Zobrazeno 1 - 10
of 206
pro vyhledávání: '"ring chromosome 20"'
Publikováno v:
Vojnosanitetski Pregled, Vol 79, Iss 2, Pp 196-200 (2022)
Introduction. Ring chromosome 20 [r(20)] syndrome is a rare genetic abnormality where two arms of the 20th chromosome fuse forming a ring chromosome, resulting in intractable epilepsy and wide range of behavioral problems and cognitive deficits. Case
Externí odkaz:
https://doaj.org/article/fe7ac8d9c6a04735b2e939635c61021a
Publikováno v:
Epilepsia Open, Vol 5, Iss 2, Pp 295-300 (2020)
Abstract Ring chromosome 20 syndrome (r(20)) is an ultra‐rare disease characterized by drug‐refractory epilepsy, cognitive impairment, and behavioral problems. Nonpharmacological treatments alongside antiepileptic drugs early after diagnosis may
Externí odkaz:
https://doaj.org/article/c9e866019d3a4b18b77ea3074a876c7d
Autor:
Angela Peron, Ilaria Catusi, Maria Paola Recalcati, Luciano Calzari, Lidia Larizza, Aglaia Vignoli, Maria Paola Canevini
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Ring chromosome 20 [r(20)] syndrome is a rare condition characterized by a non-supernumerary ring chromosome 20 replacing a normal chromosome 20. It is commonly seen in a mosaic state and is diagnosed by means of karyotyping. r(20) syndrome is charac
Externí odkaz:
https://doaj.org/article/f3c3bc7fb17743c0856e38398ae49264
Publikováno v:
Vojnosanitetski pregled. 79:196-200
Introduction. Ring chromosome 20 [r(20)] syndrome is a rare genetic abnormality where two arms of the 20th chromosome fuse forming a ring chromosome, resulting in intractable epilepsy and wide range of behavioral problems and cognitive deficits. Case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::366cae38d6e9c445940cc8f06076c9df
https://doi.org/10.2298/vsp200601096b
https://doi.org/10.2298/vsp200601096b
Publikováno v:
Nauchno-prakticheskii zhurnal «Medicinskaia genetika». :51-55
Представлен случай малой сверхчисленной маркерной хромосомы (мСМХ) у мальчика трех лет с лицевыми аномалиями и речевыми нарушениями. Ст
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::349da1386332bbe35ec64bbc52cda65c
https://doi.org/10.25557/2073-7998.2020.10.51-55
https://doi.org/10.25557/2073-7998.2020.10.51-55
Autor:
Takashi Saito, Masayuki Sasaki, Yuko Shimizu-Motohashi, Kenji Sugai, Hiroya Ono, Eiji Nakagawa, Eri Takeshita, Akihiko Ishiyama
Publikováno v:
Journal of the Japan Epilepsy Society. 38:19-27
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c18569141e6b742b778ddb78bf99583
https://doi.org/10.3805/jjes.38.19
https://doi.org/10.3805/jjes.38.19
Publikováno v:
Brain and Development. 42:473-476
Background Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by refractory seizure, mental retardation, and behavioral problems. Although there are reports of the effective treatment of patients with antiepileptic drugs (AEDs),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a900df9baff2bf7db1130691ce238f5
https://doi.org/10.1016/j.braindev.2020.03.003
https://doi.org/10.1016/j.braindev.2020.03.003
Autor:
A Radha Rama Devi
Publikováno v:
Asian Journal of Medical Sciences, Vol 2, Iss 3, Pp 141-144 (2012)
Ring chromosome 20 is a rare chromosomal abnormality characterized mainly by refractory epileptic seizures, cognitive and behavioral problems, and absence of definite dysmorphic features. We report a 5-year-old boy with refractory epilepsy and minima
Externí odkaz:
https://doaj.org/article/1b5ff9fbe7bb4e2ab1b3515471dd5fc2
Publikováno v:
Annals of Indian Academy of Neurology
Annals of Indian Academy of Neurology, Vol 24, Iss 5, Pp 805-807 (2021)
Annals of Indian Academy of Neurology, Vol 24, Iss 5, Pp 805-807 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3bdcabd86520c546f9a122445b827c7
http://europepmc.org/articles/PMC8680879
http://europepmc.org/articles/PMC8680879
Publikováno v:
Epilepsia Open, Vol 5, Iss 2, Pp 295-300 (2020)
Epilepsia Open
Epilepsia Open
Ring chromosome 20 syndrome (r(20)) is an ultra‐rare disease characterized by drug‐refractory epilepsy, cognitive impairment, and behavioral problems. Nonpharmacological treatments alongside antiepileptic drugs early after diagnosis may help redu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aef4828655185096211f415960e3ff7c
https://www.repository.cam.ac.uk/handle/1810/303822
https://www.repository.cam.ac.uk/handle/1810/303822
