Tyshchenko N - Search Results

1

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.

du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF. du Souich C, et al. Among authors: tyshchenko n. Am J Med Genet A. 2009 Nov;149A(11):2469-78. doi: 10.1002/ajmg.a.33071. Am J Med Genet A. 2009. PMID: 19842190

2

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.

Tyshchenko N, Neuhann TM, Gerlach E, Hahn G, Heisch K, Rump A, Schrock E, Tinschert S, Hackmann K. Tyshchenko N, et al. Am J Med Genet A. 2011 Sep;155A(9):2060-5. doi: 10.1002/ajmg.a.34159. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834043

3

1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.

Tyshchenko N, Hackmann K, Gerlach EM, Neuhann T, Schrock E, Tinschert S. Tyshchenko N, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):128-30. doi: 10.1016/j.ejmg.2009.03.002. Epub 2009 Mar 17. Eur J Med Genet. 2009. PMID: 19298871

4

Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: olfactory bulb aplasia and anosmia.

Gerber JC, Neuhann TM, Tyshchenko N, Smitka M, Hackmann K. Gerber JC, et al. Among authors: tyshchenko n. Am J Med Genet A. 2011 Aug;155A(8):1981-6. doi: 10.1002/ajmg.a.34079. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744487

5

Chromosomal map of human brain malformations.

Tyshchenko N, Lurie I, Schinzel A. Tyshchenko N, et al. Hum Genet. 2008 Aug;124(1):73-80. doi: 10.1007/s00439-008-0528-2. Epub 2008 Jun 18. Hum Genet. 2008. PMID: 18563447 Free article.

6

Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations.

Tyshchenko NA, Riegel M, Evseenkova EG, Zerova TE, Gorovenko NG, Schinzel A. Tyshchenko NA, et al. Eur J Med Genet. 2007 Mar-Apr;50(2):128-32. doi: 10.1016/j.ejmg.2006.10.008. Epub 2006 Nov 10. Eur J Med Genet. 2007. PMID: 17174617

7

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ. Bisschoff IJ, et al. Among authors: tyshchenko n. Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17. Hum Mutat. 2013. PMID: 23033313 Free PMC article.

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