Literature DB >> 29769229

The Underestimated Burden of Monogenic Diseases in Adult-Onset ESRD.

Emilie Cornec-Le Gall1,2,3, Peter C Harris4.   

Abstract

Entities:  

Keywords:  Adult ESRD; Molecular Diagnostics; NPHP

Mesh：

Substances：

Year:  2018        PMID： 29769229      PMCID： PMC6054347          DOI： 10.1681/ASN.2018040441

Source DB:  PubMed          Journal:  J Am Soc Nephrol        ISSN： 1046-6673            Impact factor:   10.121


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  6 in total

1.  NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.

Authors:  Rozemarijn Snoek; Jessica van Setten; Brendan J Keating; Ajay K Israni; Pamala A Jacobson; William S Oetting; Arthur J Matas; Roslyn B Mannon; Zhongyang Zhang; Weijia Zhang; Ke Hao; Barbara Murphy; Roman Reindl-Schwaighofer; Andreas Heinzl; Rainer Oberbauer; Ondrej Viklicky; Peter J Conlon; Caragh P Stapleton; Stephan J L Bakker; Harold Snieder; Edith D J Peters; Bert van der Zwaag; Nine V A M Knoers; Martin H de Borst; Albertien M van Eerde
Journal:  J Am Soc Nephrol       Date:  2018-04-13       Impact factor: 10.121

2.  Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.

Authors:  Jens König; Birgitta Kranz; Sabine König; Karl Peter Schlingmann; Andrea Titieni; Burkhard Tönshoff; Sandra Habbig; Lars Pape; Karsten Häffner; Matthias Hansen; Anja Büscher; Martin Bald; Heiko Billing; Raphael Schild; Ulrike Walden; Tobias Hampel; Hagen Staude; Magdalena Riedl; Norbert Gretz; Martin Lablans; Carsten Bergmann; Friedhelm Hildebrandt; Heymut Omran; Martin Konrad
Journal:  Clin J Am Soc Nephrol       Date:  2017-11-16       Impact factor: 8.237

3.  A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

Authors:  Gemma Bullich; Andrea Domingo-Gallego; Iván Vargas; Patricia Ruiz; Laura Lorente-Grandoso; Mónica Furlano; Gloria Fraga; Álvaro Madrid; Gema Ariceta; Mar Borregán; Juan Alberto Piñero-Fernández; Lidia Rodríguez-Peña; Maria Juliana Ballesta-Martínez; Isabel Llano-Rivas; Mireia Aguirre Meñica; José Ballarín; David Torrents; Roser Torra; Elisabet Ars
Journal:  Kidney Int       Date:  2018-05-22       Impact factor: 10.612

4.  Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Authors:  Jan Halbritter; Jonathan D Porath; Katrina A Diaz; Daniela A Braun; Stefan Kohl; Moumita Chaki; Susan J Allen; Neveen A Soliman; Friedhelm Hildebrandt; Edgar A Otto
Journal:  Hum Genet       Date:  2013-04-05       Impact factor: 4.132

Review 5.  Nephronophthisis-associated ciliopathies.

Authors:  Friedhelm Hildebrandt; Weibin Zhou
Journal:  J Am Soc Nephrol       Date:  2007-05-18       Impact factor: 10.121

6.  Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Authors:  Kai-Uwe Eckardt; Seth L Alper; Corinne Antignac; Anthony J Bleyer; Dominique Chauveau; Karin Dahan; Constantinos Deltas; Andrew Hosking; Stanislav Kmoch; Luca Rampoldi; Michael Wiesener; Matthias T Wolf; Olivier Devuyst
Journal:  Kidney Int       Date:  2015-03-04       Impact factor: 10.612
  6 in total
  3 in total

1.  Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

Authors:  Hugo Lemoine; Loann Raud; François Foulquier; John A Sayer; Baptiste Lambert; Eric Olinger; Siriane Lefèvre; Bertrand Knebelmann; Peter C Harris; Pascal Trouvé; Aurore Desprès; Gabrielle Duneau; Marie Matignon; Anais Poyet; Noémie Jourde-Chiche; Dominique Guerrot; Sandrine Lemoine; Guillaume Seret; Miguel Barroso-Gil; Coralie Bingham; Rodney Gilbert; Yannick Le Meur; Marie-Pierre Audrézet; Emilie Cornec-Le Gall
Journal:  Am J Hum Genet       Date:  2022-07-26       Impact factor: 11.043

2.  More dissimilarities than affinities between DNAJB11-PKD and ADPKD.

Authors:  Isabella Pisani; Marco Allinovi; Viviana Palazzo; Paola Zanelli; Micaela Gentile; Maria Teresa Farina; Sara Giuliotti; Paolo Cravedi; Marco Delsante; Umberto Maggiore; Enrico Fiaccadori; Lucio Manenti
Journal:  Clin Kidney J       Date:  2022-01-31

3.  Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Authors:  M Adela Mansilla; Ramakrishna R Sompallae; Carla J Nishimura; Anne E Kwitek; Mycah J Kimble; Margaret E Freese; Colleen A Campbell; Richard J Smith; Christie P Thomas
Journal:  Nephrol Dial Transplant       Date:  2021-01-25       Impact factor: 5.992
  3 in total

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