Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Stereotypic hand movements"'
Autor:
Sean Massey, Wendy A. Gold, Miya St John, Dean Phelan, Elena Savva, Nicole J Van Bergen, Susan M. White, John Christodoulou, Sze Chern Lim, Michelle C Torres, Alessandra Murgia, Kristin A Rigbye, Simranpreet Kaur, Melanie Marty, Teresa Zhao, Emanuela Leonardi, Bruria Ben-Zeev, Benjamin Kamien, David Coman, Tiong Yang Tan
Publikováno v:
Journal of Genetics and Genomics. 47:650-654
Pathogenic variants in methyl-CpG protein 2 (MECP2; OMIM 300005) result in an X-linked, severe, and progressive epigenetic disorder, Rett syndrome (RTT, OMIM: 312750), that predominantly affects females (Rett, 1966). Using Neul's revised diagnostic c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c96991d5ec2eaaa44197efc6bab7dc7c
https://doi.org/10.1016/j.jgg.2020.09.003
https://doi.org/10.1016/j.jgg.2020.09.003
Autor:
Joana Nunes, Fátima Santos, Miguel Leão, Marta Mesquita, Marta Vila Real, Isabel Alonso, Sofia Simoes Ferreira
Publikováno v:
Journal of Pediatric Neurology. 19:113-115
Neurodevelopmental disorders with features overlapping Rett's syndrome frequently remain unexplained in patients without disease-causing variants in MECP2. Variants in IQSEC2 frequently cause nonsyndromic X-linked intellectual disability (XLID), alth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e04f379f3dfd171a4bce7fe144434479
https://doi.org/10.1055/s-0040-1714105
https://doi.org/10.1055/s-0040-1714105
Publikováno v:
Paediatrica Indonesiana. 29:241-4
A case of Rett syndrome in a-3 ½ year-old girl is presented. The patient had normal pre and perinatal period and normal psychomotor development till the age of 14 months, followed by behavioural, social and psychomotor regression. Physical examinati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ad040c2696c6ed413c424f8fcaadc59
https://doi.org/10.14238/pi29.11-12.1989.241-4
https://doi.org/10.14238/pi29.11-12.1989.241-4
Autor:
William B. Dobyns, Katherine C. Nickels, Berkley R. Powell, Barbara K. Burton, Art Grix, Asem Alkhateeb, Elizabeth Berry-Kravis, Soma Das, Eric D. Marsh, Wendy K. Chung, Alex R. Paciorkowski, Livija Medne, Ghayda M. Mirzaa, Andrea Paras, Elaine C. Wirrell, Katherine H. Kim
Publikováno v:
Pediatric Neurology. 48:367-377
Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcd78639824b84f78de5079ce86d4ce1
https://doi.org/10.1016/j.pediatrneurol.2012.12.030
https://doi.org/10.1016/j.pediatrneurol.2012.12.030
Autor:
Sayan Chattopadhyay, Rachita Arora
Publikováno v:
Ethiopian Journal of Health Sciences; Vol 24, No 2 (2014); 171-174
Ethiopian Journal of Health Sciences
Ethiopian Journal of Health Sciences; Vol. 24 No. 2 (2014); 171-174
Ethiopian Journal of Health Sciences
Ethiopian Journal of Health Sciences; Vol. 24 No. 2 (2014); 171-174
Background: Rett Syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands. It is also associated with profound mental retardat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65102c1b1100934433a5939e9f626deb
https://www.ajol.info/index.php/ejhs/article/view/102523
https://www.ajol.info/index.php/ejhs/article/view/102523
Publikováno v:
Arquivos de Neuro-Psiquiatria v.65 n.1 2007
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Volume: 65, Issue: 1, Pages: 36-40, Published: MAR 2007
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Volume: 65, Issue: 1, Pages: 36-40, Published: MAR 2007
BACKGROUND: Rett syndrome (RS) is recognized as a pan-ethnic condition. Since the identification of mutations in the MECP2 gene, more patients have been diagnosed, and a broad spectrum of phenotypes has been reported. There is a lack of phenotype-gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1d5a1a111a91cc151192599c3526aae
https://doi.org/10.1590/s0004-282x2007000100009
https://doi.org/10.1590/s0004-282x2007000100009
Publikováno v:
The Journal of the Egyptian Public Health Association. 90(3)
BACKGROUND Rett syndrome (RTT) is an X-linked dominant neurodegenerative disorder with various MECP2 mutations. RTT is one of the most common causes of severe intellectual and complex disability in girls. Therefore, the aims of the study were as foll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e0de661fbd6edbe2efe2cf95294093f
https://pubmed.ncbi.nlm.nih.gov/26544843
https://pubmed.ncbi.nlm.nih.gov/26544843
Publikováno v:
Brain & Development, 28(8), 487-494. Elsevier
Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by a progressive loss of intellectual functioning and motor skills, and the development of stereotypic hand movements, that occur after a pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d24cc46b125e314892037a299addb4d3
https://cris.maastrichtuniversity.nl/en/publications/111705a3-1c80-437a-b107-7717ef8d0cbd
https://cris.maastrichtuniversity.nl/en/publications/111705a3-1c80-437a-b107-7717ef8d0cbd
Autor:
Muneaki Matsuo, Ikuko Kondo, Kiyohisa Ishii, Tatsuo Masuyama, Yuka Kan, Yasuharu Tabara, Kyoko Kitsuki, Tetsuro Miki, Hidehisa Yamagata, Jin J. Jing
Publikováno v:
BRAIN AND DEVELOPMENT -INTERNATIONAL EDITION. 27(6):439-442
About 80% of female patients with Rett syndrome (RTT) display a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, but most males with MECP2 mutation experience severe fatal encephalopathy or non-specific X-linked mental retardation (XLMR). T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e49eb57f0690ba1c14e756191acdbfd
https://saga-u.repo.nii.ac.jp/records/19417
https://saga-u.repo.nii.ac.jp/records/19417