Bene J - Search Results

1

TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.

Maasz A, Hadzsiev K, Ripszam R, Zsigmond A, Maka E, Knezy K, Lesch B, Nemeth A, Bene J, Galik B, Gyenesei A, Melegh B. Maasz A, et al. Among authors: bene j. Eur J Med Genet. 2022 Apr;65(4):104471. doi: 10.1016/j.ejmg.2022.104471. Epub 2022 Feb 28. Eur J Med Genet. 2022. PMID: 35240325 Free article.

2

Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.

Tóth G, Morava E, Bene J, Selhorst JJ, Overmars H, Vreken P, Molnár J, Farkas V, Melegh B. Tóth G, et al. Among authors: bene j. J Inherit Metab Dis. 2001 Jun;24(3):421-2. doi: 10.1023/a:1010537527291. J Inherit Metab Dis. 2001. PMID: 11486914 No abstract available.

3

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. Eur J Hum Genet. 2003 May;11(5):375-9. doi: 10.1038/sj.ejhg.5200975. Eur J Hum Genet. 2003. PMID: 12734542

4

Mapping of possible laminin binding sites of Y. pestis plasminogen activator (Pla) via phage display.

Benedek O, Bene J, Melegh B, Emödy L. Benedek O, et al. Among authors: bene j. Adv Exp Med Biol. 2003;529:101-4. doi: 10.1007/0-306-48416-1_18. Adv Exp Med Biol. 2003. PMID: 12756736

5

[Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome].

Kárteszi J, Hollódy K, Bene J, Morava E, Hadzsiev K, Czakó M, Melegh B, Kosztolányi G. Kárteszi J, et al. Among authors: bene j. Orv Hetil. 2004 Apr 25;145(17):909-11. Orv Hetil. 2004. PMID: 15170968 Hungarian.

6

Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients.

Kárteszi J, Hollódy K, Bene J, Morava E, Hadzsiev K, Czakó M, Melegh B, Tészás A, Kosztolányi G. Kárteszi J, et al. Among authors: bene j. Am J Med Genet A. 2004 Nov 15;131(1):106. doi: 10.1002/ajmg.a.30218. Am J Med Genet A. 2004. PMID: 15389714 No abstract available.

7

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: bene j. 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

8

[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: bene j. Orv Hetil. 2004 Aug 29;145(35):1805-9. Orv Hetil. 2004. PMID: 15493224 Hungarian.

9

Glycoprotein IIIA gene (PlA) polymorphism and aspirin resistance: is there any correlation?

Papp E, Havasi V, Bene J, Komlosi K, Czopf L, Magyar E, Feher C, Feher G, Horvath B, Marton Z, Alexy T, Habon T, Szabo L, Toth K, Melegh B. Papp E, et al. Among authors: bene j. Ann Pharmacother. 2005 Jun;39(6):1013-8. doi: 10.1345/aph.1E227. Epub 2005 Apr 19. Ann Pharmacother. 2005. PMID: 15840736

10

Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet.

Bene J, Komlósi K, Gasztonyi B, Juhász M, Tulassay Z, Melegh B. Bene J, et al. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. doi: 10.3748/wjg.v11.i42.6671. World J Gastroenterol. 2005. PMID: 16425363 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

304 results

Search Page

Filters