Kotzot D - Search Results

1

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.

Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karaüzüm SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A. Kotzot D, et al. J Med Genet. 2000 Apr;37(4):281-6. doi: 10.1136/jmg.37.4.281. J Med Genet. 2000. PMID: 10745046 Free PMC article.

2

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

3

Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46, XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome.

Kotzot D, Schinzel A. Kotzot D, et al. Eur J Hum Genet. 2000 Sep;8(9):709-12. doi: 10.1038/sj.ejhg.5200520. Eur J Hum Genet. 2000. PMID: 10980577

4

Marden-Walker syndrome in an adult.

Kotzot D, Schinzel A. Kotzot D, et al. Clin Dysmorphol. 1995 Jul;4(3):260-5. Clin Dysmorphol. 1995. PMID: 7551165

5

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

6

"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

7

Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: a new syndrome?

Achermann S, Largo R, Kotzot D, Riegel M, Schinzel A. Achermann S, et al. Among authors: kotzot d. Am J Med Genet. 1999 Oct 29;86(5):486-91. doi: 10.1002/(sici)1096-8628(19991029)86:5<486::aid-ajmg16>3.0.co;2-6. Am J Med Genet. 1999. PMID: 10508993

8

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.

Röthlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, Schinzel A. Röthlisberger B, et al. Among authors: kotzot d. Eur J Hum Genet. 1999 Dec;7(8):873-83. doi: 10.1038/sj.ejhg.5200389. Eur J Hum Genet. 1999. PMID: 10602362

9

Maternal uniparental disomy 7--review and further delineation of the phenotype.

Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Kotzot D, et al. Eur J Pediatr. 2000 Apr;159(4):247-56. doi: 10.1007/s004310050064. Eur J Pediatr. 2000. PMID: 10789928

10

A new molecular approach to investigate origin and formation of structural chromosome aberrations.

Röthlisberger B, Schinzel A, Kotzot D. Röthlisberger B, et al. Among authors: kotzot d. Chromosome Res. 2000;8(5):451-3. doi: 10.1023/a:1009239009599. Chromosome Res. 2000. PMID: 10997786 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

120 results

Search Page

Filters