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Results: 1-24 |
Results: 24
EVIDENCE AGAINST A MAJOR ROLE OF PEG1 MEST IN SILVER-RUSSELL-SYNDROME/
Authors: RIESEWIJK AM BLAGITKO N SCHINZEL AA HU LD SCHULZ U HAMEL BCJ ROPERS HH KALSCHEUER VM
Citation: Am. Riesewijk et al., EVIDENCE AGAINST A MAJOR ROLE OF PEG1 MEST IN SILVER-RUSSELL-SYNDROME/, European journal of human genetics, 6(2), 1998, pp. 114-120
HIGH-LEVEL OF UNEQUAL MEIOTIC CROSSOVERS AT THE ORIGIN OF THE 22Q11.2AND 7Q11.23 DELETIONS
Authors: BAUMER A DUTLY F BALMER D RIEGEL M TUKEL T KRAJEWSKAWALASEK M SCHINZEL AA
Citation: A. Baumer et al., HIGH-LEVEL OF UNEQUAL MEIOTIC CROSSOVERS AT THE ORIGIN OF THE 22Q11.2AND 7Q11.23 DELETIONS, European journal of human genetics, 6, 1998, pp. 703-703
ISOCHROMOSOMES 12P AND 9P - PARENTAL ORIGIN AND POSSIBLE MECHANISMS OF FORMATION
Authors: DUTLY F BALMER D BAUMER A BINKERT F SCHINZEL AA
Citation: F. Dutly et al., ISOCHROMOSOMES 12P AND 9P - PARENTAL ORIGIN AND POSSIBLE MECHANISMS OF FORMATION, European journal of human genetics, 6, 1998, pp. 4092-4092
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
HIGH-LEVEL OF UNEQUAL MEIOTIC CROSSOVERS AT THE ORIGIN OF THE 22Q11.2AND 7Q11.23 DELETIONS
Authors: BAUMER A DUTLY F BALMER D RIEGEL M TUKEL T KRAJEWSKAWALASEK M SCHINZEL AA
Citation: A. Baumer et al., HIGH-LEVEL OF UNEQUAL MEIOTIC CROSSOVERS AT THE ORIGIN OF THE 22Q11.2AND 7Q11.23 DELETIONS, Human molecular genetics, 7(5), 1998, pp. 887-894
THE MECHANISMS INVOLVED IN FORMATION OF DELETIONS AND DUPLICATIONS OF15Q11-Q13
Authors: ROBINSON WP DUTLY F NICHOLLS RD BERNASCONI F PENAHERRERA M MICHAELIS RC ABELIOVICH D SCHINZEL AA
Citation: Wp. Robinson et al., THE MECHANISMS INVOLVED IN FORMATION OF DELETIONS AND DUPLICATIONS OF15Q11-Q13, Journal of Medical Genetics, 35(2), 1998, pp. 130-136
MOSAICISM BETWEEN MATERNAL HETERODISOMY-16 AND MATERNAL HETERODISOMY 16P13-]QTER COMBINED WITH TRISOMY 16PTER-]P13 ASSOCIATED WITH MENTAL-RETARDATION AND MULTIPLE ANOMALIES
Authors: BRECEVIC L KOTZOT D BINKERT F ROBINSON W DUTLY F AUSSERER B SCHINZEL AA
Citation: L. Brecevic et al., MOSAICISM BETWEEN MATERNAL HETERODISOMY-16 AND MATERNAL HETERODISOMY 16P13-]QTER COMBINED WITH TRISOMY 16PTER-]P13 ASSOCIATED WITH MENTAL-RETARDATION AND MULTIPLE ANOMALIES, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 201-201
THE ORIGIN OF MATERNAL UNIPARENTAL DISOMY-15
Authors: ROBINSON WP LANGLOIS S BERNASCONI F CLARK S CHRISTIAN S LEDBETTER DH GILLESSENKAESBACH G HORSTHEMKE B LERER I ABELIOVICH D MICHAELIS R SCHUFFENHAUER S SCHINZEL AA
Citation: Wp. Robinson et al., THE ORIGIN OF MATERNAL UNIPARENTAL DISOMY-15, American journal of medical genetics, 64(4), 1996, pp. 2-2
A COMPARISON OF PHENOTYPE IN PATIENTS WITH PRADER-WILLI-SYNDROME (PWS) RESULTING FROM INTERSTITIAL DELETION AND UNIPARENTAL DISOMY
Authors: MITCHELL J LANGLOIS S GILLESSENKAESBACH G HORSTHEMKE B MICHAELIS R SCHINZEL AA ABELOVICH S LERER I SCHUFFENHAUER S GUITART M ROBINSON WP
Citation: J. Mitchell et al., A COMPARISON OF PHENOTYPE IN PATIENTS WITH PRADER-WILLI-SYNDROME (PWS) RESULTING FROM INTERSTITIAL DELETION AND UNIPARENTAL DISOMY, American journal of medical genetics, 64(4), 1996, pp. 7-7
MOLECULAR STUDIES OF TRANSLOCATIONS AND TRISOMY INVOLVING CHROMOSOME-13
Authors: ROBINSON WP BERNASCONI F DUTLY F LEFORT G ROMAIN DR BINKERT F SCHINZEL AA
Citation: Wp. Robinson et al., MOLECULAR STUDIES OF TRANSLOCATIONS AND TRISOMY INVOLVING CHROMOSOME-13, American journal of medical genetics, 61(2), 1996, pp. 158-163
THE DYSMORPHIC HUMAN-MOUSE HOMOLOGY DATABASE (DHMHD) - AN INTERACTIVEWORLD-WIDE-WEB RESOURCE FOR GENE-MAPPING
Authors: EVANS CD SEARLE AG SCHINZEL AA WINTER RM
Citation: Cd. Evans et al., THE DYSMORPHIC HUMAN-MOUSE HOMOLOGY DATABASE (DHMHD) - AN INTERACTIVEWORLD-WIDE-WEB RESOURCE FOR GENE-MAPPING, Journal of Medical Genetics, 33(4), 1996, pp. 289-294
NORMAL PHENOTYPE WITH MATERNAL ISODISOMY IN A FEMALE WITH 2 ISOCHROMOSOMES - I(2P) AND I(2Q)
Authors: BERNASCONI F KARAGUZEL A CELEP F KESER I LULECI G DUTLY F SCHINZEL AA
Citation: F. Bernasconi et al., NORMAL PHENOTYPE WITH MATERNAL ISODISOMY IN A FEMALE WITH 2 ISOCHROMOSOMES - I(2P) AND I(2Q), American journal of human genetics, 59(5), 1996, pp. 1114-1118
MOLECULAR STUDIES OF CHROMOSOMAL MOSAICISM - RELATIVE FREQUENCY OF CHROMOSOME GAIN OR LOSS AND POSSIBLE ROLE OF CELL SELECTION
Authors: ROBINSON WP BINKERT F BERNASCONI F LORDASANCHEZ I WERDER EA SCHINZEL AA
Citation: Wp. Robinson et al., MOLECULAR STUDIES OF CHROMOSOMAL MOSAICISM - RELATIVE FREQUENCY OF CHROMOSOME GAIN OR LOSS AND POSSIBLE ROLE OF CELL SELECTION, American journal of human genetics, 56(2), 1995, pp. 444-451
RECOMBINATION IN THE PERICENTROMERIC REGION OF CHROMOSOME 15Q
Authors: ROBINSON WP CHRISTIAN SL LEDBETTER DH SCHINZEL AA
Citation: Wp. Robinson et al., RECOMBINATION IN THE PERICENTROMERIC REGION OF CHROMOSOME 15Q, Cytogenetics and cell genetics, 67(1), 1994, pp. 18-18
INTRACHROMOSOMAL TRIPLICATION OF 15Q11-Q13
Authors: SCHINZEL AA BRECEVIC L BERNASCONI F BINKERT F BERTHET F WUILLOUD A ROBINSON WP
Citation: Aa. Schinzel et al., INTRACHROMOSOMAL TRIPLICATION OF 15Q11-Q13, Journal of Medical Genetics, 31(10), 1994, pp. 798-803
UNDERSTANDING THE MECHANISM(S) OF MOSAIC TRISOMY-21 BY USING DNA POLYMORPHISM ANALYSIS
Authors: PANGALOS C AVRAMOPOULOS D BLOUIN JL RAOUL O DEBLOIS MC PRIEUR M SCHINZEL AA GIKA M ABAZIS D ANTONARAKIS SE
Citation: C. Pangalos et al., UNDERSTANDING THE MECHANISM(S) OF MOSAIC TRISOMY-21 BY USING DNA POLYMORPHISM ANALYSIS, American journal of human genetics, 54(3), 1994, pp. 473-481
A SOMATIC ORIGIN OF HOMOLOGOUS ROBERTSONIAN TRANSLOCATIONS AND ISOCHROMOSOMES
Authors: ROBINSON WP BERNASCONI F BASARAN S YUKSELAPAK M NERI G SERVILLE F BALICEK P HALUZA R FARAH LMS LULECI G SCHINZEL AA
Citation: Wp. Robinson et al., A SOMATIC ORIGIN OF HOMOLOGOUS ROBERTSONIAN TRANSLOCATIONS AND ISOCHROMOSOMES, American journal of human genetics, 54(2), 1994, pp. 290-302
MATERNAL UNIPARENTAL DISOMY-22 HAS NO IMPACT ON THE PHENOTYPE
Authors: SCHINZEL AA BASARAN S BERNASCONI F KARAMAN B YUKSELAPAK M ROBINSON WP
Citation: Aa. Schinzel et al., MATERNAL UNIPARENTAL DISOMY-22 HAS NO IMPACT ON THE PHENOTYPE, American journal of human genetics, 54(1), 1994, pp. 21-24
EXCLUSIVELY PATERNAL X-CHROMOSOMES IN A GIRL WITH SHORT STATURE
Authors: SCHINZEL AA ROBINSON WP BINKERT F TORRESANI T WERDER EA
Citation: Aa. Schinzel et al., EXCLUSIVELY PATERNAL X-CHROMOSOMES IN A GIRL WITH SHORT STATURE, Human genetics, 92(2), 1993, pp. 175-178
UNBALANCED TRANSLOCATION, T(18 21), DETECTED BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) IN A CHILD WITH 18Q-SYNDROME AND A RING CHROMOSOME-21
Authors: MCGINNISS MJ ROSENBERG C STETTEN G SCHINZEL AA BINKERT F PETERSEN MB KEARNS WG KAZAZIAN HH PEARSON PL ANTONARAKIS SE
Citation: Mj. Mcginniss et al., UNBALANCED TRANSLOCATION, T(18 21), DETECTED BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) IN A CHILD WITH 18Q-SYNDROME AND A RING CHROMOSOME-21, American journal of medical genetics, 46(6), 1993, pp. 647-651
UNIPARENTAL DISOMY EXPLAINS THE OCCURRENCE OF THE ANGELMAN OR PRADER-WILLI-SYNDROME IN PATIENTS WITH AN ADDITIONAL SMALL INV DUP(15) CHROMOSOME
Authors: ROBINSON WP WAGSTAFF J BERNASCONI F BACCICHETTI C ARTIFONI L FRANZONI E SUSLAK L SHIH LY AVIV H SCHINZEL AA
Citation: Wp. Robinson et al., UNIPARENTAL DISOMY EXPLAINS THE OCCURRENCE OF THE ANGELMAN OR PRADER-WILLI-SYNDROME IN PATIENTS WITH AN ADDITIONAL SMALL INV DUP(15) CHROMOSOME, Journal of Medical Genetics, 30(9), 1993, pp. 756-760
PARENTAL ORIGIN OF THE SUPERNUMERARY CHROMOSOME IN TRISOMY-18
Authors: XIE YG ROBINSON WP SPIEGEL R BINKERT F RUEFENACHT U SCHINZEL AA
Citation: Yg. Xie et al., PARENTAL ORIGIN OF THE SUPERNUMERARY CHROMOSOME IN TRISOMY-18, Clinical genetics, 44(2), 1993, pp. 57-61
ROBERTSONIAN TRANSLOCATIONS BETWEEN HOMOLOGOUS CHROMOSOMES ARE SOMATIC EVENTS
Authors: ROBINSON WP BERNASCONI F BLOUIN JL BASARAN S NERI G ZIZKA J ANTONARAKIS SE SCHINZEL AA
Citation: Wp. Robinson et al., ROBERTSONIAN TRANSLOCATIONS BETWEEN HOMOLOGOUS CHROMOSOMES ARE SOMATIC EVENTS, American journal of human genetics, 53(3), 1993, pp. 121-121
NONDISJUNCTION OF CHROMOSOME-15 - ORIGIN AND RECOMBINATION
Authors: ROBINSON WP BERNASCONI F MUTIRANGURA A LEDBETTER DH LANGLOIS S MALCOLM S MORRIS MA SCHINZEL AA
Citation: Wp. Robinson et al., NONDISJUNCTION OF CHROMOSOME-15 - ORIGIN AND RECOMBINATION, American journal of human genetics, 53(3), 1993, pp. 740-751
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