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Results: 1-25 | 26-50 | 51-75 | 76-95
Results: 1-25/95
METHYLATION ANALYSIS OF THE PWS AS REGION DOES NOT SUPPORT AN ENHANCER-COMPETITION MODEL/
Authors: SCHUMACHER A BUITING K ZESCHNIGK M DOERFLER W HORSTHEMKE B
Citation: A. Schumacher et al., METHYLATION ANALYSIS OF THE PWS AS REGION DOES NOT SUPPORT AN ENHANCER-COMPETITION MODEL/, Nature genetics, 19(4), 1998, pp. 324-325
ASSOCIATION OF A HUMAN G-PROTEIN BETA-3 SUBUNIT VARIANT WITH HYPERTENSION
Authors: SIFFERT W ROSSKOPF D SIFFERT G BUSCH S MORITZ A ERBEL R SHARMA AM RITZ E WICHMANN HE JAKOBS KH HORSTHEMKE B
Citation: W. Siffert et al., ASSOCIATION OF A HUMAN G-PROTEIN BETA-3 SUBUNIT VARIANT WITH HYPERTENSION, Nature genetics, 18(1), 1998, pp. 45-48
MATERNAL MEIOSIS-I NONDISJUNCTION OF CHROMOSOME-15 - DEPENDENCE OF THE MATERNAL AGE EFFECT ON LEVEL OF RECOMBINATION
Authors: ROBINSON WP KUCHINKA BD BERNASCONI F PETERSEN MB SCHULZE A BRONDUMNIELSEN K CHRISTIAN SL LEDBETTER DH SCHINZEL AA HORSTHEMKE B SCHUFFENHAUER S MICHAELIS RC LANGLOIS S HASSOLD TJ
Citation: Wp. Robinson et al., MATERNAL MEIOSIS-I NONDISJUNCTION OF CHROMOSOME-15 - DEPENDENCE OF THE MATERNAL AGE EFFECT ON LEVEL OF RECOMBINATION, Human molecular genetics, 7(6), 1998, pp. 1011-1019
EXPRESSED COPIES OF THE MN7 (D15F37) GENE FAMILY MAP CLOSE TO THE COMMON DELETION BREAKPOINTS IN THE PRADER-WILLI ANGELMAN-SYNDROMES/
Authors: BUITING K GROSS S JI Y SENGER G NICHOLLS RD HORSTHEMKE B
Citation: K. Buiting et al., EXPRESSED COPIES OF THE MN7 (D15F37) GENE FAMILY MAP CLOSE TO THE COMMON DELETION BREAKPOINTS IN THE PRADER-WILLI ANGELMAN-SYNDROMES/, Cytogenetics and cell genetics, 81(3-4), 1998, pp. 247-253
IMPRINTING IN PRADER-WILLI AND ANGELMAN-SYNDROMES
Authors: NICHOLLS RD SAITOH S HORSTHEMKE B
Citation: Rd. Nicholls et al., IMPRINTING IN PRADER-WILLI AND ANGELMAN-SYNDROMES, Trends in genetics, 14(5), 1998, pp. 194-200
IDENTIFICATION OF A SILENCING ELEMENT IN THE HUMAN 15Q11-Q13 IMPRINTING CENTER BY USING TRANSGENIC DROSOPHILA
Authors: LYKO F BUITING K HORSTHEMKE B PARO R
Citation: F. Lyko et al., IDENTIFICATION OF A SILENCING ELEMENT IN THE HUMAN 15Q11-Q13 IMPRINTING CENTER BY USING TRANSGENIC DROSOPHILA, Proceedings of the National Academy of Sciences of the United Statesof America, 95(4), 1998, pp. 1698-1702
GENETIC AND MOLECULAR DIAGNOSTICS IN RETINOBLASTOMA
Authors: LOHMANN D HORSTHEMKE B
Citation: D. Lohmann et B. Horsthemke, GENETIC AND MOLECULAR DIAGNOSTICS IN RETINOBLASTOMA, Klinische Monatsblatter fur Augenheilkunde, 213(4), 1998, pp. 191-196
SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS
Authors: BUITING K DITTRICH B GROSS S LICH C FARBER C BUCHHOLZ T SMITH E REIS A BURGER J NOTHEN MM BARTHWITTE U JANSSEN B ABELIOVICH D LERER I VANDENOUWELAND AMW HALLEY DJJ SCHRANDERSTUMPEL C SMEETS H MEINECKE P MALCOLM S GARDNER A LALANDE M NICHOLLS RD FRIEND K SCHULZE A MATTHIJS G KOKKONEN H HILBERT P VANMALDERGEM L GLOVER G CARBONELL P WILLEMS P GILLESSENKAESBACH G HORSTHEMKE B
Citation: K. Buiting et al., SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS, American journal of human genetics, 63(1), 1998, pp. 170-180
IMPRINTING MUTATIONS ON HUMAN-CHROMOSOME-15
Authors: HORSTHEMKE B DITTRICH B BUITING K
Citation: B. Horsthemke et al., IMPRINTING MUTATIONS ON HUMAN-CHROMOSOME-15, Human mutation, 10(5), 1997, pp. 329-337
A SINGLE-TUBE PCR TEST FOR THE DIAGNOSIS OF ANGELMAN AND PRADER-WILLI-SYNDROME BASED ON ALLELIC METHYLATION DIFFERENCES AT THE SNRPN LOCUS
Authors: ZESCHNIGK M LICH C BUITING K DOERFLER W HORSTHEMKE B
Citation: M. Zeschnigk et al., A SINGLE-TUBE PCR TEST FOR THE DIAGNOSIS OF ANGELMAN AND PRADER-WILLI-SYNDROME BASED ON ALLELIC METHYLATION DIFFERENCES AT THE SNRPN LOCUS, European journal of human genetics, 5(2), 1997, pp. 94-98
ISOLATION OF DNA FROM THE CENTROMERE OF HUMAN-CHROMOSOME-7 BY MICRODISSECTION
Authors: BEHRENS F CLAUSSEN U IYER LM GREEN ED HORSTHEMKE B WILIAMSON R HUXLEY G COUTELLE C
Citation: F. Behrens et al., ISOLATION OF DNA FROM THE CENTROMERE OF HUMAN-CHROMOSOME-7 BY MICRODISSECTION, Chromosome research, 5(4), 1997, pp. 215-220
IMPRINTED SEGMENTS IN THE HUMAN GENOME - DIFFERENT DNA METHYLATION PATTERNS IN THE PRADER-WILLI ANGELMAN SYNDROME REGION AS DETERMINED BY THE GENOMIC SEQUENCING METHOD/
Authors: ZESCHNIGK M SCHMITZ B DITTRICH B BUITING K HORSTHEMKE B DOERFLER W
Citation: M. Zeschnigk et al., IMPRINTED SEGMENTS IN THE HUMAN GENOME - DIFFERENT DNA METHYLATION PATTERNS IN THE PRADER-WILLI ANGELMAN SYNDROME REGION AS DETERMINED BY THE GENOMIC SEQUENCING METHOD/, Human molecular genetics, 6(3), 1997, pp. 387-395
MOLECULAR ANALYSIS AND PREDICTIVE TESTING IN RETINOBLASTOMA - IMPACT ON OPHTHALMOLOGIC ROUTINE
Authors: LOHMANN DR BRANDT B PASSARGE E HORSTHEMKE B
Citation: Dr. Lohmann et al., MOLECULAR ANALYSIS AND PREDICTIVE TESTING IN RETINOBLASTOMA - IMPACT ON OPHTHALMOLOGIC ROUTINE, Der Ophthalmologe, 94(4), 1997, pp. 263-267
GENOMIC ORGANIZATION AND PROMOTER STRUCTURE OF THE HUMAN EXT1 GENE
Authors: LUDECKE HJ AHN J LIN X HILL A WAGNER MJ SCHOMBURG L HORSTHEMKE B WELLS DE
Citation: Hj. Ludecke et al., GENOMIC ORGANIZATION AND PROMOTER STRUCTURE OF THE HUMAN EXT1 GENE, Genomics, 40(2), 1997, pp. 351-354
IDENTIFICATION OF NOVEL EXONS 3' TO THE HUMAN SNRPN GENE
Authors: BUITING K DITTRICH B ENDELE S HORSTHEMKE B
Citation: K. Buiting et al., IDENTIFICATION OF NOVEL EXONS 3' TO THE HUMAN SNRPN GENE, Genomics, 40(1), 1997, pp. 132-137
THE TRICHORHINOPHALANGEAL SYNDROMES - FREQUENCY AND PARENTAL ORIGIN OF 8Q DELETIONS
Authors: NARDMANN J TRANEBJAERG L HORSTHEMKE B LUDECKE HJ
Citation: J. Nardmann et al., THE TRICHORHINOPHALANGEAL SYNDROMES - FREQUENCY AND PARENTAL ORIGIN OF 8Q DELETIONS, Human genetics, 99(5), 1997, pp. 638-643
THE MURINE EXT1 GENE SHOWS A HIGH-LEVEL OF SEQUENCE SIMILARITY WITH ITS HUMAN HOMOLOG AND IS PART OF A CONSERVED LINKAGE GROUP ON CHROMOSOME-15
Authors: LOHMANN DR BUITING K LUDECKE HJ HORSTHEMKE B
Citation: Dr. Lohmann et al., THE MURINE EXT1 GENE SHOWS A HIGH-LEVEL OF SEQUENCE SIMILARITY WITH ITS HUMAN HOMOLOG AND IS PART OF A CONSERVED LINKAGE GROUP ON CHROMOSOME-15, Cytogenetics and cell genetics, 76(3-4), 1997, pp. 164-166
HYPERMETHYLATION IN THE RETINOBLASTOMA GENE IS ASSOCIATED WITH UNILATERAL, SPORADIC RETINOBLASTOMA
Authors: OHTANIFUJITA N DRYJA TP RAPAPORT JM FUJITA T MATSUMURA S OZASA K WATANABE Y HAYASHI K MAEDA K KINOSHITA S MATSUMURA T OHNISHI Y HOTTA Y TAKAHASHI R KATO MV ISHIZAKI K SASAKI MS HORSTHEMKE B MINODA K SAKAI T
Citation: N. Ohtanifujita et al., HYPERMETHYLATION IN THE RETINOBLASTOMA GENE IS ASSOCIATED WITH UNILATERAL, SPORADIC RETINOBLASTOMA, Cancer genetics and cytogenetics, 98(1), 1997, pp. 43-49
IMPRINTING MUTATIONS IN PRADER-WILLI (AND ANGELMAN) SYNDROME EXEMPLIFY A NEW GENETIC MECHANISM
Authors: OHTA T SAITOH S BUITING K GABRIEL JM SCHWARTZ S CASSIDY SB ROGAN PK GLENN CC DRISCOLL DJ HORSTHEMKE B NICHOLLS RD
Citation: T. Ohta et al., IMPRINTING MUTATIONS IN PRADER-WILLI (AND ANGELMAN) SYNDROME EXEMPLIFY A NEW GENETIC MECHANISM, American journal of medical genetics, 73(4), 1997, pp. 4-4
CLINICAL SPECTRUM AND MOLECULAR DIAGNOSIS OF ANGELMAN AND PRADER-WILLI-SYNDROME PATIENTS WITH AN IMPRINTING MUTATION
Authors: SAITOH S BUITING K CASSIDY SB CONROY JM DRISCOLL DJ GABRIEL JM GILLESSENKAESBACH G GLENN CC GREENSWAG LR HORSTHEMKE B KONDO I KUWAJIMA K NIIKAWA N ROGAN PK SCHWARTZ S SEIP J WILLIAMS CA NICHOLLS RD
Citation: S. Saitoh et al., CLINICAL SPECTRUM AND MOLECULAR DIAGNOSIS OF ANGELMAN AND PRADER-WILLI-SYNDROME PATIENTS WITH AN IMPRINTING MUTATION, American journal of medical genetics, 68(2), 1997, pp. 195-206
RB1-MUTATION ANALYSIS IN TUMOR DNA - ASCERTAINMENT OF A CONSTITUTIONAL RB1 GENE MUTATION IN UNILATERAL RETINOBLASTOMA AND SOMATIC MOSAICISMIN A PATIENT WITH BILATERAL DISEASE
Authors: LORENZ B GERIGK M HORSTHEMKE B LOHMANN D
Citation: B. Lorenz et al., RB1-MUTATION ANALYSIS IN TUMOR DNA - ASCERTAINMENT OF A CONSTITUTIONAL RB1 GENE MUTATION IN UNILATERAL RETINOBLASTOMA AND SOMATIC MOSAICISMIN A PATIENT WITH BILATERAL DISEASE, Investigative ophthalmology & visual science, 38(4), 1997, pp. 1815-1815
STRUCTURE AND FUNCTION OF THE HUMAN-CHROMOSOME-15 IMPRINTING CENTER
Authors: HORSTHEMKE B
Citation: B. Horsthemke, STRUCTURE AND FUNCTION OF THE HUMAN-CHROMOSOME-15 IMPRINTING CENTER, Journal of cellular physiology, 173(2), 1997, pp. 237-241
CHARACTERIZATION OF A LARGE TRANSCRIPT ASSOCIATED WITH NEUROMUSCULAR TREMOR, RUNTING, JUVENILE LETHALITY, AND SPERM DEFECTS IN JDF2 MICE
Authors: JI Y WALKOWICZ MJ BUITING K RINCHIK EM AMOSLANDGRAF JM TARVIN RE HORSTHEMKE B JOHNSON DK STUBBS L NICHOLLS RD
Citation: Y. Ji et al., CHARACTERIZATION OF A LARGE TRANSCRIPT ASSOCIATED WITH NEUROMUSCULAR TREMOR, RUNTING, JUVENILE LETHALITY, AND SPERM DEFECTS IN JDF2 MICE, American journal of human genetics, 61(4), 1997, pp. 170-170
MATERNAL AGE AND RECOMBINATION DISTRIBUTION ASSOCIATED WITH CHROMOSOME-15 NONDISJUNCTION
Authors: KUCHINKA BD HASSOLD TJ HORSTHEMKE B LANGLOIS S LEDBETTER DH MICHAELIS RC SCHINZEL A SCHUFFENHAUER S ROBINSON WP
Citation: Bd. Kuchinka et al., MATERNAL AGE AND RECOMBINATION DISTRIBUTION ASSOCIATED WITH CHROMOSOME-15 NONDISJUNCTION, American journal of human genetics, 61(4), 1997, pp. 263-263
MUTATIONAL MOSAICISM IN PATIENTS WITH HEREDITARY RETINOBLASTOMA
Authors: PASSARGE E LOHMANN D YILMAZ S BRANDT B HORSTHEMKE B
Citation: E. Passarge et al., MUTATIONAL MOSAICISM IN PATIENTS WITH HEREDITARY RETINOBLASTOMA, American journal of human genetics, 61(4), 1997, pp. 423-423
Risultati: 1-25 | 26-50 | 51-75 | 76-95