Results 11 to 20 of about 11,896 (240)

Lizensefali Tip 1'in eşlik ettiği dikkat eksikliği ve hiperaktivite bozukluğu

Sakarya Tıp Dergisi, 2012
Dikkat Eksikliği Hiperaktivite Bozukluğu (DEHB) dikkatsizlik, dikkat dağınıklığı, yerinde duramama,aşırı hareketlilik, dürtüsellik ile karakterizedir. DEHB'de beyinde yapısal ve fonksiyonel değişikliklerin olduğuna dair kanıtlar vardır.
Dilcan Kotan, İsmet Kırpınar, Tülin Fidan   +2 more
doaj   +2 more sources

Total callosotomy ameliorates epileptic activity and improves cognitive function in a patient with Miller-Dieker syndrome [PDF]

Epilepsy & Behavior Reports
Miller-Dieker syndrome (MDS) is characterized by facial abnormalities and lissencephaly and is caused by a microdeletion in the region containing the LIS1 gene at chromosome 17p13.3.
Masataka Fukuoka, Ichiro Kuki, Yuka Hattori, Hitomi Tsuji, Asako Horino, Megumi Nukui, Takeshi Inoue, Shin Okazaki, Noritsugu Kunihiro, Takehiro Uda   +9 more
doaj   +2 more sources

GENOTYPE-PHENOTYPE CORRELATION IN CASES WITH LISSENCEPHALY SPECTRUM

Sabiad, 2022
Objective: In this study, we aimed to evaluate six cases diagnosed with lissencephaly in terms of the genotype-phenotype correlation. Materials and Methods: Six cases with lissencephaly, which were followed up in our outpatient clinic, were included in ...
Ayça Dilruba Aslanger, Zehra Oya Uyguner, Birsen Karaman, Seher Başaran, Hülya Kayserili Karabey   +4 more
doaj   +1 more source

Lissencephaly [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1976
SUMMARY:The first reported case of lissencephaly resulting from a consanguinous union strengthens the supposition that in some cases, it is transmitted as an autosomal recessive trait. Comparison of this case with a sporadically occuring case of lissencephaly, with different cortical morphology, suggests that lissencephaly may be an example of either ...
M G, Norman, M, Roberts, J, Sirois, L J, Tremblay   +3 more
openaire   +2 more sources

Hind Brain Agenesis A Rare Imaging Findings In Cerebro Cerebellar Lissencephalic Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2014
A case report of cerebro cerebellar lissencephaly shows complete agenesis of cerebellum and brainstem which is rare imaging finding of group lissencephaly (type I lissencephaly).
Praveen M. Mundaganur, Pradeep Solwalkar, Vishal Nimbal   +2 more
doaj   +1 more source

Intrahepatic persistent fetal right umbilical vein: a retrospective study [PDF]

, 2021
Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed.
Di Meglio A., Di Meglio L., Di Meglio L., Locci M., Mastantuoni E., Raffone A., Riccardi C., Saccone G., Toscano P., Zullo F.   +9 more
core   +1 more source

A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly

Tokyo Women's Medical University Journal, 2020
Lissencephaly is a severe brain malformation associated with abnormal formation of cerebral sulci. Until now, many genes related to lissencephaly have been identified.
Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Satoru Nagata, Toshiyuki Yamamoto   +5 more
doaj   +1 more source

Malformations of cortical development: Embryology and epilepsy. [PDF]

Epilepsia
Abstract One in seven patients with focal epilepsy has a malformation of cortical development (MCD) as underlying cause. Understanding normal cortical development combined with knowledge of where, when, and what goes wrong in different types of MCD provides insight into the mechanisms of epileptogenesis.
Hoeberigs MC, Tousseyn S, ACE Study Group.   +2 more
europepmc   +2 more sources

Prenatal diagnosis of lissencephaly: A case report [PDF]

Vojnosanitetski Pregled, 2016
Introduction. Lissencephaly (“smooth brain”) forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children.
Cerovac Nataša, Terzić Milan, Borković Milan, Divac Nevena, Stojanović Radan, Prostran Milica   +5 more
doaj   +1 more source

CENP-F stabilizes kinetochore-microtubule attachments and limits dynein stripping of corona cargoes [PDF]

, 2020
Accurate chromosome segregation demands efficient capture of microtubules by kinetochores and their conversion to stable bioriented attachments that can congress and then segregate chromosomes.
Allan, Andrew D. McAinsh, Auckland, Bancroft, Baumbach, Berto, Berto, Bolhy, Bomont, Chan, Ciossani, Currie, DeSantis, Dix, Dudka, Emanuele Roscioli, Etemad, Faulkner, Feng, Filges, Gama, Gassmann, Gutierrez, Haley, Helena Louise Elvidge Coker, Helgeson, Hoffman, Holt, Howell, Huang, Huis In ’t Veld, Johnson, Kanfer, Kanfer, Klinman, Kuhn, Liu, Magidson, Magidson, Maiato, McEwen, McEwen, McKinley, Meraldi, Monda, Moughamian, Musacchio, Musacchio, Musinipally, Olenick, Olziersky, Pandey, Pereira, Peterka, Philip Auckland, Raaijmakers, Ran, Rattner, Rodriguez-Rodriguez, Roscioli, Sacristan, Samejima, Schmidt, Shao, Shrestha, Siller, Simões, Stehman, Tai, Thrower, Toropova, Vagnoni, Vergnolle, Volkov, Wojcik, Wynne, Wynne, Wynne, Yang, Yi, Zhu   +80 more
core   +1 more source