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694 results

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Page 1
Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.
Honke J, Hoffmann L, Coras R, Kobow K, Leu C, Pieper T, Hartlieb T, Bien CG, Woermann F, Cloppenborg T, Kalbhenn T, Gaballa A, Hamer H, Brandner S, Rössler K, Dörfler A, Rampp S, Lemke JR, Baldassari S, Baulac S, Lal D, Nürnberg P, Blümcke I. Honke J, et al. Among authors: nurnberg p. Acta Neuropathol Commun. 2023 Nov 9;11(1):179. doi: 10.1186/s40478-023-01675-x. Acta Neuropathol Commun. 2023. PMID: 37946310 Free PMC article.
Circulating Tumor DNA Sequencing for Biologic Classification and Individualized Risk Stratification in Patients With Hodgkin Lymphoma.
Heger JM, Mammadova L, Mattlener J, Sobesky S, Cirillo M, Altmüller J, Kirst E, Reinke S, Klapper W, Bröckelmann PJ, Ferdinandus J, Kaul H, Schneider G, Schneider J, Schleifenbaum JK, Ullrich RT, Freihammer M, Awerkiew S, Lohmann M, Klein F, Nürnberg P, Hallek M, Rossi D, Mauz-Körholz C, Gattenlöhner S, Bräuninger A, Borchmann P, von Tresckow B, Borchmann S. Heger JM, et al. Among authors: nurnberg p. J Clin Oncol. 2024 Sep 30:JCO2301867. doi: 10.1200/JCO.23.01867. Online ahead of print. J Clin Oncol. 2024. PMID: 39348625
TERT Expression and Clinical Outcome in Pulmonary Carcinoids.
Werr L, Bartenhagen C, Rosswog C, Cartolano M, Voegele C, Sexton-Oates A, Di Genova A, Ernst A, Kahlert Y, Hemstedt N, Höppner S, Mansuet Lupo A, Pelosi G, Brcic L, Papotti M, George J, Bosco G, Quaas A, Tang LH, Robzyk K, Kadota K, Roh MS, Fanaroff RE, Falcon CJ, Büttner R, Lantuejoul S, Rekhtman N, Rudin CM, Travis WD, Alcala N, Fernandez-Cuesta L, Foll M, Peifer M, Thomas RK, Fischer M; Lung NEN Network. Werr L, et al. J Clin Oncol. 2024 Sep 30:JCO2302708. doi: 10.1200/JCO.23.02708. Online ahead of print. J Clin Oncol. 2024. PMID: 39348606
Polygenic risk scores for nicotine use and family history of smoking are associated with smoking behaviour.
Foo JC, Völker MP, Streit F, Frank J, Zacharias N, Zillich L, Sirignano L, Nürnberg P, Wienker TF, Wagner M, Nöthen MM, Nothnagel M, Walter H, Lenz B, Spanagel R, Kiefer F, Winterer G, Rietschel M, Witt SH. Foo JC, et al. Among authors: nurnberg p. Drug Alcohol Depend. 2024 Oct 1;263:112415. doi: 10.1016/j.drugalcdep.2024.112415. Epub 2024 Aug 15. Drug Alcohol Depend. 2024. PMID: 39197361 Free article.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: nurnberg p. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
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: nurnberg p. Genet Med. 2024 Jul;26(7):101143. doi: 10.1016/j.gim.2024.101143. Epub 2024 Apr 16. Genet Med. 2024. PMID: 38641995 Free article.
Olaparib Addition to Maintenance Bevacizumab Therapy in Ovarian Carcinoma With BRCA-Like Genomic Aberrations.
Schouten PC, Schmidt S, Becker K, Thiele H, Nürnberg P, Richters L, Ernst C, Treilleux I, Medioni J, Heitz F, Pisano C, Garcia Y, Petru E, Hietanen S, Colombo N, Vergote I, Nagao S, Linn SC, Pujade-Lauraine E, Ray-Coquard I, Harter P, Hahnen E, Schmutzler RK. Schouten PC, et al. Among authors: nurnberg p. JAMA Netw Open. 2024 Apr 1;7(4):e245552. doi: 10.1001/jamanetworkopen.2024.5552. JAMA Netw Open. 2024. PMID: 38592722 Free PMC article. Clinical Trial.
694 results