Informacja

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

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Haliloglu G"" wg kryterium: Autor


Wyświetlanie 1-10 z 10
Tytuł :
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience.
Autorzy :
Ardıçlı D; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Haliloğlu G; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Alikaşifoğlu M; Department of Medical Genetics, Hacettepe University Children's Hospital, Ankara, Turkey.; Genetics Diagnostic Center, DAMAGEN, Ankara, Turkey.
Topaloğlu H; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Pokaż więcej
Źródło :
Neuropediatrics [Neuropediatrics] 2019 Feb; Vol. 50 (1), pp. 41-45. Date of Electronic Publication: 2018 Nov 19.
Typ publikacji :
Journal Article
MeSH Terms :
Tertiary Care Centers*
Codon, Nonsense/*genetics
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*diagnosis
Muscular Dystrophy, Duchenne/*genetics
Mutation/*genetics
Child ; Child, Preschool ; Humans ; Infant ; Male ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
Autorzy :
Beecroft SJ; Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
McLean CA; Victorian Neuromuscular Laboratory, Alfred Health, Commercial Rd, Prahran, Vic. 3181, Australia.
Delatycki MB; Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Vic. 3052, Australia; Victorian Clinical Genetics Services, Parkville, Vic. 3052, Australia.
Koshy K; Launceston General Hospital, Launceston, Tas. 7250, Australia.
Yiu E; Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Vic. 3052, Australia; Neurology Department, Royal Children's Hospital, Melbourne, Vic. 3052, Australia.
Haliloglu G; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara 06100, Turkey.
Orhan D; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara 06100, Turkey.
Lamont PJ; Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Australia.
Davis MR; Neurogenetic Unit, Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Nedlands, WA 6009, Australia.
Laing NG; Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia; Neurogenetic Unit, Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Nedlands, WA 6009, Australia.
Ravenscroft G; Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia. Electronic address: .
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2017 Jul; Vol. 27 (7), pp. 607-615. Date of Electronic Publication: 2017 May 05.
Typ publikacji :
Journal Article
MeSH Terms :
Cytoplasmic Dyneins/*genetics
Mutation/*genetics
Neuromuscular Diseases/*genetics
Adenosine Triphosphatases/metabolism ; Adolescent ; Adult ; Aged ; Australia ; Child ; Child, Preschool ; Family Health ; Female ; Genetic Association Studies ; Humans ; Infant ; Male ; Middle Aged ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Myosins/metabolism ; Neuromuscular Diseases/pathology ; Phenotype ; Turkey ; Young Adult
Czasopismo naukowe
Tytuł :
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Autorzy :
Stevens E; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK.
Carss KJ
Cirak S
Foley AR
Torelli S
Willer T
Tambunan DE
Yau S
Brodd L
Sewry CA
Feng L
Haliloglu G
Orhan D
Dobyns WB
Enns GM
Manning M
Krause A
Salih MA
Walsh CA
Hurles M
Campbell KP
Manzini MC
Stemple D
Lin YY
Muntoni F
Pokaż więcej
Corporate Authors :
UK10K Consortium
Źródło :
American journal of human genetics [Am J Hum Genet] 2013 Mar 07; Vol. 92 (3), pp. 354-65. Date of Electronic Publication: 2013 Feb 28.
Typ publikacji :
Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Dystroglycans/*genetics
Muscular Dystrophies/*genetics
N-Acetylgalactosaminyltransferases/*genetics
Animals ; Brain/enzymology ; Brain/metabolism ; Cell Line ; Dystroglycans/metabolism ; Endoplasmic Reticulum/enzymology ; Endoplasmic Reticulum/genetics ; Endoplasmic Reticulum/metabolism ; Female ; Fibroblasts/enzymology ; Fibroblasts/metabolism ; Genetic Predisposition to Disease ; Glycosylation ; Humans ; Infant ; Male ; Muscle, Skeletal/enzymology ; Muscle, Skeletal/metabolism ; Muscular Dystrophies/enzymology ; Muscular Dystrophies/metabolism ; N-Acetylgalactosaminyltransferases/metabolism ; Zebrafish
Czasopismo naukowe
Tytuł :
Calpain-3 mutations in Turkey.
Autorzy :
Balci B; Faculty of Medicine, Department of Medical Biology, Hacettepe University, 6th floor, (06100), Sihhiye, Ankara, Turkey.
Aurino S
Haliloglu G
Talim B
Erdem S
Akcören Z
Tan E
Caglar M
Richard I
Nigro V
Topaloglu H
Dincer P
Pokaż więcej
Źródło :
European journal of pediatrics [Eur J Pediatr] 2006 May; Vol. 165 (5), pp. 293-8. Date of Electronic Publication: 2006 Jan 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Calpain/*genetics
Muscle Proteins/*genetics
Muscular Dystrophies, Limb-Girdle/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; DNA Mutational Analysis ; Genetic Linkage ; Genetic Testing ; Humans ; Muscular Dystrophies, Limb-Girdle/diagnosis ; Turkey
Czasopismo naukowe
Tytuł :
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
Autorzy :
D'Amico A; Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
Haliloglu G
Richard P
Talim B
Maugenre S
Ferreiro A
Guicheney P
Menditto I
Benedetti S
Bertini E
Bonne G
Topaloglu H
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2005 Aug; Vol. 15 (8), pp. 521-4.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Lamins/*genetics
Muscle Proteins/*genetics
Muscular Dystrophies/*genetics
Muscular Dystrophies/*physiopathology
Arginine/genetics ; Child ; DNA Mutational Analysis/methods ; Female ; Glycine/genetics ; Humans ; Infant ; Lamin Type A ; Male ; Muscle Weakness/genetics ; Muscle Weakness/physiopathology ; Neck Muscles/pathology ; Neck Muscles/physiopathology ; Selenoproteins ; Syndrome
Czasopismo naukowe
Tytuł :
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Autorzy :
Balci B; Department of Medical Biology, Hacettepe University, Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey.
Uyanik G
Dincer P
Gross C
Willer T
Talim B
Haliloglu G
Kale G
Hehr U
Winkler J
Topaloğlu H
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2005 Apr; Vol. 15 (4), pp. 271-5.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Intellectual Disability/*genetics
Mannosyltransferases/*genetics
Muscular Dystrophies, Limb-Girdle/*genetics
Mutation/*genetics
Adolescent ; Adult ; Alanine/genetics ; Alleles ; Child ; DNA Mutational Analysis/methods ; Female ; Humans ; Intellectual Disability/physiopathology ; Male ; Models, Molecular ; Muscular Dystrophies, Limb-Girdle/physiopathology ; Phenotype ; Polymorphism, Single Nucleotide ; Proline/genetics ; RNA, Messenger/biosynthesis ; Reverse Transcriptase Polymerase Chain Reaction/methods
Czasopismo naukowe
Tytuł :
Beta-sarcoglycan gene mutations in Turkey.
Autorzy :
Balci B; Hacettepe University, Faculty of Medicine, Department of Medical Biology, Turkey.
Wilichowski E
Haliloğlu G
Talim B
Aurino S
Kremer E
Ebinger F
Senbil N
Anlar B
Kale G
Nigro V
Topaloğlu H
Bonnemann C
Dinçer P
Pokaż więcej
Źródło :
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology [Acta Myol] 2004 Dec; Vol. 23 (3), pp. 154-8.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Dystrophies, Limb-Girdle/*genetics
Mutation/*genetics
Sarcoglycans/*genetics
Adolescent ; Adult ; Child ; Cohort Studies ; Exons/genetics ; Female ; Genetic Linkage/genetics ; Humans ; Male ; Phenotype ; Severity of Illness Index ; Turkey
Czasopismo naukowe
    Wyświetlanie 1-10 z 10

    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