Melegh B - 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. 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

Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion.

Bene J, Nádasi E, Kosztolányi G, Méhes K, Melegh B. Bene J, et al. Among authors: melegh b. Eur J Hum Genet. 2003 May;11(5):375-9. doi: 10.1038/sj.ejhg.5200975. Eur J Hum Genet. 2003. PMID: 12734542

3

[Phenotypic variants of A3243G mitochondrial DNA mutation in a Hungarian family].

Komlósi K, Bene J, Havasi V, Tihanyi M, Herczegfalvi A, Móser J, Melegh B. Komlósi K, et al. Among authors: melegh b. Orv Hetil. 2004 Aug 29;145(35):1805-9. Orv Hetil. 2004. PMID: 15493224 Hungarian.

4

Tel Hashomer camptodactyly syndrome: 12-year follow-up of a Hungarian patient and review.

Melegh B, Hollódy K, Aszmann M, Méhes K. Melegh B, et al. Am J Med Genet A. 2005 Jun 15;135(3):320-3. doi: 10.1002/ajmg.a.30736. Am J Med Genet A. 2005. PMID: 15887272 Review.

5

Maternally inherited deafness and unusual phenotypic manifestations associated with A3243G mitochondrial DNA mutation.

Komlósi K, Kellermayer R, Maász A, Havasi V, Hollódy K, Vincze O, Merkli H, Pál E, Melegh B. Komlósi K, et al. Among authors: melegh b. Pathol Oncol Res. 2005;11(2):82-6. doi: 10.1007/BF02893371. Epub 2005 Jul 1. Pathol Oncol Res. 2005. PMID: 15999151 Free article.

6

Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn's disease.

Bene J, Magyari L, Talián G, Komlósi K, Gasztonyi B, Tari B, Várkonyi A, Mózsik G, Melegh B. Bene J, et al. Among authors: melegh b. World J Gastroenterol. 2006 Sep 14;12(34):5550-3. doi: 10.3748/wjg.v12.i34.5550. World J Gastroenterol. 2006. PMID: 17006998 Free PMC article.

7

Histopathologic abnormalities of the lymphoreticular tissues in organic cation transporter 2 deficiency: evidence for impaired B cell maturation.

Komlósi K, Havasi V, Bene J, Süle N, Pajor L, Nicolai R, Benatti P, Calvani M, Melegh B. Komlósi K, et al. Among authors: melegh b. J Pediatr. 2007 Jan;150(1):109-111.e2. doi: 10.1016/j.jpeds.2006.09.042. J Pediatr. 2007. PMID: 17188629

8

Prevalence of SLC22A4 1672T and SLC22A5 -207C combination defined TC haplotype in Hungarian ulcerative colitis patients.

Magyari L, Bene J, Komlósi K, Talián G, Faragó B, Csöngei V, Járomi L, Sáfrány E, Sipeky C, Lakner L, Varga M, Gasztonyi B, Melegh B. Magyari L, et al. Among authors: melegh b. Pathol Oncol Res. 2007;13(1):53-6. doi: 10.1007/BF02893441. Epub 2007 Mar 27. Pathol Oncol Res. 2007. PMID: 17387389 Free article.

9

Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes.

Bene J, Komlósi K, Magyari L, Talián G, Horváth K, Gasztonyi B, Miheller P, Figler M, Mózsik G, Tulassay Z, Melegh B. Bene J, et al. Among authors: melegh b. Br J Nutr. 2007 Aug;98(2):345-50. doi: 10.1017/S0007114507705020. Epub 2007 Mar 29. Br J Nutr. 2007. PMID: 17391561

10

Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation.

Maász A, Komlósi K, Hadzsiev K, Szabó Z, Willems PJ, Gerlinger I, Kosztolányi G, Méhes K, Melegh B. Maász A, et al. Among authors: melegh b. Curr Med Chem. 2008;15(13):1257-62. doi: 10.2174/092986708784534910. Curr Med Chem. 2008. PMID: 18537605 Review.

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