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Results for
""Syndactyly""[mesh_terms]

22 Results

Searching titles within these results

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.

Congshan Jiang, Yanmin Zhang

Expert reviews in molecular medicine 2023;25():e17

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Repeated cold-water immersion improves autonomic cardiac modulation following five sessions of high-intensity interval exercise.

Elvis Souza Malta, Vithor Hugo Fialho Lopes, Michael R Esco, Alessandro Moura Zagatto

European journal of applied physiology 2023;123(9):1939-1948

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The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.

Saeedeh Askarian, Masoumeh Gholami, Ghazaleh Khalili-Tanha, Negin Chaeichi Tehrani, Mona Joudi, Majid Khazaei, Gordon A Ferns, Seyed Mahdi Hassanian, Amir Avan, Marjan Joodi

Oral and maxillofacial surgery 2023;27(2):177-186

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Hyperinsulinemic Hypoglycemia Associated with a Ca1.2 Variant with Mixed Gain- and Loss-of-Function Effects.

Sebastian Kummer, Susanne Rinné, Gunnar Seemann, Nadine Bachmann, Katherine Timothy, Paul S Thornton, Frank Pillekamp, Ertan Mayatepek, Carsten Bergmann, Thomas Meissner, Niels Decher

International journal of molecular sciences 2022;23(15):8097

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L-type Ca2+ channel function during Timothy syndrome.

Luis F Santana, Rose E Dixon, Edward P Cheng, Jose L Mercado

Trends in cardiovascular medicine 2013;22(3):72-6

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CACNA1C-Related Channelopathies.

Kevin G Herold, John W Hussey, Ivy E Dick

Handbook of experimental pharmacology 2023;279():159-181

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Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C.

Cindy Colson, Hervé Mittre, Adeline Busson, Antoine Leenhardt, Isabelle Denjoy, Véronique Fressard, Yann Troadec

European journal of medical genetics 2019;62(7):103648

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Novel Timothy syndrome mutation leading to increase in CACNA1C window current.

Nicole J Boczek, Erin M Miller, Dan Ye, Vladislav V Nesterenko, David J Tester, Charles Antzelevitch, Richard J Czosek, Michael J Ackerman, Stephanie M Ware

Heart rhythm 2015;12(1):211-9

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Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

Xiuli Zhao, Miao Sun, Jin Zhao, J Alfonso Leyva, Hongwen Zhu, Wei Yang, Xuan Zeng, Yang Ao, Qing Liu, Guoyang Liu, Wilson H Y Lo, Ethylin Wang Jabs, L Mario Amzel, Xiangnian Shan, Xue Zhang

American journal of human genetics 2007;80(2):361-71

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A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.

Jessica A Hennessey, Nicole J Boczek, Yong-Hui Jiang, Joelle D Miller, William Patrick, Ryan Pfeiffer, Brittan S Sutphin, David J Tester, Hector Barajas-Martinez, Michael J Ackerman, Charles Antzelevitch, Ronald Kanter, Geoffrey S Pitt

PloS one 2015;9(9):e106982

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Two novel GJA1 variants in oculodentodigital dysplasia.

Nikolai P Pace, Valerie Benoit, David Agius, Maria Angela Grima, Raymond Parascandalo, Pascale Hilbert, Isabella Borg

Molecular genetics & genomic medicine 2020;7(9):e882

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Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.

Matthew J Betzenhauser, Geoffrey S Pitt, Charles Antzelevitch

Current molecular pharmacology 2016;8(2):133-42

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Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.

Zhirong Wang, Limei Sun, Panfeng Wang, Chonglin Chen, Aiyuan Zhang, Weiqing Wang, Xiaoyan Ding

Ophthalmic genetics 2020;40(1):54-59

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Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.

Hao Deng, Ting Tan, Quanyong He, Qiongfen Lin, Zhijian Yang, Anding Zhu, Liping Guan, Jingjing Xiao, Zhi Song, Yi Guo

Molecular medicine reports 2018;16(1):473-477

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Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.

Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Amir Hooshang Bavarsad, Saeed Tizno

International journal of pediatric otorhinolaryngology 2017;97():192-196

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Results: 1 – 15 / 22

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Results for ""Syndactyly""[mesh_terms]

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.

Repeated cold-water immersion improves autonomic cardiac modulation following five sessions of high-intensity interval exercise.

The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.

Hyperinsulinemic Hypoglycemia Associated with a Ca1.2 Variant with Mixed Gain- and Loss-of-Function Effects.

L-type Ca2+ channel function during Timothy syndrome.

CACNA1C-Related Channelopathies.

Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C.

Novel Timothy syndrome mutation leading to increase in CACNA1C window current.

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.

Two novel GJA1 variants in oculodentodigital dysplasia.

Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.

Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.

Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.

Results for
""Syndactyly""[mesh_terms]