Krepelova A - Search Results

1

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.

Zieg J, Krepelova A, Baradaran-Heravi A, Levtchenko E, Guillén-Navarro E, Balascakova M, Sukova M, Seeman T, Dusek J, Simankova N, Rosik T, Skalova S, Lebl J, Boerkoel CF. Zieg J, et al. Among authors: krepelova a. Pediatr Rheumatol Online J. 2011 Sep 13;9(1):27. doi: 10.1186/1546-0096-9-27. Pediatr Rheumatol Online J. 2011. PMID: 21914180 Free PMC article.

2

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.

Nemcikova M, Vejvalkova S, Fencl F, Sukova M, Krepelova A. Nemcikova M, et al. Among authors: krepelova a. Eur J Pediatr. 2016 Apr;175(4):587-92. doi: 10.1007/s00431-015-2658-6. Epub 2015 Oct 31. Eur J Pediatr. 2016. PMID: 26518681 Review.

3

Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.

Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A. Zmolikova M, et al. Among authors: krepelova a. Am J Med Genet A. 2014 May;164A(5):1218-21. doi: 10.1002/ajmg.a.36404. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458596

4

Elejalde syndrome--a case report.

Silhánová E, Plevová P, Curík R, Kaspercík I, Krepelová A. Silhánová E, et al. Among authors: krepelova a. Am J Med Genet A. 2006 Oct 15;140(20):2223-6. doi: 10.1002/ajmg.a.31419. Am J Med Genet A. 2006. PMID: 16969863

5

Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.

Krepelova A, Simandlova M, Vlckova M, Kuthan P, Vincent AL, Liskova P. Krepelova A, et al. Clin Exp Ophthalmol. 2016 Dec;44(9):757-762. doi: 10.1111/ceo.12783. Epub 2016 Jul 1. Clin Exp Ophthalmol. 2016. PMID: 27283035

6

Mutations in STK11 gene in Czech Peutz-Jeghers patients.

Vasovcák P, Puchmajerová A, Roubalík J, Krepelová A. Vasovcák P, et al. Among authors: krepelova a. BMC Med Genet. 2009 Jul 19;10:69. doi: 10.1186/1471-2350-10-69. BMC Med Genet. 2009. PMID: 19615099 Free PMC article.

7

Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

Vasovcak P, Krepelova A, Menigatti M, Puchmajerova A, Skapa P, Augustinakova A, Amann G, Wernstedt A, Jiricny J, Marra G, Wimmer K. Vasovcak P, et al. Among authors: krepelova a. DNA Repair (Amst). 2012 Jul 1;11(7):616-23. doi: 10.1016/j.dnarep.2012.04.004. Epub 2012 May 17. DNA Repair (Amst). 2012. PMID: 22608206 Free PMC article.

8

Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.

Musova Z, Sedlacek Z, Mazanec R, Klempir J, Roth J, Plevova P, Vyhnalek M, Kopeckova M, Apltova L, Krepelova A, Zumrova A. Musova Z, et al. Among authors: krepelova a. Cerebellum. 2013 Apr;12(2):155-61. doi: 10.1007/s12311-012-0403-5. Cerebellum. 2013. PMID: 22872568

9

Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: case report.

Vasovčák P, Senkeříková M, Hatlová J, Křepelová A. Vasovčák P, et al. Among authors: krepelova a. BMC Med Genet. 2011 Mar 15;12:38. doi: 10.1186/1471-2350-12-38. BMC Med Genet. 2011. PMID: 21406108 Free PMC article.

10

A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.

Musova Z, Kaiserova M, Kriegova E, Fillerova R, Vasovcak P, Santava A, Mensikova K, Zumrova A, Krepelova A, Sedlacek Z, Kanovsky P. Musova Z, et al. Among authors: krepelova a. Cerebellum. 2014 Jun;13(3):331-7. doi: 10.1007/s12311-013-0538-z. Cerebellum. 2014. PMID: 24272953

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