Jervell and Lange-Nielsen Syndrome

L Tranebjærg - Genetic hearing loss, 2003 - taylorfrancis.com
The scope of the chapter is the surdo-cardiac or Jervell and Lange-Nielsen syndrome
(JLNS, MIM 220400). There will be some overlap with Romano-Ward or long-QT syndrome …

Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta

YJ Kim, Y Lee, W Chae, JW Kim - Journal of Personalized Medicine, 2023 - mdpi.com
Hereditary conditions that affect tooth enamel in quantity and/or quality are called
amelogenesis imperfecta (AI). AI can occur as an isolated condition or as a symptom of a …

Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome

Y Gao, C Li, W Liu, X Qiu, R Liang, L Li, D Hu… - Journal of …, 2012 - Elsevier
ABSTRACT Background: Long QT syndrome (LQTS) is characterized by QT prolongation,
syncope and sudden death. This study aims to explore the causes, clinical manifestations …

[PDF][PDF] Jervell Lange-Nielsen 综合征

张文娟, 孙宇, 孔维佳 - 临床耳鼻咽喉头颈外科杂志, 2019 - lceh.whuhzzs.com
Summary JervellandLange-Nielsensyndrome (JLNS) isanautosomalrecessivehereditarydiseasec…
. ChildrenwithJLNSoftenexhibitsensorineural… misdiagnosedasnon-syndromic …

De novo mutation in the KCNQ1 gene causal to Jervell and Lange‐Nielsen syndrome

JY Al‐Aama, S Al‐Ghamdi, AY Bdier… - Clinical …, 2014 - Wiley Online Library
Jervell and Lange‐Nielsen syndrome (JLNS) is an autosomal recessive disorder, clinically
characterized by severe cardiac arrhythmias [due to prolonged QTc interval in …

[PDF][PDF] Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome

JY Sung, EJ Bae, S Park, SY Kim… - Annals of laboratory …, 2014 - synapse.koreamed.org
Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with
sequence variations in more than 10 genes; in some cases, it is caused by large deletions or …

[图书][B] Sindrom Kelainan Saraf: Penuntun Diagnosis Praktis

SE Asra Al Fauzi, S MM - 2022 - books.google.com
Sindrom dalam penyakit saraf juga sangat bervariasi dan sangat banyak jumlahnya.
Sampai saat ini belum ada buku literatur dalam Bahasa Indonesia yang khusus membahas …

Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.

SJY Sung JiYeon, BEJ Bae EunJung… - 2014 - cabidigitallibrary.org
Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with
sequence variations in more than 10 genes; in some cases, it is caused by large deletions or …

Identification and characterisation of new models for age-related hearing loss

P Jeyarajan - 2014 - ora.ox.ac.uk
Age-related hearing loss (ARHL), or Presbycusis, is the most prevalent sensory impairment
observed in the elderly. It is a progressive, symmetrical, age-related sensorineural hearing …

[PDF][PDF] Beyond Diabetes Mellitus: Close Pathological Association of Mutations of the KCNQ1 Gene with Other Systemic Disorders

S Kapoor - Annals of the Academy of Medicine, Singapore, 2012 - annals.edu.sg
I read with great interest the recent article by Saif et al1 in a recent issue of your esteemed
journal. The article is highly thought provoking. Interestingly, the past few years have seen …