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Results: 1-25 | 26-40
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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
GENOMIC ORGANIZATION AND PARTIAL DUPLICATION OF THE HUMAN ALPHA-7 NEURONAL NICOTINIC ACETYLCHOLINE-RECEPTOR GENE (CHRNA7)
Authors: GAULT J ROBINSON M BERGER R DREBING C LOGEL J HOPKINS J MOORE T JACOBS S MERIWETHER J CHOI MJ KIM EJ WALTON K BUITING K DAVIS A BREESE C FREEDMAN R LEONARD S
Citation: J. Gault et al., GENOMIC ORGANIZATION AND PARTIAL DUPLICATION OF THE HUMAN ALPHA-7 NEURONAL NICOTINIC ACETYLCHOLINE-RECEPTOR GENE (CHRNA7), Genomics (San Diego, Calif.), 52(2), 1998, pp. 173-185
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
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
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
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
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 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
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
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
MOLECULAR ANALYSIS IN 2 LARGE AS IMPRINTING MUTATION (IM) FAMILIES AND IDENTIFICATION OF MICRODELETION JUNCTIONS IN AS AND PWS IM FAMILIES
Authors: OHTA T BUITING K KOKKONEN H SAITOH S MCCANDLESS S CASSIDY SB DRISCOLL DJ HORSTHEMKE B NICHOLLS RD
Citation: T. Ohta et al., MOLECULAR ANALYSIS IN 2 LARGE AS IMPRINTING MUTATION (IM) FAMILIES AND IDENTIFICATION OF MICRODELETION JUNCTIONS IN AS AND PWS IM FAMILIES, American journal of human genetics, 61(4), 1997, pp. 1850-1850
BALANCED TRANSLOCATION 46,XY,T(2-15)(Q37.2-Q11.2) ASSOCIATED WITH ATYPICAL PRADER-WILLI-SYNDROME
Authors: CONROY JM GREBE TA BECKER LA TSUCHIYA K NICHOLLS RD BUITING K HORSTHEMKE B CASSIDY SB SCHWARTZ S
Citation: Jm. Conroy et al., BALANCED TRANSLOCATION 46,XY,T(2-15)(Q37.2-Q11.2) ASSOCIATED WITH ATYPICAL PRADER-WILLI-SYNDROME, American journal of human genetics, 61(2), 1997, pp. 388-394
DIFFERENT MECHANISMS AND RECURRENCE RISKS OF IMPRINTING DEFECTS IN ANGELMAN-SYNDROME
Authors: BURGER J BUITING K DITTRICH B GROSS S LICH C SPERLING K HORSTHEMKE B REIS A
Citation: J. Burger et al., DIFFERENT MECHANISMS AND RECURRENCE RISKS OF IMPRINTING DEFECTS IN ANGELMAN-SYNDROME, American journal of human genetics, 61(1), 1997, pp. 88-93
IMPRINT SWITCHING ON HUMAN-CHROMOSOME-15 MAY INVOLVE ALTERNATIVE TRANSCRIPTS OF THE SNRPN GENE
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
A FAMILIAL DELETION IN THE PRADER-WILLI-SYNDROME REGION INCLUDING THEIMPRINTING CONTROL REGION
Authors: SCHUFFENHAUER S BUCHHOLZ T STENGELRUTKOWSKI S BUITING K SCHMIDT H MEITINGER T
Citation: S. Schuffenhauer et al., A FAMILIAL DELETION IN THE PRADER-WILLI-SYNDROME REGION INCLUDING THEIMPRINTING CONTROL REGION, Human mutation, 8(3), 1996, pp. 288-292
A PSEUDOGENE FOR THE HUMAN RIBOSOMAL-PROTEIN-L5 (RPL5P1) MAPS WITHIN AN INTRON OF THE SNRPN TRANSCRIPTION UNIT ON HUMAN-CHROMOSOME-15
Authors: BUITING K KAYAWESTERLOH S HORSTHEMKE B
Citation: K. Buiting et al., A PSEUDOGENE FOR THE HUMAN RIBOSOMAL-PROTEIN-L5 (RPL5P1) MAPS WITHIN AN INTRON OF THE SNRPN TRANSCRIPTION UNIT ON HUMAN-CHROMOSOME-15, Cytogenetics and cell genetics, 75(4), 1996, pp. 224-226
MECHANISMS INVOLVED IN PRADER-WILLI AND ANGELMAN SYNDROME (VOL 64, PG573, 1996)
Authors: NICHOLLS RD AMOSLANDGRAF J WANDSTRAT AE SCHWARTZ S CASSIDY SB JI Y DRISCOLL DJ GLENN CC SUN Y PALMER CG BUITING K HORSTHEMKE B SAITOH S
Citation: Rd. Nicholls et al., MECHANISMS INVOLVED IN PRADER-WILLI AND ANGELMAN SYNDROME (VOL 64, PG573, 1996), American journal of medical genetics, 66(2), 1996, pp. 244-244
AN UNUSUAL TRANSLOCATION WITHIN THE PRADER-WILLI ANGELMAN SYNDROME CRITICAL REGION IN 15Q11-15Q13 ASSOCIATED WITH CLINICAL PRADER-WILLI-SYNDROME/
Authors: SCHWARTZ S GREBE T WOLFF D BECKER L CONROY J NICHOLLS RD HORSTHEMKE B BUITING K CASSIDY SB
Citation: S. Schwartz et al., AN UNUSUAL TRANSLOCATION WITHIN THE PRADER-WILLI ANGELMAN SYNDROME CRITICAL REGION IN 15Q11-15Q13 ASSOCIATED WITH CLINICAL PRADER-WILLI-SYNDROME/, American journal of medical genetics, 64(4), 1996, pp. 3-3
PW71 METHYLATION TEST FOR PRADER-WILLI AND ANGELMAN SYNDROMES
Authors: DITTRICH B BUITING K HORSTHEMKE B
Citation: B. Dittrich et al., PW71 METHYLATION TEST FOR PRADER-WILLI AND ANGELMAN SYNDROMES, American journal of medical genetics, 61(2), 1996, pp. 196-197
MINIMAL DEFINITION OF THE IMPRINTING CENTER AND FIXATION OF A CHROMOSOME 15Q11-Q13 EPIGENOTYPE BY IMPRINTING MUTATIONS
Authors: SAITOH S BUITING K ROGAN PK BUXTON JL DRISCOLL DJ ARNEMANN J KONIG R MALCOLM S HORSTHEMKE B NICHOLLS RD
Citation: S. Saitoh et al., MINIMAL DEFINITION OF THE IMPRINTING CENTER AND FIXATION OF A CHROMOSOME 15Q11-Q13 EPIGENOTYPE BY IMPRINTING MUTATIONS, Proceedings of the National Academy of Sciences of the United Statesof America, 93(15), 1996, pp. 7811-7815
FAMILIAL TRANSLOCATIONS INVOLVING 15Q11-Q13 CAN GIVE RISE TO INTERSTITIAL DELETIONS CAUSING PRADER-WILLI OR ANGELMAN SYNDROME
Authors: HORSTHEMKE B MAATKIEVIT A SLEEGERS E VANDENOUWELAND A BUITING K LICH C MOLLEVANGER P BEVERSTOCK G GILLESSENKAESBACH G SCHWANITZ G
Citation: B. Horsthemke et al., FAMILIAL TRANSLOCATIONS INVOLVING 15Q11-Q13 CAN GIVE RISE TO INTERSTITIAL DELETIONS CAUSING PRADER-WILLI OR ANGELMAN SYNDROME, Journal of Medical Genetics, 33(10), 1996, pp. 848-851
INHERITED MICRODELETIONS IN THE ANGELMAN AND PRADER-WILLI SYNDROMES DEFINE AN IMPRINTING CENTER ON HUMAN-CHROMOSOME-15
Authors: BUITING K SAITOH S GROSS S DITTRICH B SCHWARTZ S NICHOLLS RD HORSTHEMKE B
Citation: K. Buiting et al., INHERITED MICRODELETIONS IN THE ANGELMAN AND PRADER-WILLI SYNDROMES DEFINE AN IMPRINTING CENTER ON HUMAN-CHROMOSOME-15, Nature genetics, 9(4), 1995, pp. 395-400
Risultati: 1-25 | 26-40