Oláh E - Search Results

1

Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families.

Melegh B, Bene J, Mogyorósy G, Havasi V, Komlósi K, Pajor L, Oláh E, Kispál G, Sumegi B, Méhes K. Melegh B, et al. Among authors: olah e. Am J Med Genet A. 2004 Dec 1;131(2):121-6. doi: 10.1002/ajmg.a.30207. Am J Med Genet A. 2004. PMID: 15487009

2

[Mitochondrial DNA deletion in hereditary cardio-encephalo-myopathy].

Melegh B, Seress L, Sümegi B, Trombitás K, Bock I, Kispál G, Oláh E, Méhes K. Melegh B, et al. Among authors: olah e. Orv Hetil. 1995 Jun 11;136(24):1275-9. Orv Hetil. 1995. PMID: 7596586 Hungarian.

3

Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.

Bessenyei B, Tihanyi M, Hartwig M, Szakszon K, Oláh É. Bessenyei B, et al. Among authors: olah e. Am J Med Genet A. 2014 Dec;164A(12):3176-9. doi: 10.1002/ajmg.a.36774. Epub 2014 Sep 23. Am J Med Genet A. 2014. PMID: 25251565

4

[In utero thrombosis of neonates: inherited thrombophilia?].

Nagy A, Mogyorósy G, Kiss C, Pataki I, Amir Houshang S, Oláh E. Nagy A, et al. Among authors: olah e. Orv Hetil. 2009 Apr 19;150(16):743-6. doi: 10.1556/OH.2009.28574. Orv Hetil. 2009. PMID: 19362927 Hungarian.

5

[Study of pathogenetic role of Epstein-Barr virus in Hungarian patients with B-cell non-Hodgkin lymphomas].

Germán P, Beck Z, Semsei I, Kiss S, Görög B, Balogh E, Tóth F, Nemes Z, Pajor L, Oláh E. Germán P, et al. Among authors: olah e. Orv Hetil. 2002 Nov 24;143(47):2619-24. Orv Hetil. 2002. PMID: 12532647 Review. Hungarian.

6

Ten-year experiences on initial genetic examination in childhood acute lymphoblastic leukaemia in Hungary (1993-2002). Technical approaches and clinical implementation.

Olah E, Balogh E, Pajor L, Jakab Z; Hungarian Pediatric Oncology Network. Olah E, et al. Pathol Oncol Res. 2011 Mar;17(1):81-90. doi: 10.1007/s12253-010-9286-2. Epub 2010 Jun 24. Pathol Oncol Res. 2011. PMID: 20571941 Free article.

7

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

8

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

9

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

10

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

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