Page last updated: 2024-08-18

tecnazene and Genetic Predisposition

tecnazene has been researched along with Genetic Predisposition in 10 studies

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's5 (50.00)29.6817
2010's4 (40.00)24.3611
2020's1 (10.00)2.80

Authors

AuthorsStudies
Chang, X; Hu, Z; Lv, H; Wang, Q; Wang, Z; Xie, Z; Xiong, H; Yu, M; Yuan, Y; Zhang, W1
Kuehn, MH; Mellersh, CS; Oliver, JAC; Ricketts, SL1
Davis, MR; Laing, NG; Lamont, PJ; Nowak, KJ; Wallgren-Pettersson, C1
Ahram, DF; Collin, RW; Grozdanic, SD; Henkes, A; Kecova, H; Kuehn, MH1
Dubowitz, V1
Beggs, AH; DeChene, ET; Greenleaf, RS; Kellinsalmi, M; Laing, NG; Lehtokari, VL; Pelin, K; Wallgren-Pettersson, C1
Emery, A1
Achiron, R; Berkenstadt, M; Eisenberg-Barzilai, S; Frydman, M; Gilboa, Y; Lehtokari, VL; Mehta, L; Polak-Charcon, S; Pras, E; Reznik-Wolf, H; Wallgren-Pettersson, C; Winder, T; Yonath, H1
Anderson, SL; Donnelly, MC; Ekstein, J; Keefe, EM; LeVoci, LA; Rubin, BY; Toto, NR1
Allsop, J; Bydder, G; Chattopadhyay, A; Counsell, S; Jungbluth, H; Laing, N; Mercuri, E; Muntoni, F; North, K; Pelin, K; Sewry, CA; Wallgren-Pettersson, C1

Other Studies

10 other study(ies) available for tecnazene and Genetic Predisposition

ArticleYear
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
    Clinical genetics, 2020, Volume: 97, Issue:6

    Topics: Actins; Adolescent; Adult; Child; Child, Preschool; DNA Mutational Analysis; Exons; Female; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Muscle Proteins; Muscular Diseases; Mutation; Myopathies, Nemaline; Phenotype; Protein Isoforms; RNA Splicing; Troponin T; Young Adult

2020
Primary closed angle glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies.
    Molecular vision, 2019, Volume: 25

    Topics: Animals; Case-Control Studies; Dog Diseases; Dogs; Europe; Eye Proteins; Female; Gene Ontology; Genetic Loci; Genetic Predisposition to Disease; Genome; Genome-Wide Association Study; Glaucoma, Angle-Closure; High-Throughput Nucleotide Sequencing; Male; Molecular Sequence Annotation; Muscle Proteins; Polymorphism, Single Nucleotide; Sequence Analysis, RNA; Transcriptome; United States

2019
Clinical utility gene card for: Nemaline myopathy - update 2015.
    European journal of human genetics : EJHG, 2015, Volume: 23, Issue:11

    Topics: Genetic Predisposition to Disease; Genetic Testing; Humans; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Tropomyosin

2015
Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds.
    PloS one, 2015, Volume: 10, Issue:5

    Topics: Amino Acid Sequence; Animals; Chromosome Mapping; Computational Biology; Dog Diseases; Dogs; Exome; Genetic Linkage; Genetic Predisposition to Disease; Genetic Variation; Genotype; Glaucoma, Angle-Closure; High-Throughput Nucleotide Sequencing; Humans; Lod Score; Molecular Sequence Data; Muscle Proteins; Mutation; Phenotype; Polymorphism, Single Nucleotide; Sequence Alignment

2015
Nemaline myopathy: a tale of two cultures.
    Neuromuscular disorders : NMD, 2009, Volume: 19, Issue:3

    Topics: Europe; Founder Effect; Genetic Carrier Screening; Genetic Counseling; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Jews; Muscle Proteins; Mutation; Myopathies, Nemaline

2009
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
    Neuromuscular disorders : NMD, 2009, Volume: 19, Issue:3

    Topics: DNA Mutational Analysis; Exons; Female; Founder Effect; Gene Deletion; Genetic Predisposition to Disease; Genetic Testing; Global Health; Haplotypes; Homozygote; Humans; Inheritance Patterns; Jews; Male; Muscle Proteins; Mutation; Myopathies, Nemaline

2009
Rare genetic disorders in certain populations.
    Neuromuscular disorders : NMD, 2009, Volume: 19, Issue:5

    Topics: Cluster Analysis; Consanguinity; Founder Effect; Genes, Recessive; Genetic Predisposition to Disease; Genetic Variation; Humans; Jews; Linkage Disequilibrium; Muscle Proteins; Mutation; Myopathies, Nemaline

2009
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.
    Prenatal diagnosis, 2012, Volume: 32, Issue:1

    Topics: Adult; Codon, Nonsense; Exons; Female; Gene Deletion; Genetic Carrier Screening; Genetic Predisposition to Disease; Heterozygote; Humans; Infant, Newborn; Jews; Male; Muscle Proteins; Myopathies, Nemaline; Pedigree; Pregnancy; Ultrasonography, Prenatal

2012
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
    Human genetics, 2004, Volume: 115, Issue:3

    Topics: Adult; Child; DNA Mutational Analysis; Exons; Female; Gene Deletion; Genetic Predisposition to Disease; Haplotypes; Humans; Jews; Male; Muscle Proteins; Myopathies, Nemaline; Pedigree; Reverse Transcriptase Polymerase Chain Reaction

2004
Magnetic resonance imaging of muscle in nemaline myopathy.
    Neuromuscular disorders : NMD, 2004, Volume: 14, Issue:12

    Topics: Actins; Adolescent; Adult; Child; Child, Preschool; Diagnosis, Differential; Disease Progression; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Leg; Magnetic Resonance Imaging; Male; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Phenotype; Predictive Value of Tests

2004