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Results: 1-13 |
Results: 13
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
ESCHER-HIRT-SYNDROME
Authors: KOTZOT D SCHLEGEL C WICHMANN W SCHINZEL A
Citation: D. Kotzot et al., ESCHER-HIRT-SYNDROME, Clinical dysmorphology, 6(4), 1997, pp. 315-321
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
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
VARIANT OF COFFIN-SIRIS SYNDROME OR PREVIOUSLY UNDESCRIBED SYNDROME
Authors: BRAUNQUENTIN C KAPFERER L KOTZOT D
Citation: C. Braunquentin et al., VARIANT OF COFFIN-SIRIS SYNDROME OR PREVIOUSLY UNDESCRIBED SYNDROME, American journal of medical genetics, 64(4), 1996, pp. 568-572
UNIPARENTAL DISOMY AND GENOMIC IMPRINTING - RELEVANCE TO RARE DYSMORPHIC SYNDROMES
Authors: KOTZOT D BRAUNQUENTIN C
Citation: D. Kotzot et C. Braunquentin, UNIPARENTAL DISOMY AND GENOMIC IMPRINTING - RELEVANCE TO RARE DYSMORPHIC SYNDROMES, Monatsschrift fur Kinderheilkunde, 144(8), 1996, pp. 786-792
MURCS ASSOCIATION - CASE-REPORT AND REVIEW
Authors: BRAUNQUENTIN C BILLES C BOWING B KOTZOT D
Citation: C. Braunquentin et al., MURCS ASSOCIATION - CASE-REPORT AND REVIEW, Journal of Medical Genetics, 33(7), 1996, pp. 618-620
DE-NOVO DIRECT DUPLICATION 3(P25-]PTER) - A PREVIOUSLY UNDESCRIBED CHROMOSOMAL ABERRATION
Authors: KOTZOT D KRUGER C BRAUNQUENTIN C
Citation: D. Kotzot et al., DE-NOVO DIRECT DUPLICATION 3(P25-]PTER) - A PREVIOUSLY UNDESCRIBED CHROMOSOMAL ABERRATION, Clinical genetics, 50(2), 1996, pp. 96-98
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
OCULOCUTANEOUS ALBINISM, IMMUNODEFICIENCY, HEMATOLOGICAL DISORDERS, AND MINOR ANOMALIES - A NEW AUTOSOMAL RECESSIVE SYNDROME
Authors: KOTZOT D RICHTER K GIERTHFIEBIG K
Citation: D. Kotzot et al., OCULOCUTANEOUS ALBINISM, IMMUNODEFICIENCY, HEMATOLOGICAL DISORDERS, AND MINOR ANOMALIES - A NEW AUTOSOMAL RECESSIVE SYNDROME, American journal of medical genetics, 50(3), 1994, pp. 224-227
DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH AT YPICAL INVOLVEMENT OF THE BREAST
Authors: KOTZOT D HUPPERTZ HI BARTELS H
Citation: D. Kotzot et al., DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH AT YPICAL INVOLVEMENT OF THE BREAST, Monatsschrift fur Kinderheilkunde, 142(3), 1994, pp. 189-191
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