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About 368 results

ALLMedicine Spondyloepiphyseal Dysplasia Center

Research & Reviews  181 results

A CRISPR-engineered swine model of COL2A1 deficiency recapitulates altered early skelet...
https://doi.org/10.1016/j.bone.2020.115450
Bone Zhang B, Wang C et. al.

May 25th, 2020 - Loss-of-function mutations in the COL2A1 gene were previously described as a cause of type II collagenopathy (e.g., spondyloepiphyseal dysplasia, Stickler syndrome type I), a major subgroup of genetic skeletal diseases. However, the pathogenic mec...

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homoz...
https://doi.org/10.1002/ajmg.a.61614
American Journal of Medical Genetics. Part A REFERENCES; Carvalho DR, Speck-Martins CE et. al.

May 17th, 2020 - Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we ...

Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216528
BMC Nephrology; Xiong S, Shuai L et. al.

May 12th, 2020 - Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive renal insufficiency and defective cellular immunity. Podocytic infolding glomerulopathy (PIG) is a newly prop...

Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.
https://doi.org/10.1016/j.braindev.2020.01.008
Brain & Development; Prato G, De Grandis E et. al.

Mar 2nd, 2020 - Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. The clinical picture is characterized by spondyloepiphyseal dysplasia resulting in growth failure, nephropat...

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057085
Molecular Genetics & Genomic Medicine; Zheng WB, Li LJ et. al.

Jan 23rd, 2020 - Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare inherited chondrodysplasia characterized by abnormal epiphyses, short stature, and flattened vertebral bodies. We investigate the phenotypes and the disease-associated variants of ...

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Clinicaltrials.gov  185 results

A CRISPR-engineered swine model of COL2A1 deficiency recapitulates altered early skelet...
https://doi.org/10.1016/j.bone.2020.115450
Bone Zhang B, Wang C et. al.

May 25th, 2020 - Loss-of-function mutations in the COL2A1 gene were previously described as a cause of type II collagenopathy (e.g., spondyloepiphyseal dysplasia, Stickler syndrome type I), a major subgroup of genetic skeletal diseases. However, the pathogenic mec...

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homoz...
https://doi.org/10.1002/ajmg.a.61614
American Journal of Medical Genetics. Part A REFERENCES; Carvalho DR, Speck-Martins CE et. al.

May 17th, 2020 - Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we ...

Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216528
BMC Nephrology; Xiong S, Shuai L et. al.

May 12th, 2020 - Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive renal insufficiency and defective cellular immunity. Podocytic infolding glomerulopathy (PIG) is a newly prop...

Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.
https://doi.org/10.1016/j.braindev.2020.01.008
Brain & Development; Prato G, De Grandis E et. al.

Mar 2nd, 2020 - Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. The clinical picture is characterized by spondyloepiphyseal dysplasia resulting in growth failure, nephropat...

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057085
Molecular Genetics & Genomic Medicine; Zheng WB, Li LJ et. al.

Jan 23rd, 2020 - Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare inherited chondrodysplasia characterized by abnormal epiphyses, short stature, and flattened vertebral bodies. We investigate the phenotypes and the disease-associated variants of ...

see more →

Patient Education  2 results see all →