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Results: 1-22 |
Results: 22
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
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
PRADER-WILLI-LIKE PHENOTYPE AND THE PROXIMAL LONG ARM OF THE X-CHROMOSOME
Authors: TUMER Z TOMMERUP N BINKERT F BACK E BRONDUMNIELSEN K
Citation: Z. Tumer et al., PRADER-WILLI-LIKE PHENOTYPE AND THE PROXIMAL LONG ARM OF THE X-CHROMOSOME, American journal of medical genetics, 80(3), 1998, pp. 300-301
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
QUALITY GUIDELINES AND STANDARDS FOR GENETIC LABORATORIES CLINICS IN PRENATAL-DIAGNOSIS ON FETAL SAMPLES OBTAINED BY INVASIVE PROCEDURES - AN ATTEMPT TO ESTABLISH A COMMON EUROPEAN FRAMEWORK FOR QUALITY ASSESSMENT/
Authors: KROISEL PM FRYNS JP MATTHIJS G BRONDUMNIELSEN K VEJERSLEV L VONKOSKULL H GIRAUDON E SAURA R HELD K MULLERREIBLE CR METAXOTOU C GENUARDI M PIOMBO G SCHNEIDER F SMEETS D VANDENOUWELAND A PACHECO P CORREIA H BINKERT F GABARRON J GALLANO P KRISTOFFERSSON U ANVRET M HOWELL R STENHOUSE S
Citation: Pm. Kroisel et al., QUALITY GUIDELINES AND STANDARDS FOR GENETIC LABORATORIES CLINICS IN PRENATAL-DIAGNOSIS ON FETAL SAMPLES OBTAINED BY INVASIVE PROCEDURES - AN ATTEMPT TO ESTABLISH A COMMON EUROPEAN FRAMEWORK FOR QUALITY ASSESSMENT/, European journal of human genetics, 5(6), 1997, pp. 342-350
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
SERUM PARAMETERS AND NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENINGFOR FETAL CHROMOSOMAL-ABNORMALITIES
Authors: ZIMMERMANN R HUCHA A SAVOLDELLI G BINKERT F ACHERMANN J GRUDZINSKAS JG
Citation: R. Zimmermann et al., SERUM PARAMETERS AND NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENINGFOR FETAL CHROMOSOMAL-ABNORMALITIES, British journal of obstetrics and gynaecology, 103(10), 1996, pp. 1009-1014
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
TRISOMY-21 SCREENING WITH AFPPLUS IN EAST ERN SWITZERLAND
Authors: ZIMMERMANN R SCHMID W BINKERT F ACHERMANN J HUCH R HUCH A
Citation: R. Zimmermann et al., TRISOMY-21 SCREENING WITH AFPPLUS IN EAST ERN SWITZERLAND, Schweizerische medizinische Wochenschrift, 125(26), 1995, pp. 1286-1293
KALLMANN-SYNDROME IN A BOY WITH A T(1-10) TRANSLOCATION DETECTED BY REVERSE CHROMOSOME PAINTING
Authors: SCHINZEL A LORDASANCHEZ I BINKERT F CARTER NP BEBB CE FERGUSONSMITH MA EIHOLZER U ZACHMANN M ROBINSON WP
Citation: A. Schinzel et al., KALLMANN-SYNDROME IN A BOY WITH A T(1-10) TRANSLOCATION DETECTED BY REVERSE CHROMOSOME PAINTING, Journal of Medical Genetics, 32(12), 1995, pp. 957-961
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
BIPARENTAL INHERITANCE OF CHROMOSOME-21 POLYMORPHIC MARKERS INDICATESTHAT SOME ROBERTSONIAN TRANSLOCATIONS T(2121) OCCUR POSTZYGOTICALLY
Authors: BLOUIN JL BINKERT F ANTONARAKIS SE
Citation: Jl. Blouin et al., BIPARENTAL INHERITANCE OF CHROMOSOME-21 POLYMORPHIC MARKERS INDICATESTHAT SOME ROBERTSONIAN TRANSLOCATIONS T(2121) OCCUR POSTZYGOTICALLY, American journal of medical genetics, 49(3), 1994, pp. 363-368
MULTIPLE ORIGINS OF X-CHROMOSOME TETRASOMY
Authors: ROBINSON W BINKERT F SCHINZEL A BASARAN S MIKELSAAR R
Citation: W. Robinson et al., MULTIPLE ORIGINS OF X-CHROMOSOME TETRASOMY, Journal of Medical Genetics, 31(5), 1994, pp. 424-425
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
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
ULTRASOUND SCREENING FOR CHROMOSOMAL-ANOMALIES IN THE 1ST TRIMESTER OF PREGNANCY
Authors: SAVOLDELLI G BINKERT F ACHERMANN J SCHMID W
Citation: G. Savoldelli et al., ULTRASOUND SCREENING FOR CHROMOSOMAL-ANOMALIES IN THE 1ST TRIMESTER OF PREGNANCY, Prenatal diagnosis, 13(6), 1993, pp. 513-518
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
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
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