PMC Links for Books (Select 5236056) - PMC

Select item 87882371.

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

Nine Knoers, Corinne Antignac, Carsten Bergmann, Karin Dahan, Sabrina Giglio, Laurence Heidet, Beata S Lipska-Ziętkiewicz, Marina Noris, Giuseppe Remuzzi, Rosa Vargas-Poussou, Franz Schaefer

Nephrol Dial Transplant. 2022 Feb; 37(2): 239–254. Published online 2021 Jul 15. doi: 10.1093/ndt/gfab218

PMCID:: PMC8788237

Abstract Article PDF–406K

Select item 81287062.

Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group

Olivia Boyer, Franz Schaefer, Dieter Haffner, Detlef Bockenhauer, Tuula Hölttä, Sandra Bérody, Hazel Webb, Marie Heselden, Beata S. Lipska-Zie˛tkiewicz, Fatih Ozaltin, Elena Levtchenko, Marina Vivarelli

Nat Rev Nephrol. 2021; 17(4): 277–289. Published online 2021 Jan 29. doi: 10.1038/s41581-020-00384-1

Correction in:: Nat Rev Nephrol. 2021; 17(6): 434.

PMCID:: PMC8128706

Abstract Article PDF–1.4M

Select item 76083983.

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group

Beata Stefania Lipska-Ziętkiewicz, Fatih Ozaltin, Tuula Hölttä, Detlef Bockenhauer, Sandra Bérody, Elena Levtchenko, Marina Vivarelli, Hazel Webb, Dieter Haffner, Franz Schaefer, Olivia Boyer

Eur J Hum Genet. 2020 Oct; 28(10): 1368–1378. Published online 2020 May 28. doi: 10.1038/s41431-020-0642-8

PMCID:: PMC7608398

Abstract Article PDF–651K

Select item 73417654.

Response to First Course of Intensified Immunosuppression in Genetically Stratified Steroid Resistant Nephrotic Syndrome

Anna E. Mason, Ethan S. Sen, Agnieszka Bierzynska, Elizabeth Colby, Maryam Afzal, Guillaume Dorval, Ania B. Koziell, Maggie Williams, Olivia Boyer, Gavin I. Welsh, Moin A. Saleem, on behalf of the UK RaDaR/NephroS Study

Clin J Am Soc Nephrol. 2020 Jul 1; 15(7): 983–994. Published online 2020 Apr 21. doi: 10.2215/CJN.13371019

PMCID:: PMC7341765

Abstract Article

Select item 73166865.

IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome

Agnes Trautmann, Marina Vivarelli, Susan Samuel, Debbie Gipson, Aditi Sinha, Franz Schaefer, Ng Kar Hui, Olivia Boyer, Moin A Saleem, Luciana Feltran, Janina Müller-Deile, Jan Ulrich Becker, Francisco Cano, Hong Xu, Yam Ngo Lim, William Smoyer, Ifeoma Anochie, Koichi Nakanishi, Elisabeth Hodson, Dieter Haffner, on behalf of the International Pediatric Nephrology Association

Pediatr Nephrol. 2020; 35(8): 1529–1561. Published online 2020 May 7. doi: 10.1007/s00467-020-04519-1

PMCID:: PMC7316686

Abstract Article PDF–2.0M

Select item 69342186.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé, Marie-Josephe Tête, Alexandra Cambier, Julien Hogan, Veronique Baudouin, Saoussen Krid, Albert Bensman, Florie Lammens, Ferielle Louillet, Bruno Ranchin, Cecile Vigneau, Iseline Bouteau, Corinne Isnard-Bagnis, Christoph J. Mache, Tobias Schäfer, Lars Pape, Markus Gödel, Tobias B. Huber, Marcus Benz, Günter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Morinière, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bole-Feysot, Fabienne Jabot-Hanin, Patrick Nitschké, Tarunveer S. Ahluwalia, Anna Köttgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons

J Clin Invest. 2020 Jan 2; 130(1): e129937. Published online 2019 Dec 3. doi: 10.1172/JCI129937

Correction in:: J Clin Invest. 2022 Jun 1; 132(11): e161852.

PMCID:: PMC6934218

Abstract Article PDF–3.6M

Select item 64145407.

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani

Nat Commun. 2019; 10: 1180. Published online 2019 Mar 12. doi: 10.1038/s41467-019-08547-w

PMCID:: PMC6414540

Abstract Article PDF–2.3M

Select item 63112008.

Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?

Rebecca Preston, Helen M. Stuart, Rachel Lennon

Pediatr Nephrol. 2019; 34(2): 195–210. Published online 2017 Nov 27. doi: 10.1007/s00467-017-3838-6

PMCID:: PMC6311200

Abstract Article PDF–1.0M

Select item 47319259.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 454475310.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 10

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity