Search Results - "Yaramis, Ahmet"

Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder by Yıldız, Yılmaz, Göçmen, Rahşan, Yaramış, Ahmet, Coşkun, Turgay, Haliloğlu, Göknur

“…Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental disorder in childhood. Although inborn errors of metabolism (IEM) are…”
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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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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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A variety of abnormal movements in 13 cases with nutritional cobalamin deficiency in infants by Yaramis, Ahmet

“…Abnormal movements such as tremor, myoclonus, and choreoathetosis due to infantile nutritional vitamin B12 (Cbl, cobalamin) deficiency or after Cbl injection…”
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Brainstem involvement in subacute sclerosing panencephalitis by Yaramis, Ahmet, Taskesen, Mustafa

“…Subacute sclerosing panencephalitis (SSPE), which usually develops 2-10 years after measles infection, is a progressive neurologic disorder with an insidious…”
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Nutritional megaloblastic anemia in young Turkish children is associated with vitamin B-12 deficiency and psychomotor retardation by Katar, Selahattin, Nuri Ozbek, Mehmet, Yaramiş, Ahmet, Ecer, Sultan

“…We aimed to investigate the presence of psychomotor retardation, physical and laboratory examination in infants with megaloblastic anemia. Inclusion criteria…”
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Clinical features of nine patients with alternating hemiplegia of childhood by Tatlı, Burak, Aydınlı, Nur, Çalışkan, Mine, Özmen, Meral, Kara, Bülent, Yaramış, Ahmet, Dilber, Cengiz, Yılmaz, Kutluhan, Küçükuğurluoğlu, Yasemin, Ekici, Barış

“…Aim:  To define clinical features of patients with alternating hemiplegia of childhood. Methods:  We retrospectively reviewed the clinical presentation and…”
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Cerebral vasculitis and obsessive-compulsive disorder following varicella infection in childhood by Yaramiş, Ahmet, Hergüner, Sabri, Kara, Bülent, Tatli, Burak, Tüzün, Umran, Ozmen, Meral

“…Varicella is largely a childhood disease, with more than 90% of cases occurring in children younger than 10 years. The primary infection is characterized by…”
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Chest computerized tomography scan findings in 74 children with tuberculous meningitis in southeastern Turkey by Yaramiş, Ahmet, Bükte, Yaşar, Katar, Selahattin, Ozbek, M Nuri

“…This prospective study was done over seven years from 1996 to 2003 to investigate the chest computed tomography scan findings along with other radiologic…”
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Infantile iatrogenic Cushing's syndrome by Katar, Selahattin, Akdeniz, Sedat, Ozbek, M Nuri, Yaramiş, Ahmet

“…High potency or/and extended use of topical corticosteroids, particularly in children, may cause suppression of the hypothalamopituitary-adrenal axis. However,…”
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Infantile iatrogenic cushing′s syndrome by Katar, Selahattin, Akdeniz, Sedat, Ozbek, MNuri, Yaramis, Ahmet

“…High potency or/and extended use of topical corticosteroids, particularly in children, may cause suppression of the hypothalamopituitary-adrenal axis. However,…”
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Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome by O'Connor, Emily, Töpf, Ana, Müller, Juliane S, Cox, Daniel, Evangelista, Teresinha, Colomer, Jaume, Abicht, Angela, Senderek, Jan, Hasselmann, Oswald, Yaramis, Ahmet, Laval, Steven H, Lochmüller, Hanns

“…Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the…”
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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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Central Nervous System Tuberculosis in Children: A Review of 214 Cases by Yaramis, Ahmet, Gurkan, Fuat, Elevli, Murat, Soker, Murat, Haspolat, Kenan, Kirbas, Gokhan, Tas, M. Ali

“…To study the clinical, laboratory, and treatment features observed in pediatric patients with tuberculous meningitis in Turkey. Study Design. Retrospective…”
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A Randomized Trial of Granulocyte-Macrophage Colony-Stimulating Factor in Neonates With Sepsis and Neutropenia by MD, Kemal Bilgin, Yaramis, Ahmet, Haspolat, Kenan, Tas, M. Ali, Gunbey, Sacit, Derman, Orhan

“…To determine whether adjunctive therapy with recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) could reverse sepsis-associated…”
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Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing by Kancheva, Daliya, Atkinson, Derek, De Rijk, Peter, Zimon, Magdalena, Chamova, Teodora, Mitev, Vanyo, Yaramis, Ahmet, Maria Fabrizi, Gian, Topaloglu, Haluk, Tournev, Ivailo, Parma, Yesim, Battaloglu, Esra, Estrada-Cuzcano, Alejandro, Jordanova, Albena

“…Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are…”
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Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity by Matalonga, Leslie, Laurie, Steven, Papakonstantinou, Anastasios, Piscia, Davide, Mereu, Elisabetta, Bullich, Gemma, Thompson, Rachel, Horvath, Rita, Pérez-Jurado, Luis, Riess, Olaf, Gut, Ivo, van Ommen, Gert-Jan, Lochmüller, Hanns, Beltran, Sergi, Renieri, Alessandra, Dursun, Ali, Matilla-Duenas, Antoni, Cormand, Bru, Rivolta, Carlo, Ayuso, Carmen, Espinós, Carmen, Scerri, Christian, Yalnizoglu, Dilek, Soler, Doriette, Morava, Eva, Barbetti, Fabrizio, Forzano, Francesca, Mari, Francesca, Muntoni, Francesco, Tort, Frederic, Houlden, Henry James, Tejada, Maria-Isabel, Senderek, Jan, Benitez, Javier, De La Calle, Javier Corral, Serra, Jordi, Millán, José Ma, Segovia, Jose, Gimeno Blanes, Juan Ramon, Armstrong, Judith, Ozgul, Koksal, Vilarinho, Laura, Montoliu, Lluis, Posada, Manuel, Mencarelli, Maria Antonietta, Mora, Marina, Bianchi, Paola, Seeman, Pavel, Elliott, Perry M., Ferlini, Alessandra, Brice, Alexis, Wirth, Brunhilde, Hanna, Mike, Tabrizi, Sarah, Klockgether, Thomas, Timmerman, Vincent, Straub, Volker, Kurul, Semra Hiz, Oktay, Yavuz, Gungor, Serdal, Yaramis, Ahmet, Yis, Uluc, Macaya, Alfons, Ribes, Antonia, Pujol, Aurora, Lázaro, Conxi, Grinberg, Daniel, Tizzano, Eduardo, Cardellach, Francesc, Palau, Francesc, Milà, Montse, Gallano, Pia, Artuch, Rafael, MartiSeves, Ramon, Villanueva, Gonzalo, Vidal, Silvia, Garrabou, Gloria, Balcells, Susanna, Urreizti, Roser, López, Estrella, Cuscó, Ivon, Valenzuela, Irene, Sabater, Maria

“…Autozygosity is associated with an increased risk of genetic rare disease, thus being a relevant factor for clinical genetic studies. More than 2400 exome…”
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Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study by Günay, Çağatay, Aykol, Duygu, Özsoy, Özlem, Sönmezler, Ece, Hanci, Yaren Sena, Kara, Bülent, Akkoyunlu Sünnetçi, Deniz, Cine, Naci, Deniz, Adnan, Özer, Tolgahan, Ölçülü, Cemile Büşra, Yilmaz, Özlem, Kanmaz, Seda, Yilmaz, Sanem, Tekgül, Hasan, Yildiz, Nihal, Acar Arslan, Elif, Cansu, Ali, Olgaç Dündar, Nihal, Kusgoz, Fatma, Didinmez, Elif, Gençpinar, Pınar, Aksu Uzunhan, Tuğçe, Ertürk, Biray, Gezdirici, Alper, Ayaz, Akif, Ölmez, Akgün, Ayanoğlu, Müge, Tosun, Ayşe, Topçu, Yasemin, Kiliç, Betül, Aydin, Kürşad, Çağlar, Ezgi, Ersoy Kosvali, Özlem, Okuyaz, Çetin, Besen, Şeyda, Tekin Orgun, Leman, Erol, İlknur, Yüksel, Deniz, Sezer, Abdullah, Atasoy, Ergin, Toprak, Ülkühan, Güngör, Serdal, Ozgor, Bilge, Karadağ, Meral, Dilber, Cengiz, Şahinoğlu, Bahtiyar, Uyur Yalçin, Emek, Eldes Hacifazlioglu, Nilüfer, Yaramiş, Ahmet, Edem, Pınar, Gezici Tekin, Hande, Yilmaz, Ünsal, Ünalp, Aycan, Turay, Sevim, Biçer, Didem, Gül Mert, Gülen, Dokurel Çetin, İpek, Kirik, Serkan, Öztürk, Gülten, Karal, Yasemin, Sanri, Aslıhan, Aksoy, Ayşe, Polat, Muzaffer, Özgün, Nezir, Soydemir, Didem, Sarikaya Uzan, Gamze, Ülker Üstebay, Döndü, Gök, Ayşen, Yeşilmen, Mehmet Can, Yiş, Uluç, Karakülah, Gökhan, Bursali, Ahmet, Oktay, Yavuz, Hiz Kurul, Semra

“…Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be…”
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Role and Clinical Significance of Plasma N-Terminal Brain Natriuretic Peptide Measurement in Children with Brain Edema by Taskesen, Mustafa, Celik, Hasan, Yaramis, Ahmet, Tas, Mehmet A

“…Brain natriuretic peptide (BNP) is a potent natriuretic and vasodilator factor. BNP plasma concentrations were found to be elevated in patients with brain…”
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COL4A1-related autosomal recessive encephalopathy in 2 Turkish children by Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, Aysenur, Horvath, Rita, Oktay, Yavuz

“…This study presents the neurologic phenotypes of 2 brothers with a novel homozygous mutation that was identified in a large Turkish consanguineous cohort of…”
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