000063161 001__ 63161
000063161 005__ 20190709135524.0
000063161 0247_ $$2doi$$a10.1038/s41598-017-11620-3
000063161 0248_ $$2sideral$$a101873
000063161 037__ $$aART-2017-101873
000063161 041__ $$aeng
000063161 100__ $$aVidal, S.
000063161 245__ $$aThe utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
000063161 260__ $$c2017
000063161 5060_ $$aAccess copy available to the general public$$fUnrestricted
000063161 5203_ $$aRett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT-like patients using different techniques based on this technology. We studied 1577 patients with RTT-like clinical diagnoses and reviewed patients who were previously studied and thought to have RTT genes by Sanger sequencing. Genetically, 477 of 1577 patients with a RTT-like suspicion have been diagnosed. Positive results were found in 30% by Sanger sequencing, 23% with a custom panel, 24% with a commercial panel and 32% with whole exome sequencing. A genetic study using NGS allows the study of a larger number of genes associated with RTT-like symptoms simultaneously, providing genetic study of a wider group of patients as well as significantly reducing the response time and cost of the study.
000063161 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI15-01013
000063161 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000063161 590__ $$a4.122$$b2017
000063161 591__ $$aMULTIDISCIPLINARY SCIENCES$$b12 / 64 = 0.188$$c2017$$dQ1$$eT1
000063161 592__ $$a1.533$$b2017
000063161 593__ $$aMultidisciplinary$$c2017$$dQ1
000063161 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000063161 700__ $$aBrandi, N.
000063161 700__ $$aPacheco, P.
000063161 700__ $$aGerotina, E.
000063161 700__ $$aBlasco, L.
000063161 700__ $$aTrotta, J.-R.
000063161 700__ $$aDerdak, S.
000063161 700__ $$aDel Mar O''Callaghan, M.
000063161 700__ $$aGarcia-Cazorla, À.
000063161 700__ $$aPineda, M.
000063161 700__ $$aArmstrong, J.
000063161 700__ $$aAguirre, F.J.
000063161 700__ $$aAleu, M.
000063161 700__ $$aAlonso, X.
000063161 700__ $$aAlsius, M.
000063161 700__ $$aInmaculada Amorós, M.
000063161 700__ $$aAntiñolo, G.
000063161 700__ $$aAquino, L.
000063161 700__ $$aArellano, C.
000063161 700__ $$aArriola, G.
000063161 700__ $$aArteaga, R.
000063161 700__ $$aBaena, N.
000063161 700__ $$aBarcos, M.
000063161 700__ $$aBelzunces, N.
000063161 700__ $$aBoronat, S.
000063161 700__ $$aCamacho, T.
000063161 700__ $$aCampistol, J.
000063161 700__ $$aDel Campo, M.
000063161 700__ $$aCampo, A.
000063161 700__ $$aCancho, R.
000063161 700__ $$aCandau, R.
000063161 700__ $$aCanós, I.
000063161 700__ $$aCarrascosa, M.D.C.
000063161 700__ $$aCarratalá-Marco, F.
000063161 700__ $$aCasano, J.
000063161 700__ $$aCastro, P.
000063161 700__ $$aCobo, A.
000063161 700__ $$aColomer, J.
000063161 700__ $$aConejo, D.
000063161 700__ $$aCorrales, M.J.
000063161 700__ $$aCortés, R.
000063161 700__ $$aCruz, G.
000063161 700__ $$aCsányi, G.
000063161 700__ $$aDe Santos, M.T.
000063161 700__ $$aDe Toledo, M.
000063161 700__ $$aToro, M.D.
000063161 700__ $$aDomingo, R.
000063161 700__ $$aDuat, A.
000063161 700__ $$aDuque, R.
000063161 700__ $$aEsparza, A.M.
000063161 700__ $$aFernández, R.
000063161 700__ $$aFons, M.C.
000063161 700__ $$aFontalba, A.
000063161 700__ $$aGalán, E.
000063161 700__ $$aGallano, P.
000063161 700__ $$aGamundi, M.J.
000063161 700__ $$aGarcía, P.L.
000063161 700__ $$aGarcía, M.D.M.
000063161 700__ $$aGarcía-Barcina, M.
000063161 700__ $$aGarcia-Catalan, M.J.
000063161 700__ $$aGarcía-Miñaur, S.
000063161 700__ $$aGarcia-Peñas, J.J.
000063161 700__ $$aGarcía-Silva, M.T.
000063161 700__ $$aGassio, R.
000063161 700__ $$aGeán, E.
000063161 700__ $$aGil, B.
000063161 700__ $$aGökben, S.
000063161 700__ $$aGonzalez, L.
000063161 700__ $$aGonzalez, V.
000063161 700__ $$aGonzalez, J.
000063161 700__ $$aGonzález, G.
000063161 700__ $$aGuillén, E.
000063161 700__ $$aGuitart, M.
000063161 700__ $$aGuitet, M.
000063161 700__ $$aGutierrez, J.M.
000063161 700__ $$aGutiérrez, E.
000063161 700__ $$aHerranz, J.L.
000063161 700__ $$aIglesias, G.
000063161 700__ $$aKaracic, I.
000063161 700__ $$aLahoz, C.H.
000063161 700__ $$aLao, J.I.
000063161 700__ $$aLapunzina, P.
000063161 700__ $$aLautre-Ecenarro, M.J.
000063161 700__ $$aLluch, M.D.
000063161 700__ $$aLópez, L.
000063161 700__ $$aLópez-Ariztegui, A.
000063161 700__ $$aMacaya, A.
000063161 700__ $$aMarín, R.
000063161 700__ $$aMarquez, C.M.L.
000063161 700__ $$aMartín, E.
000063161 700__ $$aMartínez, B.
000063161 700__ $$aMartínez-Salcedo, E.
000063161 700__ $$aMas, M.J.
000063161 700__ $$aMateo, G.
000063161 700__ $$aMendez, P.
000063161 700__ $$aJimenez, A.M.
000063161 700__ $$aMoreno, S.
000063161 700__ $$aMulas, F.
000063161 700__ $$aNarbona, J.
000063161 700__ $$aNascimento, A.
000063161 700__ $$aNieto, M.
000063161 700__ $$aNunes, T.F.
000063161 700__ $$aNúñez, N.
000063161 700__ $$aObón, M.
000063161 700__ $$aOnsurbe, I.
000063161 700__ $$aOrtez, C.I.
000063161 700__ $$aOrts, E.
000063161 700__ $$aMartinez, F.
000063161 700__ $$aParrilla, R.
000063161 700__ $$aPascual, S.I.
000063161 700__ $$aPatiño, A.
000063161 700__ $$aPérez-Poyato, M.
000063161 700__ $$aPérez-Dueñas, B.
000063161 700__ $$aPóo, P.
000063161 700__ $$aPuche, E.
000063161 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, F.$$uUniversidad de Zaragoza
000063161 700__ $$aRaspall, M.
000063161 700__ $$aRoche, A.
000063161 700__ $$aRoldan, S.
000063161 700__ $$aRosell, J.
000063161 700__ $$aRuiz, C.
000063161 700__ $$aRuiz-Falcó, M.L.
000063161 700__ $$aRussi, M.E.
000063161 700__ $$aSamarra, J.
000063161 700__ $$aAntonio, V.S.
000063161 700__ $$aSanchez, I.
000063161 700__ $$aSanmartin, X.
000063161 700__ $$aSans, A.
000063161 700__ $$aSantacana, A.
000063161 700__ $$aScholl-Bürgi, S.
000063161 700__ $$aSerrano, N.
000063161 700__ $$aSerrano, M.
000063161 700__ $$aMartin-Tamayo, P.
000063161 700__ $$aTendero, A.
000063161 700__ $$aTorrents, J.
000063161 700__ $$aTortosa, D.
000063161 700__ $$aTriviño, E.
000063161 700__ $$aTroncoso, L.
000063161 700__ $$aTurrón, E.
000063161 700__ $$aVázquez, P.
000063161 700__ $$aVázquez, C.
000063161 700__ $$aVelázquez, R.
000063161 700__ $$aVentura, C.
000063161 700__ $$aVerdú, A.
000063161 700__ $$aVernet, A.
000063161 700__ $$aVila, M.T.
000063161 700__ $$aVillar, C.
000063161 7102_ $$11010$$2670$$aUniversidad de Zaragoza$$bDpto. Pediatría Radiol.Med.Fís$$cÁrea Pediatría
000063161 773__ $$g7, 1 (2017), 12288 [11 pp]$$pSci. rep.$$tScientific reports$$x2045-2322
000063161 8564_ $$s1490956$$uhttps://zaguan.unizar.es/record/63161/files/texto_completo.pdf$$yVersión publicada
000063161 8564_ $$s114838$$uhttps://zaguan.unizar.es/record/63161/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000063161 909CO $$ooai:zaguan.unizar.es:63161$$particulos$$pdriver
000063161 951__ $$a2019-07-09-11:59:00
000063161 980__ $$aARTICLE