Martina Simandlova

Martina Simandlova

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Martina Simandlova

Martina Simandlova

Publications by authors named "Martina Simandlova"

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9Publications

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

Clin Exp Ophthalmol 2016 Dec 1;44(9):757-762. Epub 2016 Jul 1.

Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1111/ceo.12783DOI Listing
December 2016

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

Eur J Med Genet 2015 Oct 11;58(10):550-5. Epub 2015 Sep 11.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.ejmg.2015.09.004DOI Listing
October 2015

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.

Am J Med Genet A 2013 Apr 12;161A(4):865-70. Epub 2013 Mar 12.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.35783DOI Listing
April 2013

Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.

Neuro Endocrinol Lett 2006 Oct;27(5):579-85

Institute of Biology and Medical Genetics, Charles University Second Medical School and University Hospital Motol, Prague, Czech Republic.

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October 2006