINTERPACHT A
BRENNER W
ZABEL B
HUBER C
DECKER HJ
Citation: S. Rudiger et al., ENHANCED ANALYSIS OF DIFFERENTIALLY EXPRESSED TRANSCRIPTS ON HIGH-DENSITY CDNA ARRAYS USING DIGITAL IMAGE-PROCESSING, European journal of human genetics, 6, 1998, pp. 4260-4260
Authors:
DREYER SD
ZHOU L
MACHADO MA
HORTON WA
ZABEL B
WINTERPACHT A
LEE B
Citation: Sd. Dreyer et al., CLONING, CHARACTERIZATION, AND CHROMOSOMAL ASSIGNMENT OF THE HUMAN ORTHOLOG OF MURINE ZFP-37, A CANDIDATE GENE FOR NAGER-SYNDROME, Mammalian genome, 9(6), 1998, pp. 458-462
Authors:
COOPER PR
SMILINICH NJ
DAY CD
NOWAK NJ
REID LH
PEARSALL RS
REECE M
PRAWITT D
LANDERS J
HOUSMAN DE
WINTERPACHT A
ZABEL BU
PELLETIER J
WEISSMAN BE
SHOWS TB
HIGGINS MJ
Citation: Pr. Cooper et al., DIVERGENTLY TRANSCRIBED OVERLAPPING GENES EXPRESSED IN LIVER AND KIDNEY AND LOCATED IN THE 11P15.5 IMPRINTED DOMAIN, Genomics, 49(1), 1998, pp. 38-51
Authors:
SPANGENBERG C
WINTERPACHT A
ZABEL BU
LOBBERT RW
Citation: C. Spangenberg et al., CLONING AND CHARACTERIZATION OF A NOVEL GENE (TM7SF1) ENCODING A PUTATIVE 7-PASS TRANSMEMBRANE PROTEIN THAT IS UP-REGULATED DURING KIDNEY DEVELOPMENT, Genomics, 48(2), 1998, pp. 178-185
Authors:
PIHLAJAMAA T
PROCKOP DJ
FABER J
WINTERPACHT A
ZABEL B
GIEDION A
WIESBAUER P
SPRANGER J
ALAKOKKO L
Citation: T. Pihlajamaa et al., HETEROZYGOUS GLYCINE SUBSTITUTION IN THE COL11A2 GENE IN THE ORIGINALPATIENT WITH THE WEISSENBACHER-ZWEYMULLER-SYNDROME DEMONSTRATES ITS IDENTITY WITH HETEROZYGOUS OSMED (NONOCULAR STICKLER-SYNDROME), American journal of medical genetics, 80(2), 1998, pp. 115-120
Authors:
HILBERT M
HILBERT K
SPRANGER J
WILDHARDT G
WINTERPACHT A
WUCHNER C
ZABEL B
Citation: M. Hilbert et al., HYPOCHONDROPLASIA, ACHONDROPLASIA, AND THANATOPHORIC DYSPLASIA CAUSEDBY MUTATIONS OF THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3-GENE (FGFR3), Monatsschrift fur Kinderheilkunde, 146(7), 1998, pp. 687-691
THE CENTROMERIC NUCLEOLAR CHROMATIN PROTEIN ZFP-37 MAY FUNCTION TO SPECIFY NEURONAL NUCLEAR DOMAINS/
Authors:
PAYEN E
VERKERK T
MICHALOVICH D
DREYER SD
WINTERPACHT A
LEE B
DEZEEUW CI
GROSVELD F
GALJART N
Citation: E. Payen et al., THE CENTROMERIC NUCLEOLAR CHROMATIN PROTEIN ZFP-37 MAY FUNCTION TO SPECIFY NEURONAL NUCLEAR DOMAINS/, The Journal of biological chemistry, 273(15), 1998, pp. 9099-9109
Authors:
RODRIGUEZ P
MUNROE D
PRAWITT D
CHU LL
BRIC E
KIM J
REID LH
DAVIES C
NAKAGAMA H
LOEBBERT R
WINTERPACHT A
PETRUZZI MJ
HIGGINS MJ
NOWAK N
EVANS G
SHOWS T
WEISSMAN BE
ZABEL B
HOUSMAN DE
PELLETIER J
Citation: P. Rodriguez et al., FUNCTIONAL-CHARACTERIZATION OF HUMAN NUCLEOSOME ASSEMBLY PROTEIN-2 (NAP1L4) SUGGESTS A ROLE AS A HISTONE CHAPERONE, Genomics, 44(3), 1997, pp. 253-265
Authors:
WUCHNER C
HILBERT K
ZABEL B
WINTERPACHT A
Citation: C. Wuchner et al., HUMAN FIBROBLAST GROWTH-FACTOR RECEPTOR-3 GENE (FGFR3) - GENOMIC SEQUENCE AND PRIMER SET INFORMATION FOR GENE ANALYSIS, Human genetics, 100(2), 1997, pp. 215-219
Authors:
SPRANGER J
WINTERPACHT A
ZABEL B
Citation: J. Spranger et al., KNIEST DYSPLASIA - DR KNIEST,W., HIS PATIENT, THE MOLECULAR DEFECT, American journal of medical genetics, 69(1), 1997, pp. 79-84
Authors:
GOLLA A
LICHTNER P
VONGERNET S
WINTERPACHT A
FAIRLEY J
MURKEN J
SCHUFFENHAUER S
Citation: A. Golla et al., PHENOTYPIC-EXPRESSION OF THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 (FGFR3) MUTATION P250R IN A LARGE CRANIOSYNOSTOSIS FAMILY, Journal of Medical Genetics, 34(8), 1997, pp. 683-684
Authors:
SCHWERDTLE RF
WINTERPACHT A
STORKEL S
BRENNER W
HOHENFELLNER R
ZABEL B
HUBER C
DECKER HJ
Citation: Rf. Schwerdtle et al., LOSS OF HETEROZYGOSITY STUDIES AND DELETION MAPPING IDENTIFY 2 PUTATIVE CHROMOSOME 14Q TUMOR-SUPPRESSOR LOCI IN RENAL ONCOCYTOMAS, Cancer research, 57(22), 1997, pp. 5009-5012
Authors:
DECKER J
SCHWERDTLE R
PURANAKANITSTHA C
BRIEGER J
WEIDT E
BRENNER W
STORKEL S
WINTERPACHT A
ZABEL B
HUBER C
Citation: J. Decker et al., MULTIFLUORESCENCE MICROSATELLITE ANALYSIS OF 30 CHROMOSOMAL LOCI IN 120 RENAL-CELL CARCINOMAS DEFINES PROGNOSTIC FACTORS, American journal of human genetics, 61(4), 1997, pp. 341-341
Authors:
LOEBBERT RW
SPANGENBERG C
KLEMM G
WINTERPACHT A
ZABEL BU
Citation: Rw. Loebbert et al., WILMS TUMORIGENESIS - SEARCH FOR NOVEL GENETIC-FACTORS, American journal of human genetics, 61(4), 1997, pp. 393-393
Authors:
PRAWITT D
GAERTNER B
HIGGINS M
SHOWS TB
LANDERS J
HOUSMAN DE
PELLETIER J
WINTERPACHT A
ZABEL B
Citation: D. Prawitt et al., CHARACTERIZATION OF TRANSCRIPTS EXPRESSED IN KIDNEY AND DERIVED FROM 11P15.5, A REGION LINKED TO BECKWITH-WIEDEMANN-SYNDROME AND WILMS-TUMOR FORMATION, American journal of human genetics, 61(4), 1997, pp. 428-428
Authors:
DITTRICH B
BUITING K
KORN B
RICKARD S
BUXTON J
SAITOH S
NICHOLLS RD
POUSTKA A
WINTERPACHT A
ZABEL B
HORSTHEMKE B
Citation: B. Dittrich et al., IMPRINT SWITCHING ON HUMAN-CHROMOSOME-15 MAY INVOLVE ALTERNATIVE TRANSCRIPTS OF THE SNRPN GENE, Nature genetics, 14(2), 1996, pp. 163-170
Authors:
POHLENZ J
SCHONBERGER W
WEMME H
WINTERPACHT A
WIRTH S
ZABEL B
Citation: J. Pohlenz et al., NEW POINT MUTATION (R243W) IN THE HORMONE-BINDING DOMAIN OF THE C-ERBA BETA-1 GENE IN A FAMILY WITH GENERALIZED RESISTANCE TO THYROID-HORMONE, Human mutation, 7(1), 1996, pp. 79-81
Authors:
WILDHARDT G
WINTERPACHT A
HILBERT K
MENGER H
ZABEL B
Citation: G. Wildhardt et al., 2 DIFFERENT PAX3 GENE-MUTATIONS CAUSING WAARDENBURG SYNDROME TYPE-I, Molecular and cellular probes, 10(3), 1996, pp. 229-231
Authors:
LOBBERT RW
WINTERPACHT A
SEIPEL B
ZABEL BU
Citation: Rw. Lobbert et al., MOLECULAR-CLONING AND CHROMOSOMAL ASSIGNMENT OF THE HUMAN HOMOLOG OF THE RAT CGMP-INHIBITED PHOSPHODIESTERASE-1 (PDE3A) - A GENE INVOLVED IN FAT-METABOLISM LOCATED AT 11P15.1, Genomics, 37(2), 1996, pp. 211-218
Authors:
ENDELE S
ZABEL B
WINTERPACHT A
Citation: S. Endele et al., ASSIGNMENT OF THE HUMAN DIACYLGLYCEROL KINASE-4 (DAGK4) GENE TO CHROMOSOME 4P16.3, Genomics, 33(1), 1996, pp. 145-146