Czakó M - Search Results

1

Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.

Szabó A, Czakó M, Hadzsiev K, Duga B, Bánfai Z, Komlósi K, Melegh B. Szabó A, et al. Among authors: czako m. Am J Med Genet A. 2018 Feb;176(2):443-449. doi: 10.1002/ajmg.a.38566. Epub 2017 Dec 11. Am J Med Genet A. 2018. PMID: 29226546

2

[22q11.2 chromosome deletion and velo-cardio-facial syndrome in a patient with tetralogy of Fallot].

Morava E, Masszi G, Czakó M, Tóth G, Melegh B, Kosztolányi G. Morava E, et al. Among authors: czako m. Orv Hetil. 2000 Aug 20;141(34):1873-5. Orv Hetil. 2000. PMID: 11006712 Hungarian.

3

Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children.

Morava E, Czakó M, Melegh B, Kosztolányi G. Morava E, et al. Among authors: czako m. Clin Genet. 2000 Nov;58(5):403-5. doi: 10.1034/j.1399-0004.2000.580512.x. Clin Genet. 2000. PMID: 11140842

4

Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies.

Riegel M, Morava E, Czakó M, Kosztolányi G, Schinzel A. Riegel M, et al. Among authors: czako m. Am J Med Genet. 2001 Aug 15;102(3):227-30. doi: 10.1002/ajmg.1455. Am J Med Genet. 2001. PMID: 11484198 Review.

5

Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1).

Czakó M, Riegel M, Morava E, Schinzel A, Kosztolányi G. Czakó M, et al. Am J Med Genet. 2002 Mar 15;108(3):226-8. doi: 10.1002/ajmg.10243. Am J Med Genet. 2002. PMID: 11891691

6

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: czako m. Genet Couns. 2003;14(3):337-42. Genet Couns. 2003. PMID: 14577679

7

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

8

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: czako m. 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.

9

Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q.

Czakó M, Riegel M, Morava E, Bajnóczky K, Kosztolányi G. Czakó M, et al. Am J Med Genet A. 2004 Dec 15;131(3):310-2. doi: 10.1002/ajmg.a.30249. Am J Med Genet A. 2004. PMID: 15540175

10

Alpha-thalassemia/mental retardation syndrome in a 45,X male.

Kellermayer R, Czakó M, Kiss-László Z, Gyuris P, Kozári A, Melegh B, Kosztolányi G. Kellermayer R, et al. Among authors: czako m. Am J Med Genet A. 2005 Feb 1;132A(4):431-3. doi: 10.1002/ajmg.a.30499. Am J Med Genet A. 2005. PMID: 15633163 Review.

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