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First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. Rauen KA, et al. Among authors: cordeiro i. Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30908877 Free PMC article.
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Association of migraine-like headaches with Schimke immuno-osseous dysplasia.
Kilic SS, Donmez O, Sloan EA, Elizondo LI, Huang C, André JL, Bogdanovic R, Cockfield S, Cordeiro I, Deschenes G, Fründ S, Kaitila I, Lama G, Lamfers P, Lücke T, Milford DV, Najera L, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Stajic N, Stein A, Taha D, Wand D, Armstrong D, Boerkoel CF. Kilic SS, et al. Among authors: cordeiro i. Am J Med Genet A. 2005 Jun 1;135(2):206-10. doi: 10.1002/ajmg.a.30692. Am J Med Genet A. 2005. PMID: 15884045
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Among authors: cordeiro i. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472
Genetic services in Portugal.
Santos H, Cordeiro I, Nunes L. Santos H, et al. Among authors: cordeiro i. Eur J Hum Genet. 1997;5 Suppl 2:140-4. Eur J Hum Genet. 1997. PMID: 9450212 No abstract available.
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
Almeida MR, Campos-Xavier AB, Medeira A, Cordeiro I, Sousa AB, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino JP, Correia A, Santos HG. Almeida MR, et al. Among authors: cordeiro i. Clin Genet. 2009 Feb;75(2):150-6. doi: 10.1111/j.1399-0004.2008.01123.x. Clin Genet. 2009. PMID: 19215249
125 results