Relevant bibliographies by topics / Knobloch syndrome

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  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters

Academic literature on the topic 'Knobloch syndrome'

Author: Grafiati
Published: 4 June 2021
Last updated: 7 February 2022

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Journal articles on the topic "Knobloch syndrome"

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Li, Songshan, You Wang, Limei Sun, et al. "Knobloch Yndrome Associated with Novel COL18A1 Variants in Chinese Population." Genes 12, no. 10 (2021): 1512. http://dx.doi.org/10.3390/genes12101512.

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Knobloch syndrome is an inherited disorder characterized by high myopia, retinal detachment, and occipital defects. Disease-causing mutations have been identified in the COL18A1 gene. This study aimed to investigate novel variants of COL18A1 in Knobloch syndrome and describe the associated phenotypes in Chinese patients. We reported six patients with Knobloch syndrome from four unrelated families in whom we identified five novel COL18A1 mutations. Clinical examination showed that all probands presented with high myopia, chorioretinal atrophy, and macular defects; one exhibited rhegmatogenous r
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Joyce, Sarah, Louise Tee, Aiysha Abid, Shagufta Khaliq, S. Qasim Mehdi, and Eamonn R. Maher. "Locus heterogeneity and Knobloch syndrome." American Journal of Medical Genetics Part A 152A, no. 11 (2010): 2880–81. http://dx.doi.org/10.1002/ajmg.a.33619.

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Thau, Avrey, Mai Tsukikawa, Nutsuchar Wangtiraumnuay, et al. "Optical Coherence Tomography in Knobloch Syndrome." Ophthalmic Surgery, Lasers and Imaging Retina 50, no. 8 (2019): e203-e210. http://dx.doi.org/10.3928/23258160-20190806-13.

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O’CONNELL, ANNE C., MARY TONER, and SINEAD MURPHY. "Knobloch syndrome: novel intra-oral findings." International Journal of Paediatric Dentistry 19, no. 3 (2009): 213–15. http://dx.doi.org/10.1111/j.1365-263x.2008.00923.x.

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Czeizel, A. E., P. Göblyös, G. Kustos, E. Mester, and E. Paraicz. "The second report of Knobloch syndrome." American Journal of Medical Genetics 42, no. 6 (1992): 777–79. http://dx.doi.org/10.1002/ajmg.1320420605.

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Williams, Theresa Anne, Graham R. Kirkby, Denise Williams, and John R. Ainsworth. "A Phenotypic Variant of Knobloch Syndrome." Ophthalmic Genetics 29, no. 2 (2008): 85–86. http://dx.doi.org/10.1080/13816810701850041.

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Thau, Avrey, Mai Tsukikawa, Nutsuchar Wangtiraumnuay, et al. "Optical coherence tomography in Knobloch syndrome." Journal of American Association for Pediatric Ophthalmology and Strabismus 22, no. 4 (2018): e67-e68. http://dx.doi.org/10.1016/j.jaapos.2018.07.248.

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Wawrzynski, James, Jonathan Than, Matthew Gillam, and Paul J. Foster. "Acute Angle Closure in Knobloch Syndrome." Journal of Glaucoma 30, no. 5 (2021): e265-e268. http://dx.doi.org/10.1097/ijg.0000000000001781.

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Nakousi‐Capurro, Nicole, Jonathan Huserman, Silvia Castillo, et al. "Knobloch syndrome in a patient from Chile." American Journal of Medical Genetics Part A 182, no. 10 (2020): 2239–42. http://dx.doi.org/10.1002/ajmg.a.61760.

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Balikova, Irina, Nuri Serdal Sanak, Depasse Fanny, et al. "Three cases of molecularly confirmed Knobloch syndrome." Ophthalmic Genetics 41, no. 1 (2020): 83–87. http://dx.doi.org/10.1080/13816810.2020.1737948.

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Dissertations / Theses on the topic "Knobloch syndrome"

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Suzuki, Oscar Takeo. "\"Estudo funcional do colágeno tipo XVIII\"." Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-21092007-142926/.

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A síndrome de Knobloch (SK) é uma doença autossômica recessiva rara, caracterizada por problemas oculares e presença de encefalocele occipital, porém o quadro clínico é variável. Os pacientes apresentam principalmente miopia de grau elevado, degeneração vítreo-retiniana e descolamento de retina; o grau de comprometimento da alteração no occipital também é variável. Nossos estudos mostraram que a SK é causada por mutações no gene COL18A1, que codifica o colágeno tipo XVIII. Esse colágeno, uma proteoglicana da matriz extracelular, tem sido estudado principalmente por liberar a endostatina, um fr
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Eklund, L. (Lauri). "Genetic studies of collagen types XV and XVIII:type XV collagen deficiency in mice results in skeletal myopathy and cardiovascular defects, while the homologous endostatin precursor type XVIII collagen is needed for normal development of the eye." Doctoral thesis, University of Oulu, 2001. http://urn.fi/urn:isbn:9514265793.

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Abstract Overlapping genomic clones coding for the α1 chain of mouse type XV collagen (Col15a1) were isolated. The gene was found to be 110 kb in length and to contain 40 exons. Analysis of the proximal 5'-flanking region showed properties characteristic of a housekeeping gene promoter, and functional analysis identified cis-acting elements for both positive and negative regulation of Col15a1 gene expression. The general exon-intron pattern of the mouse Col15a1 gene was found to be highly similar to that of its human homologue, and comparison of 5'-flanking sequences indicated four co
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Book chapters on the topic "Knobloch syndrome"

1

"Knobloch Syndrome." In Encyclopedia of Cancer. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-16483-5_3234.

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