Cargando…

Assessing Pathogenicity for Novel Mutation/Sequence Variants: The Value of Healthy Older Individuals

Improvement in DNA technology is increasingly revealing unexpected/unknown mutations in healthy persons and generating anxiety due to their still unknown health consequences. We report a 44-year-old healthy father of a 10-year-old daughter with bilateral coloboma and hearing loss, but without muscle...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zatz, Mayana, Pavanello, Rita de Cassia M., Lourenço, Naila Cristina V., Cerqueira, Antonia, Lazar, Monize, Vainzof, Mariz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Humana Press Inc 2012
Materias:	Original Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505535/ https://www.ncbi.nlm.nih.gov/pubmed/22707356 http://dx.doi.org/10.1007/s12017-012-8186-x

Ejemplares similares

Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report
por: Cuperman, Thais, et al.
Publicado: (2014)

Neuromuscular disorders: genes, genetic counseling and therapeutic trials
por: Zatz, Mayana, et al.
Publicado: (2016)

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
por: Gurgel-Giannetti, Juliana, et al.
Publicado: (2022)

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients
por: Galleni Leão, Leonardo, et al.
Publicado: (2020)

Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro
por: Jazedje, Tatiana, et al.
Publicado: (2009)

Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
por: Romanelli Tavares, Vanessa Luiza, et al.
Publicado: (2021)

Association between specific dystrophin gene mutations and myocardial fibrosis by cardiovascular magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy
por: Silva, Marly C, et al.
Publicado: (2014)

Progression of myocardial fibrosis by magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy and preserved left ventricular ejection fraction - a randomized clinical trial for treatment with ACE inhibitors
por: Silva, Marly C, et al.
Publicado: (2014)

Progression of myocardial fibrosis by magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy
por: Silva, Marly C, et al.
Publicado: (2013)

Preclinical Studies with Umbilical Cord Mesenchymal Stromal Cells in Different Animal Models for Muscular Dystrophy
por: Zucconi, Eder, et al.
Publicado: (2011)

Dystrophin genetic variants and autism
por: Passos-Bueno, Maria Rita, et al.
Publicado: (2022)

Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
por: Wajchenberg, Marcelo, et al.
Publicado: (2010)

Men are the main COVID-19 transmitters: behavior or biology?
por: Silva, Monize V. R., et al.
Publicado: (2022)

Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
por: Fernandes, Stephanie A., et al.
Publicado: (2020)

Development of a comprehensive noninvasive prenatal test
por: Malcher, Carolina, et al.
Publicado: (2018)

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility
por: Toledo, Rodrigo A, et al.
Publicado: (2015)

Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data
por: Bertholim-Nasciben, Luciana, et al.
Publicado: (2023)

Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration
por: Oliveira, Danyllo, et al.
Publicado: (2021)

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients
por: Mitne-Neto, Miguel, et al.
Publicado: (2011)

Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development
por: Hsia, Gabriella S. P., et al.
Publicado: (2018)

Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype
por: Souza, Lucas Santos, et al.
Publicado: (2020)

Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals
por: Lacaze, Paul, et al.
Publicado: (2020)

MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals
por: Castelli, Erick C., et al.
Publicado: (2021)

Protective lipid-lowering variants in healthy older individuals without coronary heart disease
por: Lacaze, Paul, et al.
Publicado: (2021)

Muscle Satellite Cells: Exploring the Basic Biology to Rule Them
por: Almeida, Camila F., et al.
Publicado: (2016)

Immunological evaluation of young unvaccinated patients with Turner syndrome after COVID-19
por: de Castro, Mateus V., et al.
Publicado: (2023)

Quantitative evaluation of brain volume among elderly individuals in São Paulo, Brazil: a population-based study
por: Rodrigues, Mariana Athaniel Silva, et al.
Publicado: (2019)

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface
por: Martins, Luciane, et al.
Publicado: (2022)

Acanthamoeba – pathogen and vector of highly pathogenic bacteria strains to healthy and immunocompromised individuals
por: BORECKA, ANNA, et al.
Publicado: (2020)

Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role
por: Andrade, Pamela V., et al.
Publicado: (2023)

Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants
por: Penon, Monica, et al.
Publicado: (2018)

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1
por: Garrity, Madison, et al.
Publicado: (2021)

Pathogenic variants in the healthy elderly: unique ethical and practical challenges
por: Lacaze, Paul, et al.
Publicado: (2017)

Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy
por: Silva, Helga Cristina Almeida da, et al.
Publicado: (2017)

NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent
por: Langley, Elizabeth, et al.
Publicado: (2022)

Functional annotation of de novo variants from healthy individuals
por: Lee, Jean, et al.
Publicado: (2019)

Follow-up of young adult monozygotic twins after simultaneous critical coronavirus disease 2019: a case report
por: de Castro, Mateus V., et al.
Publicado: (2022)

Corrigendum: Follow-up of young adult monozygotic twins after simultaneous critical coronavirus disease 2019: a case report
por: de Castro, Mateus V., et al.
Publicado: (2023)

Ornithobacterium rhinotracheale: An Update Review about An Emerging Poultry Pathogen
por: Barbosa, Eunice Ventura, et al.
Publicado: (2019)

GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis
por: Sliepka, Joseph M., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_86a135ng7u3tkqipr193hmhjjr