Zobrazeno 1 - 10
of 276
pro vyhledávání: '"Spondyloepiphyseal dysplasia congenita"'
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)
Abstract Background Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses, and flattened vertebral bodies. COL2A1 has been confirmed as the pathogen
Externí odkaz:
https://doaj.org/article/a9c3a8b213d24cfa9a23366f89b0e09f
Autor:
Mohammad Shboul, Hela Sassi, Houweyda Jilani, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Lamia Ben Jemaa, Marwa Hilmi, Susanna Gerit Kircher, Ali Al Kaissi
Publikováno v:
AIMS Molecular Science, Vol 8, Iss 1, Pp 76-85 (2021)
Objective: Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant type II collagenopathies characterized by skeletal dysplasia, short stature, and wit
Externí odkaz:
https://doaj.org/article/9c3c872dcc524ba59cff224ed5df0062
Autor:
Meng-Che Tsai, Yen-Yin Chou, Chia-Yi Li, Yi-Chieh Wang, Hui-Wen Yu, Chia-Hsiang Chen, Peng-Chieh Chen
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Collagenopathy is a rare genetic condition characterized by abnormality in either collagen structure or metabolism. Variations in its clinical presentations highlight diversity in the genetic causes and potential existence of concurrent mutations. Th
Externí odkaz:
https://doaj.org/article/107b7db914d543d788c0134134bbb221
Publikováno v:
The Application of Clinical Genetics, Vol Volume 12, Pp 235-238 (2019)
Raffaella Nenna,1 Arianna Turchetti,1 Gerarda Mastrogiorgio,2 Fabio Midulla1 1Department of Paediatrics, Sapienza University, Rome, Italy; 2Department of Biomedicine and Prevention, University of Rome “Tor Vergata”, Rome, ItalyCorrespondence: Raf
Externí odkaz:
https://doaj.org/article/33af92c674b6464ebdd1420cc78f8e27
Akademický článek
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Autor:
Wen‐bin Zheng, Lu‐jiao Li, Di‐chen Zhao, Ou Wang, Yan Jiang, Wei‐bo Xia, Xiao‐ping Xing, Mei Li
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background 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‐asso
Externí odkaz:
https://doaj.org/article/ff8940886cf643a5858599f670ac7e65
Publikováno v:
Case Reports in Ophthalmology, Vol 9, Iss 1, Pp 144-148 (2018)
A 13-year-old Japanese female diagnosed with spondyloepiphyseal dysplasia congenita (SEDC) was referred for ophthalmologic evaluation. Examination with slit-lamp and optical coherence tomography revealed bilateral thin cornea with diffuse corneal opa
Externí odkaz:
https://doaj.org/article/0e352196e90c4952abadc00b2227fe5d
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)
BMC Medical Genomics
BMC Medical Genomics
Background Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses, and flattened vertebral bodies. COL2A1 has been confirmed as the pathogenic gene.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1318480abea302144d6f8a253dc816c
https://doaj.org/article/a9c3a8b213d24cfa9a23366f89b0e09f
https://doaj.org/article/a9c3a8b213d24cfa9a23366f89b0e09f
Autor:
Sophie Rondeau, Lucie Griffon, Geneviève Baujat, Duy Bo Nguyen, Valérie Cormier-Daire, Pauline Marzin, Michel Zerah, Sonia Khirani, Romain Luscan, Vincent Couloigner, Caroline Michot, Brigitte Fauroux, Zagorka Pejin
Publikováno v:
American Journal of Medical Genetics Part A. 185:2108-2118
Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a748ca8d6c0c3dc4a3f34bf286016fde
https://doi.org/10.1002/ajmg.a.62236
https://doi.org/10.1002/ajmg.a.62236
Autor:
Ortopedics n.a. G.A. Ilizarov, Kurgan, Russia, H. Sassi, Mohammad Shboul, Ali Al Kaissi, Marwa Hilmi, Susanna Gerit Kircher, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Lamia Ben Jemaa, Houweyda Jilani
Publikováno v:
AIMS Molecular Science. 8:76-85
Objective Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant type II collagenopathies characterized by skeletal dysplasia, short stature, and with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6eb13408cf860b6243246ac2a375e95
https://doi.org/10.3934/molsci.2021006
https://doi.org/10.3934/molsci.2021006