• A Qualitative Study on Corporal Punishment And Emotionally Abusive Disciplinary Practices Among Mothers of Children With Adhd 

      Evinc, S. Gulin; Ozdemir, Dilsad Foto; Karadag, Ferda; Akdemir, Devrim; Gencoz, Tulin; Surucu, Ozlem; Unal, Fatih (Taylor & Francis Ltd, 2018)
      OBJECTIVES: The present study aimed to investigate actual disciplinary behaviours of Turkish mothers' in the context of relational environment and to investigate ADHD as a risk factor on abusive disciplinary practices. ...
    • Cognitive And Behavioral Impairment In Mild Hyperphenylalaninemia 

      Evinc, S. Gulin; Pektas, Emine; Foto-Ozdemir, Dilsad; Yildiz, Yilmaz; Karaboncuk, Yamac; Bilginer-Gurbuz, Berrak; Dursun, Ali; Tokatli, Aysegul; Coskun, Turgay; Oktem, Ferhunde; Sivri, H. Serap (Turkish J Pediatrics, 2018)
      As elevated phenylalanine (Phe) is detrimental to brain functions, determining a safe upper limit of blood Phe is important for initiation of treatment plans and setting Phe targets in hyperphenlalaninemic patients. It is ...
    • Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients 

      Torun, Başak; Bilgin, Ahmet; Orhan, Diclehan; Göcmen, Rahsan; Sara Kılıc, Sebnem; Kuskonmaz, Baris (2022-03)
      Abstract Background: Allogeneic hematopoietic stem cell transplantation (HSCT) alters the diversity of the intestinal bacterial microbiota. This study aimed to evaluate human mycobiota composition pre-HSCT and post-HSCT ...
    • Dysregulation in Children: Origins and Implications From Age 5 to Age 28 

      McQuillan, Maureen E.; Kultur, Ebru C.; Bates, John E.; O'Reilly, Lauren M.; Dodge, Kenneth A.; Lansford, Jennifer E.; Pettit, Gregory S. (Cambridge Univ Press, 2018)
      Research shows that childhood dysregulation is associated with later psychiatric disorders. It does not yet resolve discrepancies in the operationalization of dysregulation. It is also far from settled on the origins and ...
    • Ergen Bağlanma Biçimlerinin Tematik Uyaranlara Verilen Öyküsel Tepkiler Aracılığıyla Değerlendirilmesi 

      Tuzun, Zeynep; Soygut, Gonca (Turkiye Sinir Ve Ruh Sagligi Dernegi, 2017)
      Objective: The aim of this research is to develop a new protocol with a projective test and qualitative assessment approach for investigating mental representations effective for the formation of attachment styles and to ...
    • Human Intracellular Isg15 Prevents Interferon-Alpha/Beta Over-Amplification And Auto-Inflammation 

      Zhang, Xianqin; Bogunovic, Dusan; Payelle-Brogard, Beatrice; Francois-Newton, Veronique; Speer, Scott D.; Yuan, Chao; Volpi, Stefano; Li, Zhi; Sanal, Ozden; Mansouri, Davood; Tezcan, Ilhan; Rice, Gillian I.; Chen, Chunyuan; Mansouri, Nahal; Mahdaviani, Seyed Alireza; Itan, Yuval; Boisson, Bertrand; Okada, Satoshi; Zeng, Lu; Wang, Xing; Jiang, Hui; Liu, Wenqiang; Han, Tiantian; Liu, Delin; Ma, Tao; Wang, Bo; Liu, Mugen; Liu, Jing-Yu; Wang, Qing K.; Yalnizoglu, Dilek; Radoshevich, Lilliana; Uze, Gilles; Gros, Philippe; Rozenberg, Flore; Zhang, Shen-Ying; Jouanguy, Emmanuelle; Bustamante, Jacinta; Garcia-Sastre, Adolfo; Abel, Laurent; Lebon, Pierre; Notarangelo, Luigi D.; Crow, Yanick J.; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent; Pellegrini, Sandra (Nature Publishing Group, 2015)
      Intracellular ISG15 is an interferon (IFN)-alpha/beta-inducible ubiquitin-like modifier which can covalently bind other proteins in a process called ISGylation; it is an effector of IFN-alpha/beta-dependent antiviral ...
    • Identification Of A New Locus For A Peculiar Form Of Congenital Muscular Dystrophy With Early Rigidity Of The Spine, On Chromosome 1P35-36 

      Moghadaszadeh, B; Desguerre, I; Topaloglu, H; Muntoni, FN; Pavek, S; Sewry, C; Mayer, M; Fardeau, M; Tome, FMS; Guicheney, P (Univ Chicago Press, 1998)
      Classical congenital muscular dystrophies (CMDs) are autosomal recessive neuromuscular disorders characterized by early onset of hypotonia and weakness, atrophy of limbs and trunk muscles, contractures, and dystrophic ...
    • Impaired Amino Acid Transport At The Blood Brain Barrier Is A Cause Of Autism Spectrum Disorder 

      Tarlungeanu, Dora C.; Deliu, Elena; Dotter, Christoph P.; Kara, Majdi; Janiesch, Philipp Christoph; Scalise, Mariafrancesca; Galluccio, Michele; Tesulov, Mateja; Morelli, Emanuela; Sonmez, Fatma Mujgan; Bilguvar, Kaya; Ohgaki, Ryuichi; Kanai, Yoshikatsu; Johansen, Anide; Esharif, Seham; Ben-Omran, Tawfeg; Topcu, Meral; Schlessinger, Avner; Indiveri, Cesare; Duncan, Kent E.; Caglayan, Ahmet Okay; Gunel, Murat; Gleeson, Joseph G.; Novarino, Gaia (Cell Press, 2016)
      Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a ...
    • International Comparisons of Behavioral and Emotional Problems in Preschool Children: Parents' Reports from 24 Societies 

      Rescorla, Leslie A.; Achenbach, Thomas M.; Ivanova, Masha Y.; Harder, Valerie S.; Otten, Laura; Bilenberg, Niels; Bjarnadottir, Gudrun; Capron, Christiane; De Pauw, Sarah S. W.; Dias, Pedro; Dobrean, Anca; Doepfner, Manfred; Duyme, Michel; Eapen, Valsamma; Erol, Nese; Esmaeili, Elaheh Mohammad; Ezpeleta, Lourdes; Frigerio, Alessandra; Fung, Daniel S. S.; Goncalves, Miguel; Guomundsson, Halldor; Jeng, Suh-Fang; Jusiene, Roma; Kim, Young Ah; Kristensen, Solvejg; Liu, Jianghong; Lecannelier, Felipe; Leung, Patrick W. L.; Machado, Barbara Cesar; Montirosso, Rosario; Oh, Kyung Ja; Ooi, Yoon Phaik; Plueck, Julia; Pomalima, Rolando; Pranvera, Jetishi; Schmeck, Klaus; Shahini, Mimoza; Silva, Jaime R.; Simsek, Zeynep; Sourander, Andre; Valverde, Jose; van der Ende, Jan; Van Leeuwen, Karla G.; Wu, Yen-Tzu; Yurdusen, Sema; Zubrick, Stephen R.; Verhulst, Frank C. (Routledge Journals, Taylor & Francis Ltd, 2011)
      International comparisons were conducted of preschool children's behavioral and emotional problems as reported on the Child Behavior Checklist for Ages 11/2-5 by parents in 24 societies (N=19,850). Item ratings were ...
    • Intraspinal Lipomas without Associated Spinal Dysraphism 

      Arslan, Erhan; Kuzeyli, Kayhan; Acar Arslan, Elif (2014)
      Introduction: The aim of this study was to report surgical strategies and clinical outcomes for thoraco-lumbar intradural lipomas. Intraspinal lipomas are rare congenital histologically benign neoplasms, which account for ...
    • Joubert Syndrome: A Model for Untangling Recessive Disorders with Extreme Genetic Heterogeneity 

      Bachmann-Gagescu, R.; Dempsey, J. C.; Phelps, I. G.; O'Roak, B. J.; Knutzen, D. M.; Rue, T. C.; Ishak, G. E.; Isabella, C. R.; Gorden, N.; Adkins, J.; Boyle, E. A.; de Lacy, N.; O'Day, D.; Alswaid, A.; Ramadevi, Radha A.; Lingappa, L.; Lourenco, C.; Martorell, L.; Garcia-Cazorla, A.; Ozyurek, H.; Haliloglu, G.; Tuysuz, B.; Topcu, M.; Chance, P.; Parisi, M. A.; Glass, I. A.; Shendure, J.; Doherty, D. (Bmj Publishing Group, 2015)
      Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain ...
    • L-2-Hydroxyglutaric Aciduria: Identification of a Mutant Gene C14Orf160, Localized on Chromosome 14Q22.1 

      Topcu, M; Jobard, F; Halliez, S; Coskun, T; Yalcinkayal, C; Gerceker, FO; Wanders, RJA; Prud'homme, JF; Lathrop, M; Ozguc, M; Fischer, J (Oxford Univ Press, 2004)
      l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid ...
    • Maternal Brain Response to Own Baby-Cry Is Affected by Cesarean Section Delivery 

      Swain, James E.; Tasgin, Esra; Mayes, Linda C.; Feldman, Ruth; Constable, R. Todd; Leckman, James F. (Wiley-Blackwell, 2008)
      A range of early circumstances surrounding the birth of a child affects peripartum hormones, parental behavior and infant wellbeing. One of these factors, which may lead to postpartum depression, is the mode of delivery: ...
    • Molecular Cytogenetic Analysis And Resequencing Of Contactin Associated Protein-Like 2 In Autism Spectrum Disorders 

      Bakkaloglu, Betul; O'Roak, Brian J.; Louvi, Angeliki; Gupta, Abha R.; Abelson, Jesse E.; Morgan, Thomas M.; Chawarska, Katarzyna; Klin, Ami; Ercan-Sencicek, A. Gulhan; Stillman, Althea A.; Tanriover, Gamze; Abrahams, Brett S.; Duvall, Jackie A.; Robbins, Elissa M.; Geschwind, Daniel H.; Biederer, Thomas; Gunel, Murat; Lifton, Richard P.; State, Matthew W. (Cell Press, 2008)
      Autism spectrum disorders (ASD) are a group of related neurodevelopmental syndromes with complex genetic etiology.(1) We identified a de novo chromosome 7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and ...
    • Neurobiology Of Tourette Syndrome 

      Unal, Dilek; Akdemir, Devrim (Turkiye Sinir Ve Ruh Sagligi Dernegi, 2016)
      Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. ...
    • Propofol and Intralipid Interact with Reactive Oxygen Species: A Chemiluminescence Study 

      Demiryürek, A.T; Cinel, I; Kahraman, S; Tecder-Ünal, M; Gögüş, N; Aypar, Ü; Kanzik, I. (1998)