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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: niedziela m. 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.
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N. Miraoui H, et al. Among authors: niedziela m. Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. Am J Hum Genet. 2013. PMID: 23643382 Free PMC article.
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
COST Action BM1105; Badiu C, Bonomi M, Borshchevsky I, Cools M, Craen M, Ghervan C, Hauschild M, Hershkovitz E, Hrabovszky E, Juul A, Kim SH, Kumanov P, Lecumberri B, Lemos MC, Neocleous V, Niedziela M, Djurdjevic SP, Persani L, Phan-Hug F, Pignatelli D, Pitteloud N, Popovic V, Quinton R, Skordis N, Smith N, Stefanija MA, Xu C, Young J, Dwyer AA. COST Action BM1105, et al. Among authors: niedziela m. Orphanet J Rare Dis. 2017 Mar 20;12(1):57. doi: 10.1186/s13023-017-0608-2. Orphanet J Rare Dis. 2017. PMID: 28320476 Free PMC article.
PAPP-A2 a new key regulator of growth.
Banaszak-Ziemska M, Niedziela M. Banaszak-Ziemska M, et al. Among authors: niedziela m. Endokrynol Pol. 2017;68(6):682-691. doi: 10.5603/EP.a2017.0060. Endokrynol Pol. 2017. PMID: 29238946 Free article. Review.
Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry.
Stancampiano MR, Lucas-Herald AK, Bryce J, Russo G, Barera G, Balsamo A, Baronio F, Bertelloni S, Valiani M, Cools M, Tack LJW, Darendeliler F, Poyrazoglu S, Globa E, Grinspon R, Hannema SE, Hughes IA, Tadokoro-Cuccaro R, Thankamony A, Iotova V, Mladenov V, Konrad D, Mazen I, Niedziela M, Kolesinska Z, Nordenström A, Ahmed SF. Stancampiano MR, et al. Among authors: niedziela m. Sex Dev. 2021;15(4):236-243. doi: 10.1159/000516784. Epub 2021 Jul 7. Sex Dev. 2021. PMID: 34350903 Free article.
Familial central precocious puberty: two novel MKRN3 mutations.
Varimo T, Iivonen AP, Känsäkoski J, Wehkalampi K, Hero M, Vaaralahti K, Miettinen PJ, Niedziela M, Raivio T. Varimo T, et al. Among authors: niedziela m. Pediatr Res. 2021 Aug;90(2):431-435. doi: 10.1038/s41390-020-01270-z. Epub 2020 Nov 19. Pediatr Res. 2021. PMID: 33214675
287 results