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Year Number of Results
2006 1
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2009 1
2010 3
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2013 4
2014 2
2015 3
2016 3
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2019 4
2020 9
2021 7
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Page 1
50 years of Robinow syndrome.
Mazzeu JF, Brunner HG. Mazzeu JF, et al. Am J Med Genet A. 2020 Sep;182(9):2005-2007. doi: 10.1002/ajmg.a.61756. Epub 2020 Jul 21. Am J Med Genet A. 2020. PMID: 32691531 No abstract available.
Novel risk loci for COVID-19 hospitalization among admixed American populations.
Diz-de Almeida S, Cruz R, Luchessi AD, Lorenzo-Salazar JM, de Heredia ML, Quintela I, González-Montelongo R, Nogueira Silbiger V, Porras MS, Tenorio Castaño JA, Nevado J, Aguado JM, Aguilar C, Aguilera-Albesa S, Almadana V, Almoguera B, Alvarez N, Andreu-Bernabeu Á, Arana-Arri E, Arango C, Arranz MJ, Artiga MJ, Baptista-Rosas RC, Barreda-Sánchez M, Belhassen-Garcia M, Bezerra JF, Bezerra MAC, Boix-Palop L, Brion M, Brugada R, Bustos M, Calderón EJ, Carbonell C, Castano L, Castelao JE, Conde-Vicente R, Cordero-Lorenzana ML, Cortes-Sanchez JL, Corton M, Darnaude MT, De Martino-Rodríguez A, Del Campo-Pérez V, de Bustamante AD, Domínguez-Garrido E, Eirós R, Fariñas MC, Fernandez-Nestosa MJ, Fernández-Robelo U, Fernández-Rodríguez A, Fernández-Villa T, Gago-Dominguez M, Gil-Fournier B, Gómez-Arrue J, Álvarez BG, Bernaldo de Quirós FG, González-Neira A, González-Peñas J, Gutiérrez-Bautista JF, Herrero MJ, Herrero-Gonzalez A, Jimenez-Sousa MA, Lattig MC, Borja AL, Lopez-Rodriguez R, Mancebo E, Martín-López C, Martín V, Martinez-Nieto O, Martinez-Lopez I, Martinez-Resendez MF, Martinez-Perez A, Mazzeu JF, Macías EM, Minguez P, Cuerda VM, Oliveira SF, Ortega-Paino E, Parellada M, Pa… See abstract for full author list ➔ Diz-de Almeida S, et al. Among authors: mazzeu jf. Elife. 2024 Oct 3;13:RP93666. doi: 10.7554/eLife.93666. Elife. 2024. PMID: 39361370 Free PMC article.
Novel genes and sex differences in COVID-19 severity.
Cruz R, Diz-de Almeida S, López de Heredia M, Quintela I, Ceballos FC, Pita G, Lorenzo-Salazar JM, González-Montelongo R, Gago-Domínguez M, Sevilla Porras M, Tenorio Castaño JA, Nevado J, Aguado JM, Aguilar C, Aguilera-Albesa S, Almadana V, Almoguera B, Alvarez N, Andreu-Bernabeu Á, Arana-Arri E, Arango C, Arranz MJ, Artiga MJ, Baptista-Rosas RC, Barreda-Sánchez M, Belhassen-Garcia M, Bezerra JF, Bezerra MAC, Boix-Palop L, Brion M, Brugada R, Bustos M, Calderón EJ, Carbonell C, Castano L, Castelao JE, Conde-Vicente R, Cordero-Lorenzana ML, Cortes-Sanchez JL, Corton M, Darnaude MT, De Martino-Rodríguez A, Del Campo-Pérez V, Diaz de Bustamante A, Domínguez-Garrido E, Luchessi AD, Eiros R, Estigarribia Sanabria GM, Carmen Fariñas M, Fernández-Robelo U, Fernández-Rodríguez A, Fernández-Villa T, Gil-Fournier B, Gómez-Arrue J, González Álvarez B, Gonzalez Bernaldo de Quirós F, González-Peñas J, Gutiérrez-Bautista JF, Herrero MJ, Herrero-Gonzalez A, Jimenez-Sousa MA, Lattig MC, Liger Borja A, Lopez-Rodriguez R, Mancebo E, Martín-López C, Martín V, Martinez-Nieto O, Martinez-Lopez I, Martinez-Resendez MF, Martinez-Perez A, Mazzeu JF, Merayo Macías E, Minguez P, Moreno Cuerda V, Sil… See abstract for full author list ➔ Cruz R, et al. Among authors: mazzeu jf. Hum Mol Genet. 2022 Nov 10;31(22):3789-3806. doi: 10.1093/hmg/ddac132. Hum Mol Genet. 2022. PMID: 35708486 Free PMC article.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB. Zhang C, et al. Among authors: mazzeu jf. HGG Adv. 2021 Dec 3;3(1):100074. doi: 10.1016/j.xhgg.2021.100074. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047859 Free PMC article.
Syndromes with gingival fibromatosis: A systematic review.
Costa CRR, Braz SV, de Toledo IP, Martelli-Júnior H, Mazzeu JF, Guerra ENS, Coletta RD, Acevedo AC. Costa CRR, et al. Among authors: mazzeu jf. Oral Dis. 2021 May;27(4):881-893. doi: 10.1111/odi.13369. Epub 2020 May 25. Oral Dis. 2021. PMID: 32335995 Review.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Lima AR, et al. Among authors: mazzeu jf. Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35344616 Free PMC article.
Differential diagnosis between multiple sclerosis and leukodystrophies - A scoping review.
Chaer LER, de Mendonça JM, Del Negro MC, Titze-de-Almeida R, Nogueira NPB, Provetti PM, de Paula Brandão PR, de Carvalho Bispo DD, Ferreira GB, Faber I, Cavalcante TB, Adoni T, Mazzeu JF, von Glehn F. Chaer LER, et al. Among authors: mazzeu jf. J Neurol Sci. 2024 Apr 15;459:122969. doi: 10.1016/j.jns.2024.122969. Epub 2024 Mar 16. J Neurol Sci. 2024. PMID: 38507990
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.
Resende KKM, Riou MC, Yamaguti PM, Fournier B, Rondeau S, Pacot L, Berdal A, Felizardo R, Mazzeu JF, Cormier-Daire V, Gaucher C, Acevedo AC, de La Dure-Molla M. Resende KKM, et al. Among authors: mazzeu jf. Eur J Hum Genet. 2023 Nov;31(11):1337-1341. doi: 10.1038/s41431-023-01440-7. Epub 2023 Sep 6. Eur J Hum Genet. 2023. PMID: 37670079 Free PMC article.
Genetic and genomics in congenital heart disease: a clinical review.
Saliba A, Figueiredo ACV, Baroneza JE, Afiune JY, Pic-Taylor A, Oliveira SF, Mazzeu JF. Saliba A, et al. Among authors: mazzeu jf. J Pediatr (Rio J). 2020 May-Jun;96(3):279-288. doi: 10.1016/j.jped.2019.07.004. Epub 2019 Aug 14. J Pediatr (Rio J). 2020. PMID: 31421069 Free PMC article. Review.
60 results