177 related articles for article (PubMed ID: 30099333)
1. Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives.
Kasai-Brunswick TH; Silva Dos Santos D; Ferreira RP; Araujo DS; Dias GM; Coutinho JLA; Cruz FESF; Sternick EB; Gubert F; Oliveira JCG; Vaz IM; Borgonovo T; Brofman PRS; Moura-Neto RS; Silva R; Campos-de-Carvalho AC; Carvalho AB
Stem Cell Res; 2018 Aug; 31():174-180. PubMed ID: 30099333
[TBL] [Abstract][Full Text] [Related]
2. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.
Mura M; Lee YK; Ginevrino M; Zappatore R; Pisano F; Boni M; Dagradi F; Crotti L; Valente EM; Schwartz PJ; Tse HF; Gnecchi M
Stem Cell Res; 2018 May; 29():157-161. PubMed ID: 29677589
[TBL] [Abstract][Full Text] [Related]
3. Generation of four patient-specific pluripotent induced stem cell lines from two Brazilian patients with amyotrophic lateral sclerosis and two healthy subjects.
Gubert F; Vasques JF; Cozendey TD; Domizi P; Toledo MF; Kasai-Brunswick TH; Loureiro MPS; Lima JMB; Gress CH; Cabello GMK; Cabello PH; Borgonovo T; Vaz IM; Silva R; Mendez-Otero R
Stem Cell Res; 2019 May; 37():101448. PubMed ID: 31077962
[TBL] [Abstract][Full Text] [Related]
4. Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
Vallejo-Diez S; Fleischer A; Martín-Fernández JM; Sánchez-Gilabert A; Bachiller D
Stem Cell Res; 2018 Dec; 33():180-184. PubMed ID: 30408744
[TBL] [Abstract][Full Text] [Related]
5. Establishment of iPSC line from a Chinese infant (XACHi012-A) with Jervell and Lange-Nielsen syndrome carrying combined KCNQ1 frameshift c.431delC(p.I145Sfs*92) and nonsense c.1175G > A (p.W392X) variants and two iPSC lines from the parents (XACHi013-A, XACHi014-A).
Zhou Y; Wang J; Li H; Li A; Wang G; Tan X; Lei M; Zhang Y
Stem Cell Res; 2021 May; 53():102391. PubMed ID: 34088017
[TBL] [Abstract][Full Text] [Related]
6. Generation of patient-specific pluripotent induced stem cell line UFRJi007-A from a Brazilian familial amyotrophic lateral sclerosis patient.
Gubert F; Vasques JF; Cozendey TD; Domizi P; Toledo MF; Kasai-Brunswick TH; Hochman-Mendez C; Junior MC; Zembrzuski VM; Loureiro MPS; Lima JMB; Gress CH; Cabello GMK; Cabello PH; Borgonovo T; Vaz IM; Silva R; Mendez-Otero R
Stem Cell Res; 2019 Aug; 39():101490. PubMed ID: 31301488
[TBL] [Abstract][Full Text] [Related]
7. Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.
Zhang M; D'Aniello C; Verkerk AO; Wrobel E; Frank S; Ward-van Oostwaard D; Piccini I; Freund C; Rao J; Seebohm G; Atsma DE; Schulze-Bahr E; Mummery CL; Greber B; Bellin M
Proc Natl Acad Sci U S A; 2014 Dec; 111(50):E5383-92. PubMed ID: 25453094
[TBL] [Abstract][Full Text] [Related]
8. Generation of two induced pluripotent stem cell lines (RCMGi005-A/B) from human skin fibroblasts of a cystic fibrosis patient with homozygous F508del mutation in CFTR gene.
Panchuk I; Kondrateva E; Demchenko A; Grigorieva O; Erofeeva A; Amelina E; Tabakov V; Orlova M; Voronina E; Pozhitnova V; Lavrov A; Smirnikhina S; Kutsev S
Stem Cell Res; 2022 Oct; 64():102896. PubMed ID: 36067639
[TBL] [Abstract][Full Text] [Related]
9. [Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].
Liu WL; Hu DY; Li P; Li CL; Qin XG; Li YT; Li L; Li ZM; Dong W; Qi Y; Wang Q
Zhonghua Xin Xue Guan Bing Za Zhi; 2005 Jan; 33(1):41-4. PubMed ID: 15924777
[TBL] [Abstract][Full Text] [Related]
10. 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.
Nishimura M; Ueda M; Ebata R; Utsuno E; Ishii T; Matsushita K; Ohara O; Shimojo N; Kobayashi Y; Nomura F
BMC Med Genet; 2017 Jun; 18(1):66. PubMed ID: 28595573
[TBL] [Abstract][Full Text] [Related]
11. Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.
Bersell K; Montgomery JA; Kanagasundram AN; Campbell CM; Chung WK; Macaya D; Konecki D; Venter E; Shoemaker MB; Roden DM
Circ Arrhythm Electrophysiol; 2016 Jun; 9(6):. PubMed ID: 27286732
[No Abstract] [Full Text] [Related]
12. 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]
13. Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome.
Cepeda-Nieto AC; Zamora-Alemán CR; Cortes-Aguirre M; Valdés-Charles R; Rojas-Sánchez C; Salinas-Santander MA; Hu D; Barajas-Martinez H
Cardiol J; 2021; 28(5):786-789. PubMed ID: 34165182
[No Abstract] [Full Text] [Related]
14. Jervell-Lange Nielsen syndrome in a family with the long QT syndrome (LQTS).
Shanbag P
Indian J Pediatr; 2007 Jan; 74(1):90; author reply 90. PubMed ID: 17264466
[No Abstract] [Full Text] [Related]
15. Generation of induced pluripotent stem cell line (FMCPGHi001-A) from a 25-year-old Chinese Han healthy male donor.
Wang T; Tang W; Zeng Q; Miao S; Pi C; Li Y; Yue W; Yu S
Stem Cell Res; 2022 Apr; 60():102735. PubMed ID: 35247846
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. Propranolol syrup to tablets change triggers electrical storm in Jervell-Lange-Nielsen syndrome.
Ramos-Jiménez J; Sánchez-Perez I; Moreno-Mata N; Moreno-Planas J
Cardiol Young; 2021 Jan; 31(1):141-143. PubMed ID: 33046158
[TBL] [Abstract][Full Text] [Related]
18. Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene.
Singh A; Prasad R; Singh R; Kapoor S; Bhuiyan ZA; Mishra OP
Indian J Pediatr; 2016 Sep; 83(9):1038-9. PubMed ID: 26939673
[No Abstract] [Full Text] [Related]
19. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1.
Mura M; Bastaroli F; Corli M; Ginevrino M; Calabrò F; Boni M; Crotti L; Valente EM; Schwartz PJ; Gnecchi M
Stem Cell Res; 2020 Jan; 42():101658. PubMed ID: 31785541
[TBL] [Abstract][Full Text] [Related]
20. George M. Cober Lecturer: Mark T. Keating. Molecular basis of the long-QT syndrome associated with deafness.
Splawski I; Timothy KW; Vincent GM; Atkinson DL; Keating MT
Proc Assoc Am Physicians; 1997 Sep; 109(5):504-11. PubMed ID: 9285950
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
