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Select item 70450421.

46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China

Jianlian Deng, Haoqing Zhang, Caiyun Li, Hui Huang, Saijun Liu, Huanming Yang, Kaili Xie, Qiong Wang, Dongzhu Lei, Jing Wu

Front Genet. 2019; 10: 1350. Published online 2020 Feb 19. doi: 10.3389/fgene.2019.01350

PMCID:: PMC7045042

Article PDF–1.5M

Select item 70271952.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Article PDF–1.2M

Select item 70107673.

Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy

Xin-Lin Zhang, Jun Xie, Rong-Fang Lan, Li-Na Kang, Lian Wang, Wei Xu, Biao Xu

Sci Rep. 2020; 10: 2226. Published online 2020 Feb 10. doi: 10.1038/s41598-020-58984-7

PMCID:: PMC7010767

Article PDF–1.5M

Select item 70014314.

A Novel Mutation in N-Terminal Actin-Binding Domain of the DMD Gene Presenting Becker Muscular Dystrophy as Recurrent Exertional Rhabdomyolysis: A Case Report

Jong-Mok Lee

Ann Indian Acad Neurol. 2020 Jan-Feb; 23(1): 123–125. doi: 10.4103/aian.AIAN_215_19

PMCID:: PMC7001431

Article PDF–1.2M

Select item 69813235.

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

Mariko Okubo, Satoru Noguchi, Shinichiro Hayashi, Harumasa Nakamura, Hirofumi Komaki, Masafumi Matsuo, Ichizo Nishino

Hum Genet. 2020; 139(2): 247–255. Published online 2020 Jan 9. doi: 10.1007/s00439-019-02107-4

PMCID:: PMC6981323

Article PDF–833K

Select item 69702766.

Preparation and SPECT/CT Imaging of ¹⁷⁷Lu-Labeled Peptide Nucleic Acid (PNA) Targeting CITED1: Therapeutic Evaluation in Tumor-Bearing Nude Mice

Jia Li, Lei Zhang, Wenbo Li, Chengming Lei, Yiyi Cao, Ying Wang, Zhengjie Wang, Hua Pang

Onco Targets Ther. 2020; 13: 487–496. Published online 2020 Jan 15. doi: 10.2147/OTT.S238098

PMCID:: PMC6970276

Article PDF–5.4M

Select item 69514107.

Consequences of Making the Inactive Active Through Changes in Antisense Oligonucleotide Chemistries

Khine Zaw, Kane Greer, May Thandar Aung-Htut, Chalermchai Mitrpant, Rakesh N. Veedu, Sue Fletcher, Steve D. Wilton

Front Genet. 2019; 10: 1249. Published online 2019 Dec 20. doi: 10.3389/fgene.2019.01249

PMCID:: PMC6951410

Article PDF–1.4M

Select item 69003678.

Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines

Katherine Johansen Taber, Jeraldine Lim‐Harashima, Harris Naemi, Jim Goldberg

Mol Genet Genomic Med. 2019 Dec; 7(12): e1024. Published online 2019 Nov 6. doi: 10.1002/mgg3.1024

PMCID:: PMC6900367

Article PDF–545K

Select item 68959159.

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

Miguel Angel Alcántara-Ortigoza, Miriam Erandi Reyna-Fabián, Ariadna González-del Angel, Bernardette Estandia-Ortega, Cesárea Bermúdez-López, Gabriela Marisol Cruz-Miranda, Matilde Ruíz-García

Genes (Basel) 2019 Nov; 10(11): 856. Published online 2019 Oct 29. doi: 10.3390/genes10110856

PMCID:: PMC6895915

Article PDF–783K

Select item 680715010.

MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai

Xing Ji, Jingmin Zhang, Yan Xu, Fei Long, Wei Sun, Xiaoqin Liu, Yingwei Chen, Wenting Jiang

J Clin Lab Anal. 2015 Sep; 29(5): 405–411. Published online 2014 Aug 17. doi: 10.1002/jcla.21787

PMCID:: PMC6807150

Article PDF–249K

Select item 680464011.

Breakpoint junction features of seven DMD deletion mutations

Niall P. Keegan, Steve D. Wilton, Sue Fletcher

Hum Genome Var. 2019; 6: 39. Published online 2019 Aug 22. doi: 10.1038/s41439-019-0070-x

PMCID:: PMC6804640

Article PDF–1.4M

Select item 679630012.

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

Dario Balestra, Iva Maestri, Alessio Branchini, Mattia Ferrarese, Francesco Bernardi, Mirko Pinotti

Front Genet. 2019; 10: 974. Published online 2019 Oct 10. doi: 10.3389/fgene.2019.00974

PMCID:: PMC6796300

Article PDF–2.6M

Select item 678753813.

Genomics and the future of psychopharmacology: MicroRNAs offer novel therapeutics 

David Gurwitz

Dialogues Clin Neurosci. 2019 Jun; 21(2): 131–148. doi: 10.31887/DCNS.2019.21.2/dgurwitz

PMCID:: PMC6787538

Article PDF–344K

Select item 678593414.

Circ-SMARCA5 suppresses progression of multiple myeloma by targeting miR-767-5p

Haiyan Liu, Yan Wu, Shunye Wang, Jie Jiang, Chenlu Zhang, Yijing Jiang, Xingfeng Wang, Lewen Hong, Hongming Huang

BMC Cancer. 2019; 19: 937. Published online 2019 Oct 10. doi: 10.1186/s12885-019-6088-0

PMCID:: PMC6785934

Article PDF–7.6M

Select item 678545615.

Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique

Hao Wang, Hui Zhu, Nan Wang, Tong Cheng, Bing Han, Shuangxia Zhao, Huaidong Song, Kaixiang Cheng, Yang Liu, Jie Qiao

Mol Genet Genomic Med. 2019 Oct; 7(10): e00906. Published online 2019 Aug 20. doi: 10.1002/mgg3.906

PMCID:: PMC6785456

Article PDF–351K

Select item 669452316.

Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy

Xiangdong Kong, Xingjian Zhong, Lina Liu, Siying Cui, Yuxia Yang, Lingrong Kong

BMC Med Genet. 2019; 20: 139. Published online 2019 Aug 14. doi: 10.1186/s12881-019-0873-0

PMCID:: PMC6694523

Article PDF–569K

Select item 667947917.

Patterns of conservation of spliceosomal intron structures and spliceosome divergence in representatives of the diplomonad and parabasalid lineages

Andrew J. Hudson, David C. McWatters, Bradley A. Bowser, Ashley N. Moore, Graham E. Larue, Scott W. Roy, Anthony G. Russell

BMC Evol Biol. 2019; 19: 162. Published online 2019 Aug 2. doi: 10.1186/s12862-019-1488-y

PMCID:: PMC6679479

Article PDF–3.6M

Select item 667690918.

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family

Gloria T. Haskell, Brian C. Jensen, Cecile Skrzynia, Thelsa Pulikkotil, Christian R. Tilley, Yurong Lu, Daniel S. Marchuk, Leigh Ann Samsa, Kirk C. Wilhelmsen, Ethan Lange, Cam Patterson, James P. Evans, Jonathan S. Berg

J Heart Valve Dis. Author manuscript; available in PMC 2019 Aug 2.

Published in final edited form as: J Heart Valve Dis. 2017 Sep; 26(5): 569–580.

PMCID:: PMC6676909

Article PDF–1.8M

Select item 666203919.

Cytotoxic Effects of Juglone and Pterocarya fraxinifolia on Prostate Cancer Cells

Morteza Mahdavi, Mohammad Azadbakht, Akbar Vahdati, Mohammad Shokrzadeh, Ayub Farhadi

J Pharm Bioallied Sci. 2019 Jul-Sep; 11(3): 195–204. doi: 10.4103/jpbs.JPBS_203_18

PMCID:: PMC6662039

Article

Select item 666070020.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2