Morava E - Search Results

1

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: morava e. 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.

2

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

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. Among authors: morava e. 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. 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

5

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

6

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

7

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. 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

8

Trinucleotide repeat polymorphism at five disease loci in mixed Hungarian population.

Gyürüs P, Molnár J, Melegh B, Tóth G, Morava E, Kosztolányi G, Méhes K. Gyürüs P, et al. Among authors: morava e. Am J Med Genet. 1999 Nov 26;87(3):245-50. doi: 10.1002/(sici)1096-8628(19991126)87:3<245::aid-ajmg9>3.3.co;2-5. Am J Med Genet. 1999. PMID: 10564878

9

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.

10

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.

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