423 related articles for article (PubMed ID: 29270100)
21. LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.
Jackson HA; McIntosh S; Whittome B; Asuri S; Casey B; Kerr C; Tang A; Arbour LT
Clin Genet; 2014 Jul; 86(1):85-90. PubMed ID: 23844633
[TBL] [Abstract][Full Text] [Related]
22. Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous
Qiu Y; Chen S; Wu X; Zhang WJ; Xie W; Jin Y; Xie L; Xu K; Bai X; Zhang HM; Liu XZ; Wang XH; Sun Y; Kong WJ
Neural Plast; 2020; 2020():3569359. PubMed ID: 32508908
[TBL] [Abstract][Full Text] [Related]
23. [KCNQ 1 (KvLQT1) missense mutation causing congenital long QT syndrome (Jervell-Lange-Nielsen) in a Mexican family].
Márquez MF; Ramos-Kuri M; Hernández-Pacheco G; Estrada J; Fabregat JR; Pérez-Vielma N; Gómez-Flores J; González-Hermosillo A; Cárdenas M; Vargas-Alarcón G
Arch Cardiol Mex; 2006; 76(3):257-62. PubMed ID: 17091796
[TBL] [Abstract][Full Text] [Related]
24. The combined novel KCNQ1 frameshift I145Sfs*92 and nonsense W392X variants caused Jervell and Lange-Nielsen syndrome in a Chinese infant presenting with sustained foetal bradycardia.
Zhang Y; Li X; Yang Y; Wang J; Gao X; Fan M
Europace; 2020 Dec; 22(12):1880-1884. PubMed ID: 32830254
[TBL] [Abstract][Full Text] [Related]
25. Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.
Baek JS; Bae EJ; Lee SY; Park SS; Kim SY; Jung KN; Noh CI
J Korean Med Sci; 2010 Oct; 25(10):1522-5. PubMed ID: 20890437
[TBL] [Abstract][Full Text] [Related]
26. Hereditary hemochromatosis in a Brazilian university hospital in São Paulo State (1990-2000).
Martinelli AL; Filho R; Cruz S; Franco R; Tavella M; Secaf M; Ramalho L; Zucoloto S; Rodrigues S; Zago M
Genet Mol Res; 2005 Mar; 4(1):31-8. PubMed ID: 15841433
[TBL] [Abstract][Full Text] [Related]
27. A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.
Ohno S; Kubota T; Yoshida H; Tsuji K; Makiyama T; Yamada S; Kuga K; Yamaguchi I; Kita T; Horie M
Circ J; 2008 May; 72(5):687-93. PubMed ID: 18441444
[TBL] [Abstract][Full Text] [Related]
28. Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.
Wang C; Lu Y; Cheng J; Zhang L; Liu W; Peng W; Zhang D; Duan H; Han D; Yuan H
Acta Otolaryngol; 2017 May; 137(5):522-528. PubMed ID: 27917693
[TBL] [Abstract][Full Text] [Related]
29. Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R; Tona R; Brofferio A; Hoa M; Olszewski R; Schrauwen I; Assir MZK; Bandesha AA; Khan AA; Rehman AU; Brewer C; Ahmed W; Leal SM; Riazuddin S; Boyden SE; Friedman TB
Hum Mutat; 2019 Feb; 40(2):162-176. PubMed ID: 30461122
[TBL] [Abstract][Full Text] [Related]
30. Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K; Al-Owain M; Al-Numair NS; Afzal S; Al-Ageel S; Al-Amer S; Al-Baik L; Al-Otaibi GF; Hashem A; Al-Mashharawi E; Basit S; Al-Mazroea AH; Softah A; Sogaty S; Imtiaz F
Am J Med Genet B Neuropsychiatr Genet; 2020 Apr; 183(3):172-180. PubMed ID: 31854501
[TBL] [Abstract][Full Text] [Related]
31. Mutations of the HFE gene among Turkish hereditary hemochromatosis patients.
Simsek H; Balaban YH; Yilmaz E; Sumer H; Buyukasik Y; Cengiz C; Ozcebe O; Hascelik G; Tatar G
Ann Hematol; 2005 Oct; 84(10):646-9. PubMed ID: 15871018
[TBL] [Abstract][Full Text] [Related]
32. Low frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis.
Milić S; Ristić S; Starčević-Čizmarević N; Brajenović-Milić B; Crnić-Martinović M; Kapović M; Peterlin B; Štimac D
Med Sci Monit; 2011 Oct; 17(10):CR552-6. PubMed ID: 21959608
[TBL] [Abstract][Full Text] [Related]
33. Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families.
Amirian A; Zafari Z; Dalili M; Saber S; Karimipoor M; Dabbagh Bagheri S; Fazelifar AF; Zeinali S
J Arrhythm; 2018 Jun; 34(3):286-290. PubMed ID: 29951145
[TBL] [Abstract][Full Text] [Related]
34. Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.
Nishio SY; Usami SI
Hum Genet; 2022 Apr; 141(3-4):929-937. PubMed ID: 34523024
[TBL] [Abstract][Full Text] [Related]
35. Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCR-ELISA technique.
Hellerbrand C; Bosserhoff AK; Seegers S; Lingner G; Wrede C; Lock G; Schölmerich J; Büttner R
Scand J Gastroenterol; 2001 Nov; 36(11):1211-6. PubMed ID: 11686223
[TBL] [Abstract][Full Text] [Related]
36. Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.
Adadi N; Lahrouchi N; Bouhouch R; Fellat I; Amri R; Alders M; Sefiani A; Bezzina C; Ratbi I
J Med Case Rep; 2017 Apr; 11(1):88. PubMed ID: 28364778
[TBL] [Abstract][Full Text] [Related]
37. Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.
Kılıç E; Ertuğrul İ; Özer S; Alikaşifoğlu M; Aktaş D; Boduroğlu K; Ütine GE
Turk J Pediatr; 2014; 56(5):542-5. PubMed ID: 26022593
[TBL] [Abstract][Full Text] [Related]
38. Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.
Morgat C; Fressart V; Porretta AP; Neyroud N; Messali A; Temmar Y; Algalarrondo V; Surget E; Bloch A; Leenhardt A; Denjoy I; Extramiana F
Europace; 2024 Jun; 26(6):. PubMed ID: 38825991
[TBL] [Abstract][Full Text] [Related]
39. QTc prolongation in patients with hearing loss: Electrocardiographic and genetic study.
Sanecka A; Biernacka EK; Szperl M; Sosna M; Mueller-Malesińska M; Kozicka U; Baranowski R; Kosiec A; Łazarczyk H; Skarżyński H; Hoffman P; Bieganowska K; Piotrowicz R
Cardiol J; 2016; 23(1):34-41. PubMed ID: 26412604
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
