Seeman P - Search Results

1

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.

Seeman P, Malíková M, Rasková D, Bendová O, Groh D, Kubálková M, Sakmaryová I, Seemanová E, Kabelka Z. Seeman P, et al. Clin Genet. 2004 Aug;66(2):152-7. doi: 10.1111/j.1399-0004.2004.00283.x. Clin Genet. 2004. PMID: 15253766

2

Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.

Seeman P, Mazanec R, Ctvrtecková M, Smilková D. Seeman P, et al. Int J Mol Med. 2001 Oct;8(4):461-8. Int J Mol Med. 2001. PMID: 11562788

3

A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.

Seeman P, Paderova K, Benes V Jr, Sistermans EA. Seeman P, et al. Int J Mol Med. 2002 Feb;9(2):125-9. Int J Mol Med. 2002. PMID: 11786921

4

[Chromosome instability syndromes].

Seemanová E, Seeman P, Jarolím P. Seemanová E, et al. Among authors: seeman p. Cas Lek Cesk. 2002;141(1):16-22. Cas Lek Cesk. 2002. PMID: 11899541 Czech.

5

Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.

Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E. Seeman P, et al. Pediatr Neurol. 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. Pediatr Neurol. 2004. PMID: 15033202

6

[Nijmegen breakage syndrome in Slovakia].

Seemanová E, Pohanka V, Seeman P, Misovicová N, Behunová J, Kvasnicová M, Dlholucký S, Valachová A, Cisarik F, Veghová E, Varon R, Sperling K. Seemanová E, et al. Among authors: seeman p. Cas Lek Cesk. 2004;143(8):538-41; discussion 542. Cas Lek Cesk. 2004. PMID: 15446459 Czech.

7

Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population.

Seeman P, Bendová O, Rasková D, Malíková M, Groh D, Kabelka Z. Seeman P, et al. Ann Hum Genet. 2005 Jan;69(Pt 1):9-14. doi: 10.1046/j.1529-8817.2003.00120.x. Ann Hum Genet. 2005. PMID: 15638823

8

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.

Seemanová E, Sperling K, Neitzel H, Varon R, Hadac J, Butova O, Schröck E, Seeman P, Digweed M. Seemanová E, et al. Among authors: seeman p. J Med Genet. 2006 Mar;43(3):218-24. doi: 10.1136/jmg.2005.035287. Epub 2005 Jul 20. J Med Genet. 2006. PMID: 16033915 Free PMC article.

9

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: seeman p. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.

10

[Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome].

Seemanová E, Jarolím P, Seeman P, Varon R, Sperling K. Seemanová E, et al. Among authors: seeman p. Cas Lek Cesk. 2006;145(2):138-43. Cas Lek Cesk. 2006. PMID: 16521404 Czech.

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