Literature DB >> 12070253

Mutation screening of the PKD1 transcript by RT-PCR.

S Burtey, A M Lossi, J Bayle, Y Berland, M Fontés.   

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Year:  2002        PMID： 12070253      PMCID： PMC1735136          DOI： 10.1136/jmg.39.6.422

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Authors:  Meiling Jin; Yuansheng Xie; Zhiqiang Chen; Yujie Liao; Zuoxiang Li; Panpan Hu; Yan Qi; Zhiwei Yin; Qinggang Li; Ping Fu; Xiangmei Chen
Journal:  Sci Rep       Date:  2016-10-26       Impact factor: 4.379

2.  The nanomechanics of polycystin-1 extracellular region.

Authors:  Feng Qian; Wen Wei; Gregory Germino; Andres Oberhauser
Journal:  J Biol Chem       Date:  2005-10-11       Impact factor: 5.157

3.  Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Authors:  Miguel A Garcia-Gonzalez; Jeffrey G Jones; Susan K Allen; Christopher M Palatucci; Sat D Batish; William K Seltzer; Zheng Lan; Erica Allen; Feng Qian; Xose M Lens; York Pei; Gregory G Germino; Terry J Watnick
Journal:  Mol Genet Metab       Date:  2007-06-18       Impact factor: 4.797

4.  High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Authors:  Stanislas Bataille; Yvon Berland; Michel Fontes; Stéphane Burtey
Journal:  BMC Nephrol       Date:  2011-10-18       Impact factor: 2.388

5.  Biogenesis of mammalian microRNAs by a non-canonical processing pathway.

Authors:  Mallory A Havens; Ashley A Reich; Dominik M Duelli; Michelle L Hastings
Journal:  Nucleic Acids Res       Date:  2012-01-23       Impact factor: 16.971

6.  Alternative splicing events is not a key event for gene expression regulation in uremia.

Authors:  Marion Sallée; Michel Fontès; Laurence Louis; Claire Cérini; Philippe Brunet; Stéphane Burtey
Journal:  PLoS One       Date:  2013-12-16       Impact factor: 3.240

7.  Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.

Authors:  Liang Ma; Meixiang Xu; Julia R Forman; Jane Clarke; Andres F Oberhauser
Journal:  J Biol Chem       Date:  2009-09-15       Impact factor: 5.157

8.  Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

Authors:  Wanna Thongnoppakhun; Chanin Limwongse; Kriengsak Vareesangthip; Chintana Sirinavin; Duangkamon Bunditworapoom; Nanyawan Rungroj; Pa-thai Yenchitsomanus
Journal:  BMC Med Genet       Date:  2004-02-03       Impact factor: 2.103

9.  Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Authors:  Miriam Zacchia; Francesca Del Vecchio Blanco; Francesco Trepiccione; Giancarlo Blasio; Annalaura Torella; Andrea Melluso; Giovanna Capolongo; Rosa Maria Pollastro; Giulio Piluso; Valentina Di Iorio; Francesca Simonelli; Davide Viggiano; Alessandra Perna; Vincenzo Nigro; Giovambattista Capasso
Journal:  J Nephrol       Date:  2021-05-08       Impact factor: 3.902
  9 in total

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