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Tytuł :
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.
Autorzy :
Ürel-Demir G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: .
Şimşek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Öncel İ; Department of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Haliloğlu G; Department of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 Mar 16; Vol. 32, pp. 46-55. Date of Electronic Publication: 2021 Mar 16.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies.
Autorzy :
Mazurkiewicz-Bełdzińska M; Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland.
Del Toro M; Department of Pediatric Neurology, Vall d'Hebron University Hospital, Barcelona, Spain.
Haliloğlu G; Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.
Kravljanac R; Institute for Mother and Child Healthcare of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Mühlhausen C; Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.
Andersen BN; Department of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
Prpić I; Faculty of Medicine, Clinical Hospital Centre Rijeka, University of Rijeka, Rijeka, Croatia.
Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
Auvin S; Pediatric Neurology Department, Rare Epilepsy Center, Université de Paris, Robert Debré University Hospital, Paris, France.
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Źródło :
Expert review of neurotherapeutics [Expert Rev Neurother] 2021 Mar 04, pp. 1-8. Date of Electronic Publication: 2021 Mar 04.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Autorzy :
Kındış E; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Simsek-Kiper PÖ; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Koşukcu C; Department of Bioinformatics, Institute of Health Sciences, Hacettepe University, Ankara, Turkey.
Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Göçmen R; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine E; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Haliloğlu G; Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikaşifoğlu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1888-1896. Date of Electronic Publication: 2021 Mar 22.
Typ publikacji :
Case Reports
Raport
Tytuł :
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Autorzy :
Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Hörster F; Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Ballhausen D; Paediatric Unit for Metabolic Diseases, Department of Woman-Mother-Child, University Hospital Lausanne, Lausanne, Switzerland.
Chakrapani A; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK.
Chapman KA; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA.
Dionisi-Vici C; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy.
Dixon M; Dietetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK.
Haliloglu G; Department of Pediatrics, Division of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Hochuli M; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.
Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Karall D; Department of Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
Martinelli D; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy.
Molema F; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Sass JO; Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein Sieg University of Applied Sciences, Rheinbach, Germany.
Scholl-Bürgi S; Department of Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
Tal G; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
Williams M; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Feb 17. Date of Electronic Publication: 2021 Feb 17.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome: a case report.
Autorzy :
Yardımcı-Lokmanoğlu BN; Developmental and Early Physiotherapy Unit, Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Ankara, Turkey.
Mutlu A; Developmental and Early Physiotherapy Unit, Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Ankara, Turkey.
Livanelioğlu A; Developmental and Early Physiotherapy Unit, Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Ankara, Turkey.
Haliloğlu G; Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
The Turkish journal of pediatrics [Turk J Pediatr] 2021; Vol. 63 (1), pp. 167-173.
Typ publikacji :
Case Reports
Raport
Tytuł :
Inflammatory milieu of muscle biopsies in juvenile dermatomyositis.
Autorzy :
Sag E; Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University, Ankara, Turkey. .
Kale G; Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Haliloglu G; Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Bilginer Y; Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Akcoren Z; Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Orhan D; Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Gucer S; Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Topaloglu H; Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Ozen S; Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Talim B; Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
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Źródło :
Rheumatology international [Rheumatol Int] 2021 Jan; Vol. 41 (1), pp. 77-85. Date of Electronic Publication: 2020 Oct 26.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Clinical features, muscle biopsy scores, myositis specific antibody profiles and outcome in juvenile dermatomyositis.
Autorzy :
Sag E; Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University, Ankara 06100, Turkey.
Demir S; Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University, Ankara 06100, Turkey.
Bilginer Y; Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University, Ankara 06100, Turkey.
Talim B; Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Haliloglu G; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Topaloglu H; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Ozen S; Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University, Ankara 06100, Turkey. Electronic address: .
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Źródło :
Seminars in arthritis and rheumatism [Semin Arthritis Rheum] 2020 Dec 21; Vol. 51 (1), pp. 95-100. Date of Electronic Publication: 2020 Dec 21.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Validation of the EULAR/ACR 2017 idiopathic inflammatory myopathy classification criteria in juvenile dermatomyositis patients.
Autorzy :
Sag E; Division of Paediatric Rheumatology, Department of Paediatrics, Hacettepe University, Ankara, Turkey.
Demir S; Division of Paediatric Rheumatology, Department of Paediatrics, Hacettepe University, Ankara, Turkey.
Bilginer Y; Division of Paediatric Rheumatology, Department of Paediatrics, Hacettepe University, Ankara, Turkey.
Talim B; Paediatric Pathology Unit, Department of Paediatrics, Hacettepe University, Ankara, Turkey.
Haliloglu G; Division of Paediatric Neurology, Department of Paediatrics, Hacettepe University, Ankara, Turkey.
Ozen S; Division of Paediatric Rheumatology, Department of Paediatrics, Hacettepe University, Ankara, Turkey. .
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Źródło :
Clinical and experimental rheumatology [Clin Exp Rheumatol] 2020 Dec 04, pp. . Date of Electronic Publication: 2020 Dec 04.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.
Autorzy :
Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Oguz S; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ergen FB; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Haliloglu G; Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Neuropediatrics [Neuropediatrics] 2020 Dec; Vol. 51 (6), pp. 445-449. Date of Electronic Publication: 2020 Jul 14.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder.
Autorzy :
Yıldız Y; Divisions of Pediatric Metabolism and.
Göçmen R; Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey; and.
Yaramış A; Private Office, Pediatric Neurology Clinic, Diyarbakır, Turkey.
Coşkun T; Divisions of Pediatric Metabolism and.
Haliloğlu G; Pediatric Neurology, Department of Pediatrics and.
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Źródło :
Pediatrics [Pediatrics] 2020 Nov; Vol. 146 (5).
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Frameshift Mutation*
Autism Spectrum Disorder/*genetics
Brain Diseases, Metabolic, Inborn/*genetics
Creatine/*deficiency
Diseases in Twins/*genetics
Mental Retardation, X-Linked/*genetics
Nerve Tissue Proteins/*genetics
Plasma Membrane Neurotransmitter Transport Proteins/*deficiency
Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/drug therapy ; Brain/diagnostic imaging ; Brain Diseases, Metabolic, Inborn/diagnosis ; Brain Diseases, Metabolic, Inborn/drug therapy ; Child ; Creatine/genetics ; Creatinine/metabolism ; Diseases in Twins/diagnosis ; Diseases in Twins/drug therapy ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/drug therapy ; Intellectual Disability/genetics ; Male ; Mental Retardation, X-Linked/diagnosis ; Mental Retardation, X-Linked/drug therapy ; Plasma Membrane Neurotransmitter Transport Proteins/genetics ; Proton Magnetic Resonance Spectroscopy
SCR Disease Name :
Creatine deficiency, X-linked
Czasopismo naukowe
Tytuł :
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.
Autorzy :
Silwal A; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.
Sarkozy A; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.
Scoto M; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.
Ridout D; Population, Policy and Practice Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital Trust, London, UK.
Schmidt A; Respiratory Department, Sleep and Non-Invasive Ventilation, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Laverty A; Respiratory Department, Sleep and Non-Invasive Ventilation, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Henriques M; Respiratory Department, Sleep and Non-Invasive Ventilation, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
D'Argenzio L; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.
Main M; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.
Mein R; Genetic Department, Molecular Genetics Laboratory Viapath, Guy's Hospital, London, UK.
Manzur AY; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.
Abel F; Respiratory Department, Sleep and Non-Invasive Ventilation, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Al-Ghamdi F; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Ardicli D; Hacettepe University Children's Hospital, Department of Paediatric Neurology, Ankara, Turkey.
Haliloglu G; Hacettepe University Children's Hospital, Department of Paediatric Neurology, Ankara, Turkey.
Topaloglu H; Hacettepe University Children's Hospital, Department of Paediatric Neurology, Ankara, Turkey.
Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Muntoni F; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital Trust, London, UK.
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Źródło :
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Nov; Vol. 7 (11), pp. 2288-2296. Date of Electronic Publication: 2020 Oct 10.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
Autorzy :
Ozon ZA; Department of Pediatrics, Division of Endocrinology, Hacettepe University, Ankara, Turkey.
Alikasifoglu A; Department of Pediatrics, Division of Endocrinology, Hacettepe University, Ankara, Turkey.
Kandemir N; Department of Pediatrics, Division of Endocrinology, Hacettepe University, Ankara, Turkey.
Aydin B; Department of Medical Genetics, Hacettepe University, Ankara, Turkey.
Gonc EN; Department of Pediatrics, Division of Endocrinology, Hacettepe University, Ankara, Turkey.
Karaosmanoglu B; Department of Medical Genetics, Hacettepe University, Ankara, Turkey.
Celik NB; Department of Pediatrics, Division of Endocrinology, Hacettepe University, Ankara, Turkey.
Eroglu-Ertugrul NG; Department of Pediatrics, Division of Neurology, Hacettepe University, Ankara, Turkey.
Taskiran EZ; Department of Medical Genetics, Hacettepe University, Ankara, Turkey.
Haliloglu G; Department of Pediatrics, Division of Neurology, Hacettepe University, Ankara, Turkey.
Oguz KK; Department of Radiology, Hacettepe University, Ankara, Turkey.
Kiper PO; Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey.
Yalnizoglu D; Department of Pediatrics, Division of Neurology, Hacettepe University, Ankara, Turkey.
Utine GE; Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey.
Alikasifoglu M; Department of Medical Genetics, Hacettepe University, Ankara, Turkey.
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Źródło :
Pediatric diabetes [Pediatr Diabetes] 2020 Nov; Vol. 21 (7), pp. 1176-1182. Date of Electronic Publication: 2020 Sep 10.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Correction: The genomic and clinical landscape of fetal akinesia.
Autorzy :
Pergande M; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Motameny S; University of Cologne, Cologne Center for Genomics CCG, Cologne, Germany.
Özdemir Ö; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Kreutzer M; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Wang H; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Daimagüler HS; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Becker K; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Karakaya M; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne, Institute of Human Genetics, Cologne, Germany.
Ehrhardt H; Department of General Pediatrics and Neonatology, Justus-Liebig-University, Gießen, Germany.
Elcioglu N; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.; Eastern Mediterranean University Medical School, Mersin, Turkey.
Ostojic S; Department of Neurology, Mother and Child Health Care Institute of Serbia 'Dr. Vukan Cupic', Belgrade, Serbia.
Chao CM; Department of General Pediatrics and Neonatology, Justus-Liebig-University, Gießen, Germany.
Kawalia A; University of Cologne, Cologne Center for Genomics CCG, Cologne, Germany.
Duman Ö; Department of Pediatric Neurology, Akdeniz University Hospital, Antalya, Turkey.
Koy A; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Hahn A; Department of Pediatric Neurology, Social Pediatrics and Epileptology, Justus-Liebig-University, Gießen, Germany.
Reimann J; Department of Neurology, Rheinische Friedrich-Wilhelms-University, Bonn, Germany.
Schoner K; Institute of Pathology, Philipps University of Marburg, Marburg, Germany.
Schänzer A; Institute of Neuropathology, Justus-Liebig-University, Gießen, Germany.
Westhoff JH; Heidelberg University, University Children's Hospital Heidelberg, Department of Pediatrics, Heidelberg, Germany.
Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Institute of Human Genetics, Heidelberg, Germany.
Cossee M; University of Montpellier, University Hospital of Montpellier, Molecular Diagnostic Laboratory, Montpellier, France.
Imbert-Bouteille M; University of Montpellier, University Hospital of Montpellier, Medical Genetics Department, Montpellier, France.
von Pein H; Johannes-Gutenberg University Mainz, University Medical Center Mainz, Institute of Neuropathology, Mainz, Germany.
Haliloglu G; Hacettepe University, Children's Hospital, Department of Pediatric Neurology, Ankara, Turkey.
Topaloglu H; Hacettepe University, Children's Hospital, Department of Pediatric Neurology, Ankara, Turkey.
Altmüller J; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, Cologne Center for Genomics CCG, Cologne, Germany.
Nürnberg P; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, Cologne Center for Genomics CCG, Cologne, Germany.
Thiele H; University of Cologne, Cologne Center for Genomics CCG, Cologne, Germany.
Heller R; University of Cologne, University Hospital Cologne, Institute of Human Genetics, Cologne, Germany.; Genetic Health Service NZ-Northern Hub, Auckland City Hospital, Auckland, New Zealand.; University of Cologne, Center for Rare Diseases Cologne (ZSEK), Cologne, Germany.
Cirak S; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany. .; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany. .; University of Cologne, Center for Rare Diseases Cologne (ZSEK), Cologne, Germany. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Aug; Vol. 22 (8), pp. 1426-1428.
Typ publikacji :
Published Erratum
Tytuł :
Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency.
Autorzy :
Solmaz I; Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Aytekin ES; Department of Pediatric Immunology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Çağdaş D; Department of Pediatric Immunology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Tan C; Department of Pediatric Immunology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Tezcan I; Department of Pediatric Immunology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Gocmen R; Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Haliloglu G; Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Anlar B; Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
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Źródło :
Neuropediatrics [Neuropediatrics] 2020 Jun; Vol. 51 (3), pp. 206-210. Date of Electronic Publication: 2019 Nov 21.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anemia, Hemolytic/*complications
Anemia, Hemolytic/*genetics
CD59 Antigens/*genetics
Encephalomyelitis, Acute Disseminated/*etiology
Hemoglobinuria/*complications
Hemoglobinuria/*genetics
Child ; Consanguinity ; Homozygote ; Humans ; Male ; Mutation ; Recurrence
SCR Disease Name :
CD59 Deficiency
Czasopismo naukowe
Tytuł :
A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories.
Autorzy :
Bulduk BK; Department of Medical Biology, Hacettepe University School of Medicine, Ankara, Turkey.
Kiliç HB; Department of Medical Biology, Hacettepe University School of Medicine, Ankara, Turkey.
Bekircan-Kurt CE; Department of Neurology, Hacettepe University School of Medicine, Ankara, Turkey.
Haliloğlu G; Department of Pediatric Neurology, Hacettepe University School of Medicine, Ankara, Turkey.
Erdem Özdamar S; Department of Neurology, Hacettepe University School of Medicine, Ankara, Turkey.
Topaloğlu H; Department of Pediatric Neurology, Hacettepe University School of Medicine, Ankara, Turkey.
Kocaefe YÇ; Department of Medical Biology, Hacettepe University School of Medicine, Ankara, Turkey.
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Źródło :
Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2020 Mar; Vol. 24 (3), pp. 165-170.
Typ publikacji :
Journal Article
MeSH Terms :
Kearns-Sayre Syndrome/*genetics
Mitochondrial Myopathies/*genetics
Polymerase Chain Reaction/*methods
RNA, Transfer, Leu/*genetics
DNA, Mitochondrial/genetics ; Female ; Humans ; Kearns-Sayre Syndrome/diagnosis ; Male ; Mitochondria/genetics ; Mitochondrial Myopathies/diagnosis ; Mutation/genetics ; Polymorphism, Single Nucleotide/genetics ; Proof of Concept Study ; RNA, Transfer, Leu/analysis ; Sensitivity and Specificity
SCR Disease Name :
Mitochondrial cytopathy
Czasopismo naukowe
Tytuł :
The genomic and clinical landscape of fetal akinesia.
Autorzy :
Pergande M; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Motameny S; University of Cologne, Cologne Center for Genomics CCG, Cologne, Germany.
Özdemir Ö; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Kreutzer M; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Wang H; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Daimagüler HS; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Becker K; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Karakaya M; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, University Hospital Cologne, Institute of Human Genetics, Cologne, Germany.
Ehrhardt H; Department of General Pediatrics and Neonatology, Justus-Liebig-University, Gießen, Germany.
Elcioglu N; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.; Eastern Mediterranean University Medical School, Mersin, Turkey.
Ostojic S; Department of Neurology, Mother and Child Health Care Institute of Serbia 'Dr. Vukan Cupic', Belgrade, Serbia.
Chao CM; Department of General Pediatrics and Neonatology, Justus-Liebig-University, Gießen, Germany.
Kawalia A; University of Cologne, Cologne Center for Genomics CCG, Cologne, Germany.
Duman Ö; Department of Pediatric Neurology, Akdeniz University Hospital, Antalya, Turkey.
Koy A; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany.
Hahn A; Department of Pediatric Neurology, Social Pediatrics and Epileptology, Justus-Liebig-University, Gießen, Germany.
Reimann J; Department of Neurology, Rheinische Friedrich-Wilhelms-University, Bonn, Germany.
Schoner K; Institute of Pathology, Philipps University of Marburg, Marburg, Germany.
Schänzer A; Institute of Neuropathology, Justus-Liebig-University, Gießen, Germany.
Westhoff JH; Heidelberg University, University Children's Hospital Heidelberg, Department of Pediatrics, Heidelberg, Germany.
Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Institute of Human Genetics, Heidelberg, Germany.
Cossee M; University of Montpellier, University Hospital of Montpellier, Molecular Diagnostic Laboratory, Montpellier, France.
Imbert-Bouteille M; University of Montpellier, University Hospital of Montpellier, Medical Genetics Department, Montpellier, France.
von Pein H; Johannes-Gutenberg University Mainz, University Medical Center Mainz, Institute of Neuropathology, Mainz, Germany.
Haliloglu G; Hacettepe University, Children's Hospital, Department of Pediatric Neurology, Ankara, Turkey.
Topaloglu H; Hacettepe University, Children's Hospital, Department of Pediatric Neurology, Ankara, Turkey.
Altmüller J; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, Cologne Center for Genomics CCG, Cologne, Germany.
Nürnberg P; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.; University of Cologne, Cologne Center for Genomics CCG, Cologne, Germany.
Thiele H; University of Cologne, Cologne Center for Genomics CCG, Cologne, Germany.
Heller R; University of Cologne, University Hospital Cologne, Institute of Human Genetics, Cologne, Germany.; Genetic Health Service NZ-Northern Hub, Auckland City Hospital, Auckland, New Zealand.; University of Cologne, Center for Rare Diseases Cologne (ZSEK), Cologne, Germany.
Cirak S; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany. .; University of Cologne, University Hospital Cologne and Faculty of Medicine, Department of Pediatrics, Cologne, Germany. .; University of Cologne, Center for Rare Diseases Cologne (ZSEK), Cologne, Germany. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 511-523. Date of Electronic Publication: 2019 Nov 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Fetal Diseases/*genetics
Guanine Nucleotide Exchange Factors/*genetics
RNA-Binding Proteins/*genetics
Ryanodine Receptor Calcium Release Channel/*genetics
Trans-Activators/*genetics
Adolescent ; Adult ; Arthrogryposis/genetics ; Arthrogryposis/pathology ; Child ; Child, Preschool ; DNA Copy Number Variations/genetics ; Female ; Fetal Diseases/pathology ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Infant, Newborn ; Male ; Muscular Diseases/genetics ; Muscular Diseases/pathology ; Young Adult
Czasopismo naukowe
Tytuł :
Erratum to 'Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency' [Pediatric Neurology 99 (2019) 69-75].
Autorzy :
Yıldız Y; Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey. Electronic address: .
Talim B; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, Turkey.
Haliloglu G; Division of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Topaloglu H; Division of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Akçören Z; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, Turkey.
Dursun A; Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.
Sivri HS; Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.
Coşkun T; Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.
Tokatlı A; Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.
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Źródło :
Pediatric neurology [Pediatr Neurol] 2020 Feb; Vol. 103, pp. 91. Date of Electronic Publication: 2019 Dec 06.
Typ publikacji :
Journal Article; Published Erratum
Czasopismo naukowe
Tytuł :
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.
Autorzy :
Naumann M; Department of Neurology, Technische Universität Dresden, Dresden, Germany.; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany.; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, 18147, Germany.
Peikert K; Department of Neurology, Technische Universität Dresden, Dresden, Germany.; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, 18147, Germany.
Günther R; Department of Neurology, Technische Universität Dresden, Dresden, Germany.; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany.
van der Kooi AJ; Department of Neurology, Amsterdam UMC, Academic Medical Centre, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, the Netherlands.
Aronica E; Amsterdam UMC, Department of (Neuro)Pathology, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, The Netherlands.
Hübers A; Department of Neurology, German Center for Neurodegenerative Diseases, University of Ulm, Ulm, Germany.
Danel V; Centre expert pour la SLA et les maladies du motoneurone hôpital SALENGRO, CHU, Lille, France.
Corcia P; Centre expert pour la SLA et les maladies du motoneurone hôpital SALENGRO, CHU, Lille, France.
Pan-Montojo F; Department of Neurology, Klinikum der Universität München, Munich Cluster for Systems Neurology, SyNergy, Munich, 81377, Germany.
Cirak S; Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine, University of Cologne, Cologne, Germany.
Haliloglu G; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, 06100, Turkey.
Ludolph AC; Department of Neurology, German Center for Neurodegenerative Diseases, University of Ulm, Ulm, Germany.
Goswami A; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, 3052074, Germany.
Andersen PM; Institute of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, SE-90185, Sweden.
Prudlo J; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, 18147, Germany.; German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, Rostock, 18147, Germany.; Department of Neurology, University of Rostock, Rostock, Germany.
Wegner F; Department of Neurology, Hannover Medical School, Hannover, Germany.
Van Damme P; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Department for Neuroscience, VIB-KU Leuven Center for Brain & Disease Research, Leuven, Belgium.
Weishaupt JH; Department of Neurology, German Center for Neurodegenerative Diseases, University of Ulm, Ulm, Germany.
Hermann A; Department of Neurology, Technische Universität Dresden, Dresden, Germany.; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany.; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, 18147, Germany.; German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, Rostock, 18147, Germany.; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock, 18147, Germany.
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Źródło :
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Dec; Vol. 6 (12), pp. 2384-2394. Date of Electronic Publication: 2019 Nov 04.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Amyotrophic Lateral Sclerosis/*genetics
Neoplasms/*genetics
RNA-Binding Protein FUS/*genetics
Adolescent ; Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/epidemiology ; Amyotrophic Lateral Sclerosis/physiopathology ; Child ; Comorbidity ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Neoplasms/epidemiology ; Young Adult
Czasopismo naukowe
Tytuł :
Risk factors for seizure recurrence in a pediatric observation unit.
Autorzy :
Gultekingil A; Hacettepe University Medical Faculty, Department of Pediatrics, Division of Pediatric Emergency Medicine, Ankara, Turkey. Electronic address: .
Teksam O; Hacettepe University Medical Faculty, Department of Pediatrics, Division of Pediatric Emergency Medicine, Ankara, Turkey.
Haliloglu G; Hacettepe University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology, Ankara, Turkey.
Yalnizoglu D; Hacettepe University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology, Ankara, Turkey.
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Źródło :
The American journal of emergency medicine [Am J Emerg Med] 2019 Dec; Vol. 37 (12), pp. 2151-2154. Date of Electronic Publication: 2019 Jan 25.
Typ publikacji :
Journal Article
MeSH Terms :
Anticonvulsants/*therapeutic use
Clinical Observation Units/*statistics & numerical data
Epilepsy/*drug therapy
Seizures/*therapy
Age of Onset ; Case-Control Studies ; Child ; Child, Preschool ; Electroencephalography ; Epilepsy/epidemiology ; Female ; Humans ; Infant ; Male ; Prospective Studies ; Recurrence ; Risk Factors ; Seizures/epidemiology ; Time Factors
Czasopismo naukowe
Tytuł :
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
Autorzy :
Yıldız Y; Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey. Electronic address: .
Talim B; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, Turkey.
Haliloglu G; Division of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Topaloglu H; Division of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Akçören Z; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, Turkey.
Dursun A; Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.
Sivri HS; Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.
Coşkun T; Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.
Tokatlı A; Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.
Pokaż więcej
Źródło :
Pediatric neurology [Pediatr Neurol] 2019 Oct; Vol. 99, pp. 69-75. Date of Electronic Publication: 2019 Jun 28.
Typ publikacji :
Journal Article
MeSH Terms :
Multiple Acyl Coenzyme A Dehydrogenase Deficiency/*drug therapy
Riboflavin/*therapeutic use
Adolescent ; Age of Onset ; Child ; Child, Preschool ; Delayed Diagnosis ; Diagnosis, Differential ; Drug Resistance ; Electron-Transferring Flavoproteins/genetics ; Genetic Association Studies ; Genetic Heterogeneity ; Humans ; Infant ; Iron-Sulfur Proteins/genetics ; Metabolism, Inborn Errors/diagnosis ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency/diagnosis ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency/genetics ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency/metabolism ; Muscle, Skeletal/pathology ; Mutation, Missense ; Oxidoreductases Acting on CH-NH Group Donors/genetics ; Retrospective Studies ; Symptom Assessment ; Treatment Outcome ; Young Adult
Czasopismo naukowe

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