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Page 1
Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.
Knopp C, Steiner R, Lausberg E, Hoegen CV, Busse S, Meyer R, Eggermann K, Schüler H, Begemann M, Eggermann T, Kurth I, Schulz JB, Elbracht M, Maier A. Knopp C, et al. Among authors: kurth i. Dtsch Arztebl Int. 2022 Dec 27;119(51-52):895-896. doi: 10.3238/arztebl.m2022.0312. Dtsch Arztebl Int. 2022. PMID: 36892325 Free PMC article. No abstract available.
Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria.
Tometten M, Kirschner M, Meyer R, Begemann M, Halfmeyer I, Vieri M, Kricheldorf K, Maurer A, Platzbecker U, Radsak M, Schafhausen P, Corbacioglu S, Höchsmann B, Matthias Wilk C, Hinze C, Chromik J, Heuser M, Kreuter M, Koschmieder S, Panse J, Isfort S, Kurth I, Brümmendorf TH, Beier F. Tometten M, et al. Among authors: kurth i. Hemasphere. 2023 Apr 20;7(5):e874. doi: 10.1097/HS9.0000000000000874. eCollection 2023 May. Hemasphere. 2023. PMID: 37096215 Free PMC article.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK. Lin SJ, et al. Among authors: kurth i. Genome Med. 2023 Nov 29;15(1):102. doi: 10.1186/s13073-023-01258-4. Genome Med. 2023. PMID: 38031187 Free PMC article.
Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI.
Gaebler AJ, Fakour N, Stöhr F, Zweerings J, Taebi A, Suslova M, Dukart J, Hipp JF, Adhikari BM, Kochunov P, Muthukumaraswamy SD, Forsyth A, Eggermann T, Kraft F, Kurth I, Paulzen M, Gründer G, Schneider F, Mathiak K. Gaebler AJ, et al. Among authors: kurth i. Transl Psychiatry. 2023 Feb 16;13(1):59. doi: 10.1038/s41398-023-02344-2. Transl Psychiatry. 2023. PMID: 36797233 Free PMC article. Clinical Trial.
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle S, Scholz V, Benet-Pagés A, Wohlfrom T, Gehling S, Scharf F, Rost S, Prott EC, Grinzinger S, Hotter A, Haug V, Niemeier S, Wiethoff-Ubrig L, Hagenacker T, Goldhahn K, von Moers A, Walter MC, Reilich P, Eggermann K, Kraft F, Kurth I, Erdmann H, Holinski-Feder E, Neuhann T, Abicht A. Kleinle S, et al. Among authors: kurth i. J Neuromuscul Dis. 2023;10(5):835-846. doi: 10.3233/JND-221668. J Neuromuscul Dis. 2023. PMID: 37424474 Free PMC article.
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Asif M, Khayyat AIA, Alawbathani S, Abdullah U, Sanner A, Georgomanolis T, Haasters J, Becker K, Budde B, Becker C, Thiele H, Baig SM, Isidoro-García M, Winter D, Pogoda HM, Muhammad S, Hammerschmidt M, Kraft F, Kurth I, Martin HG, Wagner M, Nürnberg P, Hussain MS. Asif M, et al. Among authors: kurth i. Genet Med. 2024 Apr 16;26(7):101143. doi: 10.1016/j.gim.2024.101143. Online ahead of print. Genet Med. 2024. PMID: 38641995 Free article.
Epigenetic Targeting to Overcome Radioresistance in Head and Neck Cancer.
Schniewind I, Besso MJ, Klicker S, Schwarz FM, Hadiwikarta WW, Richter S, Löck S, Linge A, Krause M, Dubrovska A, Baumann M, Kurth I, Peitzsch C. Schniewind I, et al. Among authors: kurth i. Cancers (Basel). 2024 Feb 9;16(4):730. doi: 10.3390/cancers16040730. Cancers (Basel). 2024. PMID: 38398123 Free PMC article.
207 results