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        Síndrome de Rett: estudo retrospectivo e prospectivo de 28 pacientesRett syndrome: retrospective and prospective study of 28 patients 

        Bruck, Isac; Antoniuk, Sérgio A.; Halick, Silvia M.S.; Spessatto, Adriane; Bruyn, Lais R.; Rodrigues, Marcelo; Koneski, Júlio; Facchim, Daniela (Academia Brasileira de Neurologia - ABNEURO, 2001)

        Rett Syndrome: Retrospective And Prospective Study Of 28 Patients [síndrome De Rett: Estudo Retrospectivo E Prospectivo De 28 Pacientes] 

        Bruck I.; Antoniuk S.A.; Halick S.M.S.; Spessatto A.; Bruyn L.R.; Rodrigues M.; Koneski J.; Facchim D. (, 2001)

        Un caso de síndrome de RettA case of Rett syndrome 

        Rojas de Rangel, Daicy; Salinas, Pedro José; Omaña, Atilio (SABER ULA, 2005)

        Un caso de síndrome de RettA case of Rett syndrome 

        Rojas de Rangel, Daicy; Salinas, Pedro José; Omaña, Atilio (SABER ULA, 2005)

        The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome 

        Vidal, S.; Brandi, N.; Pacheco, P.; Maynou, J.; Fernandez, G.; Xiol, C.; Pascual-Alonso, A.; Pineda, M.; O'Callaghan C., Maria del Mar; Garcia-Cazorla, Àngels; Serrano Munuera, Maria; García, Silvia Cuso; Troncoso, Monica; Fariña, Guillermo; García Peñas, Ju (W.B. Saunders Ltd, 2019)
        Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although ...

        Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV 

        Universidade de São Paulo (USP); Vrije Univ Amsterdam; Burke Cornell Med Res Inst; Sch Med ABC; Universidade Estadual Paulista (Unesp) (Dove Medical Press Ltd, 2014-01-01)
        We aimed to evaluate the functional abilities of persons with Rett syndrome (RTT) in stages III and IV. The group consisted of 60 females who had been diagnosed with RTT: 38 in stage III, mean age (years) of 9.14, with a ...

        Síndrome de Rett: análisis molecular del gen MECP2 en pacientes chilenas 

        Aron, Carolina; Rauch, Geraldinne; Benavides, Felipe; Repetto, Gabriela (2019)
        El síndrome de Rett (RTT) es un trastorno neurológico progresivo caracterizado por producir una regresión del desarrollo psicomotor en niñas previamente sanas. La mayoría de los casos son causados por variantes patogénicas ...

        WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature 

        Hoffjan, Sabine; Ibisler, Aysegül; Tschentscher, Anne; Dekomien, Gabriele; Bidinost, Carla; Rosa, Alberto Luis (Academic Press Ltd - Elsevier Science Ltd, 2016-02)
        Mutations in the WDR45 gene have been identified as causative for the only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay in childhood, followed ...

        Eating practices, nutritional status and constipation in patients with Rett syndrome 

        Schwartzman, Flavia [UNIFESP]; Vítolo, Márcia Regina; Schwartzman, José Salomão; Morais, Mauro Batista de [UNIFESP] (Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia - IBEPEGE Colégio Brasileiro de Cirurgia Digestiva - CBCD Sociedade Brasileira de Motilidade Digestiva - SBMD Federação Brasileira de Gastroenterologia - FBGSociedade Brasileira de Hepatologia - SBHSociedade Brasileira de Endoscopia Digestiva - SOBED, 2008-12-01)
        BACKGROUND: Disturbance in chewing, swallowing and digestive motility may predispose to feeding and nutritional abnormalities in patients with Rett syndrome. OBJECTIVE: To evaluate the dietary habits, nutritional status ...

        Genotype-phenotype correlation in Brazillian Rett syndrome patients 

        Lima, Fernanda T. de; Brunoni, Decio; Schwartzman, José Salomão; Pozzi, Maria Cristina; Kok, Fernando; Juliano, Yara; Pereira, Lygia da Veiga (Academia Brasileira de Neurologia - ABNEURO, 2009-09-01)
        BACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between ...
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        Red de Repositorios Latinoamericanos
        + of 4.000.000
        Available publications
        163 Participating institutions
        Dirección de Servicios de Información y Bibliotecas (SISIB)
        Universidad de Chile
        Membership Login
        Featured collections
        • Latin American Theses
        • Argentinean Theses
        • Chilean Theses
        • Peruvian Theses
        Latest collections added
        • Argentina
        • Brazil
        • Colombia
        • México
        Dirección de Servicios de Información y Bibliotecas (SISIB)
        Universidad de Chile
        Red de Repositorios Latinoamericanos | 2006-2018