Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.
Refeat MM et al.
Scientific Reports, 2025
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F et al.
Annals of Clinical and Translational Neurology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.
Bondarenko M et al.
Balkan Journal of Medical Genetics : Bjmg, 2023
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
Silveira C et al.
Molecular Syndromology, 2023
Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
Biji IK et al.
European Journal of Medical Genetics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.
Härkönen H et al.
Genes, 2021
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden C et al.
Prenatal Diagnosis, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Variants in chondroitin sulfate metabolism genes in thrombotic storm.
Nuytemans K et al.
Thrombosis Research, 2018
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia.
García MM et al.
American Journal of Medical Genetics. Part A, 2014
Diastrophic dysplasia: prenatal diagnosis and review of the literature.
Honório JC et al.
Sao Paulo Medical Journal = Revista Paulista De Medicina, 2013
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
Barbosa M et al.
Clinical Genetics, 2011
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
Dwyer E et al.
American Journal of Medical Genetics. Part A, 2010
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
Cho TJ et al.
Journal of Korean Medical Science, 2010
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
Maeda K et al.
American Journal of Medical Genetics. Part A, 2006
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
Karniski LP
Human Molecular Genetics, 2004
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.
Macías-Gómez NM et al.
American Journal of Medical Genetics. Part A, 2004
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
Karniski LP
Human Molecular Genetics, 2001
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
Rossi A et al.
Human Mutation, 2001
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
Rossi A et al.
European Journal of Biochemistry, 1997
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A et al.
American Journal of Medical Genetics, 1996