Cargando…

Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves

Detalles Bibliográficos
Autores principales:	Kari, Elina, Schrauwen, Isabelle, Llaci, Lorida, Fisher, Laurel M., Go, John L., Naymik, Marcus, Knowles, James A., Huentelman, Matthew J., Friedman, Rick A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2017
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427666/ https://www.ncbi.nlm.nih.gov/pubmed/28534045 http://dx.doi.org/10.1212/NXG.0000000000000153

Ejemplares similares

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss
por: Kari, Elina, et al.
Publicado: (2019)

Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease
por: Piras, Ignazio S., et al.
Publicado: (2020)

Polymorphisms in the MASP1 Gene Are Associated with Serum Levels of MASP-1, MASP-3, and MAp44
por: Gytz Ammitzbøll, Christian, et al.
Publicado: (2013)

Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2
por: Jepsen, Wayne M., et al.
Publicado: (2019)

MASP-1 Induced Clotting – The First Model of Prothrombin Activation by MASP-1
por: Jenny, Lorenz, et al.
Publicado: (2015)

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations
por: Ramsey, Keri, et al.
Publicado: (2022)

Association of MASP2 levels and MASP2 gene polymorphisms with systemic lupus erythematosus
por: Xu, Wang‐Dong, et al.
Publicado: (2020)

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders
por: Frankel, Eric, et al.
Publicado: (2023)

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities
por: Narayanan, Mohan, et al.
Publicado: (2015)

Association of MASP-2 Levels and MASP2 Gene Polymorphisms with Rheumatoid Arthritis in Patients and Their Relatives
por: Goeldner, Isabela, et al.
Publicado: (2014)

MASP-1 and MASP-2 Serum Levels Are Associated With Worse Prognostic in Cervical Cancer Progression
por: Maestri, Carlos Afonso, et al.
Publicado: (2018)

Candidacy for Cochlear Implantation in Prelingual Profoundly Deaf Adult Patients
por: Lahlou, Ghizlene, et al.
Publicado: (2022)

Auditory and Visual Electrophysiology of Deaf Children with Cochlear Implants: Implications for Cross-modal Plasticity
por: Corina, David P., et al.
Publicado: (2017)

Advances in Molecular Genetics and the Molecular Biology of Deafness
por: Nishio, Shin-ya, et al.
Publicado: (2016)

MASP-1 Increases Endothelial Permeability
por: Debreczeni, Márta L., et al.
Publicado: (2019)

The complex formation of MASP-3 with pattern recognition molecules of the lectin complement pathway retains MASP-3 in the circulation
por: Kusakari, Kohei, et al.
Publicado: (2022)

Outcome of Cochlear Implantation in Post-Meningitis Deaf Children
por: Hasanalifard, Mahdiyeh, et al.
Publicado: (2013)

Prediction of Cochlear Implant Outcomes in Patients With Prelingual Deafness
por: Kang, Dong Hoon, et al.
Publicado: (2016)

False Belief Understanding in Deaf Children With Cochlear Implants
por: Pluta, Agnieszka, et al.
Publicado: (2021)

Cognitive functioning in Deaf children using Cochlear implants
por: Almomani, Fidaa, et al.
Publicado: (2021)

Is it ever morally permissible to select for deafness in one’s child?
por: Wallis, Jacqueline Mae
Publicado: (2019)

Leprosy Association with Low MASP-2 Levels Generated by MASP2 Haplotypes and Polymorphisms Flanking MAp19 Exon 5
por: Boldt, Angelica Beate Winter, et al.
Publicado: (2013)

Differentially methylated loci in NAFLD cirrhosis are associated with key signaling pathways
por: Gerhard, Glenn S., et al.
Publicado: (2018)

MASP2 levels are elevated in thrombotic microangiopathies: association with microvascular endothelial cell injury and suppression by anti‐MASP2 antibody narsoplimab
por: Elhadad, S., et al.
Publicado: (2020)

Speechreading in Deaf Adults with Cochlear Implants: Evidence for Perceptual Compensation
por: Pimperton, Hannah, et al.
Publicado: (2017)

Educational Status in Bilateral Prelingual Deaf Children with Cochlear Implantation
por: Bae, Seong Hoon, et al.
Publicado: (2019)

Harmony Perception in Prelingually Deaf, Juvenile Cochlear Implant Users
por: Zimmer, Victoria, et al.
Publicado: (2019)

Diverse Linguistic Development in Prelingually Deaf Children with Cochlear Implants
por: De Stefano, Pia, et al.
Publicado: (2019)

Long-Term Outcome of Cochlear Implantation in Post-meningitic Deafness
por: Muzaffer Altuntaş, Ozan, et al.
Publicado: (2021)

Vestibular Function After Cochlear Implantation in Partial Deafness Treatment
por: Sosna-Duranowska, Magdalena, et al.
Publicado: (2021)

Considerations for Fitting Cochlear Implants Bimodally and to the Single-Sided Deaf
por: Pieper, Sabrina H., et al.
Publicado: (2022)

Benefits of Music Training for Perception of Emotional Speech Prosody in Deaf Children With Cochlear Implants
por: Good, Arla, et al.
Publicado: (2017)

MBL-associated serine proteases (MASPs) and infectious diseases
por: Beltrame, Marcia H., et al.
Publicado: (2015)

Unveiling the Great Therapeutic Potential of MASPs as Hemostatic Agents
por: Saad, Ashraf Abdullah
Publicado: (2022)

Hearing rehabilitation for unilateral deafness using a cochlear implant: the influence of the subjective duration of deafness on speech intelligibility
por: Rader, Tobias, et al.
Publicado: (2022)

Mannan binding lectin-associated serine protease-2 (MASP-2) critically contributes to post-ischemic brain injury independent of MASP-1
por: Orsini, Franca, et al.
Publicado: (2016)

Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia
por: Kitajiri, Shin-ichiro, et al.
Publicado: (2004)

Audio-Tactile Integration in Congenitally and Late Deaf Cochlear Implant Users
por: Nava, Elena, et al.
Publicado: (2014)

A Case of Cochlear Implantation in Bromate-Induced Bilateral Sudden Deafness
por: Eom, Tae-Ho, et al.
Publicado: (2015)

Cochlear Implantation and Single-sided Deafness: A Systematic Review of the Literature
por: Cabral Junior, Francisco, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_fkimqo4v0e8kesmt2kqptej25f