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Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.
Matuszewska KE, Badura-Stronka M, Śmigiel R, Cabała M, Biernacka A, Kosinska J, Rydzanicz M, Winczewska-Wiktor A, Sasiadek M, Latos-Bieleńska A, Żemojtel T, Płoski R. Matuszewska KE, et al. Among authors: zemojtel t. Clin Dysmorphol. 2018 Apr;27(2):49-52. doi: 10.1097/MCD.0000000000000212. Clin Dysmorphol. 2018. PMID: 29389715 No abstract available.
CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.
Badura-Stronka M, Winczewska-Wiktor A, Pietrzak A, Hirschfeld AS, Zemojtel T, Wołyńska K, Bednarek-Rajewska K, Seget-Dubaniewicz M, Matheisel A, Latos-Bielenska A, Steinborn B. Badura-Stronka M, et al. Among authors: zemojtel t. Genes (Basel). 2021 Jun 23;12(7):956. doi: 10.3390/genes12070956. Genes (Basel). 2021. PMID: 34201538 Free PMC article.
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Among authors: zemojtel t. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC 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: zemojtel t. BMC Cancer. 2017 Apr 4;17(1):239. doi: 10.1186/s12885-017-3211-y. BMC Cancer. 2017. PMID: 28376765 Free PMC article.
Mutations in proteasome-related genes are associated with thyroid hemiagenesis.
Budny B, Szczepanek-Parulska E, Zemojtel T, Szaflarski W, Rydzanicz M, Wesoly J, Handschuh L, Wolinski K, Piatek K, Niedziela M, Ziemnicka K, Figlerowicz M, Zabel M, Ruchala M. Budny B, et al. Among authors: zemojtel t. Endocrine. 2017 May;56(2):279-285. doi: 10.1007/s12020-017-1287-4. Epub 2017 Apr 7. Endocrine. 2017. PMID: 28390009 Free PMC article.
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.
Oheim R, Tsourdi E, Seefried L, Beller G, Schubach M, Vettorazzi E, Stürznickel J, Rolvien T, Ehmke N, Delsmann A, Genest F, Krüger U, Zemojtel T, Barvencik F, Schinke T, Jakob F, Hofbauer LC, Mundlos S, Kornak U. Oheim R, et al. Among authors: zemojtel t. J Clin Endocrinol Metab. 2022 Jun 16;107(7):e3048-e3057. doi: 10.1210/clinem/dgac147. J Clin Endocrinol Metab. 2022. PMID: 35276006 Free PMC article.
Next-generation diagnostics and disease-gene discovery with the Exomiser.
Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, Bone WP, Haendel MA, Robinson PN. Smedley D, et al. Among authors: zemojtel t. Nat Protoc. 2015 Dec;10(12):2004-15. doi: 10.1038/nprot.2015.124. Epub 2015 Nov 12. Nat Protoc. 2015. PMID: 26562621 Free PMC article.
66 results