Seeman P - Search Results

1

DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.

Šafka Brožková D, Laštůvková J, Machalová E, Lisoňová J, Trková M, Seeman P. Šafka Brožková D, et al. Among authors: seeman p. Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1681-4. doi: 10.1016/j.ijporl.2012.08.006. Epub 2012 Aug 27. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22951369

2

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

3

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

4

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

5

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

6

Mutations in the LMNA gene do not cause axonal CMT in Czech patients.

Lassuthová P, Baránková L, Haberlová J, Mazanec R, Wallace A, Huehne K, Rautenstrauss B, Seeman P. Lassuthová P, et al. Among authors: seeman p. J Hum Genet. 2009 Jun;54(6):365-8. doi: 10.1038/jhg.2009.43. Epub 2009 May 8. J Hum Genet. 2009. PMID: 19424285

7

High frequency of SH3TC2 mutations in Czech HMSN I patients.

Laššuthová P, Mazanec R, Vondráček P, Sišková D, Haberlová J, Sabová J, Seeman P. Laššuthová P, et al. Among authors: seeman p. Clin Genet. 2011 Oct;80(4):334-45. doi: 10.1111/j.1399-0004.2011.01640.x. Epub 2011 Mar 1. Clin Genet. 2011. PMID: 21291453

8

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.

Brožková D, Mazanec R, Rychlý Z, Haberlová J, Böhm J, Staněk J, Plevová P, Lisoňová J, Sabová J, Sakmaryová I, Seeman P. Brožková D, et al. Among authors: seeman p. Muscle Nerve. 2011 Nov;44(5):819-22. doi: 10.1002/mus.22189. Muscle Nerve. 2011. PMID: 22006697

9

Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.

Haberlová J, Mazanec R, Ridzoň P, Baránková L, Nürnberg G, Nürnberg P, Sticht H, Huehne K, Seeman P, Rautenstrauss B. Haberlová J, et al. Among authors: seeman p. J Neurogenet. 2011 Dec;25(4):182-8. doi: 10.3109/01677063.2011.627484. J Neurogenet. 2011. PMID: 22091729

10

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.

Šafka Brožková D, Laštůvková J, Štěpánková H, Krůtová M, Trková M, Myška P, Seeman P. Šafka Brožková D, et al. Among authors: seeman p. Clin Genet. 2012 Dec;82(6):579-82. doi: 10.1111/j.1399-0004.2011.01817.x. Epub 2011 Dec 13. Clin Genet. 2012. PMID: 22097895

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