Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Blue sclerae"'
Autor:
Olga N. Ignatovich, Leyla S. Namazova-Baranova, Тea V. Мargieva, Guzal Т. Yakhyaeva, Natalia V. Zhurkova, Кirill V. Savostyanov, Alexander A. Pushkov, Ivan A. Krotov
Publikováno v:
Педиатрическая фармакология, Vol 15, Iss 3, Pp 224-232 (2018)
Osteogenesis imperfect (OI) is a rare genetic disease of connective tissue, the main manifestation are fractures that are developing due to increased bone fragility in both children and adults. Currently, it is known that the genetic basis of the dis
Externí odkaz:
https://doaj.org/article/ad51bd4599e743d7bde725a3f6a8175c
Publikováno v:
Педиатрическая фармакология, Vol 12, Iss 5, Pp 579-588 (2015)
Osteogenesis imperfecta is characterized by increased congenital brittleness of bones with a broad spectrum of clinical manifestations — from perinatal/lethal form and severe bone deformities to the mildest forms. In most cases, the disease is caus
Externí odkaz:
https://doaj.org/article/f6c4d6b1d590498595b8f6e70a0556b1
Autor:
Alessandra Renieri, Theodora Hadjistilianou, Mario Fruschelli, Nicola Lorusso, Mirella Bruttini, Alessandro Di Maggio, Marco Mandalà, Maria Antonietta Mencarelli
Publikováno v:
Ophthalmic genetics. 43(1)
Background Chromosome 4q deletions are rare disorders phenotypically characterized by several features. The most commonly described ocular abnormalities include unilateral microphthalmia with bilateral colobomata, blue sclerae with pigmented retinal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e62c79f89601c45a5f4f0cecbcd273
https://pubmed.ncbi.nlm.nih.gov/34551660
https://pubmed.ncbi.nlm.nih.gov/34551660
Publikováno v:
Journal of Indian Society of Pedodontics and Preventive Dentistry, Vol 24, Iss 5, Pp 44-46 (2006)
Osteogenesis imperfecta is an inherited disorder of the connective tissue. The extreme bone fragility seen in patients suffering from osteogenesis imperfecta pose a series of problems with regard to behavior management and rendering of quality dental
Externí odkaz:
https://doaj.org/article/250ef86ff9274211a62b43b94d0c3a97
Autor:
David D. Waters
Publikováno v:
The Canadian journal of cardiology, vol 36, iss 7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c54862aafe9cd8229c5246b62b911a1
https://doi.org/10.1016/j.cjca.2019.09.016
https://doi.org/10.1016/j.cjca.2019.09.016
Publikováno v:
Journal of Clinical Pediatric Dentistry. 40:322-327
Osteogenesis Imperfecta (OI) is a heterogeneous group of autosomal dominant and recessive inherited disorders of type I collagen metabolism. Clinical features of OI include multiple bone fractures, muscle weakness, joint laxity, skeletal deformities,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de00add77c1892eaa49daa4303033111
https://doi.org/10.17796/1053-4628-40.4.322
https://doi.org/10.17796/1053-4628-40.4.322
Autor:
Meena Balasubramanian, Rebecca C. Pollitt, Amaka C. Offiah, M. Z. Mughal, Michael Parker, Nick Bishop, Paul Arundel, Kate Chandler, Ann Dalton
Publikováno v:
American Journal of Medical Genetics Part A. 167:587-591
In 1987, Cole and Carpenter reported two unrelated infants with multiple fractures and deformities of bone, with a skeletal phenotype similar to severe osteogenesis imperfecta. In addition, these patients also had proptosis, blue sclerae, hydrocephal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd848280611fbef8201a39485606f1a2
https://doi.org/10.1002/ajmg.a.36916
https://doi.org/10.1002/ajmg.a.36916
Autor:
Wasithep Limvorapitak, Diego Villa
Publikováno v:
British journal of haematology. 177(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1ab2ba95374e67258912ede1d020642
https://pubmed.ncbi.nlm.nih.gov/28419450
https://pubmed.ncbi.nlm.nih.gov/28419450
Publikováno v:
New England Journal of Medicine. 371:465-472
A 27-year-old man was seen in the outpatient endocrinology clinic because of severe osteoporosis and multiple bone fractures since childhood. He had had mild cognitive impairment, delayed speech, and pale blue sclerae during childhood. Diagnostic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74d0890309c59a95d75304e21a3a5a83
https://doi.org/10.1056/nejmcpc1404139
https://doi.org/10.1056/nejmcpc1404139
Autor:
Zhi-guo Xie, Kun Xia, Zhengmao Hu, Zhimin Xiong, Wei Su, Xiaojuan Xu, Zhenxin Guo, Ding Zhao, Zhigao Long, Yuhui Zhang, Jinjie Xue, Bing Wang, Hao Peng
Publikováno v:
Gene. 502:168-171
Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94e2ed497cdbff1c3254a798c6f84aeb
https://doi.org/10.1016/j.gene.2012.04.023
https://doi.org/10.1016/j.gene.2012.04.023