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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
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.
Neuroendocrinology. 2021;111(12):1176-1186. doi: 10.1159/000513248. Epub 2020 Nov 23.
Neuroendocrinology. 2021.
PMID: 33227799
Free article.
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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.
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.
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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.
Hum Mol Genet. 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026.
Hum Mol Genet. 2021.
PMID: 33693784
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Reprogramming of the cambium regulators during adventitious root development upon wounding of storage tap roots in radish (Raphanus sativus L.).
Aliaga Fandino AC, Kim H, Rademaker JD, Lee JY.
Aliaga Fandino AC, et al. Among authors: rademaker jd.
Biol Open. 2019 Mar 12;8(3):bio039677. doi: 10.1242/bio.039677.
Biol Open. 2019.
PMID: 30787007
Free PMC article.
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