PMC Links for Nucleotide (Select 25777719) - PMC

Result Filters

Links from Nucleotide

Items: 12

Select item 65322171.

Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency

Ping Wang, Fengying Cai, Lirong Cao, Yizheng Wang, Qianqian Zou, Peng Zhao, Chao Wang, Yuqin Zhang, Chunquan Cai, Jianbo Shu

BMC Med Genet. 2019; 20: 88. Published online 2019 May 22. doi: 10.1186/s12881-019-0821-z

PMCID:: PMC6532217

Abstract Article PDF–826K

Select item 54507342.

Decreased expression of ALDH5A1 predicts prognosis in patients with ovarian cancer

Xun Tian, Yingyan Han, Lan Yu, Bo Luo, Zheng Hu, Xiong Li, Zongyuan Yang, Xin Wang, Wanqiu Huang, Hui Wang, Qinghua Zhang, Ding Ma

Cancer Biol Ther. 2017; 18(4): 245–251. Published online 2017 Mar 27. doi: 10.1080/15384047.2017.1295175

PMCID:: PMC5450734

Abstract Article PDF–946K

Select item 13773053.

Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

K L Chambliss, D D Hinson, F Trettel, P Malaspina, A Novelletto, C Jakobs, K M Gibson

Am J Hum Genet. 1998 Aug; 63(2): 399–408. doi: 10.1086/301964

PMCID:: PMC1377305

Summary PDF–2.8M

Select item 65030084.

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female

Madalyn Brown, Paula Ashcraft, Erland Arning, Teodoro Bottiglieri, William McClintock, Frank Giancola, David Lieberman, Natalie S. Hauser, Rebecca Miller, Jean‐Baptiste Roullet, Phillip Pearl, K. Michael Gibson

Mol Genet Genomic Med. 2019 May; 7(5): e629. Published online 2019 Mar 4. doi: 10.1002/mgg3.629

PMCID:: PMC6503008

Abstract Article PDF–300K

Select item 61220565.

Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing

William A. Zeiger, Nasheed I. Jamal, Maren T. Scheuner, Patricia Pittman, Kimiyo M. Raymond, Massimo Morra, Shri K. Mishra

JIMD Rep. 2018; 41: 47–51. Published online 2018 Feb 17. doi: 10.1007/8904_2018_90

PMCID:: PMC6122056

Abstract Article PDF–175K

Select item 53819656.

Association of Reading Disabilities With Regions Marked by Acetylated H3 Histones in KIAA0319

Jillian M. Couto, Izzy Livne-Bar, Katherine Huang, Zhaodong Xu, Tasha Cate-Carter, Yu Feng, Karen Wigg, Tom Humphries, Rosemary Tannock, Elizabeth N. Kerr, Maureen W. Lovett, Rod Bremner, Cathy L. Barr

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2017 Apr 5.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5; 153B(2): 447–462. doi: 10.1002/ajmg.b.30999

PMCID:: PMC5381965

Abstract Article PDF–1.2M

Select item 39291147.

Targeting Aldehyde Dehydrogenase 2: New Therapeutic Opportunities

Che-Hong Chen, Julio Cesar Batista Ferreira, Eric R. Gross, Daria Mochly-Rosen

Physiol Rev. 2014 Jan; 94(1): 1–34. doi: 10.1152/physrev.00017.2013

PMCID:: PMC3929114

Abstract Article

Select item 34417338.

“Seed-Milarity” Confers to hsa-miR-210 and hsa-miR-147b Similar Functional Activity

Thomas Bertero, Sébastien Grosso, Karine Robbe-Sermesant, Kevin Lebrigand, Imene-Sarah Hénaoui, Marie-Pierre Puisségur, Sandra Fourre, Laure-Emmanuelle Zaragosi, Nathalie M. Mazure, Gilles Ponzio, Bruno Cardinaud, Pascal Barbry, Roger Rezzonico, Bernard Mari

PLoS One. 2012; 7(9): e44919. Published online 2012 Sep 13. doi: 10.1371/journal.pone.0044919