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[Jervell and Lange-Nielsen syndrome].
Zhang WJ, Sun Y, Kong WJ. Zhang WJ, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019 Sep;33(9):825-829. doi: 10.13201/j.issn.1001-1781.2019.09.007. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019. PMID: 31446697 Review. Chinese.
Summary Jervell and Lange-Nielsen syndrome(JLNS) is an autosomal recessive hereditary disease characterized by congenital severe sensorineural hearing loss in both ears and severe arrhythmias with QT interval prolongation. ...
Summary Jervell and Lange-Nielsen syndrome(JLNS) is an autosomal recessive hereditary disease characterized by c …
Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature.
Eftekharian A, Mahani MH. Eftekharian A, et al. Int J Pediatr Otorhinolaryngol. 2015 Sep;79(9):1544-7. doi: 10.1016/j.ijporl.2015.07.012. Epub 2015 Jul 14. Int J Pediatr Otorhinolaryngol. 2015. PMID: 26205899 Review.
OBJECTIVES: To share our experience in cochlear implanted patients with Jervell and Lange-Nielsen syndrome (JLNS), to review the literature results and to disclose precautions which have to be taken dealing with these patients. MATERIALS AND METHODS: E …
OBJECTIVES: To share our experience in cochlear implanted patients with Jervell and Lange-Nielsen syndrome (JLNS …
[Hereditary hearing loss].
Tropitzsch A, Schade-Mann T, Gamerdinger P. Tropitzsch A, et al. HNO. 2023 Feb;71(2):131-142. doi: 10.1007/s00106-022-01254-x. Epub 2022 Dec 16. HNO. 2023. PMID: 36526931 Review. German.
This review article explains the classification of genetic hearing loss into syndromic versus non-syndromic forms and the modes of inheritance involved. Some of the most common syndromes (Usher, Pendred, Jervell-Lange-Nielsen, Waardenburg, branchiootorenal, a …
This review article explains the classification of genetic hearing loss into syndromic versus non-syndromic forms and the modes of inheritan …
Cochlear implantation in patients with Jervell and Lange-Nielsen syndrome, and a review of literature.
Yanmei F, Yaqin W, Haibo S, Huiqun Z, Zhengnong C, Dongzhen Y, Shankai Y. Yanmei F, et al. Int J Pediatr Otorhinolaryngol. 2008 Nov;72(11):1723-9. doi: 10.1016/j.ijporl.2008.07.013. Epub 2008 Sep 20. Int J Pediatr Otorhinolaryngol. 2008. PMID: 18805595 Review.
Jervell and Lange-Nielsen syndrome is characterized by a long QT interval in electrocardiography, syncopal attacks and congenital sensorineural hearing loss. ...Cochlear implantation is indicated for hearing rehabilitation in this syndrome with …
Jervell and Lange-Nielsen syndrome is characterized by a long QT interval in electrocardiography, syncopal attac …
[Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome].
Mönnig G, Schulze-Bahr E, Wedekind H, Eckardt L, Kirchhof P, Funke H, Kotthoff S, Vogt J, Assmann G, Breithardt G, Haverkamp W. Mönnig G, et al. Z Kardiol. 2002 May;91(5):380-8. doi: 10.1007/s00392-002-0789-z. Z Kardiol. 2002. PMID: 12132284 Review. German.
In contrast to the Romano-Ward (R-W) syndrome, the Jervell and Lange-Nielsen (J-LN) syndrome is an autosomal recessive inherited disease characterized by QT-prolongation in the electrocardiogram (ECG) and recurrent syncopal attacks which are als …
In contrast to the Romano-Ward (R-W) syndrome, the Jervell and Lange-Nielsen (J-LN) syndrome is an autoso …
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
Vyas B, Puri RD, Namboodiri N, Nair M, Sharma D, Movva S, Saxena R, Bohora S, Aggarwal N, Vora A, Kumar J, Singh T, Verma IC. Vyas B, et al. Am J Med Genet A. 2016 Jun;170(6):1510-9. doi: 10.1002/ajmg.a.37636. Epub 2016 Apr 4. Am J Med Genet A. 2016. PMID: 27041150 Review.
Long QT syndrome type 1 (LQT1) is the most common type of all Long QT syndromes (LQTS) and occurs due to mutations in KCNQ1. Biallelic mutations with deafness is called Jervell and Lange-Nielsen syndrome (JLNS) and without deafness is aut …
Long QT syndrome type 1 (LQT1) is the most common type of all Long QT syndromes (LQTS) and occurs due to mutations in KCNQ1. B …
[Genetic deafness].
Marcolla A, Bouchetemble P, Lerosey Y, Marie JP, Dehesdin D. Marcolla A, et al. Ann Otolaryngol Chir Cervicofac. 2006 Jun;123(3):143-7. doi: 10.1016/s0003-438x(06)76655-5. Ann Otolaryngol Chir Cervicofac. 2006. PMID: 16840903 Review. French.
RESULTS: Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness. A frequent cause is Pendred syndrome, which associates congenital sensorineural deafness with goitre and malformations of the inner ear which can be identified on computed tomogr …
RESULTS: Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness. A frequent cause is Pendred syndrome, …
The genetics of deafness.
Nance WE. Nance WE. Ment Retard Dev Disabil Res Rev. 2003;9(2):109-19. doi: 10.1002/mrdd.10067. Ment Retard Dev Disabil Res Rev. 2003. PMID: 12784229 Review.
Congenital long QT syndrome.
Crotti L, Celano G, Dagradi F, Schwartz PJ. Crotti L, et al. Orphanet J Rare Dis. 2008 Jul 7;3:18. doi: 10.1186/1750-1172-3-18. Orphanet J Rare Dis. 2008. PMID: 18606002 Free PMC article. Review.
Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. ...However, there are a few exceptions: patients with Timothy syndrome, patients wi …
Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG an …
Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families.
Amirian A, Zafari Z, Karimipoor M, Kordafshari A, Dalili M, Saber S, Farjam Fazelifar A, Zeinali S. Amirian A, et al. Iran Biomed J. 2019 May;23(3):228-34. doi: 10.29252/.23.3.228. Epub 2019 Feb 24. Iran Biomed J. 2019. PMID: 30797226 Free PMC article. Review.
BACKGROUND: Long QT syndrome (LQTS) is characterized by the prolongation of QT interval, which results in syncope and sudden cardiac death in young people. KCNQ1 is the most common gene responsible for this syndrome. METHODS: Molecular investigation was performed by …
BACKGROUND: Long QT syndrome (LQTS) is characterized by the prolongation of QT interval, which results in syncope and sudden cardiac …
25 results