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Results: 1-21 |
Results: 21
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
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
REARRANGEMENT OF THE SHORT ARMS OF CHROMOSOME-8 IN MYELODYSPLASTIC SYNDROMES (MDS) - A CYTOGENETICS AND FISH STUDY
Authors: BERNASCONI F MALCOVATI L BONI M CAVIGLIANO PM ROBERTI MG BARDI A CUNEO A CASTOLDI G BERNASCONI C
Citation: F. Bernasconi et al., REARRANGEMENT OF THE SHORT ARMS OF CHROMOSOME-8 IN MYELODYSPLASTIC SYNDROMES (MDS) - A CYTOGENETICS AND FISH STUDY, British Journal of Haematology, 102(1), 1998, pp. 339-339
ASSOCIATION OF PRENATALLY DIAGNOSED CONFINED PLACENTAL MOSAICISM (CPM) AND FETAL GONADAL MOSAICISM
Authors: STAVROPOULOS DJ BARRETT IJ LOMAX BL BICK D BERNASCONI F ROBINSON WP KALOUSEK DK
Citation: Dj. Stavropoulos et al., ASSOCIATION OF PRENATALLY DIAGNOSED CONFINED PLACENTAL MOSAICISM (CPM) AND FETAL GONADAL MOSAICISM, American journal of human genetics, 61(4), 1997, pp. 934-934
MEIOTIC ORIGIN OF TRISOMY IN CONFINED PLACENTAL MOSAICISM IS CORRELATED WITH PRESENCE OF FETAL UNIPARENTAL DISOMY, HIGH-LEVELS OF TRISOMY IN TROPHOBLAST, AND INCREASED RISK OF FETAL INTRAUTERINE GROWTH RESTRICTION
Authors: ROBINSON WP BARRETT IJ BERNARD L TELENIUS A BERNASCONI F WILSON RD BEST RG HOWARDPEEBLES PN LANGLOIS S KALOUSEK DK
Citation: Wp. Robinson et al., MEIOTIC ORIGIN OF TRISOMY IN CONFINED PLACENTAL MOSAICISM IS CORRELATED WITH PRESENCE OF FETAL UNIPARENTAL DISOMY, HIGH-LEVELS OF TRISOMY IN TROPHOBLAST, AND INCREASED RISK OF FETAL INTRAUTERINE GROWTH RESTRICTION, American journal of human genetics, 60(4), 1997, pp. 917-927
ISOCHROMOSOME 18P RESULTS FROM MATERNAL MEIOSIS-II NONDISJUNCTION
Authors: KOTZOT D BUNDSCHERER G BERNASCONI F BRECEVIC L LURIE IW BASARAN S BACCICCHETTI C HOLLER A CASTELLAN C BRAUNQUENTIN C PFEIFFER RA SCHINZEL A
Citation: D. Kotzot et al., ISOCHROMOSOME 18P RESULTS FROM MATERNAL MEIOSIS-II NONDISJUNCTION, European journal of human genetics, 4(3), 1996, pp. 168-174
DELINEATION OF 7Q11.2 DELETIONS ASSOCIATED WITH WILLIAMS-BEUREN SYNDROME AND MAPPING OF A REPETITIVE SEQUENCE TO WITHIN AND TO EITHER SIDE OF THE COMMON DELETION
Authors: ROBINSON WP WASLYNKA J BERNASCONI F WANG M CLARK S KOTZOT D SCHINZEL A
Citation: Wp. Robinson et al., DELINEATION OF 7Q11.2 DELETIONS ASSOCIATED WITH WILLIAMS-BEUREN SYNDROME AND MAPPING OF A REPETITIVE SEQUENCE TO WITHIN AND TO EITHER SIDE OF THE COMMON DELETION, Genomics, 34(1), 1996, pp. 17-23
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
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
PREDICTION OF MALE CANCER MORTALITY BY PLASMA-LEVELS OF INTERACTING VITAMINS - 17-YEAR FOLLOW-UP OF THE PROSPECTIVE BASEL STUDY
Authors: EICHHOLZER M STAHELIN HB GEY KF LUDIN E BERNASCONI F
Citation: M. Eichholzer et al., PREDICTION OF MALE CANCER MORTALITY BY PLASMA-LEVELS OF INTERACTING VITAMINS - 17-YEAR FOLLOW-UP OF THE PROSPECTIVE BASEL STUDY, International journal of cancer, 66(2), 1996, pp. 145-150
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
UNIPARENTAL DISOMY-7 IN SILVER-RUSSELL-SYNDROME AND PRIMORDIAL GROWTH-RETARDATION
Authors: KOTZOT D SCHMITT S BERNASCONI F ROBINSON WP LURIE IW ILYINA H MEHES K HAMEL BCJ OTTEN BJ HERGERSBERG M WERDER E SCHOENLE E SCHINZEL A
Citation: D. Kotzot et al., UNIPARENTAL DISOMY-7 IN SILVER-RUSSELL-SYNDROME AND PRIMORDIAL GROWTH-RETARDATION, Human molecular genetics, 4(4), 1995, pp. 583-587
PHENOTYPE OF THE WILLIAMS-BEUREN SYNDROME-ASSOCIATED WITH HEMIZYGOSITY AT THE ELASTIN LOCUS
Authors: KOTZOT D BERNASCONI F BRECEVIC L ROBINSON WP KISS P KOSZTOLANYI G LURIE IW SUPERTIFURGA A SCHINZEL A
Citation: D. Kotzot et al., PHENOTYPE OF THE WILLIAMS-BEUREN SYNDROME-ASSOCIATED WITH HEMIZYGOSITY AT THE ELASTIN LOCUS, European journal of pediatrics, 154(6), 1995, pp. 477-482
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
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
LEFT-VENTRICULAR SUBANNULAR PSEUDOANEURYS M COMPLICATING MITRAL-VALVEREPLACEMENT - ONE CASE-REPORT
Authors: GACON PH BRUNET AP CONTE P BERNASCONI F GLAUDON G
Citation: Ph. Gacon et al., LEFT-VENTRICULAR SUBANNULAR PSEUDOANEURYS M COMPLICATING MITRAL-VALVEREPLACEMENT - ONE CASE-REPORT, Archives des maladies du coeur et des vaisseaux, 87(11), 1994, pp. 1479-1482
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
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
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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