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Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes

Scientific reports, 2020-08, Vol.10 (1), p.13375, Article 13375

2020

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Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss

International journal of molecular sciences, 2020-03, Vol.21 (7), p.2382

2020

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A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan

Journal of the Formosan Medical Association, 2017-09, Vol.116 (9), p.711-719

2017

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KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00816-n/a

2019

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Seizure Recurrence in Children after Stopping Antiepileptic Medication: 5-Year Follow-Up

Pediatrics and neonatology, 2017-08, Vol.58 (4), p.338-343

2017

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The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model

Cells (Basel, Switzerland), 2020-05, Vol.9 (5), p.1291

2020

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Ferulic acid-mediated protection against neomycin-induced hair cell loss in transgenic zebrafish

Journal of functional foods, 2017-01, Vol.28, p.157-167

2017

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Evaluation of genotoxic risk and oxidative DNA damage in mammalian cells exposed to mycotoxins, patulin and citrinin

Toxicology and applied pharmacology, 2003-09, Vol.191 (3), p.255-263

2003

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Lenticulostriate Vasculopathy in Brain Ultrasonography is Associated with Cytomegalovirus Infection in Newborns

Pediatrics and neonatology, 2015-12, Vol.56 (6), p.408-414

2015

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A novel missense mutation in the connexin30 causes nonsyndromic hearing loss

PloS one, 2011-06, Vol.6 (6), p.e21473-e21473

2011

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Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30

European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.1061-1064

2010

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Identification of Mutations in Members of the Connexin Gene Family as a Cause of Nonsyndromic Deafness in Taiwan

Audiology & neurotology, 2007-01, Vol.12 (3), p.198-208

2007

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A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study

Journal of personalized medicine, 2020-12, Vol.10 (4), p.281

2020

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Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss

Human genetics, 2010-05, Vol.127 (5), p.545-551

2010

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KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype

Journal of child neurology, 2017-07, Vol.32 (8), p.704-711

2017

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Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea

Biochemical and biophysical research communications, 2005-12, Vol.338 (2), p.723-728

2005

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Protective Role of Vernonia Amygdalina Leaf Aqueous Extract Against Neomycin-Induced Hair Cell Damage in Transgenic Zebrafish

Current topics in nutraceuticals research, 2020-11, Vol.18 (4), p.366-372

2020

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Prognostic Factors for Outcome in Pediatric Probable Lesional Frontal Lobe Epilepsy With an Unknown Cause (Cryptogenic)

Journal of child neurology, 2014-12, Vol.29 (12), p.1660-1663

2014

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Polymorphisms of the RET Gene in Hirschsprung Disease, Anorectal Malformation and Intestinal Pseudo-obstruction in Taiwan

Journal of the Formosan Medical Association, 2010, Vol.109 (1), p.32-38

2010

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Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan

European journal of human genetics : EJHG, 2002-08, Vol.10 (8), p.495-498

2002

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Functional study of the effect of phosphatase inhibitors on KCNQ4 channels expressed in Xenopus oocytes

Acta pharmacologica Sinica, 2009-09, Vol.30 (9), p.1220-1226

2009

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Increased (CTG/CAG)n lengths in myotonic dystrophy type 1 and Machado–Joseph disease genes in idiopathic azoospermia patients

Human reproduction (Oxford), 2002-06, Vol.17 (6), p.1578-1583

2002

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Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan

Journal of human genetics, 2005-04, Vol.50 (4), p.168-174

2005

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Mechanism of Two Novel Human GJC3 Missense Mutations in Causing Non-Syndromic Hearing Loss

Cell biochemistry and biophysics, 2013-06, Vol.66 (2), p.277-286

2013

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Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation

Human genetics, 2010-09, Vol.128 (3), p.303-313

2010

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Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes

Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss

A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan

KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series

Seizure Recurrence in Children after Stopping Antiepileptic Medication: 5-Year Follow-Up

The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model

Ferulic acid-mediated protection against neomycin-induced hair cell loss in transgenic zebrafish

Evaluation of genotoxic risk and oxidative DNA damage in mammalian cells exposed to mycotoxins, patulin and citrinin

Lenticulostriate Vasculopathy in Brain Ultrasonography is Associated with Cytomegalovirus Infection in Newborns

A novel missense mutation in the connexin30 causes nonsyndromic hearing loss

Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30

Identification of Mutations in Members of the Connexin Gene Family as a Cause of Nonsyndromic Deafness in Taiwan

A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study

Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss

KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype

Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea

Protective Role of Vernonia Amygdalina Leaf Aqueous Extract Against Neomycin-Induced Hair Cell Damage in Transgenic Zebrafish

Prognostic Factors for Outcome in Pediatric Probable Lesional Frontal Lobe Epilepsy With an Unknown Cause (Cryptogenic)

Polymorphisms of the RET Gene in Hirschsprung Disease, Anorectal Malformation and Intestinal Pseudo-obstruction in Taiwan

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan

Functional study of the effect of phosphatase inhibitors on KCNQ4 channels expressed in Xenopus oocytes

Increased (CTG/CAG)n lengths in myotonic dystrophy type 1 and Machado–Joseph disease genes in idiopathic azoospermia patients

Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan

Mechanism of Two Novel Human GJC3 Missense Mutations in Causing Non-Syndromic Hearing Loss

Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation

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