Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements-Reference-Cited by-同舟云学术

Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements

Published:2020-07-09 Issue:9 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Lee Ah J.¹,Nam Da E.¹,Choi Yu J.¹,Noh Seung W.¹,Nam Soo H.²,Lee Hye J.³,Kim Seung J.³,Song Gyun J.⁴,Choi Byung‐Ok²³,Chung Ki W.¹^ORCID

Affiliation:

1. Department of Biological Sciences Kongju National University Gongju Korea

2. Stem Cell & Regenerative Medicine Institute Samsung Medical Center Seoul Korea

3. Department of Neurology Samsung Medical CenterSungkyunkwan University School of Medicine Seoul Korea

4. Department of Medical Science Institute for Bio‐Medical ConvergenceCatholic Kwandong UniversityInternational St. Mary's Hospital Incheon Korea

Funder

National Research Foundation of Korea

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1380

Reference35 articles.

1. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases

2. Genetic modifiers and non-Mendelian aspects of CMT

3. Prevalence and origin of de novo duplications in Charcot‐Marie‐Tooth disease type 1A: First report of a de novo duplication with a maternal origin;Blair I. P.;American Journal of Human Genetics,1996

4. Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation

5. DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Comparative Analysis on Methylation Levels of Nerve and Stress Related Genes in Charcot-Marie-Tooth Disease Type 1A Patients;Journal of the Korean Neurological Association;2024-05-01

2. A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A;Journal of the Peripheral Nervous System;2024-04-05

3. Charcot-Marie-Tooth Disease of the Foot and Ankle: Imaging Features and Pathophysiology;RadioGraphics;2023-04-01

4. Genotype–phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients;European Journal of Neurology;2023-02-05

5. INF2 mutations in patients with a broad phenotypic spectrum of Charcot‐Marie‐Tooth disease and focal segmental glomerulosclerosis;Journal of the Peripheral Nervous System;2023-01-20