Associated Papers
Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type-III.
Wengryn P et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.
Wang L et al.
Journal of Human Genetics, 2024
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.
Szoszkiewicz A et al.
Orphanet Journal of Rare Diseases, 2024
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Lecca M et al.
Clinical Genetics, 2023
Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis.
Wengryn P et al.
Human Mutation, 2023
Clinical genetics of spondylocostal dysostosis: A mini review.
Umair M et al.
Frontiers in Genetics, 2022
Effects of Notch glycosylation on health and diseases.
Urata Y et al.
Development, Growth & Differentiation, 2020
Identification of novel LFNG mutations in spondylocostal dysostosis.
Otomo N et al.
Journal of Human Genetics, 2019
Screening of known disease genes in congenital scoliosis.
Takeda K et al.
Molecular Genetics & Genomic Medicine, 2018
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.
Giampietro PF et al.
Annals of the New York Academy of Sciences, 2009
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.
Sparrow DB et al.
American Journal of Human Genetics, 2006
Roles of O-fucose glycans in notch signaling revealed by mutant mice.
Lu L et al.
Methods in Enzymology, 2006
Scoliosis and segmentation defects of the vertebrae.
Eckalbar WL et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 0
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