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Results: 1-16 |
Results: 16
KABUKI-SYNDROME LIKE FEATURES ASSOCIATED WITH XIST EXPRESSION FROM A TINY RING-X
Authors: THIELE H STANKIEWICZ P BALDERMANN C GIANNAKUDIS I KRUGER A SCHLOTE D HANSMANN I SENGER G
Citation: H. Thiele et al., KABUKI-SYNDROME LIKE FEATURES ASSOCIATED WITH XIST EXPRESSION FROM A TINY RING-X, European journal of human genetics, 6, 1998, pp. 1085-1085
THE TWIST GENE IS TRIPLICATED IN TRISOMY 7P SYNDROME
Authors: STANKIEWICZ P BALDERMANN C THIELE E KRUGER A GIANNAKUDIS I WERNER N KUNZ J RAPPOLD G HANSMANN I
Citation: P. Stankiewicz et al., THE TWIST GENE IS TRIPLICATED IN TRISOMY 7P SYNDROME, European journal of human genetics, 6, 1998, pp. 1087-1087
ALAGILLE-SYNDROME DUE TO MUTATIONS WITHIN THE JAG1 GENE
Authors: GIANNAKUDIS I STANKIEWICZ P ROPKE A KRUGER A FRANKE Y VONDERKAMMER S SCHLICKER M SCHLOTE D MURPHY D HANSMANN I
Citation: I. Giannakudis et al., ALAGILLE-SYNDROME DUE TO MUTATIONS WITHIN THE JAG1 GENE, European journal of human genetics, 6, 1998, pp. 4199-4199
CHROMOSOME MAPPING OF RETT-SYNDROME - A LIKELY CANDIDATE REGION ON THE TELOMERE OF XQ
Authors: XIANG FQ ZHANG ZP CLARKE A JOSELUIZ P SAKKUBAI N SAROJINI B DELOZIERBLANCHET CD HANSMANN I EDSTROM L ANVRET M
Citation: Fq. Xiang et al., CHROMOSOME MAPPING OF RETT-SYNDROME - A LIKELY CANDIDATE REGION ON THE TELOMERE OF XQ, Journal of Medical Genetics, 35(4), 1998, pp. 297-300
POSITIONAL CLONING OF THE LOCUS FOR RUSSELL-SILVER-SYNDROME (RSS) ON CHROMOSOME
Authors: DOERR S FAERBER C MIDRO AT LEPASLIER D GIANNAKUDIS J HANSMANN I
Citation: S. Doerr et al., POSITIONAL CLONING OF THE LOCUS FOR RUSSELL-SILVER-SYNDROME (RSS) ON CHROMOSOME, American journal of human genetics, 61(4), 1997, pp. 693-693
LOCALIZATION OF ALAGILLE SYNDROME TO 20P11.2-P12 BY LINKAGE ANALYSIS OF A 3-GENERATION FAMILY
Authors: HOL FA HAMEL BCJ GEURDS MPA HANSMANN I NABBEN FAE DANIELS O MARIMAN ECM
Citation: Fa. Hol et al., LOCALIZATION OF ALAGILLE SYNDROME TO 20P11.2-P12 BY LINKAGE ANALYSIS OF A 3-GENERATION FAMILY, Human genetics, 95(6), 1995, pp. 687-690
MAPPING OF THE GENE FOR THE ALPHA-3 CHAIN OF TYPE-IX COLLAGEN, COL9A3, TO HUMAN-CHROMOSOME 20Q13.3
Authors: TILLER GE WARMAN ML GONG Y KNOLL JHM MANJUNATH NA HANSMANN I BREWTON RG
Citation: Ge. Tiller et al., MAPPING OF THE GENE FOR THE ALPHA-3 CHAIN OF TYPE-IX COLLAGEN, COL9A3, TO HUMAN-CHROMOSOME 20Q13.3, American journal of human genetics, 57(4), 1995, pp. 1987-1987
THE GENE FOR THE AMYLOID PRECURSOR-LIKE PROTEIN-APLP2 IS ASSIGNED TO HUMAN CHROMOSOME-11Q23-Q25
Authors: VONDERKAMMER H LOFFLER C HANES J KLAUDINY J SCHEIT KH HANSMANN I
Citation: H. Vonderkammer et al., THE GENE FOR THE AMYLOID PRECURSOR-LIKE PROTEIN-APLP2 IS ASSIGNED TO HUMAN CHROMOSOME-11Q23-Q25, Genomics, 20(2), 1994, pp. 308-311
REPORT OF THE FIRST ERNATIONAL-WORKSHOP-ON-HUMAN-CHROMOSOME-20-MAPPING 1993 HELD ON SEPTEMBER 6-8, 1993 AT GIF-SUR-YVETTE, FRANCE
Authors: SMITH CL KEITH T HANSMANN I WEISSENBACH J ASIMAKOPOULOS FA BOWDEN DW DELEUZE JF DUTTON ER FASMAN KH GREEN T HADCHOUEL M HAZAN J HILGARTNER S KINGSBURY DK LODER B MALAFOSSE A MEUNIERROTIVAL M PEARSON PL SIRACUSA LD STEINLEIN O WHITE N WILLIAMSON CM
Citation: Cl. Smith et al., REPORT OF THE FIRST ERNATIONAL-WORKSHOP-ON-HUMAN-CHROMOSOME-20-MAPPING 1993 HELD ON SEPTEMBER 6-8, 1993 AT GIF-SUR-YVETTE, FRANCE, Cytogenetics and cell genetics, 66(2), 1994, pp. 77-82
MOLECULAR-STRUCTURE AND CHROMOSOMAL MAPPING OF THE HUMAN HOMOLOG OF THE AGOUTI GENE
Authors: KWON HY BULTMAN SJ LOFFLER C CHEN WJ FURDON PJ POWELL JG USALA AL WILKISON W HANSMANN I WOYCHIK RP
Citation: Hy. Kwon et al., MOLECULAR-STRUCTURE AND CHROMOSOMAL MAPPING OF THE HUMAN HOMOLOG OF THE AGOUTI GENE, Proceedings of the National Academy of Sciences of the United Statesof America, 91(21), 1994, pp. 9760-9764
A MULTILOCUS DNA FINGERPRINT WITH BUILT-IN SECURITY DEVICES
Authors: KRAWCZAK M SCHMIDTKE J EPPLEN JT HANSMANN I THIES U
Citation: M. Krawczak et al., A MULTILOCUS DNA FINGERPRINT WITH BUILT-IN SECURITY DEVICES, Medicine, Science and the Law, 34(3), 1994, pp. 256-262
INTERSTITIAL DELETION OF 22Q11 IN DIGEORGE-SYNDROME DETECTED BY HIGH-RESOLUTION AND MOLECULAR ANALYSIS
Authors: FRANKE UC SCAMBLER PJ LOFFLER C LONS P HANEFELD F ZOLL B HANSMANN I
Citation: Uc. Franke et al., INTERSTITIAL DELETION OF 22Q11 IN DIGEORGE-SYNDROME DETECTED BY HIGH-RESOLUTION AND MOLECULAR ANALYSIS, Clinical genetics, 46(2), 1994, pp. 187-192
CYSTATIN-C (CST3), THE CANDIDATE GENE FOR HEREDITARY CYSTATIN-C AMYLOID ANGIOPATHY (HCCAA), AND OTHER MEMBERS OF THE CYSTATIN GENE FAMILY ARE CLUSTERED ON CHROMOSOME-20P11.2 (VOL 16, PG 50, 1993)
Authors: SCHNITTGER S RAO VVNG ABRAHAMSON M HANSMANN I
Citation: S. Schnittger et al., CYSTATIN-C (CST3), THE CANDIDATE GENE FOR HEREDITARY CYSTATIN-C AMYLOID ANGIOPATHY (HCCAA), AND OTHER MEMBERS OF THE CYSTATIN GENE FAMILY ARE CLUSTERED ON CHROMOSOME-20P11.2 (VOL 16, PG 50, 1993), Genomics, 17(2), 1993, pp. 533-533
HIGH-RESOLUTION MAPPING OF INTERSTITIAL LONG ARM DELETIONS OF CHROMOSOME-16 - RELATIONSHIP TO PHENOTYPE
Authors: CALLEN DF EYRE H LANE S SHEN Y HANSMANN I SPINNER N ZACKAI E MCDONALDMCGINN D SCHUFFENHAUER S WAUTERS J VANTHIENEN MN VANROY B SUTHERLAND GR HAAN EA
Citation: Df. Callen et al., HIGH-RESOLUTION MAPPING OF INTERSTITIAL LONG ARM DELETIONS OF CHROMOSOME-16 - RELATIONSHIP TO PHENOTYPE, Journal of Medical Genetics, 30(10), 1993, pp. 828-832
MOLECULAR MAPPING OF THE ALAGILLE SYNDROME CHROMOSOME REGION AND CONSTRUCTION OF YAC CONTIGS SPANNING THE AGSCR
Authors: HANSMANN I MULLMANN S LOFFLER C GIANNAKUDIS J FRANKE Y WRISCH A PAARMANN I GOODSHIP J LEPASLIER D KEITH T
Citation: I. Hansmann et al., MOLECULAR MAPPING OF THE ALAGILLE SYNDROME CHROMOSOME REGION AND CONSTRUCTION OF YAC CONTIGS SPANNING THE AGSCR, American journal of human genetics, 53(3), 1993, pp. 1299-1299
A 1ST PHYSICAL FISH MAP OF HUMAN CHROMOSOME-20 DISCLOSE COMPLETE HOMOLOGY WITH MOUSE CHROMOSOME-2 AND ASSIGNS CANDIDATE MUTATIONS
Authors: LOFFLER C RAO VVNG SCHNITTGER S PASTUSZAK D SCHUBERT S HANSMANN I
Citation: C. Loffler et al., A 1ST PHYSICAL FISH MAP OF HUMAN CHROMOSOME-20 DISCLOSE COMPLETE HOMOLOGY WITH MOUSE CHROMOSOME-2 AND ASSIGNS CANDIDATE MUTATIONS, American journal of human genetics, 53(3), 1993, pp. 1324-1324
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