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Page 1
NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
Chachlaki K, Messina A, Delli V, Leysen V, Maurnyi C, Huber C, Ternier G, Skrapits K, Papadakis G, Shruti S, Kapanidou M, Cheng X, Acierno J, Rademaker J, Rasika S, Quinton R, Niedziela M, L'Allemand D, Pignatelli D, Dirlewander M, Lang-Muritano M, Kempf P, Catteau-Jonard S, Niederländer NJ, Ciofi P, Tena-Sempere M, Garthwaite J, Storme L, Avan P, Hrabovszky E, Carleton A, Santoni F, Giacobini P, Pitteloud N, Prevot V. Chachlaki K, et al. Among authors: rademaker j. Sci Transl Med. 2022 Oct 5;14(665):eabh2369. doi: 10.1126/scitranslmed.abh2369. Epub 2022 Oct 5. Sci Transl Med. 2022. PMID: 36197968 Free PMC article.
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Acierno JS, Xu C, Papadakis GE, Niederländer NJ, Rademaker JD, Meylan J, Messina A, Kolesinska Z, Quinton R, Lang-Muritano M, Bartholdi D, Halperin I, De Geyter C, Bouligand J, Bartoloni L, Young J, Santoni FA, Pitteloud N. Acierno JS, et al. Among authors: rademaker jd. Genet Med. 2020 Nov;22(11):1759-1767. doi: 10.1038/s41436-020-0896-0. Epub 2020 Jul 29. Genet Med. 2020. PMID: 32724172 Free article.
Kisspeptin-54 Accurately Identifies Hypothalamic Gonadotropin-Releasing Hormone Neuronal Dysfunction in Men with Congenital Hypogonadotropic Hypogonadism.
Abbara A, Eng PC, Phylactou M, Clarke SA, Mills E, Chia G, Yang L, Izzi-Engbeaya C, Smith N, Jayasena CN, Comninos AN, Anand-Ivell R, Rademaker J, Xu C, Quinton R, Pitteloud N, Dhillo WS. Abbara A, et al. Among authors: rademaker j. Neuroendocrinology. 2021;111(12):1176-1186. doi: 10.1159/000513248. Epub 2020 Nov 23. Neuroendocrinology. 2021. PMID: 33227799 Free article.
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA. Antonarakis SE, et al. Among authors: rademaker j. Hum Mol Genet. 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. Hum Mol Genet. 2021. PMID: 33693784
A phase 2 biomarker-driven study of ruxolitinib demonstrates effectiveness of JAK/STAT targeting in T-cell lymphomas.
Moskowitz AJ, Ghione P, Jacobsen E, Ruan J, Schatz JH, Noor S, Myskowski P, Vardhana S, Ganesan N, Hancock H, Davey T, Perez L, Ryu S, Santarosa A, Dowd J, Obadi O, Pomerantz L, Yi N, Sohail S, Galasso N, Neuman R, Liotta B, Blouin W, Baik J, Geyer MB, Noy A, Straus D, Kumar P, Dogan A, Hollmann T, Drill E, Rademaker J, Schoder H, Inghirami G, Weinstock DM, Horwitz SM. Moskowitz AJ, et al. Among authors: rademaker j. Blood. 2021 Dec 30;138(26):2828-2837. doi: 10.1182/blood.2021013379. Blood. 2021. PMID: 34653242 Free PMC article. Clinical Trial.
Phase I/Ib Study of the Efficacy and Safety of Buparlisib and Ibrutinib Therapy in MCL, FL, and DLBCL with Serial Cell-Free DNA Monitoring.
Stewart CM, Michaud L, Whiting K, Nakajima R, Nichols C, De Frank S, Hamlin PA Jr, Matasar MJ, Gerecitano JF, Drullinsky P, Hamilton A, Straus D, Horwitz SM, Kumar A, Moskowitz CH, Moskowitz A, Zelenetz AD, Rademaker J, Salles G, Seshan V, Schöder H, Younes A, Tsui DWY, Batlevi CL. Stewart CM, et al. Among authors: rademaker j. Clin Cancer Res. 2022 Jan 1;28(1):45-56. doi: 10.1158/1078-0432.CCR-21-2183. Epub 2021 Oct 6. Clin Cancer Res. 2022. PMID: 34615723 Free PMC article. Clinical Trial.
Romidepsin and lenalidomide-based regimens have efficacy in relapsed/refractory lymphoma: Combined analysis of two phase I studies with expansion cohorts.
Mehta-Shah N, Lunning MA, Moskowitz AJ, Boruchov AM, Ruan J, Lynch P, Hamlin PA, Leonard J, Matasar MJ, Myskowski PL, Marzouk E, Nair S, Sholklapper T, Minnal V, Palomba ML, Vredenburgh J, Kumar A, Noy A, Straus DJ, Zelenetz AD, Schoder H, Rademaker J, Schaffer W, Galasso N, Ganesan N, Horwitz SM. Mehta-Shah N, et al. Among authors: rademaker j. Am J Hematol. 2021 Oct 1;96(10):1211-1222. doi: 10.1002/ajh.26288. Epub 2021 Jul 29. Am J Hematol. 2021. PMID: 34251048 Free PMC article. Clinical Trial.
Esomeprazole and aspirin in Barrett's oesophagus (AspECT): a randomised factorial trial.
Jankowski JAZ, de Caestecker J, Love SB, Reilly G, Watson P, Sanders S, Ang Y, Morris D, Bhandari P, Brooks C, Attwood S, Harrison R, Barr H, Moayyedi P; AspECT Trial Team. Jankowski JAZ, et al. Lancet. 2018 Aug 4;392(10145):400-408. doi: 10.1016/S0140-6736(18)31388-6. Epub 2018 Jul 26. Lancet. 2018. PMID: 30057104 Free PMC article. Clinical Trial.
100 results