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scopus(4)
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
ArticleAbstract: Purpose: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disoPalabras claves:Autores:Alders M., Allen N.M., Arold S.T., Banka S., Banu S.H., Baptista J., Barakat T.S., Barge-Schaapveld D.Q.C.M., Baud R., Braddock S.R., Cardona-Londoño K.J., Chinn I.K., Crunk A., de Vries B.B.A., Deardorff M.A., Efthymiou S., Elloumi H.Z., Elting M.W., Galehdari H., Garza-Flores A., Gilissen C., Guerrini R., Guzmán-Vega F.J., Haghshenas S., Hamm J.A., Harrison V., Houlden H., Huang S., Jackson A., Järvelä I., Jewett T., Kehoe C.M., Keller-Ramey J., Kerkhof J., Kievit A., Klemp K.C., Koboldt D.C., Koning S., Lanko K., Lauronen L., Leal S.M., Lees M., Lin X., Luis Alberto Pedroza, Lupski J.R., Lynch S.A., Määttä T., Maroofian R., Mazaheri N., McBride K.L., McConkey H., McGlothlin J., Merritt J.L., Mirzaa G.M., Mohammed S., Monaghan K.G., Montomoli M., Mosher T.M., Pan Z., Pang L., Pastore M.T., Peeters-Scholte C.M.P.C.D., Peña-Guerra K.A., Peng J., Person R.E., Pfundt R., Polstra A.M., Putnam A.M., Quindipan C., Ramakrishnan R., Reich A., Robinson H.K., Rosso G., Ruivenkamp C.A.L., Ruzhnikov M.R.Z., Sadikovic B., Scheck J., Schenck L., Schrauwen I., Sisodiya S.M., Sun A., Thies J., Timms A.E., Turnpenny P.D., van Bever Y., van Gijn M.E., van Paassen B.W., van Slegtenhorst M., Vansenne F., Vetro A., Walsh L., Wang X., Weerts M.J.A., Willemsen M., Yana Lara-Taranchenko, Yang L., Zaman M.Fuentes:scopusFunctional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue
ArticleAbstract: PURPOSE Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer pbkp_redisposPalabras claves:Autores:Alharbi M., Aronson M., Bernstein M., Bouffet E., Bowers D.C., Campbell B.B., Carroll S., Cole K.A., Constantini S., Crooks B., Damme A.V., Durno C., Dvir R., Edwards M., Farah R., Foulkes W.D., Gallinger S., George B., Hijiya N., Laetsch T.W., Lanni S., Larouche V., Lee Y.Y., Lindhorst S., Luis Alberto Pedroza, Luiten R.C., Magimairajan V., Malkin D., Mandel A., Mason G., Mason W., Mordechai O., Mushtaq N., Nicholas G., Oren M., Palma L., Panigrahi G.B., Pearson C.E., Ramdas J., Samuel D., Schneider K.W., Seeley A., Semotiuk K., Shamvil A., Shuen A.Y., Sumerauer D., Tabori U., Toledano H., Tomboc P., Wierman M.E., Yu L., Zapotocky M., Zhang C., Zhukova N.Fuentes:scopusHigh-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: Four novel mutations found in X-linked chronic granulomatous disease
ArticleAbstract: Implementing precise techniques in routine diagnosis of chronic granulomatous disease (CGD), which ePalabras claves:Autores:Arango J.C., Bustamante J., Buzolin M., Condino-Neto A., Costa-Carvalho B.T., Dantas V.M., de Oliveira-Junior E.B., Frazão J.B., Grumach A.S., Lopez J.A., Luis Alberto Pedroza, Prando C., Rehder J., Roxo-Junior P.Fuentes:scopusWhole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: A case report
ArticleAbstract: Background: Acute disseminated encephalomyelitis is generally preceded by an infection, and it is usPalabras claves:Acute disseminated encephalomyelitis, ADEM, ADEM-ON, Case report, Familial cold autoinflammatory syndrome, FCAS2, NLRP12, Optic neuritis, Periodic fever syndrome, Whole exome sequencingAutores:Burbano M., Juan Carlos Guerra, Luis Alberto Pedroza, Pablo A. Ledesma, Procel P.Fuentes:scopus