Zobrazeno 1 - 10
of 92
pro vyhledávání: '"Füsun Alehan"'
Publikováno v:
Cukurova Medical Journal, Vol 40, Iss 1, Pp 169-173 (2015)
Phelan-McDermid sendromu olarak da bilinen 22q13.3 delesyon sendromu, global gelişme geriliği, gecikmiş ve gelişmemiş konuşma, jenaralize hipotoni ve minör fiziksel anomaliler ile karekterizedir. Delesyon tipik olarak 22q13.3'ün terminal band
Externí odkaz:
https://doaj.org/article/c61c89017be0466a93ad8826a185cc20
Autor:
Barış Malbora, Zekai Avcı, Fulden Dönmez, Bülent Alioğlu, Esra Baskın, Füsun Alehan, Namık Özbek
Publikováno v:
Turkish Journal of Hematology, Vol 27, Iss 3, Pp 168-176 (2010)
OBJECTIVE: : Posterior reversible leukoencephalopathy syndrome (PRES) is characterized by headache, altered mental status, cortical blindness, and seizures associated with neuroradiological findings. It involves predominantly white matter of the pari
Externí odkaz:
https://doaj.org/article/bebabb34c37549e984edac8c736a9350
Publikováno v:
Turkish Journal of Hematology, Vol 27, Iss 3, Pp 216-218 (2010)
Externí odkaz:
https://doaj.org/article/7039d3edaf6a4fb59eced342e8826ed5
Autor:
Luc Régal, Katie Clarkson, Katherine Lachlan, Kati J. Buckingham, Charles J. Waechter, F. Sessions Cole, Kimiyo Raymond, Rita Barone, Daisy Rymen, Derek Wong, Arve Vøllo, Gert Matthijs, Jay Shendure, Alina T. Midro, Erik A. Eklund, Hudson H. Freeze, Rudy Van Coster, Gregory M. Cooper, Jeffrey S. Rush, Sergey A. Shiryaev, Luísa Diogo, Philip James, Andrew J. Kornberg, Laurie A. Demmer, Jose E. Abdenur, Valerie Race, Maria Kibaek, Shawn O'Connor, Lynne A. Wolfe, Amarilis Sanchez-Valle, Agata Fiumara, Miao He, Raymond Y. Wang, Alex J. Fay, Martin Kircher, Rebecca D. Ganetzky, William A. Gahl, Erika Souche, Füsun Alehan, Amy Yang, Michael J. Bamshad, Himanshu Goel, S. Lane Rutledge, Jane E. Brumbaugh, Susan Sparks, Daniel Katz, Can Ficicioglu, Bobby G. Ng, Jaak Jaeken, Heidi Peters, Christina Lam, Gerard T. Berry, Liesbeth Keldermans, Eric Vilain, Tim Wood, Lyndsay A. Harshman, Deborah A. Nickerson, Pamela Trapane, Joy Yaplito-Lee
Publikováno v:
Human Mutation. 37:653-660
Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over one hundred genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37d794721c393eee4b671097cc801db2
https://doi.org/10.1002/humu.22983
https://doi.org/10.1002/humu.22983
Publikováno v:
Journal of Child Neurology. 31:285-288
To determine the prevalence of celiac disease in children and adolescents with nonsyndromic intellectual disability, we investigated serum levels of tissue transglutaminase antibody and total IgA from 232 children with nonsyndromic intellectual disab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2beb80a098cddda8ca645ed62674a92d
https://doi.org/10.1177/0883073815589759
https://doi.org/10.1177/0883073815589759
Autor:
Füsun Alehan, Hadassah Goldberg-Stern, Taner Sezer, Miki Har-Gil, Michael Farkash, Nathan Watemberg
Publikováno v:
Pediatric Neurology. 52:410-413
Objective Hyperventilation induces absence seizures in children with absence epilepsy, and routine electroencephalography studies include three minutes of hyperventilation. We studied the duration of hyperventilation required to provoke a first absen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89d7080aec6c127e28ceca8e83ec0c28
https://doi.org/10.1016/j.pediatrneurol.2014.12.003
https://doi.org/10.1016/j.pediatrneurol.2014.12.003
Publikováno v:
Pediatric Neurology
Background Acute disseminated encephalomyelitis is an immune-mediated disease that produces multiple inflammatory lesions in the brain and spinal cord. Methods This study retrospectively evaluated 15 children with acute disseminated encephalomyelitis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aab9069b36642d73b6c5e5d361dd49e7
https://doi.org/10.1016/j.pediatrneurol.2013.03.021
https://doi.org/10.1016/j.pediatrneurol.2013.03.021
Publikováno v:
International Journal of Neuroscience. 123:553-556
the goal of this prospective and double-blind study was to compare the efficacy of amitriptyline and topiramate for the prevention of pediatric chronic daily headache (CDH).fifty-seven children (aged 9-16 yr) diagnosed with CDH were randomly assigned
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a63dedd706ded3d0df5628e03175f7ba
https://doi.org/10.3109/00207454.2013.776048
https://doi.org/10.3109/00207454.2013.776048
Autor:
Hannu Kalimo, Angela Schulz, Maria Kousi, Liisa Myllykangas, Anna-Elina Lehesjoki, Erik Riesch, Aarno Palotie, Füsun Alehan, Stella Calafato, Verneri Anttila, Outi Kopra, Johannes R Lemke, Eveliina Jakkula, Michael Alber, Meral Topçu, Sarenur Gökben
Publikováno v:
Journal of Medical Genetics. 49:391-399
Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration. This study aimed to identify the underlying gene(s) in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a29b9a303351921c5b79ce2b082d85
https://doi.org/10.1136/jmedgenet-2012-100859
https://doi.org/10.1136/jmedgenet-2012-100859
Autor:
Umut Selda Bayrakci, Virginia Vega-Warner, Füsun Alehan, Fatih Ozaltin, Handan Ozdemir, Ayse Oner, Esra Baskin, Friedhelm Hildebrandt, Rita Horvath
Publikováno v:
Pediatric Nephrology. 26:1157-1161
Renal manifestations of mitochondrial cytopathies have been described, but nephrotic syndrome with respiratory-chain disorders have been described extremely rarely. We report a 9-month-old boy with a mitochondrial cytopathy preceded by a 2-month hist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0392ca536636ea0d9ae2110fd7bc63f
https://doi.org/10.1007/s00467-011-1814-0
https://doi.org/10.1007/s00467-011-1814-0