Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Micropolygyria"'
Publikováno v:
I.P. Pavlov Russian Medical Biological Herald. 26:337-344
Aim. The aim of the study was to reveal structural peculiarities of the ventricular germinal zone and of the neocortex in newborns of 22-40 weeks gestation with congenital hydrocephalus associated with anomalies in development of the cerebral aqueduc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24a3325f25de0fdf30567d29d3dc705b
https://doi.org/10.23888/pavlovj2018263337-344
https://doi.org/10.23888/pavlovj2018263337-344
Akademický článek
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Autor:
Corrado Angelini
Publikováno v:
Genetic Neuromuscular Disorders ISBN: 9783319564531
Fukuyama et al. [1, 2] independently described a form of CMD recurrent in Japan, where patients manifested generalized muscle weakness and hypotonia and most were unable to reach independent walking. Mental retardation is common, and some have epilep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b4e696b7b2a422915cae88ca0eef8bf
https://doi.org/10.1007/978-3-319-56454-8_27
https://doi.org/10.1007/978-3-319-56454-8_27
Publikováno v:
The Journal of Pediatrics. 156:671-674
9-year-old girl of mixed Asian and Caucasian descent was referred to pediatric dermatology to evaluate skin changes affecting her knuckles. She reported a 3-month history of intermittent ‘‘burning’’ pain and swelling of her hands. This occurr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4a9ba69cbd3b03fb8eb97d4c676ce32
https://doi.org/10.1016/j.jpeds.2010.01.026
https://doi.org/10.1016/j.jpeds.2010.01.026
Autor:
Katsutoshi Miura, Haruyuki Shirasawa
Publikováno v:
Pathology International. 37:1823-1835
Autopsy findings of a 17-year-old Japanese male with the typical features of congenital muscular dystrophy of the Fukuyama type (FCMD) are presented. This case showed progressi. ve muscular dystrophy and central nervous system malformation, accompani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfa6044dde90aefc4237f13a189ecf55
https://doi.org/10.1111/j.1440-1827.1987.tb02875.x
https://doi.org/10.1111/j.1440-1827.1987.tb02875.x
Autor:
Bruno Delobel, Bénédicte Duban-Bedu, Louis Vallée, Anne Dieux-Coeslier, Sylvie Joriot-Chekaf, Joris Andrieux, Jean-Christophe Cuvellier, Sylvie Manouvrier-Hanu
Publikováno v:
European Journal of Medical Genetics. 51:87-91
We here report a boy presenting with developmental delay, growth retardation, facial dysmorphisms, vermis hypoplasia, micropolygyria and corpus callosum agenesis. Conventional and high resolution cytogenetic analyses were normal but high resolution o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::20d0b2c7aceda635f4d0859b81fec27c
https://doi.org/10.1016/j.ejmg.2007.10.004
https://doi.org/10.1016/j.ejmg.2007.10.004
Autor:
Tomoko Yamamoto, Kayoko Saito, Makio Kobayashi, Yoshiaki Saito, Masashi Mizuguchi, Makiko Osawa, Kousaku Ohno
Publikováno v:
Brain Research. 1075:223-228
To test the hypothesis that the disruption of fukutin protein produces the brain pathology through hypoglycosylation of alpha-dystroglycan (alpha-DG), we immunostained Fukuyama congenital muscular dystrophy (FCMD) brains with an antibody that recogni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48ff6aa2e9ed59d71e128f02b774d403
https://doi.org/10.1016/j.brainres.2005.12.108
https://doi.org/10.1016/j.brainres.2005.12.108
Autor:
Masahiko Mikuni, Kosuke Narita, Toru Uehara, Masashi Suda, Yuichi Takei, Masaki Kameyama, Masato Fukuda, Yoshiyuki Aoyama
Publikováno v:
International Journal of Eating Disorders. 45:447-449
We report the case of an anorexia nervosa (AN) patient with extremely low body weight who became pregnant following ovulation induction and subsequently delivered an infant with micropolygyria. To the best of our knowledge, no previous report has des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0e08be9c40b97a8d539927181429f9a
https://doi.org/10.1002/eat.20927
https://doi.org/10.1002/eat.20927
Autor:
Xiru Wu, Hui Jiao, Hui Xiong, Tatsushi Toda, Kazuhiro Kobayashi, Jiangxi Xiao, Shuo Wang, Haipo Yang
Publikováno v:
Braindevelopment. 37(9)
Purpose Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b41a299063cac3512f314c3ee004ca4
https://pubmed.ncbi.nlm.nih.gov/25814170
https://pubmed.ncbi.nlm.nih.gov/25814170
Publikováno v:
American Journal of Medical Genetics. 95:425-428
We report on a female fetus with partial trisomy 9 due to a reciprocal translocation in the mother. Routine ultrasound examination at 23 weeks showed hypoplasia of the cerebellar vermis, dilated foramen Magendii, and dilatation of the cisterna magna.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a80784fe784d1ff38e4c679004529529
https://doi.org/10.1002/1096-8628(20001218)95:5<425::aid-ajmg3>3.0.co
https://doi.org/10.1002/1096-8628(20001218)95:5<425::aid-ajmg3>3.0.co