Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome-Reference-Cited by-同舟云学术

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

Published:1994-12 Issue:4 Volume:8 Page:328-332
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Brook-Carter Phillip T.,Peral Belén,Ward Christopher J.,Thompson Peter,Hughes Jim,Maheshwar Magitha M.,Nellist Mark,Gamble Vicki,Harris Peter C.,Sampson Julian R.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1294-328.pdf

Reference28 articles.

1. Gomez, M.R., Tuberous Sclerosis, 2nd edition (Raven Press, New York, 1988).

2. Shepherd, C.W., Gomez, M.R. & Lie, J.T. Causes of death in patients with tuberous sclerosis. Mayo Clin. Proc. 66, 792–796 (1991).

3. Green, A.J., Smith, M. & Yates, J.R.W. Loss of heterozygosity on chromosome 16p in hamartomas from tuberous sclerosis patients. Nature Genet. 6, 193–196 (1994).

4. Green, A.J. & Yates, J.R.W. The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. Hum. molec. Genet. 3, 1833–1837 (1994).

5. Stillwell, T.J., Gomez, M.R. & Kelalis, P.P. Renal lesions in tuberous sclerosis. J. Urol. 138, 477–481 (1987).

Cited by 435 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. Tuberous Sclerosis Complex: Diagnostic Features, Surveillance, and Therapeutic Strategies;Seminars in Pediatric Neurology;2024-09

2. Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome;Cureus;2024-08-26

3. Advances in Molecular Mechanisms of Kidney Disease: Integrating Renal Tumorigenesis of Hereditary Cancer Syndrome;International Journal of Molecular Sciences;2024-08-21

4. The Impact of Autosomal Dominant Polycystic Kidney Disease in Children: A Nephrological, Nutritional, and Psychological Point of View;Biomedicines;2024-08-12

5. 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