Oláh É - Search Results

1

Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.

Szabó GP, Knegt AC, Ujfalusi A, Balogh E, Szabó T, Oláh É. Szabó GP, et al. Among authors: olah e. Am J Med Genet A. 2012 Apr;158A(4):869-76. doi: 10.1002/ajmg.a.35236. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407767

2

Jumping translocation of chromosome 1q associated with good clinical outcome in a case of Burkitt leukemia.

Bessenyei B, Ujfalusi A, Balogh E, Olah E, Szegedi I, Kiss C. Bessenyei B, et al. Among authors: olah e. Cancer Genet. 2011 Apr;204(4):207-10. doi: 10.1016/j.cancergencyto.2010.10.005. Cancer Genet. 2011. PMID: 21536239

3

[Detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation].

Szabó GP, Bessenyei B, Balogh E, Ujfalusi A, Szakszon K, Oláh E. Szabó GP, et al. Among authors: olah e. Orv Hetil. 2010 Jul 4;151(27):1091-8. doi: 10.1556/OH.2010.28911. Orv Hetil. 2010. PMID: 20558358 Hungarian.

4

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging.

Szakszon K, Berényi E, Jakab A, Bessenyei B, Balogh E, Köbling T, Szilvássy J, Knegt AC, Oláh E. Szakszon K, et al. Among authors: olah e. Am J Med Genet A. 2011 Mar;155A(3):634-7. doi: 10.1002/ajmg.a.33837. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21344633

5

Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome.

Szakszon K, Felszeghy E, Csízy I, Józsa T, Káposzta R, Balogh E, Oláh E, Balogh I, Berényi E, Knegt AC, Ilyés I. Szakszon K, et al. Among authors: olah e. Eur J Med Genet. 2012 Feb;55(2):109-11. doi: 10.1016/j.ejmg.2011.11.002. Epub 2011 Nov 17. Eur J Med Genet. 2012. PMID: 22138217

6

Meiotic segregation study of a novel t(3;6)(q21;q23) in an infertile man using fluorescence in situ hybridization (FISH).

Mokánszki A, Ujfalusi A, Balogh E, Sümegi A, Antal-Szalmás P, Bazsáné ZK, Molnár Z, Varga A, Sápy T, Jakab A, Oláh É. Mokánszki A, et al. Among authors: olah e. Syst Biol Reprod Med. 2012 Jun;58(3):160-4. doi: 10.3109/19396368.2012.670868. Epub 2012 Apr 30. Syst Biol Reprod Med. 2012. PMID: 22540876

7

Correlation study between sperm concentration, hyaluronic acid-binding capacity and sperm aneuploidy in Hungarian patients.

Mokánszki A, Molnár Z, Ujfalusi A, Balogh E, Bazsáné ZK, Varga A, Jakab A, Oláh É. Mokánszki A, et al. Among authors: olah e. Reprod Biomed Online. 2012 Dec;25(6):620-6. doi: 10.1016/j.rbmo.2012.08.003. Epub 2012 Sep 10. Reprod Biomed Online. 2012. PMID: 23063816

8

[Citogenetic and molecular genetic studies in infertility in eastern Hungary].

Mokánszki A, Ujfalusi A, Balogh E, Molnár Z, Sápy T, Jakab A, Varga A, Oláh E. Mokánszki A, et al. Among authors: olah e. Orv Hetil. 2013 Jan 13;154(2):52-61. doi: 10.1556/OH.2013.29510. Orv Hetil. 2013. PMID: 23291203 Hungarian.

9

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

Szakszon K, Salpietro C, Kakar N, Knegt AC, Oláh É, Dallapiccola B, Borck G. Szakszon K, et al. Among authors: olah e. Am J Med Genet A. 2013 Apr;161A(4):884-8. doi: 10.1002/ajmg.a.35848. Epub 2013 Feb 22. Am J Med Genet A. 2013. PMID: 23436491

10

Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.

Bessenyei B, Nagy A, Balogh E, Novák L, Bognár L, Knegt AC, Oláh E. Bessenyei B, et al. Among authors: olah e. Am J Med Genet A. 2013 Oct;161A(10):2641-4. doi: 10.1002/ajmg.a.36130. Epub 2013 Aug 15. Am J Med Genet A. 2013. PMID: 23949953

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