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Wyszukujesz frazę ""Haliloğlu, G."" wg kryterium: Autor


Wyświetlanie 1-7 z 7
Tytuł :
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Autorzy :
Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address: .
Pierson CR; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital and the Ohio State University College of Medicine, Columbus, OH 43205, USA.
Joshi M; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Liu X; Department of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston MA 02115, USA.
Ravenscroft G; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
Moghadaszadeh B; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Talabere T; Research Institute, Nationwide Children's Hospital and the Ohio State University College of Medicine, Columbus, OH 43205, USA.
Viola M; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Swanson LC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Haliloğlu G; Neurology Unit, Department of Pediatrics, Hacettepe University Children's Hospital, Ankara 06100, Turkey.
Talim B; Pathology Unit, Department of Pediatrics, Hacettepe University Children's Hospital, Ankara 06100, Turkey.
Yau KS; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
Allcock RJ; Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA 6009, Australia.
Laing NG; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
Perrella MA; Department of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston MA 02115, USA; Department of Newborn Medicine, Brigham and Women's Hospital, Boston MA 02115, USA.
Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2014 Aug 07; Vol. 95 (2), pp. 218-26. Date of Electronic Publication: 2014 Jul 31.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Cardiomyopathy, Dilated/*genetics
Muscle Proteins/*genetics
Myopathies, Structural, Congenital/*genetics
Protein Tyrosine Phosphatases, Non-Receptor/*genetics
Protein-Serine-Threonine Kinases/*genetics
Amino Acid Sequence ; Animals ; Child ; Child, Preschool ; Disease Models, Animal ; Female ; Humans ; Infant, Newborn ; Male ; Mice ; Mice, Knockout ; Muscle Proteins/metabolism ; Mutation ; Myocardium/cytology ; Myofibrils/genetics ; Phosphatidylinositol Phosphates/biosynthesis ; Protein Tyrosine Phosphatases, Non-Receptor/metabolism ; Protein-Serine-Threonine Kinases/metabolism ; Sarcoplasmic Reticulum/genetics ; Sarcoplasmic Reticulum/pathology ; Sequence Alignment ; Sequence Analysis, DNA ; Turkey ; Two-Hybrid System Techniques
Czasopismo naukowe
Tytuł :
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Autorzy :
Ravenscroft G; Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia.
Miyatake S
Lehtokari VL
Todd EJ
Vornanen P
Yau KS
Hayashi YK
Miyake N
Tsurusaki Y
Doi H
Saitsu H
Osaka H
Yamashita S
Ohya T
Sakamoto Y
Koshimizu E
Imamura S
Yamashita M
Ogata K
Shiina M
Bryson-Richardson RJ
Vaz R
Ceyhan O
Brownstein CA
Swanson LC
Monnot S
Romero NB
Amthor H
Kresoje N
Sivadorai P
Kiraly-Borri C
Haliloglu G
Talim B
Orhan D
Kale G
Charles AK
Fabian VA
Davis MR
Lammens M
Sewry CA
Manzur A
Muntoni F
Clarke NF
North KN
Bertini E
Nevo Y
Willichowski E
Silberg IE
Topaloglu H
Beggs AH
Allcock RJ
Nishino I
Wallgren-Pettersson C
Matsumoto N
Laing NG
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Źródło :
American journal of human genetics [Am J Hum Genet] 2013 Jul 11; Vol. 93 (1), pp. 6-18. Date of Electronic Publication: 2013 Jun 06.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
Muscle Proteins/*metabolism
Muscle, Skeletal/*pathology
Myopathies, Nemaline/*genetics
Amino Acid Substitution ; Animals ; Asian Continental Ancestry Group/genetics ; Cohort Studies ; Frameshift Mutation ; Genes, Recessive ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Muscle Proteins/genetics ; Myopathies, Nemaline/ethnology ; Myopathies, Nemaline/pathology ; Pedigree ; Polymorphism, Single Nucleotide ; Severity of Illness Index ; Zebrafish/genetics
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
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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
    Wyświetlanie 1-7 z 7

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