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Journal of Human Genetics, ISSN 1434-5161, 02/2017, Volume 62, Issue 2, pp. 243 - 252
The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families... 
POINT MUTATIONS | LAMA2 MUTATIONS | DIAGNOSIS | GENE | DISEASE | GENETICS & HEREDITY | PHENOTYPE | GIRDLE MUSCULAR-DYSTROPHY | SMCHD1 MUTATION | BETHLEM MYOPATHY | IDENTIFICATION
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 06/2014, Volume 124, Issue 6, pp. 2651 - 2667
Duchenne muscular dystrophy (DMD) is caused by mutations in the gene encoding dystrophin, which results in dysfunctional signaling pathways within muscle.... 
MEDICINE, RESEARCH & EXPERIMENTAL | SKELETAL-MUSCLE | MDX MOUSE | MESSENGER-RNAS | CENTRONUCLEAR MYOPATHY | GLYCOPROTEIN COMPLEX | C2C12 MYOBLAST | TUMOR-SUPPRESSOR | CELL-PROLIFERATION | MYOBLAST FUSION | PROTEIN-KINASE B | Muscular Dystrophy, Animal - genetics | Up-Regulation | Humans | Male | MicroRNAs - metabolism | Muscle, Skeletal - metabolism | Muscle Fibers, Skeletal - metabolism | Muscular Dystrophy, Animal - pathology | Guanine Nucleotide Exchange Factors - metabolism | Base Sequence | Mice, Inbred mdx | Muscular Dystrophy, Animal - metabolism | Proto-Oncogene Proteins c-akt - metabolism | Cell Line | Guanine Nucleotide Exchange Factors - genetics | Signal Transduction | Mice, Inbred C57BL | PTEN Phosphohydrolase - metabolism | Mice, Transgenic | Muscular Dystrophy, Duchenne - pathology | Nerve Tissue Proteins - genetics | Sequence Homology, Nucleic Acid | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Muscle Fibers, Skeletal - pathology | Mice | MicroRNAs - genetics | Muscular Dystrophy, Duchenne - metabolism | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | MicroRNA | Cellular signal transduction | Genetic aspects | Diagnosis | Properties | Genetic regulation | Muscular dystrophy | Muscular system | Mutation | Rodents | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 04/2015, Volume 24, Issue 2, pp. 325 - 335
The pediatric diagnostic odyssey is a period of uncertainty and emotional turmoil for families, often characterized by multiple minor medical procedures (such... 
Uncertainty | Genetic counseling | Neuromuscular disorder | Anticipatory anxiety | Medical procedures | Diagnostic odyssey | Distress | Venipuncture
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 612 - 622
Journal Article
Skeletal Muscle, ISSN 2044-5040, 08/2011, Volume 1, Issue 1, pp. 27 - 27
Background: Duchenne muscular dystrophy (DMD) is an X-linked myopathy resulting from the production of a nonfunctional dystrophin protein. MicroRNA (miRNA) are... 
CELL BIOLOGY | Physiological aspects | MicroRNA | Research | Gene expression | Dystrophin | Duchenne muscular dystrophy
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2013, Volume 23, Issue 12, pp. 975 - 980
Journal Article
by Cummings, Beryl B and Marshall, Jamie L and Tukiainen, Taru and Lek, Monkol and Donkervoort, Sandra and Foley, A. Reghan and Bolduc, Veronique and Waddell, Leigh B and Sandaradura, Sarah A and O'Grady, Gina L and Estrella, Elicia and Reddy, Hemakumar M and Zhao, Fengmei and Weisburd, Ben and Karczewski, Konrad J and O'Donnell-Luria, Anne H and Birnbaum, Daniel and Sarkozy, Anna and Hu, Ying and Gonorazky, Hernan and Claeys, Kristl and Joshi, Himanshu and Bournazos, Adam and Oates, Emily C and Ghaoui, Roula and Davis, Mark R and Laing, Nigel G and Topf, Ana and Kang, Peter B and Beggs, Alan H and North, Kathryn N and Straub, Volker and Dowling, James J and Muntoni, Francesco and Clarke, Nigel F and Cooper, Sandra T and Bönnemann, Carsten G and MacArthur, Daniel G and Ardlie, Kristin G and Getz, Gad and Gelfand, Ellen T and Segrè, Ayellet V and Aguet, François and Sullivan, Timothy J and Li, Xiao and Nedzel, Jared L and Trowbridge, Casandra A and Hadley, Kane and Huang, Katherine H and Noble, Michael S and Nguyen, Duyen T and Nobel, Andrew B and Wright, Fred A and Shabalin, Andrey A and Palowitch, John J and Zhou, Yi-Hui and Dermitzakis, Emmanouil T and McCarthy, Mark I and Payne, Anthony J and Lappalainen, Tuuli and Castel, Stephane and Kim-Hellmuth, Sarah and Mohammadi, Pejman and Battle, Alexis and Parsana, Princy and Mostafavi, Sara and Brown, Andrew and Ongen, Halit and Delaneau, Olivier and Panousis, Nikolaos and Howald, Cedric and Van De Bunt, Martijn and Guigo, Roderic and Monlong, Jean and Reverter, Ferran and Garrido, Diego and Munoz, Manuel and Bogu, Gireesh and Sodaei, Reza and Papasaikas, Panagiotis and Ndungu, Anne W and Montgomery, Stephen B and Li, Xin and Fresard, Laure and Davis, Joe R and Tsang, Emily K and Zappala, Zachary and Abell, Nathan S and Gloudemans, Michael J and Liu, Boxiang and Damani, Farhan N and Saha, Ashis and Kim, Yungil and Strober, Benjamin J and He, Yuan and Stephens, Matthew and Pritchard, Jonathan K and Wen, Xiaoquan and Urbut, Sarah and Cox, Nancy J and ... and Genotype-Tissue Expression Cinsort and Genotype-Tissue Expression Consortium
Science Translational Medicine, ISSN 1946-6234, 04/2017, Volume 9, Issue 386, pp. eaal5209 - eaal5209
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic... 
MEDICINE, RESEARCH & EXPERIMENTAL | VARIANTS | RNA-SEQ | ENHANCERS ESES | GUIDELINES | MUTATIONS | TOOL | CELL BIOLOGY | Collagen Type VI - genetics | Muscular Diseases - metabolism | Humans | Collagen Type VI - metabolism | Transcriptome - genetics | Muscular Diseases - genetics | Mutation | High-Throughput Nucleotide Sequencing - methods | Index Medicus | Genètica
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