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A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Shamseldin HE, Sadagopan M, Martini J, Al-Ali R, Radefeldt M, Ataei M, Lemke S, Rahbeeni Z, Al Mutairi F, Ababneh F, AlRukban HA, Abdulwahab F, Alhajj SM, Bauer P, Bertoli-Avella A, Alkuraya FS. Shamseldin HE, et al. Among authors: martini j. Hum Genet. 2023 Oct;142(10):1491-1498. doi: 10.1007/s00439-023-02597-3. Epub 2023 Sep 1. Hum Genet. 2023. PMID: 37656279
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Kraatari-Tiri M, Soikkonen L, Myllykoski M, Jamshidi Y, Karimiani EG, Komulainen-Ebrahim J, Kallankari H, Mignot C, Depienne C, Keren B, Nougues MC, Alsahlawi Z, Romito A, Martini J, Toosi MB, Carroll CJ, Tripolszki K, Bauer P, Uusimaa J, Bertoli-Avella AM, Koivunen P, Rahikkala E. Kraatari-Tiri M, et al. Among authors: martini j. Clin Genet. 2022 Nov;102(5):444-450. doi: 10.1111/cge.14203. Epub 2022 Aug 19. Clin Genet. 2022. PMID: 35908151 Free PMC article. Review.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM. Faqeih EA, et al. Among authors: martini j. Genet Med. 2023 Feb;25(2):100323. doi: 10.1016/j.gim.2022.10.006. Epub 2022 Nov 19. Genet Med. 2023. PMID: 36401616 Free article.
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.
Zonic E, Ferreira M, Pardo LM, Martini J, Rocha ME, Aanicai R, Ordonez-Herrera N, Saravanakumar D, Almeida LS, Fernandes IC, Gulati N, Mannepalli S, Hercegovac A, Al-Ali R, Pereira C, Paknia O, Hladnik U, Bauer P, Pinto Basto J, Bertoli-Avella AM. Zonic E, et al. Among authors: martini j. Genet Med Open. 2023 Sep 9;1(1):100833. doi: 10.1016/j.gimo.2023.100833. eCollection 2023. Genet Med Open. 2023. PMID: 39669245 Free PMC article.
Association between a large change between the minimum and maximum monthly values of solar insolation and a history of suicide attempts in bipolar I disorder.
Ritter P, Glenn T, Achtyes ED, Alda M, Agaoglu E, Altınbaş K, Andreassen OA, Angelopoulos E, Ardau R, Aydin M, Ayhan Y, Baethge C, Bauer R, Baune BT, Balaban C, Becerra-Palars C, Behere AP, Behere PB, Belete H, Belete T, Belizario GO, Bellivier F, Belmaker RH, Benedetti F, Berk M, Bersudsky Y, Bicakci Ş, Birabwa-Oketcho H, Bjella TD, Brady C, Cabrera J, Cappucciati M, Castro AMP, Chen WL, Cheung EYW, Chiesa S, Chanopoulou M, Crowe M, Cuomo A, Dallaspezia S, Desai P, Dodd S, Etain B, Fagiolini A, Fellendorf FT, Ferensztajn-Rochowiak E, Fiedorowicz JG, Fountoulakis KN, Frye MA, Geoffroy PA, Gitlin MJ, Gonzalez-Pinto A, Gottlieb JF, Grof P, Haarman BCM, Harima H, Hasse-Sousa M, Henry C, Hoffding L, Houenou J, Imbesi M, Isometsä ET, Ivkovic M, Janno S, Johnsen S, Kapczinski F, Karakatsoulis GN, Kardell M, Kessing LV, Kim SJ, König B, Kot TL, Koval M, Kunz M, Lafer B, Landén M, Larsen ER, Licht RW, Ludwig VM, Lopez-Jaramillo C, MacKenzie A, Madsen HØ, Madsen SAKA, Mahadevan J, Mahardika A, Manchia M, Marsh W, Martinez-Cengotitabengoa M, Martini J, Martiny K, Mashima Y, McLoughlin DM, Meesters ANR, Meesters Y, Melle I, Meza-Urzúa F, Michaelis E, Mikolas P, Mok YM, Monteith S, Moo… See abstract for full author list ➔ Ritter P, et al. Among authors: martini j. Int J Bipolar Disord. 2024 Dec 23;12(1):43. doi: 10.1186/s40345-024-00364-5. Int J Bipolar Disord. 2024. PMID: 39714599 Free PMC article.
445 results