Search Results - "PER, Hüseyin"

Electroencephalogram abnormalities in patients with NREM parasomnias by Sarilar, Ayse Caglar, Ismailogullari, Sevda, Yilmaz, Rezzak, Erdogan, Füsun Ferda, Per, Hüseyin

“…Electroencephalographic (EEG) changes in patients with NREM parasomnias (NRP) occur in sleep architecture as changes in slow wave sleep or cyclic pattern,…”
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An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum by Bayram, Ayşe Kaçar, Kütük, Mehmet Serdar, Doganay, Selim, Özgün, Mahmut Tuncay, Gümüş, Hakan, Başbuğ, Mustafa, Kumandaş, Sefer, Canpolat, Mehmet, Per, Hüseyin

“…Background Agenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the…”
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Biochemical risk factors associated with refractory epilepsy: alpha synuclein and adenosine deaminase by Şener, Nurdan, Keti, Didem Barlak, Güleç, Ayten, Canpolat, Mehmet, Per, Hüseyin, Gümüş, Hakan, Muhtaroğlu, Sabahattin

“…Abstract Background Epilepsy is a common chronic neurological disorder affecting all age groups. A significant portion of children with epilepsy develop…”
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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth by Harms, Frederike L, Rexach, Jessica Erin, Efthymiou, Stephanie, Aynekin, Busra, Per, Hüseyin, Güleç, Ayten, Nampoothiri, Sheela, Sampaio, Hugo, Sachdev, Rani, Stoeva, Radka, Myers, Kasiani, Pena, Loren D M, Kalfa, Theodosia A, Chard, Marisa, Klassen, Megan, Pries, Megan, Kutsche, Kerstin

“…Biallelic loss-of-function variants in TBC1D2B have been reported in five subjects with cognitive impairment and seizures with or without gingival overgrowth…”
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Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations by Öztürk, Selcan, Güleç, Ayten, Erdoğan, Murat, Demir, Mikail, Canpolat, Mehmet, Gümüş, Hakan, Çağlayan, Ahmet Okay, Dündar, Munis, Per, Hüseyin

“…Congenital myasthenic syndromes (CMS) are composed of numerous hereditary disorders involving genetic mutations in proteins essential to the integrity of…”
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MR imaging findings in children with pseudotumor cerebri and comparison with healthy controls by Görkem, Süreyya Burcu, Doğanay, Selim, Canpolat, Mehmet, Koc, Gonca, Dogan, Mehmet S., Per, Hüseyin, Coşkun, Abdülhakim

“…Objective The aim of this study was to discuss the MR imaging findings of pseudotumor cerebri in children by comparing with healthy controls. Materials and…”
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A Rare Cause of Hypotonia: 49,XXXXX (Pentasomy X): A Rare Cause of Hypotonia: 49,XXXXX (Pentasomy X) by Aydoğan, Kübra, Öztürk, Selcan, Dündar, Munis, Gümüş, Hakan, Saatçi, Çetin, Per, Hüseyin

“…Pentasomy X syndrome is a very rare sex chromosome numerical anomaly of unknown frequency. The karyotype consists of 49,XXXXX. Musculoskeletal, craniofacial,…”
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Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy by Wang, Haicui, Castiglioni, Claudia, Kaçar Bayram, Ayşe, Fattori, Fabiana, Pekuz, Serdar, Araneda, Diego, Per, Hüseyin, Erazo, Ricardo, Gümüş, Hakan, Zorludemir, Suzan, Becker, Kerstin, Ortega, Ximena, Bevilacqua, Jorge Alfredo, Bertini, Enrico, Cirak, Sebahattin

“…Highlights • Two novel SPEG mutations in 2 unrelated patients with CNM • One frame shit (c.1627-1628insA, p.Thr544Aspfs*48) mutation resulted in short…”
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A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort by ŞAHİN, İzem Olcay, KARATAŞ, Emine, DEMİR, Mikail, TAN, Büşra, PER, Hüseyin, ÖZKUL, Yusuf, DÜNDAR, Munis

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Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment by Gök, Veysel, Erdem, Şerife, Haliloğlu, Yeşim, Bişgin, Atıl, Belkaya, Serkan, Başaran, Kemal Erdem, Canatan, Mehmed Fatih, Özcan, Alper, Yılmaz, Ebru, Acıpayam, Can, Karakükcü, Musa, Canatan, Halit, Per, Hüseyin, Patıroğlu, Türkan, Eken, Ahmet, Ünal, Ekrem

“…Insufficient dietary folate intake, hereditary malabsorption, or defects in folate transport may lead to combined immunodeficiency (CID). Although loss of…”
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Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations by Bayram, Nurettin, Bayram, Ayşe Kaçar, Per, Hüseyin, Gümüş, Hakan, Ozsaygili, Cemal, Doğan, Mehmet Said, Çağlayan, Ahmet Okay

“…Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye…”
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Diagnostic Delay and Clinical Features in Friedreich’s Ataxia by Yetkin, Mehmet Fatih, Gültekin, Murat, Akçakoyunlu, Merve, Baydemir, Recep, Sarılar, Ayşe, Canpolat, Mehmet, Per, Hüseyin

“…Objective: Friedreich ataxia (FRDA) is the most frequent hereditary ataxia characterized by progressive gait and limb ataxia, dysarthria, sensory loss, and…”
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The Prevalence of Migraine and Tension-Type Headache Among Schoolchildren in Kayseri, Turkey: An Evaluation of Sensitivity and Specificity Using Multivariate Analysis by Poyrazoğlu, Hatice Gamze, Kumandas, Sefer, Canpolat, Mehmet, Gümüs, Hakan, Elmali, Ferhan, Kara, Ahu, Per, Hüseyin

“…This study aimed to determine the prevalence as well as psychosocial and demographic features of migraine and tension-type headache among school children…”
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A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability by Özmansur, Elif Nurdan, Pedük, Yakup, Gümüş, Hakan, Çağlayan, Ahmet Okay, Per, Hüseyin

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Evaluation of two types of drug treatment with QEEG in children with ADHD by Aldemir, Ramazan, Demirci, Esra, Bayram, Ayşe Kaçar, Canpolat, Mehmet, Ozmen, Sevgi, Per, Hüseyin, Tokmakci, Mahmut

“…The aim of this study is to evalute the effects of methylphenidate and atomoxetine treatments on electroencephalography (EEG) signals in volunteer children…”
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Restless leg syndrome in children with celiac disease by Işıkay, Sedat, Işıkay, Nurgül, Per, Hüseyin, Çarman, Kürşat Bora, Kocamaz, Halil

“…Işıkay S, Işıkay N, Per H, Çarman KB, Kocamaz H. Restless leg syndrome in children with celiac disease. Turk J Pediatr 2018; 60: 70-75. Celiac disease (CD) is…”
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Assessment of Psychopathology and Quality of Life in Children and Adolescents With Migraine by Öztop, Didem Behice, Taşdelen, Bedia İnce, PoyrazoğLu, Hatıce Gamze, Ozsoy, Saliha, Yilmaz, Rabia, Şahın, Nilfer, Per, Hüseyin, Bozkurt, Selma

“…Aim: The aims of this study were to investigate comorbid psychiatric disorders and to identify anxiety and depression levels and quality of life in children…”
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Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review by Bayram, Nurettin, Kaçar Bayram, Ayşe, Daimagüler, Hülya-Sevcan, Dafsari, Hormos Salimi, Bamborschke, Daniel, Uyanik, Gökhan, Erdogan, Murat, Özsaygılı, Cemal, Pangal, Emine, Yuvaci, İsa, Doğanay, Selim, Gümüş, Hakan, Per, Hüseyin, Jungbluth, Heinz, Çırak, Sebahattin

“…Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients’…”
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A Rare Cause of Spasticity and Microcephaly: Argininemia by Soylu Üstkoyuncu, Pembe, Kendirci, Mustafa, Gökay, Songül, Kardaş, Fatih, Gümüş, Hakan, Per, Hüseyin, Poyrazoğlu, Hatice Gamze, Kaçar Bayram, Ayşe, Canpolat, Mehmet, Kumandaş, Sefer

“…Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation,…”
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Genetic Polymorphism of VKORC1-1639 in Children With Intracranial Hemorrhage Due to Vitamin K Deficiency by Berber, Uğur, Özdemir, Mehmet Akif, Unal, Ekrem, Taheri, Serpil, Yildiz, Serkan, Bayramov, Keziban Korkmaz, Güler, Yunus, Per, Hüseyin

“…Intracranial hemorrhage due to vitamin K deficiency is a serious disease that can lead to morbidity, mortality, and mental retardation. Our goal in this study…”
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