AAAAAA

   
Results: 1-20 |
Results: 20
ISOCHROMOSOMES 12P AND 9P - PARENTAL ORIGIN AND POSSIBLE MECHANISMS OF FORMATION
Authors: DUTLY F BALMER D BAUMER A BINKERT F SCHINZEL A
Citation: F. Dutly et al., ISOCHROMOSOMES 12P AND 9P - PARENTAL ORIGIN AND POSSIBLE MECHANISMS OF FORMATION, European journal of human genetics, 6(2), 1998, pp. 140-144
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
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
7 CASES OF WIEDEMANN-BECKWITH-SYNDROME, INCLUDING THE FIRST REPORTED CASE OF MOSAIC PATERNAL ISODISOMY ALONG THE WHOLE CHROMOSOME-11
Authors: DUTLY F BAUMER A KAYSERILI H YUKSELAPAK M ZEROVA T HEBISCH G SCHINZEL A
Citation: F. Dutly et al., 7 CASES OF WIEDEMANN-BECKWITH-SYNDROME, INCLUDING THE FIRST REPORTED CASE OF MOSAIC PATERNAL ISODISOMY ALONG THE WHOLE CHROMOSOME-11, American journal of medical genetics, 79(5), 1998, pp. 347-353
A 5-YEAR-OLD GIRL WITH INTERSTITIAL DELETION OF 3P14 - CLINICAL, PSYCHOLOGIC, CYTOGENETIC, AND MOLECULAR STUDIES
Authors: SCHINZEL A GUNDELFINGER R DUTLY F BAUMER A BINKERT F
Citation: A. Schinzel et al., A 5-YEAR-OLD GIRL WITH INTERSTITIAL DELETION OF 3P14 - CLINICAL, PSYCHOLOGIC, CYTOGENETIC, AND MOLECULAR STUDIES, American journal of medical genetics, 77(4), 1998, pp. 302-305
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
HIGH PREVALENCE OF PCR POSITIVITY FOR TROPHERYMA-WHIPPELII (TW) IN GASTRIC-JUICE AND DUODENAL MUCOSA OF PATIENTS WITHOUT WHIPPLES-DISEASE (WD)
Authors: EHRBAR HU DUTLY F KOELZ HR FRIED M BREITBACH T SPYCHER M ALTWEGG M BAUERFEIND P
Citation: Hu. Ehrbar et al., HIGH PREVALENCE OF PCR POSITIVITY FOR TROPHERYMA-WHIPPELII (TW) IN GASTRIC-JUICE AND DUODENAL MUCOSA OF PATIENTS WITHOUT WHIPPLES-DISEASE (WD), Gastroenterology, 114(4), 1998, pp. 1489-1489
22Q11.2 DELETIONS IN A SERIES OF PATIENTS WITH NONSELECTIVE CONGENITAL HEART-DEFECTS - INCIDENCE, TYPE OF DEFECTS AND PARENTAL ORIGIN
Authors: FOKSTUEN S ARBENZ U ARTAN S DUTLY F BAUERSFELD U BRECEVIC L FASNACHT M ROTHLISBERGER B SCHINZEL A
Citation: S. Fokstuen et al., 22Q11.2 DELETIONS IN A SERIES OF PATIENTS WITH NONSELECTIVE CONGENITAL HEART-DEFECTS - INCIDENCE, TYPE OF DEFECTS AND PARENTAL ORIGIN, Clinical genetics, 53(1), 1998, pp. 63-69
TRISOMY FIRST, TRANSLOCATION 2ND, UNIPARENTAL DISOMY AND PARTIAL TRISOMY 3RD - A NEW MECHANISM FOR COMPLEX CHROMOSOMAL ANEUPLOIDY
Authors: SCHINZEL A KOTZOT D BRECEVIC L ROBINSON WP DUTLY F DAUWERSE H BINKERT F BAUMER A AUSSERER B
Citation: A. Schinzel et al., TRISOMY FIRST, TRANSLOCATION 2ND, UNIPARENTAL DISOMY AND PARTIAL TRISOMY 3RD - A NEW MECHANISM FOR COMPLEX CHROMOSOMAL ANEUPLOIDY, European journal of human genetics, 5(5), 1997, pp. 308-314
INTERSTITIAL DELETION, DEL(4)(Q12Q21.1) DUE TO DE-NOVO UNBALANCED TRANSLOCATION
Authors: BINKERT F BRECEVIC L DUTLY F SCHINZEL A
Citation: F. Binkert et al., INTERSTITIAL DELETION, DEL(4)(Q12Q21.1) DUE TO DE-NOVO UNBALANCED TRANSLOCATION, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 198-198
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
INTERSTITIAL DELETION, DEL(4)(Q12Q21.1), OWING TO DE-NOVO UNBALANCED TRANSLOCATION IN A 2-YEAR OLD GIRL - FURTHER EVIDENCE THAT THE PIEBALDTRAIT MAPS TO PROXIMAL 4Q12
Authors: SCHINZEL A BRAEGGER CP BRECEVIC L DUTLY F BINKERT F
Citation: A. Schinzel et al., INTERSTITIAL DELETION, DEL(4)(Q12Q21.1), OWING TO DE-NOVO UNBALANCED TRANSLOCATION IN A 2-YEAR OLD GIRL - FURTHER EVIDENCE THAT THE PIEBALDTRAIT MAPS TO PROXIMAL 4Q12, Journal of Medical Genetics, 34(8), 1997, pp. 692-695
MULTIPLE CONGENITAL-ANOMALIES INCLUDING THE RIEGER EYE MALFORMATION IN A BOY WITH INTERSTITIAL DELETION OF (4)(Q25-]Q27) SECONDARY TO A BALANCED INSERTION IN HIS NORMAL FATHER - EVIDENCE FOR HAPLOTYPE INSUFFICIENCY CAUSING THE RIEGER MALFORMATION
Authors: SCHINZEL A BRECEVIC L DUTLY F BAUMER A BINKERT F LARGO RH
Citation: A. Schinzel et al., MULTIPLE CONGENITAL-ANOMALIES INCLUDING THE RIEGER EYE MALFORMATION IN A BOY WITH INTERSTITIAL DELETION OF (4)(Q25-]Q27) SECONDARY TO A BALANCED INSERTION IN HIS NORMAL FATHER - EVIDENCE FOR HAPLOTYPE INSUFFICIENCY CAUSING THE RIEGER MALFORMATION, Journal of Medical Genetics, 34(12), 1997, pp. 1012-1014
DEACTIVATION OF MACROPHAGES WITH INTERLEUKIN-4 IS THE KEY TO THE ISOLATION OF TROPHERYMA-WHIPPELII
Authors: SCHOEDON G GOLDENBERGER D FORRER R GUNZ A DUTLY F HOCHLI M ALTWEGG M SCHAFFNER A
Citation: G. Schoedon et al., DEACTIVATION OF MACROPHAGES WITH INTERLEUKIN-4 IS THE KEY TO THE ISOLATION OF TROPHERYMA-WHIPPELII, The Journal of infectious diseases, 176(3), 1997, pp. 672-677
UNEQUAL INTERCHROMOSOMAL REARRANGEMENTS MAY RESULT IN ELASTIN GENE DELETIONS CAUSING THE WILLIAMS-BEUREN SYNDROME
Authors: DUTLY F SCHINZEL A
Citation: F. Dutly et A. Schinzel, UNEQUAL INTERCHROMOSOMAL REARRANGEMENTS MAY RESULT IN ELASTIN GENE DELETIONS CAUSING THE WILLIAMS-BEUREN SYNDROME, Human molecular genetics, 5(12), 1996, pp. 1893-1898
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
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-CLONING AND DIFFERENTIAL EXPRESSION PATTERNS OF AVIAN GLUTAMATE-RECEPTOR MESSENGER-RNAS
Authors: OTTIGER HP GERFINMOSER A DELPRINCIPE F DUTLY F STREIT P
Citation: Hp. Ottiger et al., MOLECULAR-CLONING AND DIFFERENTIAL EXPRESSION PATTERNS OF AVIAN GLUTAMATE-RECEPTOR MESSENGER-RNAS, Journal of neurochemistry, 64(6), 1995, pp. 2413-2426
GENETIC-VARIATION IN POWDERY MILDEW OF BARLEY - DEVELOPMENT OF RAPD, SCAR, AND VNTR MARKERS
Authors: MCDERMOTT JM BRANDLE U DUTLY F HAEMMERLI UA KELLER S MULLER KE WOLFE MS
Citation: Jm. Mcdermott et al., GENETIC-VARIATION IN POWDERY MILDEW OF BARLEY - DEVELOPMENT OF RAPD, SCAR, AND VNTR MARKERS, Phytopathology, 84(11), 1994, pp. 1316-1321
Risultati: 1-20 |