PMC Links for Books (Select 3048860) - PMC

Select item 87223601.

Autosomal Dominant Tubulointerstitial Kidney Disease: More than Just HNF1β

Anthony J. Bleyer, Matthias Wolf, Kendrah O. Kidd, Martina Zivna, Stanislav Kmoch

Pediatr Nephrol. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Pediatr Nephrol. 2022 May; 37(5): 933–946. Published online 2021 May 22. doi: 10.1007/s00467-021-05118-4

PMCID:: PMC8722360

Article PDF–917K

Select item 74861992.

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer

Kidney Int Rep. 2020 Sep; 5(9): 1472–1485. Published online 2020 Jul 3. doi: 10.1016/j.ekir.2020.06.029

PMCID:: PMC7486199

Article PDF–1.2M

Select item 72480793.

SMRT sequencing revealed to be an effective method for ADTKD-MUC1 diagnosis through follow-up analysis of a Chinese family

Guo-qin Wang, Hong-liang Rui, Hong-rui Dong, Li-jun Sun, Min Yang, Yan-yan Wang, Nan Ye, Zhi-rui Zhao, Xue-jiao Liu, Xiao-yi Xu, Yi-pu Chen, Hong Cheng

Sci Rep. 2020; 10: 8616. Published online 2020 May 25. doi: 10.1038/s41598-020-65491-2

PMCID:: PMC7248079

Article PDF–4.6M

Select item 61156654.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

Martina Živná, Kendrah Kidd, Anna Přistoupilová, Veronika Barešová, Mathew DeFelice, Brendan Blumenstiel, Maegan Harden, Peter Conlon, Peter Lavin, Dervla M. Connaughton, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Alena Vrbacká, Petr Vyleťal, Jan Živný, Miroslav Votruba, Jana Sovová, Helena Hůlková, Victoria Robins, Rebecca Perry, Andrea Wenzel, Bodo B. Beck, Tomáš Seeman, Ondřej Viklický, Sylvie Rajnochová-Bloudíčková, Gregory Papagregoriou, Constantinos C. Deltas, Seth L. Alper, Anna Greka, Anthony J. Bleyer, Stanislav Kmoch

J Am Soc Nephrol. 2018 Sep; 29(9): 2418–2431. Published online 2018 Jul 2. doi: 10.1681/ASN.2018020180

Correction in:: J Am Soc Nephrol. 2020 Apr; 31(4): 892.

PMCID:: PMC6115665

Article

Select item 61156635.

Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition

Karl X. Knaup, Thomas Hackenbeck, Bernt Popp, Johanna Stoeckert, Andrea Wenzel, Maike Büttner-Herold, Frederick Pfister, Markus Schueler, Didem Seven, Annette M. May, Jan Halbritter, Hermann-Josef Gröne, André Reis, Bodo B. Beck, Kerstin Amann, Arif B. Ekici, Michael S. Wiesener

J Am Soc Nephrol. 2018 Sep; 29(9): 2298–2309. Published online 2018 Jul 26. doi: 10.1681/ASN.2018030245

PMCID:: PMC6115663

Article

Select item 58436386.

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

Andrea Wenzel, Janine Altmueller, Arif B. Ekici, Bernt Popp, Kurt Stueber, Holger Thiele, Alois Pannes, Simon Staubach, Eduardo Salido, Peter Nuernberg, Richard Reinhardt, André Reis, Patrick Rump, Franz-Georg Hanisch, Matthias T. F. Wolf, Michael Wiesener, Bruno Huettel, Bodo B. Beck

Sci Rep. 2018; 8: 4170. Published online 2018 Mar 8. doi: 10.1038/s41598-018-22428-0

PMCID:: PMC5843638

Article PDF–3.0M

Select item 53603457.

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

Thomas M. Connor, Simon Hoer, Andrew Mallett, Daniel P. Gale, Aurora Gomez-Duran, Viktor Posse, Robin Antrobus, Pablo Moreno, Marco Sciacovelli, Christian Frezza, Jennifer Duff, Neil S. Sheerin, John A. Sayer, Margaret Ashcroft, Michael S. Wiesener, Gavin Hudson, Claes M. Gustafsson, Patrick F. Chinnery, Patrick H. Maxwell

PLoS Genet. 2017 Mar; 13(3): e1006620. Published online 2017 Mar 7. doi: 10.1371/journal.pgen.1006620

PMCID:: PMC5360345

Article PDF–2.0M

Select item 47319258.

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

Article PDF–1.6M

Select item 45447539.

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

Article PDF–960K

Select item 426438510.

Hereditary Interstitial Kidney Disease

Anthony J. Bleyer, P. Suzanne Hart, Stanislav Kmoch

Semin Nephrol. Author manuscript; available in PMC 2014 Dec 12.

Published in final edited form as: Semin Nephrol. 2010 Jul; 30(4): 366–373. doi: 10.1016/j.semnephrol.2010.06.003

PMCID:: PMC4264385

Article PDF–357K

Select item 390130511.

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

Andrew Kirby, Andreas Gnirke, David B. Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, Daniel Aird, Christine Stevens, James T. Robinson, Moran N. Cabili, Irit Gat-Viks, Edward Kelliher, Riza Daza, Matthew DeFelice, Helena Hulková, Jana Sovová, Petr Vylet’al, Corinne Antignac, Mitchell Guttman, Robert E. Handsaker, Danielle Perrin, Scott Steelman, Snaevar Sigurdsson, Steven J. Scheinman, Carrie Sougnez, Kristian Cibulskis, Melissa Parkin, Todd Green, Elizabeth Rossin, Michael C. Zody, Ramnik J. Xavier, Martin R. Pollak, Seth L. Alper, Kerstin Lindblad-Toh, Stacey Gabriel, P. Suzanne Hart, Aviv Regev, Chad Nusbaum, Stanislav Kmoch, Anthony J. Bleyer, Eric S. Lander, Mark J. Daly

Nat Genet. Author manuscript; available in PMC 2014 Jan 24.

Published in final edited form as: Nat Genet. 2013 Mar; 45(3): 299–303. Published online 2013 Feb 10. doi: 10.1038/ng.2543

PMCID:: PMC3901305

Article PDF–677K

Select item 368671212.

Allopurinol Use during Pregnancy - Outcome of 31 Prospectively Ascertained Cases and a Phenotype Possibly Indicative for Teratogenicity

Maria Hoeltzenbein, Katja Stieler, Mary Panse, Evelin Wacker, Christof Schaefer

PLoS One. 2013; 8(6): e66637. Published online 2013 Jun 19. doi: 10.1371/journal.pone.0066637

PMCID:: PMC3686712

Article PDF–631K

Select item 272526913.

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

Martina Živná, Helena Hůlková, Marie Matignon, Kateřina Hodaňová, Petr Vylet'al, Marie Kalbáčová, Veronika Barešová, Jakub Sikora, Hana Blažková, Jan Živný, Robert Ivánek, Viktor Stránecký, Jana Sovová, Kathleen Claes, Evelyne Lerut, Jean-Pierre Fryns, P. Suzanne Hart, Thomas C. Hart, Jeremy N. Adams, Audrey Pawtowski, Maud Clemessy, Jean-Marie Gasc, Marie-Claire Gübler, Corinne Antignac, Milan Elleder, Katja Kapp, Philippe Grimbert, Anthony J. Bleyer, Stanislav Kmoch

Am J Hum Genet. 2009 Aug 14; 85(2): 204–213. doi: 10.1016/j.ajhg.2009.07.010

PMCID:: PMC2725269

Article PDF–1.2M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 13

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity