Czako M - Search Results

1

Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin.

Gardeitchik T, de Leeuw N, Nijtmans L, Jira P, Kozicz T, Czako M, van de Burgt I, Morava E. Gardeitchik T, et al. Among authors: czako m. Am J Med Genet A. 2012 Feb;158A(2):469-72. doi: 10.1002/ajmg.a.34410. Epub 2011 Dec 15. Am J Med Genet A. 2012. PMID: 22173889 No abstract available.

2

De novo partial duplication of long arm of chromosome 13: dup(13)(q12-->q14).

Hermann R, Soltész G, Morava E, Kosztolányi G, Czakó M. Hermann R, et al. Among authors: czako m. Am J Med Genet. 2000 Jun 5;92(4):296-7. Am J Med Genet. 2000. PMID: 10842301 No abstract available.

3

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

4

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

5

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

6

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.

7

Isodicentric Y chromosome in an Ullrich-Turner patient without virilization.

Morava E, Hermann R, Czakó M, Soltész G, Kosztolányi G. Morava E, et al. Among authors: czako m. Am J Med Genet. 2000 Mar 13;91(2):99-101. doi: 10.1002/(sici)1096-8628(20000313)91:2<99::aid-ajmg3>3.0.co;2-c. Am J Med Genet. 2000. PMID: 10748405

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

Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis.

Morava E, Czakó M, Aszmann M, Illés T, Kosztolányi GY. Morava E, et al. Among authors: czako m. Genet Couns. 2002;13(4):455-7. Genet Couns. 2002. PMID: 12558117

10

[Maternal toxoplasma infection and mosaic trisomy 8 syndrome].

Morava E, Varga L, Czakó M, Decsi T. Morava E, et al. Among authors: czako m. Orv Hetil. 2002 Mar 17;143(11):563-5. Orv Hetil. 2002. PMID: 12583326 Hungarian.

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