Morava E - 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: morava e. 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

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

Morava E, Hermann R, Czakó M, Soltész G, Kosztolányi G. Morava E, et al. 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

3

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: morava e. Am J Med Genet. 2000 Jun 5;92(4):296-7. Am J Med Genet. 2000. PMID: 10842301 No abstract available.

4

[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. Orv Hetil. 2000 Aug 20;141(34):1873-5. Orv Hetil. 2000. PMID: 11006712 Hungarian.

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. 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: morava e. 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

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. Among authors: morava e. Am J Med Genet. 2002 Mar 15;108(3):226-8. doi: 10.1002/ajmg.10243. Am J Med Genet. 2002. PMID: 11891691

8

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. Genet Couns. 2002;13(4):455-7. Genet Couns. 2002. PMID: 12558117

9

[Maternal toxoplasma infection and mosaic trisomy 8 syndrome].

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

10

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. Clin Dysmorphol. 2003 Apr;12(2):123-7. doi: 10.1097/01.mcd.0000059768.40218.9b. Clin Dysmorphol. 2003. PMID: 12868476

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