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Page 1
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: almeida pm. 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.
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM; Undiagnosed Diseases Network; Yang Y, Posey JE, Lee BH. Rosenfeld JA, et al. Among authors: almeida pm. Am J Med Genet A. 2021 Jul;185(7):2037-2045. doi: 10.1002/ajmg.a.62201. Epub 2021 Apr 13. Am J Med Genet A. 2021. PMID: 33847457 Free PMC article.
EFOMP's protocol quality controls in PET/CT and PET/MR.
Matheoud R, Boellaard R, Pike L, Ptacek J, Reynés-Llompart G, Soret M, Vandenberghe S, Zorz A, Julyan P, Rausch I, Sattler B, Manuel SG, Tosi G, Dalianis K, Almeida PMD, Fabbri C, Gawel J, Hadjitheodorou P, Kotzasarlidou M, Viana Miranda Lima T, O'Doherty J, Skovorodko K, Sutov D, Taher A, Valenti M, Vanzi E. Matheoud R, et al. Among authors: almeida pmd. Phys Med. 2023 Jan;105:102506. doi: 10.1016/j.ejmp.2022.11.010. Epub 2022 Dec 18. Phys Med. 2023. PMID: 36538846
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, McNiven V, Dupuis L, Steindl K, Begemann A, Rauch A, Suter AA, Isidor B, Mercier S, Nizon M, Cogné B, Deb W, Besnard T, Haack TB, Falb RJ, Müller AJ, Linden T, Haldeman-Englert CR, Ockeloen CW, Mattioli F, Reymond A, Ibrahim N, Naz S, Lacaze E, Bassetti JA, Hoefele J, Brunet T, Riedhammer KM, Elloumi HZ, Person R, Zou F, Kahle JJ, Cremer K, Schmidt A, Delrue MA, Almeida PM, Ramos F, Srivastava S, Quinlan A, Robertson S, Manka E, Kuechler A, Spranger S, Nowaczyk MJM, Elshafie RM, Alsharhan H, Hillman PR, Dunnington LA, Braakman HMH, McKee S, Moresco A, Ignat AD, Newbury-Ecob R, Banneau G, Patat O, Kuerbitz J, Rzucidlo S, Sell SS, Gordon P, Schuhmann S, Reis A, Halleb Y, Stoeva R, Keren B, Al Masseri Z, Tümer Z, Hammer-Hansen S, Krüger Sølyst S, Steigerwald CG, Abreu NJ, Faust H, Müller-Nedebock A, Tran Mau-Them F, Sticht H, Zweier C. Schmid CM, et al. Among authors: almeida pm. Eur J Hum Genet. 2024 Dec 12. doi: 10.1038/s41431-024-01760-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39668183
Protective effect of kavain in meristematic cells of Allium cepa L.
Vale Junior EPD, Ferreira MVR, Fernandes BCS, Silva TTD, Martins FA, Almeida PM. Vale Junior EPD, et al. Among authors: almeida pm. An Acad Bras Cienc. 2022 Jun 13;94(2):e20200520. doi: 10.1590/0001-3765202220200520. eCollection 2022. An Acad Bras Cienc. 2022. PMID: 35703688 Free article.
Correction: Surgeons' perspectives on artificial intelligence to support clinical decision-making in trauma and emergency contexts: results from an international survey.
Cobianchi L, Piccolo D, Dal Mas F, Agnoletti V, Ansaloni L, Balch J, Biffl W, Butturini G, Catena F, Coccolini F, Denicolai S, De Simone B, Frigerio I, Fugazzola P, Marseglia G, Marseglia GR, Martellucci J, Modenese M, Previtali P, Ruta F, Venturi A, Kaafarani HM, Loftus TJ; Team Dynamics Study Group. Cobianchi L, et al. World J Emerg Surg. 2023 Mar 23;18(1):22. doi: 10.1186/s13017-023-00493-9. World J Emerg Surg. 2023. PMID: 36959605 Free PMC article. No abstract available.
Antioxidant and in vitro cytogenotoxic properties of Amburana cearensis (Allemão) A.C.Sm. leaf extract.
Araujo JRDS, de Barros Arcoverde JV, de Farias Silva MG, Barros de Santana ER, da Silva PA, de Sousa S, Araujo, Santos N, de Almeida PM, de Andrade Lima CS, Benko-Iseppon AM, Aracati Padilha RJS, Alves M, Brasileiro-Vidal AC. Araujo JRDS, et al. Among authors: de almeida pm. Drug Chem Toxicol. 2023 Jan;46(1):104-112. doi: 10.1080/01480545.2021.2011313. Epub 2021 Dec 14. Drug Chem Toxicol. 2023. PMID: 34906022
Drivers of human-wildlife impact events involving mammals in Southeastern Brazil.
Hilário RR, Carvalho WD, Gheler-Costa C, Rosalino LMC, Marques TA, Adania CH, Paulino JS, Almeida PM, Mustin K. Hilário RR, et al. Among authors: almeida pm. Sci Total Environ. 2021 Nov 10;794:148600. doi: 10.1016/j.scitotenv.2021.148600. Epub 2021 Jun 24. Sci Total Environ. 2021. PMID: 34198085
46 results