Novel presentation of SCN5A nonsense mutation as SCN5A overlap syndrome

HeartRhythm Case Reports ◽

10.1016/j.hrcr.2021.12.014 ◽

2021 ◽

Author(s):

Hyo-Jeong Ahn ◽

So-Ryoung Lee ◽

Jangsup Moon ◽

Eue-Keun Choi ◽

Seil Oh

Keyword(s):

Nonsense Mutation ◽

Overlap Syndrome

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Lichen planus and discoid lupud erythematosus. Overlap syndrome associated with cryoglobulinemia and hypocomplementemia

Archives of Dermatology ◽

10.1001/archderm.114.7.1039 ◽

1978 ◽

Vol 114 (7) ◽

pp. 1039-1042 ◽

Author(s):

T. H. Jamison

Keyword(s):

Lichen Planus ◽

Overlap Syndrome

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Ataluren: Clinical Trial Results in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

Neuropediatrics ◽

10.1055/s-0036-1583648 ◽

2016 ◽

Vol 47 (S 01) ◽

Author(s):

U. Schara ◽

C. McDonald ◽

K. Bushby ◽

M. Tulinius ◽

R. Finkel ◽

...

Keyword(s):

Clinical Trial ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Nonsense Mutation ◽

Clinical Trial Results

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Ataluren in Patients Aged  2 to < 5 Years with Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD): 28-week Results from a Phase 2 Study

10.1055/s-0039-1698256 ◽

2019 ◽

Author(s):

Christian Werner ◽

Cuixia Tian ◽

Robert Kong ◽

Edward O’Mara ◽

Traci Schilling ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Nonsense Mutation ◽

Phase 2 ◽

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FUNCTIONAL AND MOLECULAR CHARACTERIZATION OF A NOVEL NONSENSE MUTATION IN IL2RG GENE IN A FAMILY WITH ATYPICAL PRESENTATION

10.26226/morressier.57bc1757d462b80290b4cf31 ◽

2016 ◽

Author(s):

Marina Garcia Prat

Keyword(s):

Molecular Characterization ◽

Nonsense Mutation ◽

Atypical Presentation ◽

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THE CLINICAL AND LABORATORY SPECTRUM OF DEDICATOR OF CYTOKENESIS 8 IMMUNODEFICIENCY SYNDROME IN PATIENTS HARBORING THE SAME NONSENSE MUTATION

10.26226/morressier.57bc1754d462b80290b4d577 ◽

2016 ◽

Author(s):

Arnon Broides

Keyword(s):

Nonsense Mutation ◽

Laboratory Spectrum ◽

Immunodeficiency Syndrome

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Faculty Opinions recommendation of A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1008392.105207 ◽

2002 ◽

Author(s):

Lynne Maquat

Keyword(s):

Marfan Syndrome ◽

Nonsense Mutation ◽

Syndrome Patient ◽

Exonic Splicing Enhancer ◽

Fibrillin 1 ◽

Splicing Enhancer

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Faculty Opinions recommendation of Outcomes in patients with chronic obstructive pulmonary disease and obstructive sleep apnea: the overlap syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.4928958.4859057 ◽

2010 ◽

Author(s):

Rob Basner

Keyword(s):

Chronic Obstructive Pulmonary Disease ◽

Obstructive Sleep Apnea ◽

Sleep Apnea ◽

Pulmonary Disease ◽

Overlap Syndrome ◽

Chronic Obstructive ◽

Obstructive Pulmonary Disease ◽

Obstructive Sleep

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Faculty Opinions recommendation of Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.738390011.793578032 ◽

2020 ◽

Author(s):

Takashi Hashimoto

Keyword(s):

Nonsense Mutation ◽

Skin Fragility ◽

Homozygous Nonsense Mutation

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Possible role of Non-invasive Continuous Positive Pressure Ventilation In Patients With Overlap Syndrome: Obstructive Sleep Apnea And Chronic Obstructive Pulmonary Disease

Zagazig University Medical Journal ◽

10.21608/zumj.2020.29445.1842 ◽

2020 ◽

Vol 0 (0) ◽

pp. 0-0

Author(s):

Rabieh Hussein ◽

Adel Moussa ◽

Reda Elghamry ◽

Mohamed Anwar

Keyword(s):

Chronic Obstructive Pulmonary Disease ◽

Positive Pressure Ventilation ◽

Overlap Syndrome ◽

Positive Pressure ◽

Chronic Obstructive ◽

Obstructive Pulmonary Disease ◽

Non Invasive ◽

Obstructive Sleep ◽

Continuous Positive Pressure

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Asthma COPD Overlap Syndrome: An Approach to A Real -World Endotype in Obstructive Lung Disease?

Current Pharmaceutical Design ◽

10.2174/1381612822666160906162441 ◽

2016 ◽

Vol 22 (41) ◽

pp. 6273-6282 ◽

Author(s):

Maria Laucho-Contreras ◽

Maria Oca ◽

Caroline Owen

Keyword(s):

Lung Disease ◽

Obstructive Lung Disease ◽

Overlap Syndrome

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