Search
Now showing items 1-10 of 42
Síndrome de Rett: estudo retrospectivo e prospectivo de 28 pacientesRett syndrome: retrospective and prospective study of 28 patients
(Academia Brasileira de Neurologia - ABNEURO, 2001)
Un caso de síndrome de RettA case of Rett syndrome
(SABER ULA, 2005)
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
(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 ...
Eating practices, nutritional status and constipation in patients with Rett syndrome
(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
(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 ...
Genotype-phenotype correlation in Brazillian Rett syndrome patients
(Academia Brasileira de Neurologia - ABNEURO, 2009)
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 ...
UNCONVENTIONAL TRANSCRIPTIONAL RESPONSE TO ENVIRONMENTAL ENRICHMENT IN A MOUSE MODEL OF RETT SYNDROME
(PUBLIC LIBRARY SCIENCE, 2010)
UNCONVENTIONAL TRANSCRIPTIONAL RESPONSE TO ENVIRONMENTAL ENRICHMENT IN A MOUSE MODEL OF RETT SYNDROME
(PUBLIC LIBRARY SCIENCE, 2010)
UNCONVENTIONAL TRANSCRIPTIONAL RESPONSE TO ENVIRONMENTAL ENRICHMENT IN A MOUSE MODEL OF RETT SYNDROME
(PUBLIC LIBRAY OF SCIENCE, 2010)