R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia-Reference-Cited by-同舟云学术

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R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia

Published:2005-10-20 Issue:12 Volume:20 Page:1724-1728
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Bökenkamp Arend,deJong Miranda,van Wijk Joanna A. E.,Block Diana,van Hagen Johanna M.,Ludwig Michael

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-005-2047-x.pdf

Reference21 articles.

1. Schimke RN, Horton WA, King CR (1971) Chondroitin-6-sulfaturia, defective cellular immunity, and nephrotic syndrome. Lancet ii:1088–1089

2. Schimke RN (1982) Personal communication. Kansas City, Ka, 5/22/1982; citation from the OMIM database

3. Spranger J, Hinkel GK, Stoss H, Thoenes W, Wargowski D, Zepp F (1991) Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Pediatr 119:64–72

4. Saraiva JM, Dinis A, Resende C, Faria E, Gomes C, Correia AJ, Gil J, Da Fonseca N (1999) Schimke immuno-osseous dysplasia: case report and review of 25 patients. J Med Genet 36:786–789

5. Boerkoel CF, O’Neill S, André JL, Benke PJ, Bogdanović, Bulla M, Burguet A, Cockfield S, Cordiero I, Ehrich JHH, Fründ S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila L, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Örmälä T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R (2000) Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 159:1–7

Cited by 19 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. Loss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia;Pathology - Research and Practice;2024-02

2. A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing;Journal of International Medical Research;2021-04

3. Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells;International Journal of Molecular Sciences;2020-11-15

4. SMARCAL1, the annealing helicase and the transcriptional co‐regulator;IUBMB Life;2020-08-05

5. Incomplete penetrance in primary immunodeficiency: a skeleton in the closet;Human Genetics;2020-02-17

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