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Page 1
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.
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.
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
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis.
Vecchio D, Macchiaiolo M, Gonfiantini MV, Panfili FM, Petrizzelli F, Liorni N, Cortellessa F, Sinibaldi L, Rana I, Agolini E, Cocciadiferro D, Colantoni N, Semeraro M, Rizzo C, Deodati A, Cotugno N, Caggiano S, Verrillo E, Nucci CG, Alkan S, Saraiva JM, De Sá J, Almeida PM, Krishna J, Buonuomo PS, Martinelli D, Dionisi Vici C, Caputo V, Bartuli A, Novelli A, Mazza T. Vecchio D, et al. Among authors: almeida pm. Front Genet. 2024 Dec 11;15:1477940. doi: 10.3389/fgene.2024.1477940. eCollection 2024. Front Genet. 2024. PMID: 39722796 Free PMC article.
Organizing pneumonia and COVID-19: A report of two cases.
Simões JP, Alves Ferreira AR, Almeida PM, Trigueiros F, Braz A, Inácio JR, Medeiros FC, Braz S, Pais de Lacerda A. Simões JP, et al. Among authors: almeida pm. Respir Med Case Rep. 2021;32:101359. doi: 10.1016/j.rmcr.2021.101359. Epub 2021 Jan 31. Respir Med Case Rep. 2021. PMID: 33552895 Free PMC article.
Characteristics of women diagnosed with mpox infection compared to men: A case series from Brazil.
Coutinho C, Secco Torres Silva M, Torres TS, Peixoto E, Avelar Magalhães M, Wagner Cardoso S, Nazário G, Mendonça M, Menezes M, Almeida PM, Dias de Brito de Carvalho PR, Bia Bedin S, Almeida AM, Carvalho S, Gonçalves Veloso V, Grinsztejn B, Velasque L; INI-Fiocruz Mpox Study Group. Coutinho C, et al. Among authors: almeida pm. Travel Med Infect Dis. 2023 Nov-Dec;56:102663. doi: 10.1016/j.tmaid.2023.102663. Epub 2023 Nov 8. Travel Med Infect Dis. 2023. PMID: 37949306 Free article.
Phytochemical characterization, isolation, antioxidant and cytogenotoxic activity of leaves of Heliotropium elongatum (Lehm) I.M. Johnst.
Paula Sales P, Das Dores Alves de Oliveira M, Figueiredo Watanabe JM, da Silva Barbosa AP, da Mata BCA, de Jesus E Silva Viana M, Dalia Rego Medeiros PC, Carvalho Souza D, Do Nascimento Silva J, Lima NM, da Costa Júnior JS, Alline Martins F, E Silva Filho FA, de Almeida PM. Paula Sales P, et al. Among authors: de almeida pm. J Toxicol Environ Health A. 2023 Dec 2;86(23):871-897. doi: 10.1080/15287394.2023.2254815. Epub 2023 Sep 8. J Toxicol Environ Health A. 2023. PMID: 37682045
46 results