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Items: 1 to 20 of 30

1.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, W. Patrick Devine, Jessica van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh
Am J Med Genet A. Author manuscript; available in PMC 2023 Aug 1.
Published in final edited form as: Am J Med Genet A. 2022 Aug; 188(8): 2360–2366. Published online 2022 Jun 25. doi: 10.1002/ajmg.a.62872
PMCID:
PMC9756141
ArticlePDF–636K
2.
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis
Jens Christian König, Rebeka Karsay, Joachim Gerß, Karl-Peter Schlingmann, Mareike Dahmer-Heath, Anna-Katharina Telgmann, Sabine Kollmann, Gema Ariceta, Valentine Gillion, Detlef Bockenhauer, Aurélia Bertholet-Thomas, Antonio Mastrangelo, Olivia Boyer, Marc Lilien, Stéphane Decramer, Joost. P. Schanstra, Martin Pohl, Raphael Schild, Stefanie Weber, Julia Hoefele, Jens Drube, Metin Cetiner, Matthias Hansen, Julia Thumfart, Burkhard Tönshoff, Sandra Habbig, Max Christoph Liebau, Martin Bald, Carsten Bergmann, Petra Pennekamp, Martin Konrad, NEOCYST consortium
Kidney Int Rep. 2022 Sep; 7(9): 2016–2028. Published online 2022 Jun 16. doi: 10.1016/j.ekir.2022.05.035
PMCID:
PMC9459005
ArticlePDF–1.5M
3.
The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies
Julie C. Van De Weghe, Arianna Gomez, Dan Doherty
Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2022 Sep 2.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2022 Aug 31; 23: 301–329. Published online 2022 Jun 2. doi: 10.1146/annurev-genom-121321-093528
PMCID:
PMC9437135
ArticlePDF–2.1M
4.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Valentina Serpieri, Fulvio D’Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente, University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet. 2022 Sep; 59(9): 888–894. Published online 2021 Oct 21. doi: 10.1136/jmedgenet-2021-108114
PMCID:
PMC9411896
ArticlePDF–1.1M
5.
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis
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, Genomics England Research Consortium, The Genkyst Study Group, Yannick Le Meur, Marie-Pierre Audrézet, Emilie Cornec-Le Gall
Am J Hum Genet. 2022 Aug 4; 109(8): 1484–1499. Published online 2022 Jul 26. doi: 10.1016/j.ajhg.2022.06.013
PMCID:
PMC9388391
ArticlePDF–3.1M
6.
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
Agnieszka Stembalska, Małgorzata Rydzanicz, Magdalena Klaniewska, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Rafal Ploski, Robert Smigiel
Genes (Basel) 2022 Aug; 13(8): 1339. Published online 2022 Jul 27. doi: 10.3390/genes13081339
PMCID:
PMC9332837
ArticlePDF–1.3M
7.
Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China
Liang Ying, Wang Hui, FuQian, Zhou Nan, Jiang Yeping, Mi Lan
BMC Pediatr. 2022; 22: 433. Published online 2022 Jul 20. doi: 10.1186/s12887-022-03496-8
PMCID:
PMC9297557
ArticlePDF–989K
8.
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
Sarah R. Senum, Ying (Sabrina) M. Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana V. Gregory, Ruxandra Neatu, Timothy L. Kline, Marie-Pierre Audrézet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry J. Watnick, Dorien J.M. Peters, Albert C.M. Ong, Peter J. Conlon, Ronald D. Perrone, Emilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Sayer, Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies, Peter C. Harris
Am J Hum Genet. 2022 Jan 6; 109(1): 136–156. Published online 2021 Dec 9. doi: 10.1016/j.ajhg.2021.11.016
PMCID:
PMC8764120
ArticlePDF–2.5M
9.
Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease
Shabarni Gupta, Justyna E. Ozimek-Kulik, Jacqueline Kathleen Phillips
Genes (Basel) 2021 Nov; 12(11): 1762. Published online 2021 Nov 5. doi: 10.3390/genes12111762
PMCID:
PMC8623546
ArticlePDF–5.4M
10.
Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis
Marijn F. Stokman, Sophie Saunier, Alexandre Benmerah
Front Cell Dev Biol. 2021; 9: 653138. Published online 2021 May 13. doi: 10.3389/fcell.2021.653138
PMCID:
PMC8155538
ArticlePDF–987K
11.
Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient
Rasoul Alizadeh, Sanaz Jamshidi, Mohammad Keramatipour, Parisa Moeinian, Rozita Hosseini, Hasan Otukesh, Saeed Talebi
Iran Biomed J. 2020 Nov; 24(6): 405–408. Published online 2020 May 31. doi: 10.29252/ibj.24.6.400
PMCID:
PMC7601541
ArticlePDF–755K
12.
ALG9 Mutation Carriers Develop Kidney and Liver Cysts
Whitney Besse, Alex R. Chang, Jonathan Z. Luo, William J. Triffo, Bryn S. Moore, Ashima Gulati, Dustin N. Hartzel, Shrikant Mane, Regeneron Genetics Center, Vicente E. Torres, Stefan Somlo, Tooraj Mirshahi
J Am Soc Nephrol. 2019 Nov; 30(11): 2091–2102. Published online 2019 Aug 8. doi: 10.1681/ASN.2019030298
PMCID:
PMC6830805
Article
13.
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
Marijn F. Stokman, Bert van der Zwaag, Nicole C. A. J. van de Kar, Mieke M. van Haelst, Albertien M. van Eerde, Joost W. van der Heijden, Hester Y. Kroes, Elly Ippel, Annelien J. A. Schulp, Koen L. van Gassen, Iris A. L. M. van Rooij, Rachel H. Giles, Philip L. Beales, Ronald Roepman, Heleen H. Arts, Ernie M. H. F. Bongers, Kirsten Y. Renkema, Nine V. A. M. Knoers, Jeroen van Reeuwijk, Marc R. Lilien
Pediatr Nephrol. 2018; 33(10): 1701–1712. Published online 2018 Jul 5. doi: 10.1007/s00467-018-3958-7
PMCID:
PMC6132874
ArticlePDF–985K
14.
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD
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
J Am Soc Nephrol. 2018 Jun; 29(6): 1772–1779. Published online 2018 Apr 13. doi: 10.1681/ASN.2017111200
PMCID:
PMC6054334
Article
15.
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease
Emilie Cornec-Le Gall, Rory J. Olson, Whitney Besse, Christina M. Heyer, Vladimir G. Gainullin, Jessica M. Smith, Marie-Pierre Audrézet, Katharina Hopp, Binu Porath, Beili Shi, Saurabh Baheti, Sarah R. Senum, Jennifer Arroyo, Charles D. Madsen, Claude Férec, Dominique Joly, François Jouret, Oussamah Fikri-Benbrahim, Christophe Charasse, Jean-Marie Coulibaly, Alan S. Yu, Korosh Khalili, York Pei, Stefan Somlo, Yannick Le Meur, Vicente E. Torres, Genkyst Study Group, the HALT Progression of Polycystic Kidney Disease Group, the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Peter C. Harris
Am J Hum Genet. 2018 May 3; 102(5): 832–844. Published online 2018 Apr 26. doi: 10.1016/j.ajhg.2018.03.013
PMCID:
PMC5986722
ArticlePDF–2.7M
16.
Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses
Carsten Bergmann
Front Pediatr. 2017; 5: 221. Published online 2018 Feb 9. doi: 10.3389/fped.2017.00221
PMCID:
PMC5811498
ArticlePDF–1.4M
17.
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies
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
Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1974–1983. Published online 2017 Nov 16. doi: 10.2215/CJN.01280217
PMCID:
PMC5718263
Article
18.
Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances
Verity Hartill, Katarzyna Szymanska, Saghira Malik Sharif, Gabrielle Wheway, Colin A. Johnson
Front Pediatr. 2017; 5: 244. Published online 2017 Nov 20. doi: 10.3389/fped.2017.00244
PMCID:
PMC5701918
ArticlePDF–868K
19.
Ciliopathies
Daniela A. Braun, Friedhelm Hildebrandt
Cold Spring Harb Perspect Biol. 2017 Mar; 9(3): a028191. doi: 10.1101/cshperspect.a028191
PMCID:
PMC5334254
ArticlePDF–1.0M
20.
Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome
Elizabeth Forsythe, Kathryn Sparks, Sunayna Best, Sarah Borrows, Bethan Hoskins, Ataf Sabir, Timothy Barrett, Denise Williams, Shehla Mohammed, David Goldsmith, David V. Milford, Detlef Bockenhauer, Lukas Foggensteiner, Philip L. Beales
J Am Soc Nephrol. 2017 Mar; 28(3): 963–970. Published online 2016 Sep 22. doi: 10.1681/ASN.2015091029
PMCID:
PMC5328148
Article

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