Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Yuksel, Adnan"" wg kryterium: Autor


Tytuł :
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Autorzy :
Simons, Cas
Rash, Lachlan D
Crawford, Joanna
Ma, Linlin
Cristofori-Armstrong, Ben
Miller, David
Ru, Kelin
Baillie, Gregory J
Alanay, Yasemin
Jacquinet, Adeline
Debray, François-Guillaume
Verloes, Alain
Shen, Joseph
Yesil, Gözde
Guler, Serhat
Yuksel, Adnan
Cleary, John G
Grimmond, Sean M
McGaughran, Julie
King, Glenn F
Pokaż więcej
Temat :
PROTEIN engineering
CHARTS, diagrams, etc.
Źródło :
Nature Genetics; Mar2015, Vol. 47 Issue 3, p304-304, 1p
Czasopismo naukowe
Tytuł :
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Autorzy :
Villar-Quiles RN; Basic and Translational Myology Laboratory, UMR8251, University of Paris/National Center for Scientific Research, Paris, France.; Reference Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, APHP, Institute of Myology, Paris, France.
Catervi F; Basic and Translational Myology Laboratory, UMR8251, University of Paris/National Center for Scientific Research, Paris, France.
Cabet E; Basic and Translational Myology Laboratory, UMR8251, University of Paris/National Center for Scientific Research, Paris, France.
Juntas-Morales R; Neuromuscular Unit, University Hospital Center Montpellier/EA7402 University of Montpellier, University Institute of Clinical Research, Montpellier, France.
Genetti CA; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Gidaro T; I-Motion, Institute of Myology, APHP, Paris, France.
Koparir A; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.
Yüksel A; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.
Coppens S; Department of Pediatric Neurology, Reference Neuromuscular Center, Queen Fabiola Children's University Hospital, Free University of Brussels, Brussels, Belgium.
Deconinck N; Department of Pediatric Neurology, Reference Neuromuscular Center, Queen Fabiola Children's University Hospital, Free University of Brussels, Brussels, Belgium.
Pierce-Hoffman E; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA.
Lornage X; Department of Translational Medicine and Neurogenetics, Institute of Genetics and Molecular and Cellular Biology, National Institute of Health and Medical Research U1258, National Center for Scientific Research UMR7104, University of Strasbourg, Illkirch, France.
Durigneux J; Department of Neuropediatrics, University Hospital Center Angers, Neuromuscular Diseases Reference Center Antlantique Occitanie Caraïbe, Angers, France.
Laporte J; Department of Translational Medicine and Neurogenetics, Institute of Genetics and Molecular and Cellular Biology, National Institute of Health and Medical Research U1258, National Center for Scientific Research UMR7104, University of Strasbourg, Illkirch, France.
Rendu J; Laboratory of Biochemistry and Molecular Genetics, University Hospital Center Grenoble, Grenoble, France.
Romero NB; Reference Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, APHP, Institute of Myology, Paris, France.; Neuromuscular Morphology Unit, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
Beggs AH; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Servais L; I-Motion, Institute of Myology, APHP, Paris, France.; Division of Child Neurology, Neuromuscular Diseases Reference Center, Department of Pediatrics, Liège University Hospital and University of Liège, Liège, Belgium.
Cossée M; Molecular Genetics Laboratory, University Hospital Center Montpellier/National Institute of Health and Medical Research U827, University Institute of Clinical Research, Montpellier, France.
Olivé M; Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Institute of Biomedical Research of Bellvitge-University Hospital of Bellvitge, Barcelona, Spain.
Böhm J; Department of Translational Medicine and Neurogenetics, Institute of Genetics and Molecular and Cellular Biology, National Institute of Health and Medical Research U1258, National Center for Scientific Research UMR7104, University of Strasbourg, Illkirch, France.
Duband-Goulet I; Basic and Translational Myology Laboratory, UMR8251, University of Paris/National Center for Scientific Research, Paris, France.
Ferreiro A; Basic and Translational Myology Laboratory, UMR8251, University of Paris/National Center for Scientific Research, Paris, France.; Reference Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, APHP, Institute of Myology, Paris, France.
Pokaż więcej
Źródło :
Annals of neurology [Ann Neurol] 2020 Feb; Vol. 87 (2), pp. 217-232. Date of Electronic Publication: 2019 Dec 27.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Amino Acid Transport System y+/*physiology
Cell Cycle/*physiology
Muscular Diseases/*physiopathology
Transcription Factors/*genetics
Adult ; Amino Acid Transport System y+/metabolism ; Cells, Cultured ; Child ; Child, Preschool ; Female ; Fibroblasts/physiology ; Humans ; Infant ; Male ; Middle Aged ; Muscle Proteins/genetics ; Muscle, Skeletal/pathology ; Muscle, Skeletal/physiopathology ; Muscular Diseases/genetics ; Mutation ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.
Autorzy :
Karaca E; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA.
Karakoc-Aydiner E
Bayrak OF
Keles S
Sevli S
Barlan IB
Yuksel A
Chatila TA
Ozen M
Pokaż więcej
Źródło :
Gene [Gene] 2013 Jan 10; Vol. 512 (2), pp. 189-93. Date of Electronic Publication: 2012 Nov 02.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
Prenatal Diagnosis*
Severe Combined Immunodeficiency*/blood
Severe Combined Immunodeficiency*/diagnosis
Severe Combined Immunodeficiency*/genetics
Severe Combined Immunodeficiency*/pathology
ZAP-70 Protein-Tyrosine Kinase/*genetics
Adult ; Amino Acid Substitution ; CD8-Positive T-Lymphocytes/metabolism ; CD8-Positive T-Lymphocytes/pathology ; Child, Preschool ; Dermatitis/blood ; Dermatitis/diagnosis ; Dermatitis/genetics ; Dermatitis/pathology ; Family ; Female ; Humans ; Ichthyosis/blood ; Ichthyosis/diagnosis ; Ichthyosis/genetics ; Ichthyosis/pathology ; Immunoglobulin E/blood ; Killer Cells, Natural/metabolism ; Killer Cells, Natural/pathology ; Lymphocyte Count ; Male ; Pedigree ; Pregnancy ; T-Lymphocytes, Regulatory/metabolism ; T-Lymphocytes, Regulatory/pathology ; Turkey ; ZAP-70 Protein-Tyrosine Kinase/blood ; ZAP-70 Protein-Tyrosine Kinase/deficiency
SCR Disease Name :
ZAP70 deficiency
Czasopismo naukowe
Tytuł :
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia.
Autorzy :
Gezdirici A; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Yenigun A
Koparir E
Yosunkaya E
Ulucan H
Seven M
Yuksel A
Ozen M
Pokaż więcej
Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2013 Jan; Vol. 22 (1), pp. 33-5.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Cochlea/*abnormalities
Hearing Loss, Sensorineural/*diagnosis
Limb Deformities, Congenital/*diagnosis
Adult ; Female ; Hashimoto Disease/diagnosis ; Humans ; Infant ; Karyotype ; Rare Diseases/diagnosis
SCR Disease Name :
Split hand foot deformity
Czasopismo naukowe
Tytuł :
Evidence that membrane-bound G protein-coupled melatonin receptors MT1 and MT2 are not involved in the neuroprotective effects of melatonin in focal cerebral ischemia.
Autorzy :
Kilic U; Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey.
Yilmaz B
Ugur M
Yüksel A
Reiter RJ
Hermann DM
Kilic E
Pokaż więcej
Źródło :
Journal of pineal research [J Pineal Res] 2012 Mar; Vol. 52 (2), pp. 228-35. Date of Electronic Publication: 2011 Sep 14.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain Ischemia/*metabolism
Melatonin/*metabolism
Receptor, Melatonin, MT1/*metabolism
Receptor, Melatonin, MT2/*metabolism
Animals ; Antioxidants/metabolism ; Antioxidants/pharmacology ; Blotting, Western ; Brain Ischemia/drug therapy ; Brain Ischemia/pathology ; Male ; Melatonin/pharmacology ; Mice ; Mice, Knockout ; Neuroprotective Agents/metabolism ; Neuroprotective Agents/pharmacology ; Signal Transduction/drug effects ; Signal Transduction/physiology
Czasopismo naukowe
Tytuł :
Glutathione S-transferase M1, GSTT1 and GSTP1 genetic polymorphisms and the risk of age-related macular degeneration.
Autorzy :
Güven M; Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Görgün E
Ünal M
Yenerel M
Batar B
Küçümen B
Dinç UA
Güven GS
Ulus T
Yüksel A
Pokaż więcej
Źródło :
Ophthalmic research [Ophthalmic Res] 2011; Vol. 46 (1), pp. 31-7. Date of Electronic Publication: 2011 Jan 05.
Typ publikacji :
Journal Article
MeSH Terms :
Polymorphism, Genetic*
Geographic Atrophy/*genetics
Glutathione S-Transferase pi/*genetics
Glutathione Transferase/*genetics
Wet Macular Degeneration/*genetics
Aged ; Aged, 80 and over ; Case-Control Studies ; Female ; Fluorescein Angiography ; Genotype ; Geographic Atrophy/diagnosis ; Humans ; Indocyanine Green ; Male ; Middle Aged ; Polymerase Chain Reaction ; Risk Factors ; Wet Macular Degeneration/diagnosis
Czasopismo naukowe
Tytuł :
Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related macular degeneration.
Autorzy :
Görgün E; Department of Ophthalmology, Yeditepe University Medical Faculty, Istanbul, Turkey.
Güven M
Unal M
Batar B
Güven GS
Yenerel M
Tatlipinar S
Seven M
Yüksel A
Pokaż więcej
Źródło :
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2010 Sep; Vol. 51 (9), pp. 4732-7. Date of Electronic Publication: 2010 Apr 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Polymorphism, Restriction Fragment Length*
DNA Repair/*genetics
DNA-Binding Proteins/*genetics
Macular Degeneration/*epidemiology
Macular Degeneration/*genetics
Xeroderma Pigmentosum Group D Protein/*genetics
Aged ; Aged, 80 and over ; Case-Control Studies ; Codon/genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease/epidemiology ; Haplotypes ; Humans ; Male ; Middle Aged ; Risk Factors ; X-ray Repair Cross Complementing Protein 1
Czasopismo naukowe
Tytuł :
Marked improvement in Segawa syndrome after L-dopa and selegiline treatment.
Autorzy :
Yosunkaya E; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey. />Karaca E
Basaran S
Seven M
Yüksel A
Pokaż więcej
Źródło :
Pediatric neurology [Pediatr Neurol] 2010 May; Vol. 42 (5), pp. 348-50.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Diseases in Twins/*diagnosis
Diseases in Twins/*drug therapy
Dystonic Disorders/*diagnosis
Dystonic Disorders/*drug therapy
Levodopa/*administration & dosage
Selegiline/*administration & dosage
Child, Preschool ; Diseases in Twins/enzymology ; Drug Therapy, Combination ; Dystonic Disorders/enzymology ; Humans ; Infant ; Male ; Pedigree ; Syndrome ; Treatment Outcome ; Tyrosine 3-Monooxygenase/genetics
Czasopismo naukowe
Tytuł :
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.
Autorzy :
Uzumcu A; Department of Medical Genetics, Istanbul University, Istanbul, Turkey.
Karaman B
Toksoy G
Uyguner ZO
Candan S
Eris H
Tatli B
Geckinli B
Yuksel A
Kayserili H
Basaran S
Pokaż więcej
Źródło :
European journal of medical genetics [Eur J Med Genet] 2009 Sep-Oct; Vol. 52 (5), pp. 315-20. Date of Electronic Publication: 2009 May 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 13*
Genetic Testing*
Facial Paralysis/*genetics
Mobius Syndrome/*genetics
Alleles ; CDX2 Transcription Factor ; DNA/genetics ; DNA/isolation & purification ; DNA Primers/chemistry ; Databases, Genetic ; Fibroblast Growth Factor 9/genetics ; Genetic Markers ; Genotype ; Glutathione Synthase/genetics ; Haplotypes ; Homeodomain Proteins/genetics ; Homozygote ; Humans ; Microsatellite Repeats ; Nucleic Acid Amplification Techniques ; Physical Chromosome Mapping ; Polymerase Chain Reaction ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome.
Autorzy :
Uzumcu A; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Candan S
Toksoy G
Uyguner ZO
Karaman B
Eris H
Tatli B
Kayserili H
Yuksel A
Geckinli B
Yuksel-Apak M
Basaran S
Pokaż więcej
Źródło :
Journal of genetics and genomics = Yi chuan xue bao [J Genet Genomics] 2009 Apr; Vol. 36 (4), pp. 251-6.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Pseudogenes*
Transcription, Genetic*
Membrane Proteins/*genetics
Mobius Syndrome/*genetics
Nerve Tissue Proteins/*genetics
Repressor Proteins/*genetics
Adolescent ; Base Sequence ; Child ; Child, Preschool ; Chromosomes, Human, Pair 13/genetics ; Chromosomes, Human, Pair 5/genetics ; Female ; Humans ; Infant ; Male ; Molecular Sequence Data
Czasopismo naukowe
Tytuł :
Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.
Autorzy :
Yuksel A; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey. />Karaca E
Albayram MS
Pokaż więcej
Źródło :
Journal of child neurology [J Child Neurol] 2009 Jan; Vol. 24 (1), pp. 93-6.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Oculocerebrorenal Syndrome*/complications
Oculocerebrorenal Syndrome*/genetics
Oculocerebrorenal Syndrome*/pathology
Face/*abnormalities
Magnetic Resonance Imaging/*methods
Magnetic Resonance Spectroscopy/*methods
Mutation/*genetics
Phosphoric Monoester Hydrolases/*genetics
Asparagine/genetics ; Brain/pathology ; Child ; DNA Mutational Analysis ; Exons/genetics ; Humans ; Lysine/genetics ; Male
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies