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scopus(13)
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
ArticleAbstract: Background: An increasing number of NFKB1 variants are being identified in patients with heterogeneoPalabras claves:Autosomal dominant, common variable immunodeficiency, NF-κB1-related phenotype, NFKB1 mutation, NFKB1 variant, reduced penetranceAutores:Abolhassani H., Adhya Z., Aghamohammadi A., Alachkar H., Allen H.L., Allende L.M., Alosaimi M., Alsina L., Ameratunga R., Anantharachagan A., Antrobus R., Arumugakani G., Ashford S., Astle W.J., Atschekzei F., Attwood A., Bacchelli C., Bakhtiar S., Barış S., Bartsch O., Batista J., Baxendale H.E., Bethune C., Bibi S., Bleda M., Boardman B., Booth C., Boztug K., Bradley J.R., Brauer N., Breen G., Brown M., Browning M.J., Brownlie M., Buckland M.S., Bulashevska A., Burns S.O., Burren O.S., Camacho-Ordonez N., Carss K., Chambers J., Chandra A., Chou J., Christiansen M., Cook M., Cunningham-Rundles C., de Vries E., Deyà-Martínez A., Dos Santos Vilela M.M., Fischer U., Fliegauf M., Frede N., Freeman A.F., Geha R., Gonzalez-Granado L.I., Grimbacher B., Hammarström L., Hautala T., Helminen M., Hirschmugl T., Holzinger D., Ip W., Kinnunen M., Klammer N., Klein C., Kobbe R., Kuijpers T.W., Kuismin O., Kuzmenko N., Lorenzini T., Lougaris V., Luis Alberto Pedroza, Martínez-Gallo M., Neves J.F., Niehues T., Patel N.C., Piquer-Gibert M., Plebani A., Proietti M., Rae W., Roifman C.M., Schejter Y.D., Schmidt R.E., Schröder C., Seidl M., Seppänen M.R.J., Shadur B., Shcherbina A., Slade C.A., Stepensky P., Svec P., Syrjänen J., Thaventhiran J.E.D., Tuijnenburg P., van der Flier M., van der Meer J.W.M., Varjosalo M., Warnatz K., Weintraub L., Zakharova V.Fuentes:scopusDelineating 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:scopusGenetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
ArticleAbstract: The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH), yet concern exiPalabras claves:Autores:Abhyankar H.A., Al-Herz W., Aldave-Becerra J.C., Allen C.E., Bashir D.A., Cao T.N., Cecilia Poli M., Chamdin A., Chinn I.K., Coban-Akdemir Z.H., Diaz M.I., Eckstein O.S., Forbes L.R., Gibbs R.A., Goldberg B.R., Goldman J.R., Heslop H.E., Hong D.N., Jhangiani S.N., Krance R.A., Luis Alberto Pedroza, Lupski J.R., Mace E.M., Martinez C.A., McClain K.L., McGhee S.A., Muzny D.M., Nguyen T.C., Nicholas S.K., Orange J.S., Peckham-Gregory E.C., Stray-Pedersen A., Vogel T.P.Fuentes:scopusFirst case of CD40LG deficiency in Ecuador, diagnosed after whole exome sequencing in a patient with Severe Cutaneous Histoplasmosis
ArticleAbstract: Severe infections with Histoplasma capsulatumare commonly observed in patient with secondary immunodPalabras claves:CD40LG, Histoplasmosis, Hyper-IgM syndrome, Primary immunodeficiency diseases, Whole exome sequencingAutores:Akdemir Z.C., Chinn I.K., Jhangiani S.N., Luis Alberto Pedroza, Lupski J.R., Muñoz G., Nina Guerrero, Orange J.S., Roque Macias, Stray-Pedersen A., Tafur C., Watkin L.B.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:scopusHuman leucocytes response to viable, extended freeze-drying or heat-killed Mycobacterium bovis bacillus Calmette-Guérin
ArticleAbstract: We investigated the effects of viable, extended freeze-drying (EFD) or heat-killed (HK) MycobacteriuPalabras claves:Autores:Aragão-Filho W.C., Barbosa S.M., Barillas S.G., Condino-Neto A., Luis Alberto Pedroza, Moreira J.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:scopusPrimary allogeneic mitochondrial mix (PAMM) transfer/transplant by MitoCeption to address damage in PBMCs caused by ultraviolet radiation
ArticleAbstract: Background: Artificial Mitochondrial Transfer or Transplant (AMT/T) can be used to reduce the stressPalabras claves:Artificial mitochondria transfer / transplant (AMTT), Cell repair, Cellular damage, MitoCeption, Mitochondria, P53, Primary allogeneic mitochondrial mix (PAMM), Primary immune cells, Ultraviolet radiation (UVR)Autores:Andrés Caicedo, D. A. Barba Carrera, Francesca Velarde, Francisco J. Cabrera Aulestia., Gabriela Peña, Jorgensen C., Khoury M., Lina Soto, Luis Alberto Pedroza, Mayra Ortega, Parra E., Stephany GallardoFuentes:scopusPrimary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
ArticleAbstract: Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous diPalabras claves:copy number variants, Primary immunodeficiency disease, whole-exome sequencingAutores:Abbott J., Abhyankar H.A., Abrahamsen T.G., Aiuti A., Aldave-Becerra J.C., Allen C.E., Artac H., Atik M.M., Aukrust P., Bayer D.K., Bayram Y., Bechensteen A.G., Beck C.R., Belmont J.W., Bertuch A.A., Bezrodnik L., Boerwinkle E., Boone P.M., Burstedt M., Caldirola M.S., Caldwell J.W., Cancrini C., Canter D.L., Cao T.N., Chan A.Y., Chinen J., Chinn I.K., Coban-Akdemir Z.H., Davis C.M., Dybedal I., Ehlayel M.S., Eldomery M.K., Eng C.M., Erichsen H.C., Espinosa Rosales F.J., Fevang B., Flatø B., Forbes L.R., Franco J.L., Gambin T., Gedde-Dahl T., Gibbs R.A., Gu S., Hanson I.C., Heimdal K.R., Hjorth-Hansen H., Holmberg E., Hu J., Issekutz A.C., Issekutz T.B., Jhangiani S.N., Jolles S., Jørgensen S.F., Karaca E., Kulseth M.A., Lugo Reyes S.O., Luis Alberto Pedroza, Lupski J.R., Lyle R., Mace E.M., Muzny D.M., Nicholas S.K., Nina Denisse Guerrero-Cursaru, Nordøy I., Noroski L.M., Orange J.S., Osnes L.T.N., Poli C.M., Prescott T.E., Rider N.L., Rustad C.F., Rødningen O.K., Samarakoon P., Seeborg F.O., Shearer W.T., Sheng Y., Skogen V., Smith E.A., Sorte H.S., Stray-Pedersen A., Tjønnfjord G.E., Trujillo Vargas C.M., Vece T.J., Walkiewicz M., West C., Wiszniewski W., Wong L.J., Wright N., Yang Y., Yesil G., Yuan B., Zhang V.W., Øverland T.Fuentes:scopus