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Page 1
Rubinstein-Taybi syndrome in diverse populations.
Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P. Tekendo-Ngongang C, et al. Among authors: badilla porras r. Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985117
Williams-Beuren syndrome in diverse populations.
Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M. Kruszka P, et al. Among authors: badilla porras r. Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672. Am J Med Genet A. 2018. PMID: 29681090 Free PMC article.
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
Penon-Portmann M, Lotz-Esquivel S, Chavez Carrera A, Jiménez-Hernández M, Alvarado-Romero D, Segura-Cordero S, Rimolo-Donadio F, Hevia-Urrutia F, Mora-Guevara A, Saborío-Rocafort M, Jiménez-Arguedas G, Badilla-Porras R. Penon-Portmann M, et al. Among authors: badilla porras r. JIMD Rep. 2020 Feb 6;52(1):55-62. doi: 10.1002/jmd2.12098. eCollection 2020 Mar. JIMD Rep. 2020. PMID: 32154060 Free PMC article.
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
Penon-Portmann M, Westbury SK, Li L, Pluthero FG, Liu RJY, Yao HHY, Geng RSQ, Warner N, Muise AM, Lotz-Esquivel S, Howell-Ramirez M, Saborío-Chacon P, Fernández-Rojas S, Saborio-Rocafort M, Jiménez-Hernández M, Wang-Zuniga C, Cartín-Sánchez W, Shieh JT, Badilla-Porras R, Kahr WHA. Penon-Portmann M, et al. Among authors: badilla porras r. J Thromb Haemost. 2022 Jul;20(7):1712-1719. doi: 10.1111/jth.15711. Epub 2022 Apr 12. J Thromb Haemost. 2022. PMID: 35325493 Free article.
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
Poloni S, Dos Santos BB, Chiesa A, Specola N, Pereyra M, Saborío-Rocafort M, Salazar MF, Leal-Witt MJ, Castro G, Peñaloza F, Wong SP, Porras RB, Paranza LO, Sanabria MC, Amieva MV, Morales M, Naranjo ARC, Mahfoud A, Colmenares AR, Lemes A, Sotillo-Lindo JF, Perez C, Rey LM, Torriente GMZ, Refosco LF, Schwartz IVD, Cornejo V. Poloni S, et al. Among authors: porras rb. Nutrients. 2021 Jul 27;13(8):2566. doi: 10.3390/nu13082566. Nutrients. 2021. PMID: 34444728 Free PMC article.
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Stavropoulos DJ, et al. Among authors: porras rb. NPJ Genom Med. 2016 Jan 13;1:15012-. doi: 10.1038/npjgenmed.2015.12. NPJ Genom Med. 2016. PMID: 28567303 Free PMC article.
Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma and primary hyperparathyroidism: First report in literature and in the Costa Rican population of the c.1224_1225insGTCC pathogenic variant.
Molina-Céspedes P, Ruiz-Golcher EJ, Badilla-Barboza O, Sedó-Mejía G, Barboza-Rodríguez L, Badilla-Porras R. Molina-Céspedes P, et al. Among authors: badilla porras r. Clin Case Rep. 2023 Mar 8;11(3):e7041. doi: 10.1002/ccr3.7041. eCollection 2023 Mar. Clin Case Rep. 2023. PMID: 36911651 Free PMC article.
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
Mendoza-Londono R, Chitayat D, Kahr WH, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras R, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L. Mendoza-Londono R, et al. Among authors: badilla porras r. Am J Med Genet A. 2012 Jun;158A(6):1344-54. doi: 10.1002/ajmg.a.35339. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581468