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Select item 116818491.

Whole-genome sequencing revealed a novel structural variant in COL4A4 causing autosomal dominant Alport syndrome: A case report

Clément Delage, Marine Andreani, Nihad Boukrout, Naoual Sabaouni, Michaël Perrais, Bruno Lefebvre, Christelle Cauffiez, Nicolas Pottier, Romain Larrue

Heliyon. 2024 Dec 30; 10(24): e40802. Published online 2024 Nov 28. doi: 10.1016/j.heliyon.2024.e40802

PMCID:: PMC11681849

Article PDF–1.5M

Select item 115947092.

Natural History of Auditory Function in Patients with Alport Syndrome: A Case Series Study

Juyun Nam, Hyuntaek Jung, Dongju Won, Heon Yung Gee, Jae Young Choi, Jinsei Jung

J Clin Med. 2024 Nov; 13(22): 6639. Published online 2024 Nov 5. doi: 10.3390/jcm13226639

PMCID:: PMC11594709

Article PDF–990K

Select item 115569343.

Clinical, Pathological, and Genetic Characteristics of Patients with Digenic Alport Syndrome

Yuta Inoki, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Yuta Ichikawa, Yu Tanaka, Chika Ueda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, China Nagano, Kandai Nozu

Kidney360. 2024 Oct; 5(10): 1510–1517. Published online 2024 Aug 13. doi: 10.34067/KID.0000000000000547

PMCID:: PMC11556934

Article PDF–341K

Select item 113618064.

Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants

Mónica Furlano, Melissa Pilco-Teran, Marc Pybus, Víctor Martínez, Miriam Aza-Carmona, Asunción Rius Peris, Vanessa Pérez-Gomez, Gerson Berná, Jaime Mazon, Jonathan Hernández, Leonor Fayos de Arizón, Elizabet Viera, Ignasi Gich, Hugo Vergara Pérez, Elena Gomá-Garcés, José Luis Albero Dolon, Elisabet Ars, Roser Torra

Nephrol Dial Transplant. 2024 Sep; 39(9): 1442–1448. Published online 2024 Feb 5. doi: 10.1093/ndt/gfae031

PMCID:: PMC11361806

Article PDF–1.7M

Select item 113539005.

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children

Vasileia Christodoulaki, Konstantina Kosma, Nikolaos M. Marinakis, Faidon-Nikolaos Tilemis, Nikolaos Stergiou, Afroditi Kampouraki, Charalampos Kapogiannis, Vasiliki Karava, Andromachi Mitsioni, Maria Mila, Christina Kanaka-Gantenbein, Periklis Makrythanasis, Maria Tzetis, Joanne Traeger-Synodinos

Genes (Basel) 2024 Aug; 15(8): 1016. Published online 2024 Aug 2. doi: 10.3390/genes15081016

PMCID:: PMC11353900

Article PDF–228K

Select item 111503036.

X-linked Alport syndrome presenting in mother and son with the same unique histopathological features

Nicolas A. D. Bergeron, Alexandre P. Garneau, Mathieu Rousseau-Gagnon, Julie Riopel, Paul Isenring

J Nephrol. 2024; 37(3): 769–772. Published online 2024 Apr 26. doi: 10.1007/s40620-024-01942-7

PMCID:: PMC11150303

Article PDF–934K

Select item 111215277.

A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease

Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Mario Bengala, Silvia Lai, Alessandra Terracciano, Antonio Novelli, Giuseppe Novelli

Genes (Basel) 2024 May; 15(5): 597. Published online 2024 May 8. doi: 10.3390/genes15050597

PMCID:: PMC11121527

Article PDF–1.9M

Select item 111161638.

33例不同程度肾损伤Alport综合征患儿远期听力监测分析

郭丽宁, 刘薇, 陈敏, 徐佳童, 马宁, 张晓, 段清川, 刘珊珊, 王晓旭, 甄俊淞, 倪鑫, 张杰

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 44–49. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.007

PMCID:: PMC11116163

Article PDF–2.1M

Select item 110889949.

Explaining Alport syndrome—lessons from the adult nephrology clinic

Holly Mabillard, Rebecca Ryan, Nik Tzoumas, Susie Gear, John A. Sayer

J Rare Dis (Berlin) 2024; 3(1): 14. Published online 2024 May 13. doi: 10.1007/s44162-024-00036-z

PMCID:: PMC11088994

Article PDF–3.2M

Select item 1104674310.

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family

Suyun Chen, Guangbiao Xu, Zhixin Zhao, Juping Du, Bo Shen, Chunping Li

BMC Med Genomics. 2024; 17: 108. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01878-8

PMCID:: PMC11046743

Article PDF–1.8M

Select item 1104655411.

Genomics in the kidney clinic

Gabriel T Doctor, Daniel P Gale, Melanie MY Chan

Clin Med (Lond) 2023 May; 23(3): 246–249. Published online 2024 Apr 11. doi: 10.7861/clinmed.2023-RM2

PMCID:: PMC11046554

Article PDF–355K

Select item 1102017612.

Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang, Guoxi Zheng

BMC Med Genomics. 2024; 17: 89. Published online 2024 Apr 16. doi: 10.1186/s12920-024-01858-y

PMCID:: PMC11020176

Article PDF–1.5M

Select item 1101770513.

Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings

Clara Schott, Samantha Colaiacovo, Cadence Baker, Matthew A. Weir, Dervla M. Connaughton

Can J Kidney Health Dis. 2024; 11: 20543581241242562. Published online 2024 Apr 14. doi: 10.1177/20543581241242562

PMCID:: PMC11017705

Article PDF–911K

Select item 1099002914.

Alport syndrome and Alport kidney diseases – elucidating the disease spectrum

Pongpratch Puapatanakul, Jeffrey H. Miner

Curr Opin Nephrol Hypertens. 2024 May; 33(3): 283–290. Published online 2024 Mar 13. doi: 10.1097/MNH.0000000000000983

PMCID:: PMC10990029

Article PDF–1.4M

Select item 1091593015.

Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center

Amir Emami, Fatemeh Nili, Maryam Sotoudeh Anvari, Samaneh Salarvand, Golnar Seirafi

Arch Iran Med. 2024 Jan; 27(1): 8–14. Published online 2024 Jan 1. doi: 10.34172/aim.2024.02

PMCID:: PMC10915930

Article PDF–751K

Select item 1091021316.

Genetic diagnosis of Alport syndrome in 16 Chinese families

Tangli Xiao, Jun Zhang, Li Liu, Bo Zhang

Mol Genet Genomic Med. 2024 Mar; 12(3): e2406. Published online 2024 Mar 3. doi: 10.1002/mgg3.2406

PMCID:: PMC10910213

Article PDF–994K

Select item 1060601917.

Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome

Michal Levy, Lily Bazak, Noa Lev-El, Rotem Greenberg, Nesia Kropach, Lina Basel-Salmon, Idit Maya

Genes (Basel) 2023 Oct; 14(10): 1854. Published online 2023 Sep 23. doi: 10.3390/genes14101854

PMCID:: PMC10606019

Article PDF–435K

Select item 1057732118.

The Phenotypic Spectrum of COL4A3 Heterozygotes

Kaushal V. Solanki, Yirui Hu, Bryn S. Moore, Vida Abedi, Venkatesh Avula, Tooraj Mirshahi, the Regeneron Genetics Center, Natasha T. Strande, Ion D. Bucaloiu, Alexander R. Chang

Kidney Int Rep. 2023 Oct; 8(10): 2088–2099. Published online 2023 Jul 25. doi: 10.1016/j.ekir.2023.07.010

PMCID:: PMC10577321

Article PDF–976K

Select item 1053021419.

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

Constantinos Deltas, Gregory Papagregoriou, Stavroula F. Louka, Apostolos Malatras, Frances Flinter, Daniel P. Gale, Susie Gear, Oliver Gross, Julia Hoefele, Rachel Lennon, Jeffrey H. Miner, Alessandra Renieri, Judy Savige, A. Neil Turner

Genes (Basel) 2023 Sep; 14(9): 1686. Published online 2023 Aug 25. doi: 10.3390/genes14091686