PMC Articles for MedGen (Select 1646925) - PMC

Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno, Takuma Ishii, Kazuyuki Matsushita, Osamu Ohara, Naoki Shimojo, Yoshio Kobayashi, Fumio Nomura

BMC Med Genet. 2017; 18: 66. Published online 2017 Jun 8. doi: 10.1186/s12881-017-0430-7

PMCID:: PMC5465588

Abstract Article PDF–1.5M

Select item 104227154.

Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome

Nongnong Zhao, Zhengyang Yu, Zhejun Cai, Wenai Chen, Xiaopeng He, Zhaoxia Huo, Xiaoping Lin

BMC Cardiovasc Disord. 2023; 23: 399. Published online 2023 Aug 12. doi: 10.1186/s12872-023-03417-2

PMCID:: PMC10422715

Abstract Article PDF–1.7M

Select item 98878675.

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, Laura Rabaut, Hein Heidbuchel, Lut Van Laer, Johan Saenen, Alain J. Labro, Bart Loeys

Orphanet J Rare Dis. 2023; 18: 23. Published online 2023 Jan 31. doi: 10.1186/s13023-023-02618-4

PMCID:: PMC9887867

Abstract Article PDF–1.3M

Select item 98653426.

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants

Susanne Rinné, Annemarie Oertli, Claudia Nagel, Philipp Tomsits, Tina Jenewein, Stefan Kääb, Silke Kauferstein, Axel Loewe, Britt Maria Beckmann, Niels Decher

Int J Mol Sci. 2023 Jan; 24(2): 1350. Published online 2023 Jan 10. doi: 10.3390/ijms24021350

PMCID:: PMC9865342

Abstract Article PDF–3.0M

Select item 85605567.

Genetic Testing Hearing Loss: The Challenge of Non Syndromic Mimics

Catherine Gooch, Natasha Rudy, Richard JH Smith, Nathaniel H. Robin

Int J Pediatr Otorhinolaryngol. Author manuscript; available in PMC 2022 Nov 1.

Published in final edited form as: Int J Pediatr Otorhinolaryngol. 2021 Nov; 150: 110872. Published online 2021 Aug 16. doi: 10.1016/j.ijporl.2021.110872

PMCID:: PMC8560556

Abstract Article PDF–56K

Select item 78468458.

Gene therapy via canalostomy approach preserves auditory and vestibular functions in a mouse model of Jervell and Lange-Nielsen syndrome type 2

Xuewen Wu, Li Zhang, Yihui Li, Wenjuan Zhang, Jianjun Wang, Cuiyun Cai, Xi Lin

Nat Commun. 2021; 12: 697. Published online 2021 Jan 29. doi: 10.1038/s41467-020-20808-7

PMCID:: PMC7846845

Abstract Article PDF–3.5M

Select item 72463979.

Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family

Yue Qiu, Sen Chen, Xia Wu, Wen-Juan Zhang, Wen Xie, Yuan Jin, Le Xie, Kai Xu, Xue Bai, Hui-Min Zhang, Xiao-Zhou Liu, Xiao-Hui Wang, Yu Sun, Wei-Jia Kong

Neural Plast. 2020; 2020: 3569359. Published online 2020 May 16. doi: 10.1155/2020/3569359

PMCID:: PMC7246397

Abstract Article PDF–941K

Select item 632832110.

Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

Rabia Faridi, Risa Tona, Alessandra Brofferio, Michael Hoa, Rafal Olszewski, Isabelle Schrauwen, Muhammad Z.K. Assir, Akhtar A. Bandesha, Asma A. Khan, Atteeq U. Rehman, Carmen Brewer, Wasim Ahmed, Suzanne M. Leal, Sheikh Riazuddin, Steven E. Boyden, Thomas B. Friedman

Hum Mutat. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Hum Mutat. 2019 Feb; 40(2): 162–176. Published online 2018 Dec 12. doi: 10.1002/humu.23689

PMCID:: PMC6328321

Abstract Article PDF–1.0M

Select item 573593611.

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2

PMCID:: PMC5735936

Abstract Article PDF–1.1M

Select item 564417712.

“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”

Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M. Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G. Temel

BMC Med Genet. 2017; 18: 114. Published online 2017 Oct 16. doi: 10.1186/s12881-017-0474-8

PMCID:: PMC5644177

Abstract Article PDF–3.2M

Select item 537648513.

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

N. Adadi, N. Lahrouchi, R. Bouhouch, I. Fellat, R. Amri, M. Alders, A. Sefiani, C. Bezzina, I. Ratbi

J Med Case Rep. 2017; 11: 88. Published online 2017 Apr 2. doi: 10.1186/s13256-017-1243-1

PMCID:: PMC5376485

Abstract Article PDF–870K

Select item 427333114.

Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: Disease mechanisms and pharmacological rescue

Miao Zhang, Cristina D’Aniello, Arie O. Verkerk, Eva Wrobel, Stefan Frank, Dorien Ward-van Oostwaard, Ilaria Piccini, Christian Freund, Jyoti Rao, Guiscard Seebohm, Douwe E. Atsma, Eric Schulze-Bahr, Christine L. Mummery, Boris Greber, Milena Bellin

Proc Natl Acad Sci U S A. 2014 Dec 16; 111(50): E5383–E5392. Published online 2014 Dec 1. doi: 10.1073/pnas.1419553111

PMCID:: PMC4273331

Abstract Article PDF–2.7M

Select item 415101115.

Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome

Ji Yeon Sung, Eun Jung Bae, Seungman Park, So Yeon Kim, Ye Jin Hyun, Sung Sup Park, Moon-Woo Seong

Ann Lab Med. 2014 Sep; 34(5): 395–398. Published online 2014 Aug 21. doi: 10.3343/alm.2014.34.5.395

PMCID:: PMC4151011

Abstract Article PDF–768K

Select item 394392516.

Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort

Ruey-Kang R. Chang, Yueh-Tze Lan, Michael J. Silka, Hallie Morrow, Alan Kwong, Janna Smith-Lang, Robert Wallerstein, Henry J. Lin

J Pediatr. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: J Pediatr. 2014 Mar; 164(3): 590–595.e3. Published online 2013 Dec 31. doi: 10.1016/j.jpeds.2013.11.011

PMCID:: PMC3943925

Abstract Article PDF–2.2M

Select item 394220717.

Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families

Annika Winbo, Eva-Lena Stattin, Charlotte Nordin, Ulla-Britt Diamant, Johan Persson, Steen M Jensen, Annika Rydberg

BMC Cardiovasc Disord. 2014; 14: 22. Published online 2014 Feb 19. doi: 10.1186/1471-2261-14-22

PMCID:: PMC3942207

Abstract Article PDF–1.0M

Select item 386116318.

Novel mutations of KCNQ1 in Long QT syndrome

Sameera F. Qureshi, Altaf Ali, Venkateshwari Ananthapur, M.P. Jayakrishnan, Narasimhan Calambur, Kumarasamy Thangaraj, Pratibha Nallari

Indian Heart J. 2013 Sep; 65(5): 552–560. doi: 10.1016/j.ihj.2013.08.025

PMCID:: PMC3861163

Abstract Article PDF–3.5M

Select item 368357219.

Prevalence and Potential Genetic Determinants of Sensorineural Deafness in KCNQ1 Homozygosity and Compound Heterozygosity

John R. Giudicessi, Michael J. Ackerman

Circ Cardiovasc Genet. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Circ Cardiovasc Genet. 2013 Apr; 6(2): 193–200. Published online 2013 Feb 7. doi: 10.1161/CIRCGENETICS.112.964684

PMCID:: PMC3683572

Abstract Article PDF–1.6M

Select item 315575620.

Risk of Recurrent Cardiac Events after Onset of Menopause in Women with Congenital Long-QT Syndrome Types 1 and 2

Jonathan Buber, Jehu Mathew, Arthur J. Moss, W. Jackson Hall, Alon Barsheshet, Scott McNitt, Jennifer L. Robinson, Wojciech Zareba, Michael J. Ackerman, Elizabeth S. Kaufman, David Luria, Michael Eldar, Jeffrey A. Towbin, Michael Vincent, Ilan Goldenberg

Circulation. Author manuscript; available in PMC 2012 Jun 21.

Published in final edited form as: Circulation. 2011 Jun 21; 123(24): 2784–2791. Published online 2011 May 31. doi: 10.1161/CIRCULATIONAHA.110.000620

PMCID:: PMC3155756

Abstract Article PDF–371K

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