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134 results on '"Haliloğlu, Göknur"'

1. Evaluation of a girl with 16p13.11 microduplication syndrome according to the International Classification of Functioning, Disability and Health Perspectives

Author

Fidan Hande, Kerem Günel Mintaze, Haliloğlu Göknur, Ütine Gülen Eda, and Kiper Pelin Özlem Şimşek

Subjects
16p13.11 microduplication syndrome, icf, activity, participation, environmental factors, Medicine (General), R5-920
Abstract

Objective: To present the functional status of a child with 16p13.11 microduplication syndrome by evaluating it under the International Classification of the World Health Organization's International Framework for Functioning, Disability and Health (ICF). Case Description: An 11-year-old girl with 16p13.11 microduplication syndrome was assessed using the tools classified according to ICF for Children and Youth (ICF-CY) categories to evaluate body function, activity participation, and environmental factors.There was a wide range of problems, from body functions to activity participation and environmental factors. Besides these problems, there were social and cognitive disorders as well. Conclusion: Physical and cognitive problems in body function and activity together constitute great barriers to participation in daily life.

Published
2022
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4. Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.

Author

Günbey, Ceren, Çavdarlı, Büşranur, Göçmen, Rahşan, Yazıcı, Muharrem, Temuçin, Çağrı Mesut, Özdemir, Özkan, Çırak, Sebahattin, and Haliloğlu, Göknur

Subjects
DIFFUSION tensor imaging, SPINE abnormalities, MAGNETIC resonance imaging, HEARING disorders, TURKS
Abstract

Objective: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive disorder resulting from axonal midline crossing defect due to variants in ROBO3. Methods: We retrospectively evaluated demographics, clinical phenotype, course of spinal deformities, and neuroimaging findings of six Turkish patients with HGPPS. We performed targeted gene testing by next‐generation sequencing. Results: The median age at symptom onset and diagnosis was 1.5 years (0.5–4), and 11 years (2–16), respectively. Oculomotor signs were the most common presenting symptom (n = 4), followed by scoliosis (n = 2). The course of scoliosis was progressive and accompanied by kyphosis, showed intrafamilial variability, and was corrected surgically in three of the patients. Intellectual disability (n = 4), hypergonadotropic hypogonadism (n = 2), hearing loss (n = 2), and tranisent movement disorders (n = 1) were additional features. Targeted gene sequencing revealed five distinct homozygous variants. Of the four novel variants, two of them were located in the acceptor site of the noncoding region of the gene, remaining two were missense and frameshift variants, located in immunoglobulin‐like domain‐2, and cytoplasmic signaling motif 2, respectively. Structural magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) showed the absence of decussation of superior cerebellar peduncle and dorsal transverse pontine fibers. Interpretation: Spectrum of HGPPS is further expanded with novel variants in the ROBO3 with clinical and radiological fingerprints. Spinal deformities require close orthopedic screening and individualized approach. Intellectual disability and hearing loss emerge as additional features. Hypogonadism and transient subtle movement disorders require further attention and confirmation from other series. [ABSTRACT FROM AUTHOR]

Published
2024
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7. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain

Author

Smeets, Hubert, primary, Verbrugge, Bram, additional, Bulbena, Xavier, additional, Hristova, Liliya, additional, Vogt, Julia, additional, van Beckhoven, Isabelle, additional, Allamand, Valérie, additional, Almekinders, Josephine, additional, Barquinero, Jordi, additional, Berreur, Séverine, additional, Bönnemann, Carsten, additional, Bouman, Karlijn, additional, de Bruin, Laura, additional, Caron, Leslie, additional, Damon, Céline, additional, Durbeej, Madeleine, additional, Feijen, Doris, additional, Foley, Reghan, additional, Goncalves, Ana Rita, additional, Camelo, Clara Gontijo, additional, Güell, Marc, additional, Haliloğlu, Göknur, additional, Kemaladewi, Dwi, additional, Klein, Andrea, additional, Koleda, Nastia, additional, Minko, Olga, additional, Munell, Francina, additional, Nebermann, Tim, additional, Pini, Veronica, additional, Previtali, Stefano, additional, Roos, Andreas, additional, Rüegg, Markus, additional, Sarkozy, Anna, additional, Seferian, Andrea, additional, Smeets, Hubert, additional, Stepniewski, Jacek, additional, van Straten, Emma, additional, van Tienen, Florence, additional, Quijano-Roy, Susana, additional, Voermans, Nicol, additional, West, Alexia, additional, Yurchenco, Peter, additional, Moy, Justin, additional, Almeida, Cristina, additional, Becker, Johannes, additional, and Gill, Louise, additional

Published
2024
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10. Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2and PCDH12Variants

Author

Ürel-Demir, Gizem, Başer, Burak, Göçmen, Rahşan, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda, and Haliloğlu, Göknur

Abstract

Introduction:Diencephalic-mesencephalic junction dysplasia syndrome is a rare neurogenetic disorder reported to be caused by variants in several genes. Phenotypic presentation is characterized by clinical findings including developmental delay, hypotonia, spasticity, and dyskinetic movements in combination with distinctive imaging features on brain magnetic resonance imaging (MRI). Methods:Whole exome sequencing was conducted to unveil the molecular etiology of patients presenting with neurological manifestations from two unrelated families. Results:To the best of our knowledge, here we report the third family affected with diencephalic-mesencephalic junction dysplasia caused by a novel variant in GSX2and two siblings with a PCDH12variant exhibiting a less severe phenotype. The siblings with a PCDH12variant were positioned at the milder end of the phenotypic spectrum. Although both exhibited a clinical phenotype resembling cerebral palsy, one showed partial fusion of the hypothalamus and mesencephalon, whereas MRI was unremarkable in the other. Biallelic GSX2variants have been implicated in basal ganglia agenesis, and similarly, our patients had basal ganglia hypoplasia along with hypothalamic-mesencephalic fusion. Conclusion:Identifying variants associated with the syndrome in different genes will contribute to genotype-phenotype correlation.

Published
2024
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11. Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey

Author

Ersak, Ayşe Şenol, primary, Çak, Halime Tuna, additional, Yıldız, Yılmaz, additional, Çavdar, Merve Kaşıkcı, additional, Tunç, Sıla, additional, Özer, Nagihan, additional, Zeltner, Nina A., additional, Huemer, Martina, additional, Tokatlı, Ayşegül, additional, and Haliloğlu, Göknur, additional

Published
2023
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14. Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes

Author

Yılmaz, Ünsal, primary, Gücüyener, Kıvılcım, additional, Yavuz, Merve, additional, Öncel, İbrahim, additional, Canpolat, Mehmet, additional, Saltık, Sema, additional, Ünver, Olcay, additional, Çıtak Kurt, Ayşegül Neşe, additional, Tosun, Ayşe, additional, Yılmaz, Sanem, additional, Özgör, Bilge, additional, Erol, İlknur, additional, Öztoprak, Ülkühan, additional, Elitez, Duygu Aykol, additional, Direk, Meltem Çobanoğulları, additional, Bodur, Muhittin, additional, Teber, Serap, additional, Anlar, Banu, additional, Yılmaz, Ünsal, additional, Saltik, Sema, additional, Aykol, Duygu, additional, Yıldız, Edibe Pembegül, additional, Yarar, Coşkun, additional, Kara, Bülent, additional, Haspolat, Şenay, additional, İncecik, Faruk, additional, Kutluk, Gültekin, additional, Dilber, Cengiz, additional, Dundar, Nihal Olgac, additional, Tan, Hüseyin, additional, Demir, Ercan, additional, Dursun, Büşra Daşlı, additional, Dilek, Tuğçe Damla, additional, Türkdoğan, Dilşad, additional, Yalnızoğlu, Dilek, additional, Akbaş, Salih, additional, Güleç, Ayten, additional, Yılmaz, Deniz, additional, Ayanoğlu, Müge, additional, Kanmaz, Seda, additional, Güngör, Serdal, additional, Öztürk, Gülten, additional, Beşen, Şeyda, additional, Haliloğlu, Göknur, additional, Karaca, Nazlı Balcan, additional, Öztürk, Selcan, additional, Yüksel, Deniz, additional, Gürkaş, Esra, additional, Oktay, Seçil, additional, Serin, Hepsen Mine, additional, Karadağ, Meral, additional, Hakkı Akbeyaz, İsmail, additional, Yiş, Uluç, additional, Polat, Burçin Gönüllü, additional, Okan, Mehmet Sait, additional, Bektaş, Ömer, additional, Orgun, Leman Tekin, additional, Günbey, Ceren, additional, Per, Hüseyin, additional, Gültutan, Pembe, additional, Öztürk, Semra Büyükkorkmaz, additional, Aksoy, Erhan, additional, Akyüz, Gülcan, additional, Tekgül, Hasan, additional, Kürekçi, Fulya, additional, Kurul, A. Semra Hız, additional, Çarman, Kürşat Bora, additional, Alikılıç, Defne, additional, Duman, Özgür, additional, Kömür, Mustafa, additional, Yıldırım, Miraç, additional, Alıcı, Nurettin, additional, Gümüş, Hakan, additional, Polat, Muzaffer, additional, Konuşkan, Bahadır, additional, Güngör, Olcay, additional, Mert, Gülen Gül, additional, Edizer, Selvinaz, additional, Mıhçı, Filiz, additional, Öztürk, Sedef Terzioğlu, additional, Toker, Rabia Tütüncü, additional, Arslan, Mutluay, additional, Şahin, Sevim, additional, Gencpinar, Pinar, additional, Yıldırım, Elif, additional, Yüksel, Ersin, additional, Ekici, Arzu, additional, Deniz, Adnan, additional, Yayici Köken, Özlem, additional, Okuyaz, Çetin, additional, Süt, Nurşah Yeniay, additional, Atasoy, Ergin, additional, Solmaz, İsmail, additional, Yetkin, Mehmet Fatih, additional, Bilgin, Neslihan, additional, Atasever, Aslı Kübra, additional, Tekin, Hande Gazeteci, additional, Dokurel, İpek, additional, Özçelik, Aysima, additional, Aksoy, Ayşe, additional, Türköz, Ayşe Nur, additional, Cavusoglu, Dilek, additional, Özkan, Mehbare, additional, Tekin, Emine, additional, Şahin, Türkan Uygur, additional, Ünalp, Aycan, additional, Koç, Habibe, additional, Sarıgeçili, Esra, additional, Sarıtaş, Serdar, additional, Ayça, Senem, additional, Kayılıoğlu, Hülya, additional, Şenoğlu, Mine Çiğdem, additional, Kamaşak, Tülay, additional, Asadova, Nargis, additional, Keskin, Filiz, additional, Karaoğlu, Pakize, additional, İpek, Rojan, additional, and Acer, Hamit, additional

Published
2022
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17. Managing CLN2 disease:a treatable neurodegenerative condition among other treatable early childhood epilepsies

Author

Mazurkiewicz-Bełdzińska, Maria, del Toro, Mireia, Haliloğlu, Göknur, Huidekoper, Hidde H., Kravljanac, Ružica, Mühlhausen, Chris, Andersen, Brian Nauheimer, Prpić, Igor, Striano, Pasquale, Auvin, Stéphane, Mazurkiewicz-Bełdzińska, Maria, del Toro, Mireia, Haliloğlu, Göknur, Huidekoper, Hidde H., Kravljanac, Ružica, Mühlhausen, Chris, Andersen, Brian Nauheimer, Prpić, Igor, Striano, Pasquale, and Auvin, Stéphane

Abstract

Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegenerative condition, which is usually fatal by mid-adolescence. Seizures are one of the most common early symptoms of CLN2 disease, but patients often experience language deficits, movement disorders, and behavioral problems. Diagnosis of CLN2 disease is challenging (particularly when differentiating between early-onset developmental, metabolic, or epileptic syndromes), and diagnostic delays often overlap with rapid disease progression. An enzyme replacement therapy (cerliponase alfa) is now available, adding CLN2 disease to the list of potentially treatable disorders requiring a prompt diagnosis. Areas covered: Although advances in enzymatic activity testing and genetic testing have facilitated diagnoses of CLN2 disease, our review highlights the presenting symptoms that are vital in directing clinicians to perform appropriate tests or seek expert opinion. We also describe common diagnostic challenges and some potential misdiagnoses that may occur during differential diagnosis. Expert opinion: An awareness of CLN2 disease as a potentially treatable disorder and increased understanding of the key presenting symptoms can support selection of appropriate tests and prompt diagnosis. The available enzyme replacement therapy heralds an even greater imperative for early diagnosis, and for clinicians to direct patients to appropriate diagnostic pathways.

Published
2021

20. Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features

Author

Kındış, Erdem, primary, Simsek‐Kiper, Pelin Özlem, additional, Koşukcu, Can, additional, Taşkıran, Ekim Z., additional, Göçmen, Rahşan, additional, Utine, Eda, additional, Haliloğlu, Göknur, additional, Boduroğlu, Koray, additional, and Alikaşifoğlu, Mehmet, additional

Published
2021
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21. Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies

Author

Mazurkiewicz-Bełdzińska, Maria, primary, del Toro, Mireia, additional, Haliloğlu, Göknur, additional, Huidekoper, Hidde H., additional, Kravljanac, Ružica, additional, Mühlhausen, Chris, additional, Andersen, Brian Nauheimer, additional, Prpić, Igor, additional, Striano, Pasquale, additional, and Auvin, Stéphane, additional

Published
2021
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27. The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome: a case report.

Author

Lokmanoğlu, Bilge Nur Yardımcı, Mutlu, Akmer, Livanelioğlu, Ayşe, and Haliloğlu, Göknur

Abstract

Background. Cri du chat syndrome (CdCS) is a rare orphan genetic disorder. Infants with CdCS have a neurodevelopmental dysfunction, but there are limited studies on their spontaneous movements or effect of the early interventions in children with CdCS. This study aimed to describe early spontaneous movements and investigate the effects of an early intervention in an infant with the CdCS. Case. We analyzed the detailed general movements assessment (GMA) of an infant with CdCS at 14 weeks, and the Bayley Scales of Infant and Toddler Development-third edition (Bayley-III) were used for the determining and the follow-up of developmental functioning at 14 weeks, 6 months and 12 months. The infant was included in an early intervention beginning from 14 weeks. Fidgety movements were absent. The motor repertoire appeared significantly reduced, and the movement character was monotonous at 14 weeks. Although the infant achieved some developmental milestones with the early intervention program, the improvements were not reflected in the Bayley-III composite score. Conclusions. As a consequence, abnormal GMA results, including fidgety movements and concurrent movement patterns, seen in CdCS can be associated with early signs of neurodevelopmental dysfunction. Early intervention programs in infants with genetic disorders could help enable the early achievement of motor milestones. [ABSTRACT FROM AUTHOR]

Published
2021
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29. Further expanding the phenotype of anti-Ku antibody associated disease in children and adolescents.

Author

Batu, Ezgi Deniz, Şener, Seher, Haliloğlu, Göknur, Talim, Beril, Şener, Burçin, Şahiner, Ümit Murat, Bilginer, Yelda, Orhan, Diclehan, Aydıngöz, Üstün, and Özen, Seza

Subjects
*DERMATOMYOSITIS, *CONTRACTURE (Pathology), *MUSCLE weakness, *CHILD patients, *CALCINOSIS, *PHENOTYPES
Abstract

• Anti-Ku positivity is rarely found in autoimmune inflammatory diseases. • In this largest pediatric case series, we reported four anti-Ku positive patients. • The disease phenotype was idiopathic inflammatory myopathy (IIM) and chronic urticaria. • Muscle histopathology in anti-Ku positive IIM patients revealed necrosis, regeneration, and inflammation. • Our study will provide diversity to the clinical spectrum of anti-Ku antibodies. Anti-Ku autoantibodies are associated with several autoimmune inflammatory diseases. We aimed to review our anti-Ku positive pediatric patients in this study. Four pediatric patients (all female) who had anti-Ku positivity were included (Patients 1–2–3 with idiopathic inflammatory myopathy (IIM); Patient 4 with chronic urticaria). Patient 1 (onset:10.5 years) had proximal muscle weakness, Raynaud phenomenon, sclerodactyly, hyperpigmentation, joint contracture, and tenosynovitis. The disease course was progressive despite treatment with corticosteroids, intravenous immunoglobulin (IVIG), plasma exchange, and 11 different immunosuppressive drugs. Patient 2 (onset:15 years) presented with proximal muscle weakness, fatigue, weight loss. She recovered normal muscle strength after treatment with corticosteroids, IVIG, methotrexate, cyclosporine A, mycophenolate mofetil. Patient 3 (onset:10 years) had juvenile dermatomyositis with proximal muscle weakness, Gottron's papules, and calcinosis. She also had anti-NXP2 positivity. Remission was achieved with corticosteroids, methotrexate, azathioprine, and infliximab. Muscle biopsy findings revealed a variable spectrum of necrosis, regeneration, perifascicular pattern, and inflammation. Patient 4 had only chronic urticaria (onset: 6.5 years). The striking features of this series were heterogeneity in clinical presentations including solely chronic urticaria and IIM; variable response to immunosuppressive treatments; and histopathology revealing a spectrum of necrosis, regeneration and inflammatory infiltration. Expanding the spectrum of anti-Ku positivity will allow better understanding of anti-Ku-associated phenotype clusters. [ABSTRACT FROM AUTHOR]

Published
2024
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30. Colaboradores

Author

Abidi, Nadia Y., Abzug, Mark J., Adams, David R., Adams, Nicholas S., Adelson, Stewart L., Ahlfeld, Shawn K., Ahmad, Osman Z., Aiken, John J., Akdis, Cezmi A., Alessandrini, Evaline A., Alexander, Michael A., Ali, Omar, Anderson, Karl E., Anthony, Kelly K., Antoon, Alia Y., Apkon, Susan D., Ardoin, Stacy P., Arkader, Alexandre, Armangué, Thaís, Arndt, Carola A.S., Aronson, Paul L., Asher, David M., Ashworth, Ann, Assa, Amit, Asselin, Barbara L., Astley, Christina M., Ater, Joann L., Atkinson, Norrell, Augustine, Erika U., Augustyn, Marilyn C., Avitzur, Yaron, Bacino, Carlos A., Bailey, Zinzi D., Balakrishnan, Binod, Balamuth, Frances B., Baldassano, Robert N., Baldwin, Keith D., Bales, Christina, Balistreri, William F., Ballantine, Allison, Baltimore, Robert S., Balwani, Manisha, Bamba, Vaneeta, Banwell, Brenda L., Barclay, Sarah F., Barnes-Davis, Maria E., Barron, Karyl S., Basel, Donald, Bass, Dorsey M., Bassett, Mary T., Bauerfeld, Christian P., Baum, Rebecca A., Bell, Michael J., Bender, Nicole R., Benjamin, Daniel K., Jr, Bennett, Michael J., Bernstein, Daniel, Bernstein, Henry H., Bharucha-Goebel, Diana X., Biggs, Holly M., Blanchard, Samra S., Blatter, Joshua A., Bleyer, Archie, Blum, Nathan J., Boas, Steven R., Bockting, Walter O., Boguniewicz, Mark, Boivin, Michael J., Bonthius, Daniel J., Bordini, Brett J., Bosse, Kristopher R., Bostwick, Bret L., Boyer, Kenneth M., Brady, Jennifer M., Brady, Patrick W., Brady, Rebecca C., Brady, Samuel L., Brandow, Amanda M., Breault, David T., Breuner, Cora Collette, Bridgemohan, Carolyn, Britt, William J., Brower, Laura, Brown, Rebeccah L., Brownell, J. Naylor, Browning, Meghen B., Brunetti-Pierri, Nicola, Bryant, Phillip R., Buckley, Rebecca H., Budek, Cynthia Etzler, Bunyavanich, Supinda, Burnham, Carey-Ann D., Burstein, Gale R., Bustinduy, Amaya L., Buyon, Jill P., Cabada, Miguel M., Cada, Michaela, Caglar, Derya, Cairo, Mitchell S., Calello, Diane P., Camarda, Lauren E., Cameron, Lindsay Hatzenbuehler, Camitta, Bruce M., Campbell, Angela J.P., Carlin, Rebecca F., Carr, Michael R., Carrigan, Robert B., Carroll, Michael S., Carter, Rebecca G., Caserta, Mary T., Chapman, Jennifer I., Cheifetz, Ira M., Chelimsky, Gisela G., Chelimsky, Thomas C., Chemaitilly, Wassim, Chen, Yuan-Tsong, Chiriboga, Jennifer A., Chiu, Yvonne E., Cho, Christine B., Chong, Hey Jin, Chou, Stella T., Christenson, John C., Chun, Robert H., Chusid, Michael J., Cieslak, Theodore J., Claes, Donna J., Clark, Jeff A., Clemens, John David, Coates, Thomas D., Coffin, Susan E., Cohen, Joanna S., Cohen, Mitchell B., Cohen-Wolkowiez, Michael, Colbert, Robert A., Cole, F. Sessions, III, Collaco, J. Michael, Colombo, John L., Congeni, Joseph A., Conner, Lindsay N., Creighton, Sarah M., Crowe, James E., Jr, Czinn, Steven J., Dalal, Aarti S., Dalmau, Josep O., Danziger-Isakov, Lara A., Darville, Toni, Daum, Robert S., Davidson, Loren T., Davidson, Richard S., Davies, H. Dele, Daw, Najat C., Dean, Shannon L., Toro, Helen M. Oquendo Del, DeMaso, David R., Denison, Mark R., Dent, Arlene E., Desnick, Robert J., Deterding, Robin R., Devarajan, Prasad, deVeber, Gabrielle A., Dhar, Vineet, Dhawan, Anil, Dick, André A.S., Dietz, Harry C., III, Diiorio, Daren A., DiMeglio, Linda A., Dixon, Bradley P., Dlamini, Nomazulu, Dodhia, Sonam N., Donohoue, Patricia A., Downes, Kevin J., Doyle, Alexander J., Doyle, Daniel A., Doyle, Jefferson J., Dreskin, Stephen C., Driscoll, Sherilyn W., Dror, Yigal, D'souza, Jill N., Dubowitz, Howard, Dumler, J. Stephen, Duncan, Janet, Dvergsten, Jeffrey A., Earing, Michael G., Eberly, Matthew D., Eddy, S. Derrick, Egan, Marie E., Elder, Jack S., Englander, Elizabeth, Enlow, Elizabeth, Eppes, Stephen C., Ericson, Jessica, Erkan, Elif, Ermias, Yokabed, Eskew, Ashley M., Etzel, Ruth A., Fahrenkopf, Matthew P., Falk, Marni J., Faria, John J., Fargo, John H., Feemster, Kristen A., Feigelman, Susan, Feinstein, Jeffrey A., Feldman, Amy G., Felner, Eric I., Fels, Edward C., Feng, Sing-Yi, Ferkol, Thomas W., Jr, Finberg, Karin E., Finder, Jonathan D., Finkelstein, Laura H., Fiorino, Kristin N., Fischer, Philip R., Fisher, Brian T., Flood, Veronica H., Flores, Francisco X., Flynn, Joseph T., Flynn, Patricia M., Forman, Joel A., Frank, Michael M., Frenck, Robert W., Jr, Friedman, Deborah M., Friehling, Erika, Fritz, Stephanie A., Frush, Donald P., Gadomski, Anne M., Gaensbauer, James T., Gahagan, Sheila, Gahl, William A., Gallagher, Patrick G., Gans, Hayley A., Garcia-mauriño, Cristina, Gardiner, Paula M., Garibaldi, Luigi R., Gauthier, Gregory M., Gerber, Jeffrey S., Gershon, Anne A., Ghadersohi, Saied, Gibson, Mark, Gigliotti, Francis, Gilliam, Walter S., Ginde, Salil, Girotto, John A., Goldfarb, Samuel B., Goldman, David L., Goldman, Stanton C., Goldstein, Neal D., Goldstein, Stuart L., Gonzalez-Heydrich, Joseph, Goodman, Denise M., Goodman, Tracy S., Gordon, Catherine M., Gordon, Leslie B., Goto, Collin S., Gower, W. Adam, Goyal, Neera K., Goyeneche, Nicholas P., Graepel, Kevin W., Graham, Robert J., Greally, John M., Green, Cori M., Green, Michael, Greenbaum, Larry A., Greenbaum, V. Jordan, Greenberg, James M., Griffiths, Anne G., Grizzle, Kenneth L., Groner, Judith A., Guarino, Alfredo, Gurria, Juan P., Guz-Mark, Anat, Haddad, Gabriel G., Haddad, Joseph, Jr, Hagan, Joseph F., Jr, Hagood, James S., Haider, Suraiya K., Haliloglu, Goknur, Halstead, Scott B., Hammer, Allison R., Hammerschlag, Margaret R., Hamvas, Aaron, Harris, James C., Harrison, Douglas J., Hartman, Corina, Hartman, Mary E., Haslam, David B., Hassan, H. Hesham Abdel-Kader, Hauck, Fern R., Havers, Fiona P., Hayes, Ericka V., Hecht, Jacqueline T., Heidemann, Sabrina M., Heimall, Jennifer R., Hemingway, Cheryl, Hendley, J. Owen, Hernandez, Michelle L., Hershey, Andrew D., Herzog, Cynthia E., Hirner, Jesse P., Hochberg, Jessica, Hodes, Deborah, Hoefgen, Holly R., Holinger, Lauren D., Holland-Hall, Cynthia M., Hooper, David K., Hoover-Fong, Julie E., Hord, Jeffrey D., Horn, B. David, Horstmann, Helen M., Horton, William A., Hotez, Peter J., House, Samantha A., Hsu, Evelyn, Hsu, Katherine, Huang, Felicia A. Scaggs, Huddleston, Heather G., Huepenbecker, Sarah P., Huff, Vicki, Huh, Winston W., Humphrey, Stephen R., Hunger, Stephen P., Hunstad, David A., Hunt, Carl E., Huppert, Stacey S., Huppler, Anna R., Ibeziako, Patricia I., Ibrahim, Samar H., Jackson, Allison M., Jackson, Elizabeth C., Jackson, Mary Anne, Jaffe, Ashlee, Janowski, Andrew B., Jatlaoui, Tara C., Jelsing, Elena J., Jensen, M. Kyle, Jenssen, Brian P., Jerardi, Karen E., John, Chandy C., Johnston, Brian D., Johnston, Michael V., Johnston, Richard B., Jr, Jones, Bridgette L., Joselow, Marsha, Josephson, Cassandra D., Jospe, Nicholas, Joyce, Joel C., Kabbouche, Marielle A., Kacperski, Joanne, Kamat, Deepak, Kamath-Rayne, Beena D., Kansra, Alvina R., Kanter, David M., Karlin, Aaron M., Kattan, Jacob, Kazura, James W., Kearns, Gregory L., Kelly, Andrea, Kelly, Desmond P., Kelly, Kevin J., Kelly, Matthew S., Kelly, Michael, Ken, Kimberly M., Kennedy, Melissa A., Kerem, Eitan, Kerschner, Joseph E., Khan, Seema, Khatami, Ameneh, Khatua, Soumen, Kilinsky, Alexandra, Kim, Chong-Tae, Kim, Wendy E., King, Charles H., Kingma, Paul S., Kinsman, Stephen L., Kishnani, Priya S., Klein, Bruce L., Klein, Bruce S., Kliegman, Robert M., Koch, William C., Kochanek, Patrick M., Kodish, Eric, Kohlhoff, Stephan A., Kostic, Mark A., Kotloff, Karen L., Krane, Elliot J., Krause, Peter J., Kreipe, Richard E., Krug, Steven E., Kwiatkowski, Janet L., Kwon, Jennifer M., Lachenauer, Catherine S., Ladisch, Stephan, Lakser, Oren J., Landrigan, Philip J., Landry, Gregory L., Lane, Wendy G., Larson, A. Noelle, LaRussa, Phillip S., Lawrence, J. Todd R., Lee, Brendan, Lee, K. Jane, Leeder, J. Steven, Leiding, Jennifer W., Lentze, Michael J., Lestrud, Steven O., Leung, Donald Y.M., Levas, Michael N., Levy, Rona L., Li, B U.K., Liacouras, Chris A., Liebig, Christopher W., Lipkin, Paul H., Liptzin, Deborah R., Liu, Andrew H., Lo, Lucinda, Lo, Stanley F., Long, Kathleen A., Long, Sarah S., Lopez, Anna Lena, Lopez, Santiago M.C., Lossef, Steven V., Lowry, Jennifer A., Macumber, Ian R., Magnusson, Mark R., Magoulas, Pilar L., Mahajan, Prashant V., Majzoub, Joseph A., Mann, Robert J., Manoli, Irini, Maqbool, Asim, Maranich, Ashley M., Marcantuono, Nicole, Margolis, David, Marin, Mona, Marini, Joan C., Markello, Thomas C., Markowitz, Morri, Maroushek, Stacene R., Marsh, Justin D., Martin, Kari L., Martinez, Maria G., Mason, Wilbert H., Maalon, Reuben K., Matta, Sravan Kumar Reddy, Maybank, Aletha, Mazor, Robert L., McAllister, Jennifer, McCabe, Megan E., McClean, Megan E., McColley, Susanna A., McGann, Patrick T., McGovern, Margaret M., McGrath-Morrow, Sharon A., McKinney, Jeffrey S., McLaughlin, Matthew J., McLeod, Rima, Mejias, Asuncion, Melby, Peter C., Melzer-Lange, Marlene D., Merguerian, Matthew D., Merhar, Stephanie L., Merritt, Diane F., Messacar, Kevin, Michaels, Marian G., Michniacki, Thomas F., Mikati, Mohad A., Milgrom, Henry, Mink, Jonathan W., Mistovich, R. Justin, Mitchell, Jonathan A., Mitsnefes, Mark M., Mohandas, Sindhu, Moon, Rachel Y., Moran, Joan P., Morava, Eva, Moreno, Megan A., Morgan, Esi, Morrison, Peter E., Moseley, Lovern R., Mozer-Glassberg, Yael, Muglia, Louis J., Murphy, Kevin P., Murphy, Timothy F., Murray, Karen F., Murray, Thomas S., Narula, Sona, Natale, Mindo J., Nathan, Amy T., Navsaria, Dipesh, Neal, William A., Nehme, Grace, Nehus, Edward J., Nelson, Maureen R., Neri, Caitlin M., Neuman, Mark I., Nevin, Mary A., Newburger, Jane W., NewMark, Jonathan, Nield, Linda S., Niss, Omar, Noah, Zehava L., Nocton, James J., Nogee, Lawrence M., Noje, Corina, Norton, Laura E., Nowak-Węgrzyn, Anna, Obaro, Stephen K., Obeid, Makram M., O’Brien, Hope L., Okwo-Bele, Jean-Marie, Oleszek, Joyce L., Olitsky, Scott E., Olsson, John M., Ombrello, Amanda K., O’Neill, Meghan E., Onigbanjo, Mutiat T., Orenstein, Walter A., Orscheln, Rachel C., Osorio, Marisa, Otto, Christian A., Owens, Judith A., Özen, Seza, Pachter, Lee M., Padhye, Amruta, Pak-Gorstein, Suzinne, Panganiban, Jennifer, Pappas, Diane E., Parent, John J., Parker, Alasdair P.J., Parks, Elizabeth Prout, Patterson, Briana C., Patterson, Maria Jevitz, Peters, Anna L., Peters, Timothy R., Phelan, Rachel A., Pinto, Anna, Poindexter, Brenda B., Pollard, Andrew J., Preciado, Diego, Proctor, Mark R., II, Howard I. Pryor, Pyles, Lee A., Quinn, Molly, Quint, Elisabeth H., Rabatin, Amy E., Rabinovich, C. Egla, Raffini, Leslie J., Ralston, Shawn L., Ram, Sanjay, Ramilo, Octavio, Ramirez, Kacy A., Rand, Casey M., Ratner, Adam J., Ratner, Lee, Raymond, Gerald V., Reed, Ann M., Reif, Shimon, Reller, Megan E., Reuter, Caroline H., Reyes, Jorge D., Rinawi, Firas, Ritchey, A. Kim, Rivara, Frederick P., Robinette, Eric, Robinson, Angela Byun, Rodrigues, Kristine Knuti, Rodriguez-Buritica, David F., Rodríguez-Fernández, Rosa, Roosevelt, Genie E., Rosenberg, David R., Roskind, Cindy Ganis, Ross, A. Catharine, Rossano, Joseph W., Rothman, Jennifer A., Rozenfeld, Ranna A., Ryan, Colleen A., Ryan, Monique M., Ryu, Julie, Sachdev, H.P.S., Sadarangani, Manish, Sadun, Rebecca E., Sahin, Mustafa, Sainath, Nina N., Salata, Robert A., Salvana, Edsel Maurice T., Sampson, Hugh A., Samsel, Chase B., Sandora, Thomas J., Sandritter, Tracy L., Sankar, Wudbhav N., Sarkissian, Eric J., Sarnaik, Ajit A., Sarnaik, Ashok P., Sarnat, Harvey B., Schaffzin, Joshua K., Schanberg, Laura E., Schechter, Michael S., Schleiss, Mark R., Schor, Nina F., Schroeder, James W., Jr, Schulte, Elaine E., Schuster, Mark A., Scott, Daryl A., Scott, J. Paul, Scott, John P., Seed, Patrick C., Serwint, Janet R., Shah, Apurva S., Shah, Dheeraj, Shah, Samir S., Shaikhkhalil, Ala, Shamir, Raanan, Shanti, Christina M., Shapiro, Bruce K., Shaughnessy, Erin E., Shaywitz, Bennett A., Shaywitz, Sally E., Shchelochkov, Oleg A., Sheanon, Nicole M., Shneider, Benjamin L., Shulman, Stanford T., Sicherer, Scott H., Simms, Mark D., Simmons, Jeffery M., Simões, Eric A.F., Simonsen, Kari A., Sinclair-McBride, Keneisha, Sivaraman, Vidya, Slavotinek, Anne M., Smith, Jessica R., Smith, Stephanie H., Smith-Whitley, Kim, Son, Mary Beth F., Sosinsky, Laura Stout, Souder, Emily, Spahn, Joseph D., Spearman, Paul, Sperling, Mark A., Spiegel, David A., Spitzer, Jaclyn B., Spranger, Jürgen W., Squires, James E., Srivastava, Siddharth, Geme, Joseph W. St, III, Stallings, Amy P., Stallings, Virginia A., Stambough, Kathryn C., Stanberry, Lawrence R., Stanley, Charles A., Starke, Jeffrey R., Starr, Taylor B., Steenhoff, Andrew P., Stein, Ronen E., Steinbach, William J., Stewart, Janet, Storch, Gregory A., Strauss, Ronald G., Sucato, Gina S., Suchy, Frederick J., Suhrie, Kristen R., Sullivan, Kathleen E., Szilagyi, Moira, Tabbah, Sammy M., Tanz, Robert R., Tarango, Cristina, Tarek, Nidale, Tasker, Robert C., Tchapyjnikov, Dmitry, Tesini, Brenda L., Theobald, Jillian L., Thielen, Beth K., Thomas, Anita A., Thomas, Cameron W., Thornburg, Courtney D., Tieder, Joel S., Tifft, Cynthia J., Todd, James K., Tolentino, Victor R., Jr, Toro, Camilo, II, Richard L. Tower, Trapasso, Joseph M., Troncone, Riccardo, Tsao, Elaine, Tubergen, David G., Tuchman, Lisa K., Turk, Margaret A., Turner, David A., Ullrich, Christina, Ullrich, Nicole, Upadhya, Krishna K., Urion, David K., Valika, Taher, Van Hare, George F., Van Mater, Heather A., Varnell, Charles D., Jr, Vaughan, Ana M., Vece, Timothy J., Vemana, Aarthi P., Venditti, Charles P., Vepraskas, Sarah, Verbsky, James W., Vermilion, Jennifer A., Vickery, Brian P., Vitola, Bernadette E., Voynow, Judith A., Wagner, Jonathan B., Waguespack, Steven G., Walker, David M., Walkovich, Kelly J., Walter, Heather J., Wambach, Jennifer A., Wang, Julie, Wangler, Michael F., Ware, Russell E., Ware, Stephanie M., Washam, Matthew C., Wassner, Ari J., Wattier, Rachel, Weber, David R., Weese-Mayer, Debra E., Weinberg, Jason B., Weinman, Jason P., Weise, Kathryn L., Weiss, Anna K., Weiss, Pamela F., Weitzman, Carol, Welebir, Morgan P., Wells, Lawrence, Wen, Jessica W., Wendel, Danielle, Werlin, Steven L., Wessels, Michael R., Wetmore, Ralph F., Wexelblatt, Scott L., Wexler, Isaiah D., Clinton White, A., Jr, White, Perrin C., Williams, John V., Willoughby, Rodney E., Jr, Wilschanski, Michael, Wilson, Karen M., Wilson, Pamela, Winell, Jennifer J., Winnie, Glenna B., Wissow, Lawrence, Witters, Peter, Wolf, Joshua, Wolfgram, Peter M., Wolfe, Joanne, Woods, Brandon T., Wright, Benjamin L., Wright, Joseph L., Wright, Terry W., Wu, Eveline Y., Yagupsky, Pablo, Yeh, E. Ann, Yeshokumar, Anusha K., Zaky, Wafik, Zapata, Lauren B., Zeltzer, Lonnie K., Zhou, Amy, and Zuckerman, Barry S.

Published
2020
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31. Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights

Author

Yiş, Uluç, primary, Becker, Kerstin, additional, Kurul, Semra Hız, additional, Uyanik, Gökhan, additional, Bayram, Erhan, additional, Haliloğlu, Göknur, additional, Polat, Ayşe İpek, additional, Ayanoğlu, Müge, additional, Okur, Derya, additional, Tosun, Ayşe Fahriye, additional, Serdaroğlu, Gül, additional, Yilmaz, Sanem, additional, Topaloğlu, Haluk, additional, Anlar, Banu, additional, Cirak, Sebahattin, additional, and Engel, Andrew G., additional

Published
2017
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33. 9th International Congress on Psychopharmacology & 5th International Symposium on Child and Adolescent Psychopharmacology

Author

Şahmelikoğlu Onur, Özge, primary, Çukurova, Merve, additional, Bağ, Sevda, additional, Yalçın, Suat, additional, Çakır Şen, Cansu, additional, Karşıdağ, Çağatay, additional, Süleyman Can, Serdar, additional, Tuğçe Akçaer, Emine, additional, Taşdelen Kul, Ayşegül, additional, İspir, Mustafa, additional, Bakkal, Osman, additional, Algül, Ayhan, additional, Ebrinç, Servet, additional, Yükselir, Cihad, additional, Zincir, Serkan, additional, Öztürk, Pelin, additional, Karaahmetoğlu, Bülent, additional, Baş, Özlem, additional, Şahmelikoğlu Onur, Özge, additional, Ulukaya, Sema, additional, Soykan, Çağlar, additional, Çayköylü, Ali, additional, Yazar, Neslihan, additional, Başar Kocagöz, Zehra, additional, Özçetin, Adnan, additional, Bahar Ölmez, Safiye, additional, Ataoğlu, Ahmet, additional, Hasan Balcioglu, Yasin, additional, Demir Berkol, Tonguc, additional, Ekim Cevik, Filiz, additional, Oncu, Fatih, additional, Ozgen, Guliz, additional, Demiröz, Dudu, additional, Yardım Özayhan, Hatice, additional, Seven, Hilal, additional, Çağrı Yıldız, Mustafa, additional, Başaran, Recep, additional, Eren, İbrahim, additional, Özlem Canazlar, Elif, additional, Sevinçok, Levent, additional, Doğan, Bilge, additional, Öykü Memiş, Çağdaş, additional, Baran Tanrikulu, Ali, additional, İnanli̇, İkbal, additional, Çağri̇ Yi̇ldi̇z, Mustafa, additional, Şerife Elmas, Tuba, additional, Eren, Ibrahim, additional, Alperen Korkmaz, Şükrü, additional, Pınar Şen, Cansu, additional, Fatih Ceylan, Mehmet, additional, Hesapçıoğlu, Selma Tural, additional, Bakar, Burcu, additional, Tuncer, Can, additional, Yeni Elbay, Rümeysa, additional, Görmez, Aynur, additional, Tokgöz, Yusuf, additional, Bolu, Abdullah, additional, Çelik, Cemil, additional, Uzun, Özcan, additional, Kirlioglu, Simge Seren, additional, Balcioglu, Yasin Hasan, additional, Aydin, Pinar Cetinay, additional, Uğurlu, Mustafa, additional, Uğurlu, Görkem Karakaş, additional, Akçaer, Emine Tuğçe, additional, Can, Serdar Süleyman, additional, Koç, Zuhal, additional, Kapubağlı, Nazlı, additional, Tuncer, Ömer Faruk, additional, Ünlü, Gülsen, additional, Şahin, Esra Kabadayı, additional, Apaydın, Zuhal Koç, additional, Kaymak, Semra Ulusoy, additional, Peker, Oğuz, additional, Özkan, Bedriye, additional, Kılıçoğlu, Ali Güven, additional, Karaçetin, Gül, additional, Yücehan, Zeynep, additional, Elmas, Tuğba Şerife, additional, Yağlı, Nafiye, additional, İlhan, Bilge Çetin, additional, Aker, Derya Adali, additional, Kıvılcım, Yiğit, additional, Solmaz, Mustafa, additional, Kutlu, Yeşim Ruhat, additional, Yeşil, Bahar, additional, Almış, Behice Han, additional, Küçük, Başak, additional, Cerit, Cem, additional, Sarici, Burcu, additional, Kaypak, Ayşe Ceren, additional, Baysak, Erensu, additional, Ergün, Serhat, additional, Yildiz, Mesut, additional, Ibiloglu, Aslihan Okan, additional, Atli, Abdullah, additional, Asoglu, Mehmet, additional, Ozkan, Mustafa, additional, Memik, Nursu Çakın, additional, Ünver, Hatice, additional, Gündoğdu, Özlem Yıldız, additional, Uzun, Necati, additional, Akça, Ömer Faruk, additional, Aral, Gizem, additional, Aykut, Demet Sağlam, additional, Maden, Özgür, additional, Gündoğmuş, İbrahim, additional, Gok, Fulya, additional, Kiraz, Seda, additional, Cipil, Arif, additional, Eroglu, Meliha Zengin, additional, Çiftçi, Elvan, additional, Aslan, Zeynep, additional, Gül, Melike Kevser, additional, Taştepe, Neslihan, additional, Demirci, Esra, additional, Özmen, Sevgi, additional, Doğru, Hicran, additional, Karayağmurlu, Elif, additional, Karayağmurlu, Ali, additional, Göksu, Muhsine, additional, Tügen, Leyla Ezgi, additional, Ayaz, Ayşe Burcu, additional, Arman, Ayşe, additional, Özayhan, Hatice Yardım, additional, Altunova, Deniz, additional, Yıldız, Mustafa Çağrı, additional, Atagün, Murat İlhan, additional, Kul, Ayşegül Taşdelen, additional, Güldaş, Ekrem, additional, Göl, Güler, additional, Savcı, Uğur, additional, Tufan, Ali Evren, additional, Özbek, Seda Yıldırım, additional, Özbek, Süleyman, additional, Uygur, Hilal, additional, Demirel, Başak, additional, Esra Çiçek, İ., additional, Kara, Hüseyin, additional, Balcı, Mehmet Murat, additional, Karaca, Servet, additional, Kuloğlu, Mehmet Murat, additional, Aytaç, Hasan Mervan, additional, Ger, Mehmet Can, additional, İbiloğlu, Aslıhan Okan, additional, Asoğlu, Mehmet, additional, Çakır, Ayşe, additional, Tiryaki, Ahmet, additional, Çelme, Gülşah Güçlü, additional, Boztaş, Mehmet Hamid, additional, Sırmatel, Fatma, additional, Erdogan, Mucahid, additional, Dayan, Cengiz, additional, Atakli, Hayrunisa Dilek, additional, Kartalcı, Gülşen, additional, Yücel, Ebru, additional, Kartalcı, Şükrü, additional, Eroğlu, Meliha Zengin, additional, Çipil, Arif, additional, Çalışkan, Mecit, additional, Çavusoglu, Emine Cengiz, additional, Özdemir, Yusuf Özay, additional, Elmas, Tuba Şerife, additional, Fındıklı, Ebru, additional, Şahin, Berkan, additional, Karabekiroğlu, Koray, additional, Kurt, Mustafa, additional, Memiş, Çağdaş Öykü, additional, Sevinçok, Doğa, additional, Sertdemir, Merve, additional, Ay, Rukiye, additional, Yılmaz, Nevzat, additional, Demirkaya, Sevcan Karakoç, additional, Aksu, Hatice, additional, Gizem Gerçek, Hacer, additional, Karakoç, Gülser, additional, Altıntoprak, Ayşe Ender, additional, Coşkunol, Hakan, additional, Yazici, Ipek Percinel, additional, Utku Yazici, Kemal, additional, Altıntaş, Kevser, additional, Gök, Fulya, additional, Yaylacı, Ferhat, additional, Erkuran, Handan Özek, additional, Eyüboğlu, Murat, additional, Göverti, Diğdem, additional, Yüksel, Rabia Nazik, additional, Bülbül, Alper, additional, Aydemir, Makbule Çiğdem, additional, Göka, Erol, additional, Kınalı, Ilgaz, additional, Hacıoğlu, Münevver Yıldırım, additional, Sarıcı, Burcu, additional, Sayar, Kemal, additional, Doğan, Hatice, additional, Akay, Ömer, additional, Kim, Heecheol, additional, Lee, Hyunjoo, additional, Karagöz, Abdulkadir, additional, Kullakçı, Hakan, additional, Duman, Yasin, additional, Çokünlü, Yusuf, additional, Aydın, Memduha, additional, Tanrıkulu, Ali Baran, additional, Eren, İbrahım, additional, Taner, Hande Ayraler, additional, Sarı, Burcu Akın, additional, Yektaş, Çiğdem, additional, Samurcu, Nuran Demir, additional, Çalışır, Saliha, additional, Ekinci, Özalp, additional, Tan, Muhammet Emin, additional, Kalınlı, Merve, additional, Kıyançiçek, Murat, additional, Küçükdağ, Meltem, additional, Gül, Hasret Karabulut, additional, Uysal, Emel, additional, Arslan, Filiz Civil, additional, Karagüzel, Evrim Özkorumak, additional, Karakök, Burak, additional, Çak, Halime Tuna, additional, Çankaya, Pınar Kızılay, additional, Altun, İlkay Keleş, additional, Abatan, Eren, additional, Çalışkan, Ali Metehan, additional, Çakı, Hatice Kübra, additional, Doğangün, Burak, additional, Kadak, Muhammed Tayyib, additional, Kefeli, Mehmet, additional, Arıcı, Asiye, additional, Altun, Hatice, additional, Acıpayam, Can, additional, Bayhan, Pelin Çon, additional, Sungur, Elif Nurgül, additional, İnci Kenar, Ayşe Nur, additional, Ersoy, Sevde Afife, additional, Gürok, Mehmet Gürkan, additional, Yildiz, Sevler, additional, Korucu, Tuba, additional, Keles, Denizhan Danaci, additional, Atmaca, Murad, additional, Hoşoğlu, Esra, additional, Kılınç, Kübra, additional, Şen, Barış, additional, Örnek, Erdem, additional, Çelebi, Cengiz, additional, Kani, Ayşe Sakallı, additional, Yanartaş, Ömer, additional, Şenkal, Zeynep, additional, Akvardar, Yıldız, additional, Kora, Kaan, additional, Egilmez, Ümran, additional, Kandeğer, Ali, additional, Güler, Özkan, additional, Yazici, Kemal Utku, additional, Kösker, Selcen Dogru, additional, Budak, Elif Ates, additional, Karasin, Zeliha Deveci, additional, Güleken, Mehmet Diyaddin, additional, Celik, Mustafa, additional, Yıldırım, Hande, additional, Güler, Burçin, additional, Veznedaroğlu, Baybars, additional, Lale, Funda, additional, Çak Esen, Halime Tuna, additional, Haliloğlu, Göknur, additional, Ekinci, Nuran, additional, Bilgili, Gamze Özçürümez, additional, Seneger, Volkan, additional, Elbay, Rümeysa Yeni, additional, Işık, Ümit, additional, Aşut, Gonca, additional, Yaylacı, Elif Tatlıdil, additional, Asan, Ömer, additional, Güneş, Serkan, additional, Çiftçi, Ebru, additional, Yaşar, Sehure Azra, additional, İnanlı, İkbal, additional, Sertçelik, Sencan, additional, Avci, Selma Hilal, additional, Yaşar, Alişan Burak, additional, Karatepe, Hasan Turan, additional, Dönmez, Melike, additional, Topçuoğlu, Volkan, additional, Bilgiç, Ayhan, additional, Doğru, Volkan, additional, Bozkurt, Abdullah, additional, Kalyoncu, Tuğba, additional, Çıldır, Deniz Argüz, additional, Beşer, Can, additional, Fiş, Neşe Perdahlı, additional, Ulgar, Şermin Bilgen, additional, Ayaydın, Hamza, additional, Takatak, Hatice, additional, Ayaydin, Hamza, additional, Çobanoğlu, Cansu, additional, Müjdeci, Mahmut, additional, Gümüş, Yusuf Yasin, additional, Akbaş, Betül, additional, Sevgen, Feyza Hatice, additional, Öncü, Fatih, additional, Şahin, Nilfer, additional, Balkan, Damla, additional, Coşkun, Fatma, additional, Yılmaz, Savaş, additional, Çelikkol, Çağla, additional, Emlik, Ganime Dilek, additional, Çaksen, Hüseyin, additional, Arslan, Derya, additional, Arısoy, Özden, additional, Şair, Ahmet, additional, Şair, Yaşan Bilge, additional, Sarı, Dilek, additional, Ispir, Mustafa, additional, Algul, Ayhan, additional, Ölmeztoprak, Vuslat Kara, additional, Zayman, Esra Porgalı, additional, Ünal, Süheyla, additional, Öztürk, Ali Hakan, additional, Karabucak, Başak, additional, Çengel Kültür, Ebru Sadriye, additional, Çak Esen, Tuna Halime, additional, Özaktaç, İpek Fatma, additional, Altın, Murat, additional, Sarıdoğan, Ayşe Sena, additional, Buluş, Eser, additional, Güneş, Sevilay, additional, Koyuncu, Zehra, additional, Bingöl, Rahime Hülya, additional, Uzgel, Mine, additional, Ayas, Selahattin, additional, Kıvrak, Yüksel, additional, Şahbal, Yiğit, additional, Kocagöz, Kübra, additional, Kutlu, Gamze, additional, Baz, Ali, additional, Cansız, Mehmet Akif, additional, Kalyoncu, Tugba, additional, Sağlam, Ebru, additional, Önen, Özlem, additional, Kutlu, Ayşe, additional, Aşık, Ecenur Aydın, additional, Sapmaz, Şermin Yalın, additional, Erermiş, Serpil, additional, Şişmanlar, Şahika Gülen, additional, Karka, İsmail, additional, Kilicaslan, Fethiye, additional, Hürmeydan, Ceren Enüstün, additional, Onur, Özge Şahmelikoğlu, additional, Onur, Ozge Sahmelikoğlu, additional, Sarı, Didem Nagehan, additional, Kılıç, Bahar, additional, Kurt, Elif Merve, additional, Ak, İsmail, additional, Şevik, Ali Emre, additional, Yalçın, Ayşe Dilara, additional, Tural, Ümit, additional, Yaşar, Hilmi, additional, Korkmaz, Şükrü Alperen, additional, Karaaslan, Münir, additional, Kizilağaç, Fatih, additional, Öznur, Taner, additional, Baran Tanri̇kulu, Ali̇, additional, Yildiz, Mustafa Çağri, additional, İnanli, İkbal, additional, Öztürk, Seher Serez, additional, Özbek, Seda, additional, Çiçek, İsmet Esra, additional, Karlıdağ, Rıfat, additional, Akan, Mustafa, additional, İnce, Lara Utku, additional, Reyhani, İsmail, additional, Tetik, Dilek Çağlar, additional, Büyükaslan, Ayşe, additional, Yılanlı, Musa, additional, Cesur, Ender, additional, Belger, Fatma, additional, Başay, Bürge Kabukçu, additional, Şen, Cansu Pinar, additional, Ceylan, Mehmet Fatih, additional, Hesapcioglu, Selma Tural, additional, Teksin, Gülşen, additional, Kupeli, Nese Yorguner, additional, Ergun, Serhat, additional, Atlı, Abdullah, additional, Okan İbiloğlu, Aslıhan, additional, Akıl, Öznur, additional, and İbilioğlu, Aslıhan Okan, additional

Published
2017
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34. Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report

Author

Haliloğlu, Göknur, Donkervoort, Sandra, Yıldız, Sibel Öz, Potticary, Abigail, Hu, Ying, Pais, Lynn, Carlier, Robert Y., Amthor, Helge, Aydıngöz, Üstün, and Bönnemann, Carsten G.

Abstract

PAX7 is a myogenesis transcription factor important for satellite cell specification and function and thus involved in muscle growth, maintenance, repair and regeneration. Recently, a new autosomal recessive congenital myopathy was described that is caused by biallelic variants in PAX7. Our aim is to describe phenotype and whole-body muscle MRI with follow-up imaging findings in a patient with a novel homozygous missense variant in PAX7.We also compare our patients’ imaging features with a patient reported in the initial study, to identify a possible emerging pattern for PAX7-congenital myopathy. Generalized muscle hypotrophy and selective sternocleidomastoid, paraspinal and thigh muscle involvement emerge as suggestive findings and could serve as a recognizable fingerprint to differentiate early-onset myopathies within the emerging group of ‘primary satellite cell-opathies’.

Published
2024
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41. SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

Author

Agrawal, Pankaj B., primary, Pierson, Christopher R., additional, Joshi, Mugdha, additional, Liu, Xiaoli, additional, Ravenscroft, Gianina, additional, Moghadaszadeh, Behzad, additional, Talabere, Tiffany, additional, Viola, Marissa, additional, Swanson, Lindsay C., additional, Haliloğlu, Göknur, additional, Talim, Beril, additional, Yau, Kyle S., additional, Allcock, Richard J.N., additional, Laing, Nigel G., additional, Perrella, Mark A., additional, and Beggs, Alan H., additional

Published
2014
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42. Etiological yield of SNP microarrays in idiopathic intellectual disability

Author

Utine, G. Eda, primary, Haliloğlu, Göknur, additional, Volkan-Salancı, Bilge, additional, Çetinkaya, Arda, additional, Kiper, Pelin Ö., additional, Alanay, Yasemin, additional, Aktaş, Dilek, additional, Anlar, Banu, additional, Topçu, Meral, additional, Boduroğlu, Koray, additional, and Alikaşifoğlu, Mehmet, additional

Published
2014
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46. Childhood epilepsy with occipital paroxysm: classification, atypical evolution and long-term prognosis in 35 patients.

Author

Aksoy, Ayşe, Haliloğlu, Göknur, Yalnızoğlu, Dilek, and Turanlı, Güzide

Abstract

Ayşe Aksoy, Göknur Haliloğlu, Dilek Yalnızoğlu, Güzide Turanlı. Childhood epilepsy with occipital paroxysm: classification, atypical evolution and long-term prognosis in 35 patients. Turk J Pediatr 2015; 57: 439-452. We studied childhood epilepsy with occipital paroxysms (CEOP) with regard to typical and/or atypical ictal symptoms, EEG findings, as well as atypical evolution and outcome. This report focuses on the main clinical and EEG features of CEOP underlying its atypical symptoms and its management. Thirty-five patients with CEOP were subdivided into Panayiotopoulos syndrome (n=15), Gastaut syndrome (n=11), and mixed type (n=9). Nine patients (25%) with CEOP (mixed type) had shown atypical ictal manifestations and presented combinations of vomiting (100%) along with visual symptoms (66%), and/or eye deviation (66%), and headaches (44%). Five patients with CEOP had atypical evolution. However, the dictate for strict delineation into either the early-onset or late-onset forms of CEOP should be discarded because many children will present mixed clinical findings at varying ages. We think a detailed evaluation should be carried out as to why certain patients who apply have atypical findings, and whether each patient has age related evolution or not. [ABSTRACT FROM AUTHOR]

Published
2015

47. Conventional and advanced MR imaging in infantile Refsum disease.

Author

Kılıç, Mustafa, Karlı-Oğuz, Kader, Haliloğlu, Göknur, Topçu, Meral, Wanders, Ronald James, and Coşkun, Turgay

Abstract

We report magnetic resonance (MR) imaging findings including diffusionweighted imaging and proton MR spectroscopy findings in a patient with infantile Refsum disease. The initial diagnosis was made on the basis of history, clinical findings and biochemical studies. Bilateral and symmetrical involvement of the peritrigonal white matter, centrum semiovale, thalami, corpus callosum and corticospinal tracts as assessed by increased T2 signal was highly suggestive of a peroxisomal disorder. Facilitated diffusion was observed in diseased parenchyma. Long echo-time (TE: 270 ms) MRS showed decreased N-acetyl-aspartate/creatine and elevated choline/creatine and lactate; short echo-time MRS (TE: 30 ms) revealed increased myoinositol at 3.56 ppm and lipid peaks at 0.9 and 1.3 ppm. A major contribution to the differential diagnosis came from MR imaging and proton MRS, as discussed in this report. [ABSTRACT FROM AUTHOR]

Published
2015

49. Epileptik ensefalopatiler ve doğuştan metabolizma hastalıkları.

Author

Ünal, Özlem, Haliloğlu, Göknur, and Coşkun, Turgay

Subjects
*INBORN errors of metabolism, *METABOLIC disorders in children, *CHILDHOOD epilepsy, *MICROCEPHALY, *GENETIC disorders
Abstract

Most of the metabolic disorders can lead to neurologic disease, including neonatal epileptic encephalopathy. Sometimes, neonatal seizures may be the first sign of inborn errors of metabolism, a fact that makes them much more difficult to diagnose. Thus, a high index of suspicion is required. Distinctively, however, epilepsy secondary to inborn errors of metabolism is usually associated with other neurologic symptoms, such as microcephaly, hypotonia, or hypertonia. After exclusion of acquired causes such as structural or infectious causes, inborn errors of metabolism should always be considered in the differential diagnosis. Among the most common metabolic causes are disorders of neurotransmitter metabolism, disorders of energy production, and synthetic or catabolic disorders associated with brain malformation, dysfunction and degeneration. In most cases, epilepsy secondary to inherited metabolic disorders is characterized by polymorphic clinical and electroencephalographic features, such that they are difficult to classify into precise epileptic syndromes. However, specific types of seizures, such as myoclonic seizures, or distinctive electroencephalographic patterns, such as suppression burst patterns, epileptic syndrome or early myoclonic encephalopathy, may suggest a specific metabolic disease. Timely diagnosis and early treatment may improve the prognosis of these disorders. An early diagnosis of inborn errors of metabolism is crucial from the point of view of a favorable long-term outcome, because some of them can be treated effectively with dietary restriction or supplementation. In addition, all are inherited disorders that may recur in future pregnancies, and therefore their diagnosis allows for appropriate genetic counseling. The treatment of epileptic encephalopathies due to inborn errors of metabolism generally relies on the use of one or more anticonvulsant medications along with evaluation and management of any underlying etiology. Certain rare vitamin-responsive inborn errors of metabolism, for example, may present as neonatal encephalopathy with anticonvulsant-resistant seizures. Therefore, the clinicians caring for newborns with epileptic encephalopathy should consider these particular disorders early in the hospital course. In this review, the importance of considering inborn errors of metabolism in the differential diagnosis of epileptic encephalopathies is emphasized, and an overview of the diagnoses and treatments of inborn errors of metabolism most commonly associated with neonatal epileptic encephalopathy is given. [ABSTRACT FROM AUTHOR]

Published
2012

50. Sydenham's Chorea: A Case Report and Review of the Literature.

Author

Öncel, Eda Karadağ, Özsürekçi, Yasemin, Konuşkan, Bahadir, Haliloğlu, Göknur, Ertuğrul, İlker, Alehan, Dursun, and Kara, Ateş

Abstract

Copyright of Journal of Pediatric Infection / Çocuk Enfeksiyon Dergisi is the property of Journal of Pediatric Infection / Cocuk Enfeksiyon Dergisi and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2012
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