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103 results

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Page 1
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: ciara e. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M. Jurkiewicz D, et al. Among authors: ciara e. Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15. Eur J Med Genet. 2010. PMID: 20637903
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Ciara E, Rokicki D, Halat P, Karkucińska-Więckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymańska-Dębińska T, Pronicki M, Pajdowska M, Dudzińska M, Giżewska M, Krajewska-Walasek M, Książyk J, Sperl W, Płoski R, Pronicka E. Ciara E, et al. Mol Genet Metab Rep. 2016 Apr 18;7:70-6. doi: 10.1016/j.ymgmr.2016.03.004. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27144126 Free PMC article.
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. Among authors: ciara e. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Alston CL, et al. Among authors: ciara e. Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374774 Free PMC article.
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.
Piekutowska-Abramczuk D, Mierzewska H, Bekiesińska-Figatowska M, Ciara E, Trubicka J, Pronicki M, Rokicki D, Rydzanicz M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: ciara e. Folia Neuropathol. 2016;54(4):405-409. doi: 10.5114/fn.2016.64819. Folia Neuropathol. 2016. PMID: 28139822 Free article.
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
Trubicka J, Żemojtel T, Hecht J, Falana K, Piekutowska-Abramczuk D, Płoski R, Perek-Polnik M, Drogosiewicz M, Grajkowska W, Ciara E, Moszczyńska E, Dembowska-Bagińska B, Perek D, Chrzanowska KH, Krajewska-Walasek M, Łastowska M. Trubicka J, et al. Among authors: ciara e. BMC Cancer. 2017 Apr 4;17(1):239. doi: 10.1186/s12885-017-3211-y. BMC Cancer. 2017. PMID: 28376765 Free PMC article.
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Rokicki D, Pajdowska M, Trubicka J, Thong MK, Ciara E, Piekutowska-Abramczuk D, Pronicki M, Sikora R, Haidar R, Ołtarzewski M, Jabłońska E, Muthukumarasamy P, Sthaneswar P, Gan CS, Krajewska-Walasek M, Carrozzo R, Verrigni D, Semeraro M, Rizzo C, Taurisano R, Alhaddad B, Kovacs-Nagy R, Haack TB, Dionisi-Vici C, Pronicka E, Wortmann SB. Rokicki D, et al. Among authors: ciara e. Clin Chim Acta. 2017 Aug;471:95-100. doi: 10.1016/j.cca.2017.05.023. Epub 2017 May 17. Clin Chim Acta. 2017. PMID: 28526534
Tyrosinemia type III in an asymptomatic girl.
Szymanska E, Sredzinska M, Ciara E, Piekutowska-Abramczuk D, Ploski R, Rokicki D, Tylki-Szymanska A. Szymanska E, et al. Among authors: ciara e. Mol Genet Metab Rep. 2015 Oct 22;5:48-50. doi: 10.1016/j.ymgmr.2015.10.004. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649543 Free PMC article.
103 results