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Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.
Kotzot D. Kotzot D. Am J Med Genet. 1999 Jan 29;82(3):265-74. Am J Med Genet. 1999. PMID: 10215553 Review.
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.
Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Méhes K, Hamel BC, Otten BJ, Hergersberg M, et al. Kotzot D, et al. Hum Mol Genet. 1995 Apr;4(4):583-7. doi: 10.1093/hmg/4.4.583. Hum Mol Genet. 1995. PMID: 7633407
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
Kotzot D, Richter K, Gierth-Fiebig K. Kotzot D, et al. Am J Med Genet. 1994 Apr 15;50(3):224-7. doi: 10.1002/ajmg.1320500303. Am J Med Genet. 1994. PMID: 8042664
MURCS association: case report and review.
Braun-Quentin C, Billes C, Böwing B, Kotzot D. Braun-Quentin C, et al. Among authors: kotzot d. J Med Genet. 1996 Jul;33(7):618-20. doi: 10.1136/jmg.33.7.618. J Med Genet. 1996. PMID: 8818954 Free PMC article.
Isochromosome 18p results from maternal meiosis II nondisjunction.
Kotzot D, Bundscherer G, Bernasconi F, Brecevic L, Lurie IW, Basaran S, Baccicchetti C, Höller A, Castellan C, Braun-Quentin C, Pfeiffer RA, Schinzel A. Kotzot D, et al. Eur J Hum Genet. 1996;4(3):168-74. doi: 10.1159/000472191. Eur J Hum Genet. 1996. PMID: 8840117
Variant of Coffin-Siris syndrome or previously undescribed syndrome?
Braun-Quentin C, Kapferer L, Kotzot D. Braun-Quentin C, et al. Among authors: kotzot d. Am J Med Genet. 1996 Sep 6;64(4):568-72. doi: 10.1002/(SICI)1096-8628(19960906)64:4<568::AID-AJMG8>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8870924
De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration.
Kotzot D, Krüger C, Braun-Quentin C. Kotzot D, et al. Clin Genet. 1996 Aug;50(2):96-8. doi: 10.1111/j.1399-0004.1996.tb02356.x. Clin Genet. 1996. PMID: 8937769
Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.
Schinzel A, Kotzot D, Brecevic L, Robinson WP, Dutly F, Dauwerse H, Binkert F, Baumer A, Ausserer B. Schinzel A, et al. Among authors: kotzot d. Eur J Hum Genet. 1997 Sep-Oct;5(5):308-14. Eur J Hum Genet. 1997. PMID: 9412788
"Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3).
Röthlisberger B, Kotzot D, Gnehm HE, Schinzel A. Röthlisberger B, et al. Among authors: kotzot d. Am J Med Genet. 1999 Aug 6;85(4):389-94. Am J Med Genet. 1999. PMID: 10398266
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.
Wang MS, Schinzel A, Kotzot D, Balmer D, Casey R, Chodirker BN, Gyftodimou J, Petersen MB, Lopez-Rangel E, Robinson WP. Wang MS, et al. Among authors: kotzot d. Am J Med Genet. 1999 Sep 3;86(1):34-43. Am J Med Genet. 1999. PMID: 10440826
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