Kellermayer R - Search Results

1

A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.

Kellermayer R, Siitonen HA, Hadzsiev K, Kestilä M, Kosztolányi G. Kellermayer R, et al. Arch Dermatol. 2005 May;141(5):617-20. doi: 10.1001/archderm.141.5.617. Arch Dermatol. 2005. PMID: 15897384

2

Vertebral defects in a patient with Feingold syndrome.

Kellermayer R, Weisenbach J, Gyuris P, Aszmann M, Kosztolányi G. Kellermayer R, et al. Clin Dysmorphol. 2005 Oct;14(4):213-214. Clin Dysmorphol. 2005. PMID: 16155427 No abstract available.

3

Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.

Kellermayer R, Keller M, Ratajczak P, Richardson E, Harangi F, Mérei E, Melegh B, Kosztolányi G, Richard G. Kellermayer R, et al. Eur J Dermatol. 2005 Mar-Apr;15(2):75-9. Eur J Dermatol. 2005. PMID: 15757815

4

A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.

Kellermayer R, Hsu AP, Stankovics J, Balogh P, Hadzsiev K, Vojcek Á, Maródi L, Kajtár P, Kosztolányi G, Puck JM. Kellermayer R, et al. J Hum Genet. 2006;51(5):495-497. doi: 10.1007/s10038-006-0386-5. Epub 2006 Apr 7. J Hum Genet. 2006. PMID: 16601912

5

Presenile cataract: consider cholestanol.

Tészás A, Pfund Z, Morava E, Kosztolányi G, Sistermans E, Wevers RA, Kellermayer R. Tészás A, et al. Among authors: kellermayer r. Arch Ophthalmol. 2006 Oct;124(10):1490-2. doi: 10.1001/archopht.124.10.1490. Arch Ophthalmol. 2006. PMID: 17030721 No abstract available.

6

[The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease in Hungary].

Szigeti R, Chao SC, Várszegi D, Czakó M, Kosztolányi G, Kellermayer R. Szigeti R, et al. Among authors: kellermayer r. Orv Hetil. 2005 Sep 11;146(37):1933-5. Orv Hetil. 2005. PMID: 16255378 Hungarian.

7

High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation.

Kovács N, Sárkány I, Mohay G, Adamovich K, Ertl T, Kosztolányi G, Kellermayer R. Kovács N, et al. Among authors: kellermayer r. Am J Med Genet A. 2006 Dec 15;140(24):2816-8. doi: 10.1002/ajmg.a.31461. Am J Med Genet A. 2006. PMID: 17058284 No abstract available.

8

A cryptic unbalanced translocation resulting in del 13q and dup 15q.

Tészás A, Møller RS, Kellermayer R, Czakó M, Kjaer KW, Ullmann R, Melegh B, Tommerup N, Kosztolányi G. Tészás A, et al. Among authors: kellermayer r. Am J Med Genet A. 2008 Oct 1;146A(19):2570-3. doi: 10.1002/ajmg.a.32394. Am J Med Genet A. 2008. PMID: 18792978 No abstract available.

9

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. 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.

10

A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis.

Kellermayer R, Halvax L, Czakó M, Shahid M, Dhillon VS, Husain SA, Süle N, Gömöri E, Mammel M, Kosztolányi G. Kellermayer R, et al. Diagn Mol Pathol. 2005 Sep;14(3):159-63. doi: 10.1097/01.pas.0000176770.56541.dd. Diagn Mol Pathol. 2005. PMID: 16106197

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