Literature DB >> 28890537

Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome.

Ellen F Carney.   

Abstract

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Year:  2017        PMID: 28890537     DOI: 10.1038/nrneph.2017.130

Source DB:  PubMed          Journal:  Nat Rev Nephrol        ISSN: 1759-5061            Impact factor:   28.314


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  1 in total

1.  Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:  Daniela A Braun; Jia Rao; Geraldine Mollet; David Schapiro; Marie-Claire Daugeron; Weizhen Tan; Olivier Gribouval; Olivia Boyer; Patrick Revy; Tilman Jobst-Schwan; Johanna Magdalena Schmidt; Jennifer A Lawson; Denny Schanze; Shazia Ashraf; Jeremy F P Ullmann; Charlotte A Hoogstraten; Nathalie Boddaert; Bruno Collinet; Gaëlle Martin; Dominique Liger; Svjetlana Lovric; Monica Furlano; I Chiara Guerrera; Oraly Sanchez-Ferras; Jennifer F Hu; Anne-Claire Boschat; Sylvia Sanquer; Björn Menten; Sarah Vergult; Nina De Rocker; Merlin Airik; Tobias Hermle; Shirlee Shril; Eugen Widmeier; Heon Yung Gee; Won-Il Choi; Carolin E Sadowski; Werner L Pabst; Jillian K Warejko; Ankana Daga; Tamara Basta; Verena Matejas; Karin Scharmann; Sandra D Kienast; Babak Behnam; Brendan Beeson; Amber Begtrup; Malcolm Bruce; Gaik-Siew Ch'ng; Shuan-Pei Lin; Jui-Hsing Chang; Chao-Huei Chen; Megan T Cho; Patrick M Gaffney; Patrick E Gipson; Chyong-Hsin Hsu; Jameela A Kari; Yu-Yuan Ke; Cathy Kiraly-Borri; Wai-Ming Lai; Emmanuelle Lemyre; Rebecca Okashah Littlejohn; Amira Masri; Mastaneh Moghtaderi; Kazuyuki Nakamura; Fatih Ozaltin; Marleen Praet; Chitra Prasad; Agnieszka Prytula; Elizabeth R Roeder; Patrick Rump; Rhonda E Schnur; Takashi Shiihara; Manish D Sinha; Neveen A Soliman; Kenza Soulami; David A Sweetser; Wen-Hui Tsai; Jeng-Daw Tsai; Rezan Topaloglu; Udo Vester; David H Viskochil; Nithiwat Vatanavicharn; Jessica L Waxler; Klaas J Wierenga; Matthias T F Wolf; Sik-Nin Wong; Sebastian A Leidel; Gessica Truglio; Peter C Dedon; Annapurna Poduri; Shrikant Mane; Richard P Lifton; Maxime Bouchard; Peter Kannu; David Chitayat; Daniella Magen; Bert Callewaert; Herman van Tilbeurgh; Martin Zenker; Corinne Antignac; Friedhelm Hildebrandt
Journal:  Nat Genet       Date:  2017-08-14       Impact factor: 38.330

  1 in total
  2 in total

1.  Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.

Authors:  Peter Zhan Tao Wang; Chitra Prasad; Carmen Inés Rodriguez Cuellar; Guido Filler
Journal:  Pediatr Nephrol       Date:  2018-08-23       Impact factor: 3.714

2.  L Antigen Family Member 3 Serves as a Prognostic Biomarker for the Clinical Outcome and Immune Infiltration in Skin Cutaneous Melanoma.

Authors:  Jingjing Song; Cong Jin; Endong Chen; Xubin Dong; Libin Zhu
Journal:  Biomed Res Int       Date:  2021-03-18       Impact factor: 3.411

  2 in total

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