Search Results - "HIZ, Semra"

Inflammation and endothelial dysfunction in pediatric migraine patients by Polat, İpek, Karaoğlu, Pakize, Şişman, Ali Rıza, Yiş, Uluç, Hız Kurul, Semra

“…Background Inflammation and endothelial dysfunction are the suggested underlying mechanisms in migraine. Pentraxins, C‐reactive protein, erythrocyte…”
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Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects by Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra

“…Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include…”
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Severe neurodevelopmental disease caused by a homozygous TLK2 variant by Töpf, Ana, Oktay, Yavuz, Balaraju, Sunitha, Yilmaz, Elmasnur, Sonmezler, Ece, Yis, Uluc, Laurie, Steven, Thompson, Rachel, Roos, Andreas, MacArthur, Daniel G, Yaramis, Ahmet, Güngör, Serdal, Lochmüller, Hanns, Hiz, Semra, Horvath, Rita

“…A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or…”
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Pediatric Pseudotumor Cerebri Syndrome Secondary to Superior Sagittal Sinus Thrombosis Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Infection and Brief Literature Review by Mehmet Can Yeşilmen, Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Özsoy, Semra Hız Kurul, Elif Yaşar, Uluç Yiş

“…Pseudotumor cerebri syndrome (PTCS) is characterized by the presence of elevated intracranial pressure in the environment of intact brain parenchyma and…”
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Double trouble: A case of DYT-TOR1A diagnosed in the postoperative period by Uzan, Gamze, Günay, Çağatay, Kurul, Semra, Yiş, Uluç

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Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA by Karaoglu, Pakize, Quizon, Nicolas, Pergande, Matthias, Wang, Haicui, Polat, Ayşe Ipek, Ersen, Ayca, Özer, Erdener, Willkomm, Lena, Hiz Kurul, Semra, Heredia, Raúl, Yis, Uluç, Selcen, Duygu, Çirak, Sebahattin

“…Abstract Background Dropped head syndrome is an easily recognizable clinical presentation of Lamin A/C -related congenital muscular dystrophy. Patients usually…”
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The fate of spikes in self-limited epilepsy with centrotemporal spikes: Are clinical and baseline EEG features effective? by Günay, Çağatay, Sarikaya Uzan, Gamze, Özsoy, Özlem, Hiz Kurul, Semra, Yiş, Uluç

“…The aim of this study is to evaluate the effects of clinical and electroencephalographic features on spike reduction with a focus on the first EEG…”
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Sural Sparing Pattern and Sensory Ratio as Electrodiagnostic and Prognostic Markers in Pediatric Guillain-Barré Syndrome by Günay, Çağatay, Sarıkaya Uzan, Gamze, Hız Kurul, Semra, Yiş, Uluç

“…We aimed to evaluate the presence of sural sparing pattern (SSP) and sensory ratio in pediatric Guillain-Barré syndrome (GBS), their distribution to subtypes,…”
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Evaluation of the Pediatric Neurology Consultations Requested from the Pediatric Emergency Service: A Single-Center Experience by Çağatay Günay, Cem Paketçi, Gamze Sarıkaya Uzan, Didem Soydemir, Önder Karakaya, Duygu Elitez, Semra Hız Kurul, Uluç Yiş

“…Objective: Pediatric neurology opinion is one of the most frequently requested consultations in emergency service practice. Symptoms and/or signs such as…”
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Hyperoxic exposure leads to cell death in the developing brain by Yiş, Uluç, Kurul, Semra Hız, Kumral, Abdullah, Cilaker, Serap, Tuğyan, Kazım, Genç, Şermin, Yılmaz, Osman

“…Abstract Premature infants have high incidence of motor and cognitive impairment in later life. Supraphysiological oxygen concentrations are routinely used in…”
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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases by Hiz Kurul, Semra, Oktay, Yavuz, Töpf, Ana, Szabó, Nóra Zs, Güngör, Serdal, Yaramis, Ahmet, Sonmezler, Ece, Matalonga, Leslie, Yis, Uluc, Schon, Katherine, Paramonov, Ida, Kalafatcilar, İpek Polat, Gao, Fei, Rieger, Aliz, Arslan, Nur, Yilmaz, Elmasnur, Ekinci, Burcu, Edem, Pinar Pulat, Aslan, Mahmut, Özgör, Bilge, Lochmüller, Angela, Nair, Ashwati, O'Heir, Emily, Lovgren, Alysia K, Maroofian, Reza, Houlden, Henry, Polavarapu, Kiran, Roos, Andreas, Müller, Juliane S, Hathazi, Denisa, Chinnery, Patrick F, Laurie, Steven, Beltran, Sergi, Lochmüller, Hanns, Horvath, Rita

“…Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe…”
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Posterior reversible leukoencephalopathy syndrome with spinal cord involvement in a 9-year-old girl by Yiş, Uluç, Karaoğlu, Pakize, Kurul, Semra Hız, Soylu, Alper, Çakmakçi, Handan, Kavukçu, Salih

“…Abstract We report the youngest pediatric case of posterior reversible leukoencephalopathy syndrome confined to brainstem and spinal cord. At presentation…”
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Electroclinical and Demographic Evaluation of Cases with Selflimited Epilepsy with Centrotemporal Spikes by Meryem BADEM, Gamze SARIKAYA UZAN, Semra HIZ KURUL

“…Objective: This study aims to contribute to our understanding of unknown aspects of this syndrome by evaluating the characteristics of patients with rolandic…”
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Expanding the genotypic and phenotypic spectrum of the SPTBN4 gene mutation: A new variant and dysmorphology by Günay, Çağatay, Onay, Hüseyin, Bademkıran, Fikret, Hız Kurul, Semra, Yiş, Uluç

“…Congenital hypotonia and neuropathy caused by SPTBN4 mutation are the core findings of a newly defined rare syndrome: Neurodevelopmental disorder with…”
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Risk Factors of Post-Stroke Epilepsy in Children; Experience from a Tertiary Center and a Brief Review of the Literature by Polat, İpek, Yiş, Uluç, Ayanoğlu, Müge, Okur, Derya, Edem, Pınar, Paketçi, Cem, Bayram, Erhan, Hız Kurul, Semra

“…•Post-stroke epilepsy is reported more frequently in pediatric stroke patients.•Seizure in the early period is the most important risk factor.•A low vitamin D…”
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Clinical predictors of drug-resistant epilepsy in children by KARAOĞLU, Pakize, YİŞ, Uluç, POLAT, Ayşe İpek, AYANOĞLU, Müge, HIZ, Semra

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Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey by Özsoy, Özlem, Cinleti, Tayfun, Günay, Çağatay, Sarıkaya Uzan, Gamze, Giray Bozkaya, Özlem, Çağlayan, Ahmet Okay, Hız Kurul, Semra, Yiş, Uluç

“…Background Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synaptic, post-synaptic…”
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Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease by Gungor, Serdal, Oktay, Yavuz, Hiz, Semra, Aranguren-Ibáñez, Álvaro, Kalafatcilar, Ipek, Yaramis, Ahmet, Karaca, Ezgi, Yis, Uluc, Sonmezler, Ece, Ekinci, Burcu, Aslan, Mahmut, Yilmaz, Elmasnur, Özgör, Bilge, Balaraju, Sunitha, Szabo, Nora, Laurie, Steven, Beltran, Sergi, MacArthur, Daniel G., Hathazi, Denisa, Töpf, Ana, Roos, Andreas, Lochmuller, Hanns, Vernos, Isabelle, Horvath, Rita

“…Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (γ-tubulin) complex have been previously…”
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Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels by Sarıkaya Uzan, Gamze, Yılmaz Uzman, Ceren, Çinleti, Tayfun, Günay, Çağatay, Ülgenalp, Ayfer, Hiz Kurul, Semra, Yiş, Uluç

“…Introduction: Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders. We aimed to share the diagnostic yield of…”
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Immunization status of patients with spinal muscular atrophy receiving nusinersen therapy by Yeşilmen, Mehmet Can, Günay, Çağatay, Sarıkaya Uzan, Gamze, Özsoy, Özlem, Hız Kurul, Semra, Yiş, Uluç

“…Children with chronic neurological diseases, including spinal muscular atrophy (SMA), are particularly susceptible to vaccine-preventable infections. We aimed…”
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