Cargando…

Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families

Jervell‐Lange Nielsen syndrome (JLNS) with autosomal recessive inheritance is a congenital cardiovascular disorder characterized by prolongation of QT interval on the ECG and deafness. We have performed molecular investigation by haplotype analysis and DNA Sanger sequencing in 2 unrelated Iranian fa...

Descripción completa

Detalles Bibliográficos
Autores principales:	Amirian, Azam, Zafari, Zahra, Dalili, Mohammad, Saber, Siamak, Karimipoor, Morteza, Dabbagh Bagheri, Samira, Fazelifar, Amir Farjam, Zeinali, Sirous
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010008/ https://www.ncbi.nlm.nih.gov/pubmed/29951145 http://dx.doi.org/10.1002/joa3.12042

Ejemplares similares

Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
por: Amirian, Azam, et al.
Publicado: (2018)

Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families
por: Amirian, Azam, et al.
Publicado: (2019)

Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations
por: Matsuda, Shinichi, et al.
Publicado: (2020)

Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome
por: Sung, Ji Yeon, et al.
Publicado: (2014)

Turkish perspective of Jervell and Lange-Nielsen syndrome
por: Temel, Sehime G, et al.
Publicado: (2013)

Macro T-wave Alternans in Jervell and Lange-Nielsen Syndrome
por: Das, Debasish, et al.
Publicado: (2023)

Jervell and Lange-Nielsen Syndrome: Novel Compound Heterozygous Mutations in the KCNQ1 in a Korean Family
por: Baek, Jae Suk, et al.
Publicado: (2010)

Human iPS cell models of Jervell and Lange-Nielsen syndrome
por: Bellin, Milena, et al.
Publicado: (2015)

Cerebral Seizures in an Adolescent with Jervell and Lange-Nielsen Syndrome: It May Not Be Epilepsy
por: Levaux, Joachim, et al.
Publicado: (2022)

Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family
por: Qiu, Yue, et al.
Publicado: (2020)

Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome
por: Zhao, Nongnong, et al.
Publicado: (2023)

A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome
por: Torrado, Mario, et al.
Publicado: (2021)

Characterization and haplotype study of 6 novel STR markers related to the KCNQ1 gene in heterogeneous cardiovascular disorders in the Iranian population
por: AMIRIAN, Azam, et al.
Publicado: (2019)

Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome
por: Gao, Yuanfeng, et al.
Publicado: (2012)

Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome
por: Cepeda-Nieto, Ana Cecilia, et al.
Publicado: (2021)

A child with Jervell and Lange-Nielsen syndrome for permanent pacemaker implantation and sympathectomy: Anesthesia management and considerations
por: Nair, Abhijit S, et al.
Publicado: (2015)

“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”
por: Uysal, Fahrettin, et al.
Publicado: (2017)

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report
por: Adadi, N., et al.
Publicado: (2017)

Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family
por: Zhang, Su, et al.
Publicado: (2008)

Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome
por: Chang, Qing, et al.
Publicado: (2015)

Anaesthesia management of a case of Jervell and Lange-Nielsen syndrome for minimally invasive bilateral thoracoscopic cervicothoracic sympathectomy
por: Roy, Preety Mittal, et al.
Publicado: (2016)

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano–Ward syndrome
por: Mousavi Nik, Atefeh, et al.
Publicado: (2015)

A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report
por: Nishimura, Motoi, et al.
Publicado: (2017)

Empirical correlation of triggered activity and spatial and temporal re-entrant substrates with arrhythmogenicity in a murine model for Jervell and Lange-Nielsen syndrome
por: Hothi, Sandeep S., et al.
Publicado: (2009)

Safe anesthesia management protocol of a child with congenital long QT syndrome and deafness (Jervell and lange-nielsen syndrome) for cochlear implant surgery
por: Kumar, Mayank, et al.
Publicado: (2015)

Gene therapy via canalostomy approach preserves auditory and vestibular functions in a mouse model of Jervell and Lange-Nielsen syndrome type 2
por: Wu, Xuewen, et al.
Publicado: (2021)

Jervell and Lange-Nielson Syndrome masquerading as intractable epilepsy
por: Goyal, Jagdish P., et al.
Publicado: (2012)

Molecular Basis of α-Thalassemia in Iran
por: Valaei, Atefeh, et al.
Publicado: (2018)

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect
por: Mojbafan, Marzieh, et al.
Publicado: (2020)

Nielsen's generalized polylogarithms
por: Kölbig, Kurt Siegfried
Publicado: (1983)

Reply to Nock and Nielsen: On the work of Nock and Nielsen and its relationship to the additive tree
por: Valdes, Gilmer, et al.
Publicado: (2020)

Improvement of K562 Cell Line Transduction by FBS Mediated Attachment to the Cell Culture Plate
por: Abbasalipour, Maryam, et al.
Publicado: (2019)

Film etudiants 6 - T. Nielsen / T. Alex
Publicado: (2016)

Automorphisms of surfaces after Nielsen and Thurston
por: Casson, Andrew J, et al.
Publicado: (1988)

On Nielsen’s generalized polylogarithms and their numerical calculation
por: Kölbig, Kurt Siegfried, et al.
Publicado: (1970)

Karl-Ove Nielsen, W. Jentschke
por: CERN PhotoLab
Publicado: (1975)

Novel bandlike signal abnormality suggestive of heterotopia in patient with a KCNQ1 frameshift mutation
por: Sabharwal, Priyanka, et al.
Publicado: (2017)

A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1
por: Kalayinia, Samira, et al.
Publicado: (2023)

Nielsen zeta function for homeomorphisms of 3-manifolds
por: Felshtyn, A
Publicado: (2001)

First person – Camilla Elinor Korsvig-Nielsen
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_00gtcme3mjag5u4poccllonknu