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1990 1
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Page 1
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A. Zanoni P, et al. Among authors: lang muritano m. Genet Med. 2021 Aug;23(8):1474-1483. doi: 10.1038/s41436-021-01158-1. Epub 2021 May 3. Genet Med. 2021. PMID: 33941880 Free PMC article.
Estrogens: Two nuclear receptors, multiple possibilities.
Biason-Lauber A, Lang-Muritano M. Biason-Lauber A, et al. Among authors: lang muritano m. Mol Cell Endocrinol. 2022 Aug 20;554:111710. doi: 10.1016/j.mce.2022.111710. Epub 2022 Jul 2. Mol Cell Endocrinol. 2022. PMID: 35787463 Free article. Review.
Natural history of Wolcott-Rallison syndrome: A systematic review and follow-up study.
Aldrian D, Bochdansky C, Kavallar AM, Mayerhofer C, Deeb A, Habeb A, Romera Rabasa A, Khadilkar A, Uçar A, Knoppke B, Zafeiriou D, Lang-Muritano M, Miqdady M, Judmaier S, McLin V, Furdela V, Müller T, Vogel GF. Aldrian D, et al. Among authors: lang muritano m. Liver Int. 2024 Mar;44(3):811-822. doi: 10.1111/liv.15834. Epub 2024 Jan 17. Liver Int. 2024. PMID: 38230874
Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism.
Cotellessa L, Marelli F, Duminuco P, Adamo M, Papadakis GE, Bartoloni L, Sato N, Lang-Muritano M, Troendle A, Dhillo WS, Morelli A, Guarnieri G, Pitteloud N, Persani L, Bonomi M, Giacobini P, Vezzoli V. Cotellessa L, et al. Among authors: lang muritano m. JCI Insight. 2023 Mar 8;8(5):e161998. doi: 10.1172/jci.insight.161998. JCI Insight. 2023. PMID: 36729644 Free PMC article.
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: lang muritano 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.
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: lang muritano m. 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.
Epidermolysis bullosa junctionalis progressiva in three siblings.
Bircher AJ, Lang-Muritano M, Pfaltz M, Bruckner-Tuderman L. Bircher AJ, et al. Among authors: lang muritano m. Br J Dermatol. 1993 Apr;128(4):429-35. doi: 10.1111/j.1365-2133.1993.tb00204.x. Br J Dermatol. 1993. PMID: 8494757 Review.
37 results