نتایج جستجو برای: rett syndrome

تعداد نتایج: 622097  

Journal: :Human mutation 2009
Periklis Makrythanasis Philipp Kapranov Lucia Bartoloni Alexandre Reymond Samuel Deutsch Roderic Guigó France Denoeud Jorg Drenkow Colette Rossier Francesca Ariani Valeria Capra Laurent Excoffier Alessandra Renieri Thomas R Gingeras Stylianos E Antonarakis

The study of transcription using genomic tiling arrays has lead to the identification of numerous additional exons. One example is the MECP2 gene on the X chromosome; using 5'RACE and RT-PCR in human tissues and cell lines, we have found more than 70 novel exons (RACEfrags) connecting to at least one annotated exon.. We sequenced all MECP2-connected exons and flanking sequences in 3 groups: 46 ...

Journal: :Research in autism spectrum disorders 2011
Deidra Young Ami Bebbington Nick de Klerk Carol Bower Lakshmi Nagarajan Helen Leonard

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation type. Data were obtained from questionnaires administered over six years to 256 participants from the Australian Rett Syndrome Database. Health status (episodes of illness and medication load) and health service use (general practitioner and specialist visits and hospi...

Journal: :Pediatric Neurology Briefs 1990

Journal: :Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2001

Journal: :European Heart Journal - Cardiovascular Imaging 2011

Journal: :Journal of Neuroscience 2011

Journal: :Frontiers in Neuroanatomy 2014

Journal: :Archives of Disease in Childhood 1994

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