Hadzsiev K - Search Results

1

Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome.

Buki G, Hadzsiev K, Bene J. Buki G, et al. Among authors: hadzsiev k. Curr Mol Med. 2023;23(5):433-441. doi: 10.2174/1566524022666220428111943. Curr Mol Med. 2023. PMID: 37038253

2

[Complex management of children affected with cleft lip and palate associated with genetic syndromes].

Vástyán A, Maros TB, Sándor-Bajusz KA, Vajda K, Hadzsiev K. Vástyán A, et al. Among authors: hadzsiev k. Orv Hetil. 2022 May 22;163(21):826-831. doi: 10.1556/650.2022.32500. Print 2022 May 22. Orv Hetil. 2022. PMID: 35598212 Hungarian.

3

Rehabilitation needs of a genetic counseling unit.

Aszmann M, Hadzsiev K, Kosztolányi G. Aszmann M, et al. Among authors: hadzsiev k. Genet Couns. 2005;16(4):417-9. Genet Couns. 2005. PMID: 16440886 No abstract available.

4

Increased prevalence of functional minor allele variants of drug metabolizing CYP2B6 and CYP2D6 genes in Roma population samples.

Weber A, Szalai R, Sipeky C, Magyari L, Melegh M, Jaromi L, Matyas P, Duga B, Kovesdi E, Hadzsiev K, Melegh B. Weber A, et al. Among authors: hadzsiev k. Pharmacol Rep. 2015 Jun;67(3):460-4. doi: 10.1016/j.pharep.2014.11.006. Epub 2014 Nov 27. Pharmacol Rep. 2015. PMID: 25933954

5

[Rapid diagnosis of fetal chromosomal abnormalities by fluorescence in situ hybridization].

Hadzsiev K, Czakó M, Veszprémi B, Kosztolányi G. Hadzsiev K, et al. Orv Hetil. 2007 Jul 29;148(30):1401-4. doi: 10.1556/OH.2007.28068. Orv Hetil. 2007. PMID: 17631477 Hungarian.

6

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.

Dangouloff T, Vrščaj E, Servais L, Osredkar D; SMA NBS World Study Group. Dangouloff T, et al. Neuromuscul Disord. 2021 Jun;31(6):574-582. doi: 10.1016/j.nmd.2021.03.007. Epub 2021 Apr 7. Neuromuscul Disord. 2021. PMID: 33985857

7

Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

Morava E, Wosik H, Kárteszi J, Guillard M, Adamowicz M, Sykut-Cegielska J, Hadzsiev K, Wevers RA, Lefeber DJ. Morava E, et al. Among authors: hadzsiev k. J Inherit Metab Dis. 2008 Jun;31(3):450-6. doi: 10.1007/s10545-008-0822-0. Epub 2008 May 20. J Inherit Metab Dis. 2008. PMID: 18500572

8

[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: hadzsiev k. Orv Hetil. 2004 Apr 25;145(17):909-11. Orv Hetil. 2004. PMID: 15170968 Hungarian.

9

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: hadzsiev k. 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.

10

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

Hadzsiev K, Polgar N, Bene J, Komlosi K, Karteszi J, Hollody K, Kosztolanyi G, Renieri A, Melegh B. Hadzsiev K, et al. J Hum Genet. 2011 Mar;56(3):183-7. doi: 10.1038/jhg.2010.156. Epub 2010 Dec 16. J Hum Genet. 2011. PMID: 21160487

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