Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome-Reference-Cited by-同舟云学术

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

Published:2008-12 Issue:11 Volume:74 Page:1468-1479
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Consugar Mark B.,Wong Wai C.,Lundquist Patrick A.,Rossetti Sandro,Kubly Vickie J.,Walker Denise L.,Rangel Laureano J.,Aspinwall Richard,Niaudet W. Patrick,Özen Seza,David Albert,Velinov Milen,Bergstralh Eric J.,Bae Kyongtae T.,Chapman Arlene B.,Guay-Woodford Lisa M.,Grantham Jared J.,Torres Vicente E.,Sampson Julian R.,Dawson Brian D.,Harris Peter C.,for the CRISP Consortium

Publisher

Elsevier BV

Subject

Nephrology

Reference36 articles.

1. Autosomal dominant polycystic kidney disease;Torres;Lancet,2007

2. The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16;European Polycystic Kidney Disease Consortium;Cell,1994

3. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains;Hughes;Nat Genet,1995

4. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein;Mochizuki;Science,1996

5. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease;Rossetti;J Am Soc Nephrol,2007

Cited by 120 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome;American Journal of Medical Genetics Part A;2024-08-02

2. Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease;Clinical Chemistry;2024-03-25

3. Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants;Journal of Clinical Medicine;2024-03-18

4. Ring Chromosome 16;Human Ring Chromosomes;2024

5. Mutation Analysis of <i>PKD1</i> and <i>PKD2</i> Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement;Nephron;2023-05-25