Browsing by Author "Aracena Álvarez, Mariana Inés"
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- ItemA deletion of more than 800 kb is the most recurrent mutation in chilean patients with SHOX gene defects(2015) Poggi, Helena; Vera, A.; Avalos, C.; Lagos, M.; Mellado Sagredo, Cecilia; Aracena Álvarez, Mariana Inés; Aravena, T.; García Bruce, Hernán; Godoy Cortés, Claudia Loreto; Cattani Ortega, Andreina; Reyes, L.; Lacourt, P.; Rumié Carmi, Hana K.; Mericq, V.; Arriaza, M.; Martinez-Aguayo, A.
- ItemCo-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant(2018) Rodríguez, Fernando; Vallejos, Carla; Bolanos García, Víctor M.; Ponce, Diana; Unanue, Nancy; Garay Greve, Francisco Javier; Cassorla, Fernando; Aracena Álvarez, Mariana Inés
- ItemConsenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre las anomalías congénitas de mal pronóstico vital (ACMPV)(2016) Pardo Vargas, Rosa, A.; Aracena Álvarez, Mariana Inés; Aravena, Teresa; Del Cares, Carolina; Cortés, Fanny; Faundes, Víctor; Mellado Sagredo, Cecilia; Passalacqua, Cristóbal; Sanza, Patricia; Castillo Taucher, Silvia
- ItemDandy-walker malformation with postaxial polydactly : a new case of Pierquin syndrome(2013) Passalacqua, Cristóbal A.; Villegas, Victor P.; Aracena Álvarez, Mariana Inés; Mellado Sagredo, Cecilia
- ItemMutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5(2014) McMillin, Margaret J.; Beck, Anita E.; Chong, Jessica X.; Shively, Kathryn M.; Buckingham, Kati J.; Gildersleeve, Heidi I.S.; Aracena Álvarez, Mariana Inés; Aylsworth, Arthur S.; Bitoun, Pierre; Carey, John C.
- ItemNoonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report(2020) Rodríguez, F. A.; Castellón, L.; Moreno, R.; Paez, E.; Aracena Álvarez, Mariana Inés
- ItemOverlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies(2017) Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A.; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B.; Destree, Anne; Aracena Álvarez, Mariana Inés
- ItemPIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution(2016) Mirzaa, G.; Timms, A. E.; Conti, V.; Boyle, E. A.; Girisha, K. M.; Martin, B.; Kircher, M.; Olds, C.; Juusola, J.; Inestrosa Cantín, Nibaldo; Aracena Álvarez, Mariana Inés; Collins, S.; Park, K.; Carter, M.; Glass, I.; Krogeloh-Mann, I.; Chitayat, D.; Parikh, A. S.; Bradshaw, R.; Torti, E.; Braddock, S.; Burke, L.; Ghedia, S.; Stephan, M.; Stewart, F.; Prasad, C.; Napier, M.; Saitta, S.; Straussberg, R.; Gabbett, M.; O'Connor, B. C.; Keegan, C. E.; Yin, L. J.; Lai, A. H. M.; Martin, N.; McKinnon, M.; Addor, M. C.; Boccuto, L.; Schwartz, C. E.; Lanoel, A.; Conway, R. L.; Devriendt, K.; Tatton-Brown, K.; Pierpont, M. E.; Painter, M.; Worgan, L.; Reggin, J.; Hennekam, R.; Tsuchiya, K.; Pritchard, C. C.; Gripp, K. W.; Cordisco, M.; Van Esch, H.; Garavelli, L.; Curry, C.; Goriely, A.; Kayserilli, H.; Shendure, J.; Graham, J.; Guerrini, R.; Dobyns, W. B.
- ItemRAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis(2019) Rodriguez, F.; Ponce, D.; Berward, F.J.; Lopetegui, B.; Cassorla, F.; Aracena Álvarez, Mariana Inés