Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: PDSS2[original query] |
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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. Journal of the American Society of Nephrology : JASN 2010 Jul 21 (7): 1209-17. Machuca Eduardo, Benoit Geneviève, Nevo Fabien, Tête Marie-Josèphe, Gribouval Olivier, Pawtowski Audrey, Brandström Per, Loirat Chantal, Niaudet Patrick, Gubler Marie-Claire, Antignac Corin |
Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10. American journal of physiology. Renal physiology 2013 Oct 305 (8): F1228-38. Gasser David L, Winkler Cheryl A, Peng Min, An Ping, McKenzie Louise M, Kirk Gregory D, Shi Yuchen, Xie Letian X, Marbois Beth N, Clarke Catherine F, Kopp Jeffrey |
Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease.
American journal of respiratory cell and molecular biology 2015 Aug 53 (2): 226-34. Hansel Nadia N, Paré Peter D, Rafaels Nicholas, Sin Don D, Sandford Andrew, Daley Denise, Vergara Candelaria, Huang Lili, Elliott W Mark, Pascoe Chris D, Arsenault Bryna A, Postma Dirkje S, Boezen H Marike, Bossé Yohan, van den Berge Maarten, Hiemstra Pieter S, Cho Michael H, Litonjua Augusto A, Sparrow David, Ober Carole, Wise Robert A, Connett John, Neptune Enid R, Beaty Terri H, Ruczinski Ingo, Mathias Rasika A, Barnes Kathleen C, |
Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption.
Scientific reports 2016 Aug 6 31590. Pirastu Nicola, Kooyman Maarten, Robino Antonietta, van der Spek Ashley, Navarini Luciano, Amin Najaf, Karssen Lennart C, Van Duijn Cornelia M, Gasparini Pao |
A Systematic Analysis of Major Susceptible Genes in Childhood-onset Steroid-resistant Nephrotic Syndrome. Annals of clinical and laboratory science 2019 7 49 (3): 330-337. Li Yongzhen, He Qingnan, Wang Ying, Dang Xiqiang, Wu Xiaochuan, Li Xiaoyan, Shuai Lanjun, Yi Zhuw |
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness. Annals of clinical and translational neurology 2020 12 8 (1): 247-251. Nardecchia Francesca, De Giorgi Agnese, Palombo Flavia, Fiorini Claudio, De Negri Anna M, Carelli Valerio, Caporali Leonardo, Leuzzi Vincen |
Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases. International journal of legal medicine 2021 Apr . Neubauer Jacqueline, Wang Shouyu, Russo Giancarlo, Haas Cordu |
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- Page last updated:Apr 22, 2024
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