Associated Papers
Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings
Alavanda C et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia.
Bokenkamp A et al.
Pediatric Nephrology (berlin, Germany), 2025
A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing.
Wang L et al.
The Journal of International Medical Research, 2021
Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.
Bertulli C et al.
International Journal of Molecular Sciences, 2020
SMARCAL1, the annealing helicase and the transcriptional co-regulator.
Bansal R et al.
Iubmb Life, 2020
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Lipska-Ziętkiewicz BS et al.
Plos One, 2017
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Sanyal M et al.
Clinical Immunology (orlando, Fla.), 2015
[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].
Wang W et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.
Yue Z et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Deficiency of smarcal1 causes cell cycle arrest and developmental abnormalities in zebrafish.
Huang C et al.
Developmental Biology, 2010
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
Elizondo LI et al.
Journal of Medical Genetics, 2009
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
Clewing JM et al.
Human Mutation, 2007
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.
Bökenkamp A et al.
Pediatric Nephrology (berlin, Germany), 2005
[Schimke's immuno-osseous dysplasia as an explanation for the rare combination of disproportionately short stature and the nephrotic syndrome].
de Jong M et al.
Nederlands Tijdschrift Voor Geneeskunde, 2005