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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: simoes mj. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.
Carmona S, da Luz Freitas M, Froufe H, Simões MJ, Sampaio MJ, Silva ED, Egas C. Carmona S, et al. Among authors: simoes mj. Am J Med Genet A. 2017 Jun;173(6):1607-1610. doi: 10.1002/ajmg.a.38234. Epub 2017 Apr 21. Am J Med Genet A. 2017. PMID: 28432732 No abstract available.
SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.
Young TL, Whisenhunt KN, Jin J, LaMartina SM, Martin SM, Souma T, Limviphuvadh V, Suri F, Souzeau E, Zhang X, Dan Y, Anagnos E, Carmona S, Jody NM, Stangel N, Higuchi EC, Huang SJ, Siggs OM, Simões MJ, Lawson BM, Martin JS, Elahi E, Narooie-Nejad M, Motlagh BF, Quaggin SE, Potter HD, Silva ED, Craig JE, Egas C, Maroofian R, Maurer-Stroh S, Bradfield YS, Tompson SW. Young TL, et al. Among authors: simoes mj. Invest Ophthalmol Vis Sci. 2020 Oct 1;61(12):6. doi: 10.1167/iovs.61.12.6. Invest Ophthalmol Vis Sci. 2020. PMID: 33027505 Free PMC article.
Antioxidant Actions of Melatonin: A Systematic Review of Animal Studies.
Monteiro KKAC, Shiroma ME, Damous LL, Simões MJ, Simões RDS, Cipolla-Neto J, Baracat EC, Soares-Jr JM. Monteiro KKAC, et al. Among authors: simoes mj. Antioxidants (Basel). 2024 Apr 7;13(4):439. doi: 10.3390/antiox13040439. Antioxidants (Basel). 2024. PMID: 38671887 Free PMC article. Review.
197 results