Novotna D - Search Results

1

A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation.

Zunova H, Stolfa M, Kunikova T, Novotna D, Valkovicova R, Štěrbová K, Vlckova M. Zunova H, et al. Among authors: novotna d. Am J Med Genet A. 2023 Mar;191(3):870-877. doi: 10.1002/ajmg.a.63085. Epub 2022 Dec 22. Am J Med Genet A. 2023. PMID: 36548033

2

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

David J, Chrastina P, Pešková K, Kožich V, Friedecký D, Adam T, Hlídková E, Vinohradská H, Novotná D, Hedelová M, Al Taji E, Holubová A, Skalická V, Macek M, Gaillyová R, Votava F. David J, et al. Among authors: novotna d. Cent Eur J Public Health. 2019 Jun;27(2):153-159. doi: 10.21101/cejph.a5441. Cent Eur J Public Health. 2019. PMID: 31241292 Free article.

3

Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy.

Toni L, Dušátková P, Novotná D, Zemková D, Průhová Š, Lebl J. Toni L, et al. Among authors: novotna d. J Pediatr Endocrinol Metab. 2019 Jul 26;32(7):775-779. doi: 10.1515/jpem-2019-0107. J Pediatr Endocrinol Metab. 2019. PMID: 31199775

4

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.

Tesner P, Drabova J, Stolfa M, Kudr M, Kyncl M, Moslerova V, Novotna D, Kremlikova Pourova R, Kocarek E, Rasplickova T, Sedlacek Z, Vlckova M. Tesner P, et al. Among authors: novotna d. Mol Cytogenet. 2018 May 9;11:29. doi: 10.1186/s13039-018-0377-1. eCollection 2018. Mol Cytogenet. 2018. PMID: 29760779 Free PMC article.

5

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Slamova Z, Nazaryan-Petersen L, Mehrjouy MM, Drabova J, Hancarova M, Marikova T, Novotna D, Vlckova M, Vlckova Z, Bak M, Zemanova Z, Tommerup N, Sedlacek Z. Slamova Z, et al. Among authors: novotna d. Hum Mutat. 2018 May;39(5):709-716. doi: 10.1002/humu.23408. Epub 2018 Feb 20. Hum Mutat. 2018. PMID: 29405539

6

Effective Doses of Employees at the Former Uranium Processing Plant MAPE Mydlovary, Czechoslovakia.

Havránková R, Freitinger Skalická Z, Havránek J, Novotná D, Zölzer F. Havránková R, et al. Among authors: novotna d. Radiat Prot Dosimetry. 2017 Jun 15;175(2):171-177. doi: 10.1093/rpd/ncw282. Radiat Prot Dosimetry. 2017. PMID: 27765893

7

[Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report].

Puchmajerová A, Švojgr K, Novotná D, Macháčková E, Sumerauer D, Smíšek P, Kodet R, Kynčl M, Křepelová A, Foretová L. Puchmajerová A, et al. Among authors: novotna d. Klin Onkol. 2016;29 Suppl 1:S89-92. doi: 10.14735/amko2016s89. Klin Onkol. 2016. PMID: 26691948 Czech.

8

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.

Svojgr K, Sumerauer D, Puchmajerova A, Vicha A, Hrusak O, Michalova K, Malis J, Smisek P, Kyncl M, Novotna D, Machackova E, Jencik J, Pycha K, Vaculik M, Kodet R, Stary J. Svojgr K, et al. Among authors: novotna d. Eur J Med Genet. 2016 Mar;59(3):152-7. doi: 10.1016/j.ejmg.2015.11.013. Epub 2015 Dec 2. Eur J Med Genet. 2016. PMID: 26657402

9

Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.

Drabova J, Seemanova E, Hancarova M, Pourova R, Horacek M, Jancuskova T, Pekova S, Novotna D, Sedlacek Z. Drabova J, et al. Among authors: novotna d. Am J Med Genet A. 2015 Apr;167A(4):837-41. doi: 10.1002/ajmg.a.36957. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25735987

10

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.

Drabova J, Trkova M, Hancarova M, Novotna D, Hejtmankova M, Havlovicova M, Sedlacek Z. Drabova J, et al. Among authors: novotna d. Mol Cytogenet. 2014 Aug 19;7:51. doi: 10.1186/1755-8166-7-51. eCollection 2014. Mol Cytogenet. 2014. PMID: 25411581 Free PMC article.

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