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Further delineation of the Nijmegen breakage syndrome.
Taalman RD, Hustinx TW, Weemaes CM, Seemanová E, Schmidt A, Passarge E, Scheres JM. Taalman RD, et al. Among authors: seemanova e. Am J Med Genet. 1989 Mar;32(3):425-31. doi: 10.1002/ajmg.1320320332. Am J Med Genet. 1989. PMID: 2786340
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A. Varon R, et al. Among authors: seemanova e. Cell. 1998 May 1;93(3):467-76. doi: 10.1016/s0092-8674(00)81174-5. Cell. 1998. PMID: 9590180
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W. Kohlhase J, et al. Among authors: seemanova e. Am J Hum Genet. 1999 Feb;64(2):435-45. doi: 10.1086/302238. Am J Hum Genet. 1999. PMID: 9973281 Free PMC article.
The Neu-Laxova syndrome.
Seemanová E, Rudolf R. Seemanová E, et al. Am J Med Genet. 1985 Jan;20(1):13-5. doi: 10.1002/ajmg.1320200103. Am J Med Genet. 1985. PMID: 3970065 No abstract available.
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G. Witsch-Baumgartner M, et al. Among authors: seemanova e. J Med Genet. 2008 Apr;45(4):200-9. doi: 10.1136/jmg.2007.053520. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965227
164 results