Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Nataliya DiDonato"'
Autor:
Melina Wiedmann, Sören Kuitunen-Paul, Lukas Andreas Basedow, Max Wolff, Nataliya DiDonato, Julia Franzen, Wolfgang Wagner, Veit Roessner, Yulia Golub
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract The association between extent of chronic cannabis use (CCU-extent) and cognitive impairment among adolescents has been the subject of controversial debate. Linking DNA methylation to CCU-extent could help to understand cannabis associated c
Externí odkaz:
https://doaj.org/article/3d3b3703f90148c3b3dc0e37a82062c2
Autor:
Andreas Rump, Anna Benet-Pages, Steffen Schubert, Jan Dominik Kuhlmann, Ramūnas Janavičius, Eva Macháčková, Lenka Foretová, Zdenek Kleibl, Filip Lhota, Petra Zemankova, Elitza Betcheva-Krajcir, Luisa Mackenroth, Karl Hackmann, Janin Lehmann, Anke Nissen, Nataliya DiDonato, Romy Opitz, Holger Thiele, Karin Kast, Pauline Wimberger, Elke Holinski-Feder, Steffen Emmert, Evelin Schröck, Barbara Klink
Publikováno v:
PLoS Genetics, Vol 12, Iss 8, p e1006248 (2016)
The increasing application of gene panels for familial cancer susceptibility disorders will probably lead to an increased proposal of susceptibility gene candidates. Using ERCC2 DNA repair gene as an example, we show that proof of a possible role in
Externí odkaz:
https://doaj.org/article/83403414084b4f70a80d691c919fb0d8
Autor:
Tao Sun, Vanessa Lopez-Pajares, Andreas Rump, Shiying Tao, Paul A. Khavari, Brian J. Zarnegar, Chenjian Li, Nataliya DiDonato, Xue Yang, Vafa Bayat, Zurab Siprashvili, Bingwei Lu, Yang Zhao
Publikováno v:
Hum Mol Genet
Missense mutations in the RNA exosome component exosome component 2 (EXOSC2), also known as ribosomal RNA-processing protein 4 (RRP4), were recently identified in two unrelated families with a novel syndrome known as Short stature, Hearing loss, Reti
Autor:
AK Lampe, Jamie Cruden, Peter D. Turnpenny, Joseph D. Symonds, J. S. Tan, Anita M. Devlin, Shelagh Joss, Suresh Somarathi, Tara Montgomery, Melissa Lees, Jelena Pozojevic, Ailsa McLellan, Nataliya DiDonato, Vivek Mundada, Lesley Nairn, Alan Donaldson, Ajoy Sarkar, Jens Schallner, David R. FitzPatrick, Frank J. Kaiser, Kay Metcalfe, William P Whitehouse, Ilaria Parenti, Sameer M. Zuberi
Publikováno v:
Symonds, J D, Joss, S, Metcalfe, K A, Somarathi, S, Cruden, J, Devlin, A M, Donaldson, A, DiDonato, N, Fitzpatrick, D, Kaiser, F J, Lampe, A K, Lees, M M, McLellan, A, Montgomery, T, Mundada, V, Nairn, L, Sarkar, A, Schallner, J, Pozojevic, J, Parenti, I, Tan, J, Turnpenny, P & Whitehouse, W P & Zuberi, S M 2017, ' Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females : Detailed phenotyping of 10 new cases ', Epilepsia, vol. 58, no. 4, pp. 565-575 . https://doi.org/10.1111/epi.13669
Objective:\ud \ud The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to fe
Autor:
Nataliya DiDonato, Maja von der Hagen, Maria Dehmel, Gabriele Hahn, Sonja Walsh, Sebastian Brenner
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Autor:
Steffen Emmert, Holger Thiele, Evelin Schröck, Eva Machackova, Karl Hackmann, Steffen Schubert, Filip Lhota, Luisa Mackenroth, Barbara Klink, Andreas Rump, Janin Lehmann, Romy Opitz, Karin Kast, Elitza Betcheva-Krajcir, Anna Benet-Pagès, Jan Dominik Kuhlmann, Petra Zemankova, Pauline Wimberger, Zdenek Kleibl, Nataliya DiDonato, Elke Holinski-Feder, Anke M. Nissen, Ramūnas Janavičius, Lenka Foretova
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 12, Iss 8, p e1006248 (2016)
PLoS Genetics, Vol 12, Iss 8, p e1006248 (2016)
The increasing application of gene panels for familial cancer susceptibility disorders will probably lead to an increased proposal of susceptibility gene candidates. Using ERCC2 DNA repair gene as an example, we show that proof of a possible role in
Autor:
Meinolf Suttorp, Luisa Mackenroth, Maria Dehmel, Gabriele Hahn, Nataliya DiDonato, Heike Schützle, M. von der Hagen, Reinhard Berner, Sebastian Brenner
Publikováno v:
Neuropediatrics. 46
Case Study: Hoyeraal-Hreidarsson syndrome (HHS; MIM #305000, Xq28) is a rare X-linked recessive multisystem disorder characterized by intrauterine growth retardation, microcephaly, severe developmental delay, cerebellar hypoplasia, and bone marrow fa
Autor:
Gabriele Hahn, S. Kinder, Nataliya DiDonato, Sandra Jackson, Jens Schallner, M. von der Hagen
Publikováno v:
Neuropediatrics. 45
Objective: The m.8993T>G mutation in the gene MT-ATP6 (MIM:516060) which encodes subunit six of complex V (adenosine triphosphate synthase) of the mitochondrial respiratory chain is one of the more common disease associated mutations in mitochondrial