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Page 1
Postpartum Treatment With Immunoglobulin Does Not Prevent Relapses of Multiple Sclerosis in the Mother.
Fragoso YD, Adoni T, Alves-Leon SV, Azambuja ND Jr, Barreira AA, Brooks JB, Carneiro DS, Carvalho MJ, Claudino R, Comini-Frota ER, Domingues RB, Finkelsztejn A, Gama PD, Giacomo MC, Gomes S, Goncalves MV, Grzesiuk AK, Kaimen-Maciel DR, Mendes MF, Morales NM, Morales RR, Muniz A, Papais-Alvarenga RM, Parolin MK, Ribeiro SB, Ruocco HH, Salgado PR, Siquineli F, Souza DB, Tosta ED, Vasconcelos CC, Almeida SM, Bernardes DF, Castro SN, Gama RA, Gomide FA, Finkelzstejn J, Lopes J, Lourenco FH, Lourenco GA, Oliveira CL, Oliveira FT, Oliveira LF, Patroclo CB, Pereira WL, Safanelli J, Sahdo AM, Saldanha PC, Shinzato YF, Souza JM, Zani DE. Fragoso YD, et al. Among authors: giacomo mc. Health Care Women Int. 2015;36(10):1072-80. doi: 10.1080/07399332.2014.948627. Epub 2014 Oct 30. Health Care Women Int. 2015. PMID: 25187102
Multiple sclerosis in South America: month of birth in different latitudes does not seem to interfere with the prevalence or progression of the disease.
Fragoso YD, Adoni T, Almeida SM, Alves-Leon SV, Arruda WO, Barbagelata-Aguero F, Brooks JB, Carra A, Claudino R, Comini-Frota ER, Correa EC, Damasceno A, Damasceno BP, Díaz EC, Elliff DG, Fiore AP, Franco CM, Giacomo MC, Gomes S, Gonçalves MV, Grzesiuk AK, Inojosa JL, Kaimen-Maciel DR, Lin K, Lopes J, Lourenço GA, Martínez AD, Melcon MO, Morales Nde M, Morales RR, Moreira M, Moreira SV, Oliveira CL, Oliveira FT, Ribeiro JB, Ribeiro SB, Rodríguez CC, Russo L, Safanelli J, Shearer KD, Siquineli F, Vizcarra-Escobar D. Fragoso YD, et al. Among authors: giacomo mc. Arq Neuropsiquiatr. 2013 Sep;71(9A):573-9. doi: 10.1590/0004-282X20130098. Arq Neuropsiquiatr. 2013. PMID: 24141434 Free article.
The real-life experience with cardiovascular complications in the first dose of fingolimod for multiple sclerosis.
Fragoso YD, Arruda CC, Arruda WO, Brooks JB, Damasceno A, Damasceno CA, Finkelsztejn A, Finkelsztejn J, Gama PD, Giacomo MC, Gomes S, Goncalves MV, Matta AP, de Morais MM, Oliveira EM, Ribeiro Y, Sato HK, Tauil CB. Fragoso YD, et al. Among authors: giacomo mc. Arq Neuropsiquiatr. 2014 Sep;72(9):712-4. doi: 10.1590/0004-282x20140102. Arq Neuropsiquiatr. 2014. PMID: 25252236 Free article.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Among authors: di giacomo mc. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: di giacomo mc. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Kerkhof J, Squeo GM, McConkey H, Levy MA, Piemontese MR, Castori M, Accadia M, Biamino E, Della Monica M, Di Giacomo MC, Gervasini C, Maitz S, Melis D, Milani D, Piccione M, Prontera P, Selicorni A, Sadikovic B, Merla G. Kerkhof J, et al. Among authors: di giacomo mc. Genet Med. 2022 Jan;24(1):51-60. doi: 10.1016/j.gim.2021.08.007. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906459 Free article.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: di giacomo mc. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002
Age and sex prevalence estimate of Joubert syndrome in Italy.
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.
26 results