PMC Links for Books (Select 4831096) - PMC

Select item 77804841.

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Carolin K Scriba, Sarah J Beecroft, Joshua S Clayton, Andrea Cortese, Roisin Sullivan, Wai Yan Yau, Natalia Dominik, Miriam Rodrigues, Elizabeth Walker, Zoe Dyer, Teddy Y Wu, Mark R Davis, David C Chandler, Ben Weisburd, Henry Houlden, Mary M Reilly, Nigel G Laing, Phillipa J Lamont, Richard H Roxburgh, Gianina Ravenscroft

Brain. 2020 Oct; 143(10): 2904–2910. Published online 2020 Oct 25. doi: 10.1093/brain/awaa263

Correction in:: Brain. 2021 May; 144(5): e51.

PMCID:: PMC7780484

Abstract Article PDF–819K

Select item 74972892.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 66125303.

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

Yun Tian, Jun-Ling Wang, Wen Huang, Sheng Zeng, Bin Jiao, Zhen Liu, Zhao Chen, Yujing Li, Ying Wang, Hao-Xuan Min, Xue-Jing Wang, Yong You, Ru-Xu Zhang, Xiao-Yu Chen, Fang Yi, Ya-Fang Zhou, Hong-Yu Long, Chao-Jun Zhou, Xuan Hou, Jun-Pu Wang, Bin Xie, Fan Liang, Zhuan-Yi Yang, Qi-Ying Sun, Emily G. Allen, Andrew Mark Shafik, Ha Eun Kong, Ji-Feng Guo, Xin-Xiang Yan, Zheng-Mao Hu, Kun Xia, Hong Jiang, Hong-Wei Xu, Ran-Hui Duan, Peng Jin, Bei-Sha Tang, Lu Shen

Am J Hum Genet. 2019 Jul 3; 105(1): 166–176. Published online 2019 Jun 6. doi: 10.1016/j.ajhg.2019.05.013

PMCID:: PMC6612530

Abstract Article PDF–1.2M

Select item 41794444.

Comprehensive Assessment of Genetic Variants Within TCF4 in Fuchs' Endothelial Corneal Dystrophy

Eric D. Wieben, Ross A. Aleff, Bruce W. Eckloff, Elizabeth J. Atkinson, Saurabh Baheti, Sumit Middha, William L. Brown, Sanjay V. Patel, Jean-Pierre A. Kocher, Keith H. Baratz

Invest Ophthalmol Vis Sci. 2014 Sep; 55(9): 6101–6107. Published online 2014 Sep 29. doi: 10.1167/iovs.14-14958

PMCID:: PMC4179444

Abstract Article PDF–658K

Select item 38827295.

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

Francine P. Favaro, Lucas Alvizi, Roseli M. Zechi-Ceide, Debora Bertola, Temis M. Felix, Josiane de Souza, Salmo Raskin, Stephen R.F. Twigg, Andrea M.J. Weiner, Pablo Armas, Ezequiel Margarit, Nora B. Calcaterra, Gregers R. Andersen, Simon J. McGowan, Andrew O.M. Wilkie, Antonio Richieri-Costa, Maria L.G. de Almeida, Maria Rita Passos-Bueno

Am J Hum Genet. 2014 Jan 2; 94(1): 120–128. doi: 10.1016/j.ajhg.2013.11.020

PMCID:: PMC3882729

Abstract Article PDF–2.6M

Select item 28965216.

Trinucleotide repeats in human genome and exome

Piotr Kozlowski, Mateusz de Mezer, Wlodzimierz J. Krzyzosiak

Nucleic Acids Res. 2010 Jul; 38(12): 4027–4039. Published online 2010 Mar 9. doi: 10.1093/nar/gkq127

PMCID:: PMC2896521

Abstract Article PDF–13M

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