Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

689 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: nurnberg p. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
Abdel-Salam GMH, Hellmuth S, Gradhand E, Käseberg S, Winter J, Pabst AS, Eid MM, Thiele H, Nürnberg P, Budde BS, Toliat MR, Brecht IB, Schroeder C, Gschwind A, Ossowski S, Häuser F, Rossmann H, Abdel-Hamid MS, Hegazy I, Mohamed AG, Schneider DT, Bertoli-Avella A, Bauer P, Pearring JN, Pfundt R, Hoischen A, Gilissen C, Strand D, Zechner U, Tashkandi SA, Faqeih EA, Stemmann O, Strand S, Bolz HJ. Abdel-Salam GMH, et al. Among authors: nurnberg p. JCI Insight. 2023 Nov 22;8(22):e170079. doi: 10.1172/jci.insight.170079. JCI Insight. 2023. PMID: 37796616 Free PMC article.
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad I, Lokau J, Kespohl B, Malik NA, Baig SM, Hartig R, Behme D, Schwab R, Altmüller J, Jameel M, Mucha S, Thiele H, Tariq M, Nürnberg P, Erdmann J, Garbers C. Ahmad I, et al. Among authors: nurnberg p. Sci Rep. 2023 Aug 18;13(1):13479. doi: 10.1038/s41598-023-39466-y. Sci Rep. 2023. PMID: 37596289 Free PMC article.
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber MK, Wilken B, Funke R, Neuhofer CM, Altmüller J, Thiele H, Nürnberg P, Biskup S, Li Y, Zimmermann WH, Kaulfuß S, Yigit G, Wollnik B. Schmidt J, et al. Among authors: nurnberg p. Front Cell Dev Biol. 2022 Nov 16;10:1025332. doi: 10.3389/fcell.2022.1025332. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36467423 Free PMC 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 Apr 16:101143. doi: 10.1016/j.gim.2024.101143. Online ahead of print. 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.
Evolutionary trajectories of small cell lung cancer under therapy.
George J, Maas L, Abedpour N, Cartolano M, Kaiser L, Fischer RN, Scheel AH, Weber JP, Hellmich M, Bosco G, Volz C, Mueller C, Dahmen I, John F, Alves CP, Werr L, Panse JP, Kirschner M, Engel-Riedel W, Jürgens J, Stoelben E, Brockmann M, Grau S, Sebastian M, Stratmann JA, Kern J, Hummel HD, Hegedüs B, Schuler M, Plönes T, Aigner C, Elter T, Toepelt K, Ko YD, Kurz S, Grohé C, Serke M, Höpker K, Hagmeyer L, Doerr F, Hekmath K, Strapatsas J, Kambartel KO, Chakupurakal G, Busch A, Bauernfeind FG, Griesinger F, Luers A, Dirks W, Wiewrodt R, Luecke A, Rodermann E, Diel A, Hagen V, Severin K, Ullrich RT, Reinhardt HC, Quaas A, Bogus M, Courts C, Nürnberg P, Becker K, Achter V, Büttner R, Wolf J, Peifer M, Thomas RK. George J, et al. Among authors: nurnberg p. Nature. 2024 Mar;627(8005):880-889. doi: 10.1038/s41586-024-07177-7. Epub 2024 Mar 13. Nature. 2024. PMID: 38480884 Free PMC article.
Structural disconnectivity in postoperative delirium: A perioperative two-center cohort study in older patients.
Fislage M, Winzeck S, Woodrow R, Lammers-Lietz F, Stamatakis EA, Correia MM, Preller J, Feinkohl I, Hendrikse J, Pischon T, Spies CD, Slooter AJC, Winterer G, Menon DK, Zacharias N; BioCog Consortium. Fislage M, et al. Alzheimers Dement. 2024 Apr;20(4):2861-2872. doi: 10.1002/alz.13749. Epub 2024 Mar 7. Alzheimers Dement. 2024. PMID: 38451782 Free PMC article.
689 results