Zobrazeno 1 - 10
of 94
pro vyhledávání: '"COL18A1"'
Autor:
Tulin Aras Ogreden, Gürkan Erdoğan
Publikováno v:
BMC Ophthalmology, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with differ
Externí odkaz:
https://doaj.org/article/1569a012eb324411ac3473a6f36a5462
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Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome
Autor:
Shuk Ching Chong, Yuet-Ping Yuen, Ye Cao, Sze-Shing Fan, Tak Yeung Leung, Emily K. Y. Chan, Xian Lun Zhu
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Knobloch syndrome is a rare collagenopathy characterized by severe early onset myopia, retinal detachment, and occipital encephalocele with various additional manifestations due to biallelic changes in the COL18A1 gene. Here we reported a Chinese fam
Externí odkaz:
https://doaj.org/article/90af077d044c43399ffad6fed546a294
Publikováno v:
Българска неврология, Vol 22, Iss 1 (2021)
Синдромът на Knobloch е рядко и клинично хетерогенно автозомно-рецесивно заболяване, дължащо се на мутации в COL18A1. Генът е разположен в дълго
Externí odkaz:
https://doaj.org/article/7360ab15442e4431af4f0e1b6c884df1
Autor:
Xiaolei Lian, J. Steffan Bond, Narendra Bharathy, Sergei P. Boudko, Elena Pokidysheva, Jack F. Shern, Melvin Lathara, Takako Sasaki, Teagan Settelmeyer, Megan M. Cleary, Ayeza Bajwa, Ganapati Srinivasa, Christopher P. Hartley, Hans Peter Bächinger, Atiya Mansoor, Sakir H. Gultekin, Noah E. Berlow, Charles Keller
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma of childhood with a propensity to metastasize. Current treatment for patients with RMS includes conventional systemic chemotherapy, radiation therapy, and surgical resection; nevertheless,
Externí odkaz:
https://doaj.org/article/521d60c3b7d3445ea5dac9b82bf56121
Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree
Publikováno v:
International Journal of Ophthalmology, Vol 11, Iss 6, Pp 918-922 (2018)
AIM: To explore the clinical feature and genetic etiology of a Chinese Knobloch syndrome family. METHODS: Ocular examinations and magnetic resonance imagings (MRIs) were performed on the family. Whole exome sequencing was conducted on the two patien
Externí odkaz:
https://doaj.org/article/50ff3ad47b5f46e2a6992b821fa990e7
Publikováno v:
BMC Ophthalmology, Vol 17, Iss 1, Pp 1-6 (2017)
Abstract Background Knobloch Syndrome (KS) is a rare congenital syndrome characterized by occipital skull defects and vitreoretinal degeneration. Retinal detachment (RD) often occurs at the end of the first decade of life or later. Aside from occipit
Externí odkaz:
https://doaj.org/article/d9904c912150443398a3f3a2436ceab4
Autor:
I, Irene Díez García-Prieto, Sara, Lopez-Martín, Jacobo, Albert, Mar, Jiménez de la Peña, Daniel Martín, Fernández-Mayoralas, Beatriz, Calleja-Pérez, María Teresa, Gómez Fernández, Sara, Álvarez, Taina, Pihlajaniemi, Valerio, Izzi, Alberto, Fernández-Jaén
COL18A1 gene mutations have been associated with Knobloch syndrome, which is characterized by ocular and brain abnormalities. Here we report a 4.5 years-old male child with autism and two novel COL18A1 mutations (NM_030582.4: c.1883_1891dup and c.178
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1c0b412f64bd88586b4d7b55ef7bc9
http://urn.fi/urn:nbn:fi-fe2022042730802
http://urn.fi/urn:nbn:fi-fe2022042730802
Akademický článek
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