Kárteszi J - Search Results

1

Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50.

Kovács AL, Kárteszi J, Prohászka Z, Kalmár T, Késmárky G, Koltai K, Nagy Z, Sebők J, Vas T, Molnár K, Berki T, Böröcz K, Gyömörei C, Szalma J, Egyed M, Horváth S, Oláh P, Csuka D, Németh V, Gyulai R. Kovács AL, et al. Among authors: karteszi j. Front Immunol. 2022 Sep 1;13:919411. doi: 10.3389/fimmu.2022.919411. eCollection 2022. Front Immunol. 2022. PMID: 36119109 Free PMC article.

2

Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene.

Nagy O, Kárteszi J, Elmont B, Ujfalusi A. Nagy O, et al. Among authors: karteszi j. Front Pediatr. 2021 Aug 20;9:664548. doi: 10.3389/fped.2021.664548. eCollection 2021. Front Pediatr. 2021. PMID: 34490154 Free PMC article.

3

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. Among authors: karteszi j. 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

4

The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.

Nagy O, Kárteszi J, Hartwig M, Bertalan R, Jávorszky E, Erhardt É, Patócs A, Tornóczky T, Balogh I, Ujfalusi A. Nagy O, et al. Among authors: karteszi j. Mol Biol Rep. 2019 Oct;46(5):5595-5601. doi: 10.1007/s11033-019-04980-8. Epub 2019 Jul 23. Mol Biol Rep. 2019. PMID: 31338750

5

[Kennedy disease in a patient with progressive speech disorder].

Kárteszi J, Morava E, Czakó M, Gáti I, Czopf J, Kosztolányi G, Melegh B. Kárteszi J, et al. Orv Hetil. 2001 Sep 2;142(35):1915-7. Orv Hetil. 2001. PMID: 11601179 Hungarian.

6

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.

Morava E, Illés T, Weisenbach J, Kárteszi J, Kosztolányi G. Morava E, et al. Among authors: karteszi j. Am J Med Genet A. 2003 Jan 30;116A(3):272-7. doi: 10.1002/ajmg.a.10831. Am J Med Genet A. 2003. PMID: 12503106

7

Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia.

Morava E, Bartsch O, Czakó M, Frensel A, Kalscheuer V, Kárteszi J, Kosztolányi G. Morava E, et al. Among authors: karteszi j. Clin Dysmorphol. 2003 Apr;12(2):123-7. doi: 10.1097/01.mcd.0000059768.40218.9b. Clin Dysmorphol. 2003. PMID: 12868476

8

A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion.

Morava E, Bartsch O, Czako M, Frensel A, Kárteszi J, Kosztolányi GY. Morava E, et al. Among authors: karteszi j. Genet Couns. 2003;14(3):337-42. Genet Couns. 2003. PMID: 14577679

9

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

10

Screening for CDG type Ia in Joubert syndrome.

Morava E, Cser B, Kárteszi J, Huijben K, Szonyi L, Kosztolanyi G, Wevers R. Morava E, et al. Among authors: karteszi j. Med Sci Monit. 2004 Aug;10(8):CR469-72. Epub 2004 Jul 23. Med Sci Monit. 2004. PMID: 15277997

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