Zobrazeno 1 - 10
of 95
pro vyhledávání: '"C. F. Inglehearn"'
Autor:
C E L, Smith, J A, Poulter, S J, Brookes, G, Murillo, S, Silva, C J, Brown, A, Patel, H, Hussain, J, Kirkham, C F, Inglehearn, A J, Mighell
Publikováno v:
Journal of Dental Research
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders characterized by abnormal formation of dental enamel, either in isolation or as part of a syndrome. Heterozygous variants in laminin subunit beta 3 (LAMB3) cause AI with dom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ab40d57d3d25678511fd3a2ee6dca3b0
https://pubmed.ncbi.nlm.nih.gov/30905256
https://pubmed.ncbi.nlm.nih.gov/30905256
Autor:
Zheng, Naying1 (AUTHOR), Liao, Tingting1 (AUTHOR), Zhang, Chuchu1 (AUTHOR), Zhang, Zheyang1 (AUTHOR), Yan, Sen2 (AUTHOR), Xi, Xiaohan2 (AUTHOR), Ruan, Fengkai1 (AUTHOR), Yang, Chunyan1 (AUTHOR), Zhao, Qingliang3 (AUTHOR), Deng, Wenbo4 (AUTHOR), Huang, Jialiang1 (AUTHOR), Huang, Zi‐Tao5 (AUTHOR), Chen, Zhi‐Feng5 (AUTHOR), Wang, Xiang2 (AUTHOR), Qu, Qingming1 (AUTHOR), Zuo, Zhenghong1 (AUTHOR) zuozhenghong@xmu.edu.cn, He, Chengyong1 (AUTHOR) hecy@xmu.edu.cn
Publikováno v:
Advanced Science. 12/11/2024, Vol. 11 Issue 46, p1-19. 19p.
Autor:
Linda A. Ficker, C F Inglehearn, Catherine Plant, N. M. G. Toma, S. S. Bhattacharya, Neil D. Ebenezer
Publikováno v:
Human Molecular Genetics. 4:2395-2398
Congenital heredity endothelial dystrophy (CHED) is a rare autosomal dominant disorder of the cornea. We have performed genetic linkage analysis with microsatellite markers on a seven generation British pedigree. Two-point linkage analysis revealed s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::441ba697e1f48d4e2604ebc3eaf5fbf4
https://doi.org/10.1093/hmg/4.12.2395
https://doi.org/10.1093/hmg/4.12.2395
Autor:
Douglas H. Lester, Marcelle Jay, Shomi S. Bhattacharya, C F Inglehearn, A C Bird, T J Keen, Rumaisa Bashir
Publikováno v:
Cytogenetic and Genome Research. 58:1875-1884
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6bcc8d2c43aeefb3341901f30c540f68
https://doi.org/10.1159/000133737
https://doi.org/10.1159/000133737
Publikováno v:
Developments in ophthalmology. 37
The name retinitis pigmentosa (RP) describes a heterogeneous group of inherited progressive retinal dystrophies, primarily affecting the peripheral retina. Patients experience night blindness and visual field loss, often leading to complete blindness
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ce72dc4b20418874d1490d6513c3543c
https://pubmed.ncbi.nlm.nih.gov/12876833
https://pubmed.ncbi.nlm.nih.gov/12876833
Autor:
M, Danciger, J, Hendrickson, J, Lyon, C, Toomes, J C, McHale, G A, Fishman, C F, Inglehearn, S G, Jacobson, D B, Farber
Publikováno v:
Investigative ophthalmologyvisual science. 42(11)
To determine the locus of the mutant gene causing autosomal recessive cone-rod dystrophy (arCRD) in a consanguineous pedigree, to evaluate a candidate gene expressed in retina that maps to this locus, and to estimate the percentage of arCRD cases cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6c768bcbc75f62982955b1a8c56fc365
https://pubmed.ncbi.nlm.nih.gov/11581183
https://pubmed.ncbi.nlm.nih.gov/11581183
Publikováno v:
The British journal of ophthalmology. 85(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0a4e687c0fe06bda7dd3042189e986f2
https://pubmed.ncbi.nlm.nih.gov/11439918
https://pubmed.ncbi.nlm.nih.gov/11439918
Publikováno v:
Human mutation. 15(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e7de747e5342d0353078ba31819926d0
https://pubmed.ncbi.nlm.nih.gov/10862096
https://pubmed.ncbi.nlm.nih.gov/10862096
Autor:
P A, Reynolds, R M, Powlesland, T J, Keen, C F, Inglehearn, A F, Cunningham, E D, Green, K W, Brown
Publikováno v:
Genes, chromosomescancer. 17(3)
Cytogenetic analysis of predisposition syndromes has played a critical role in the elucidation of the genetics of Wilms' tumor (WT). Therefore, we became interested in a patient who presented with a WT and a nephrogenic rest in the contralateral kidn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fbc99a71df17b9386df931d5e7a0ff6d
https://pubmed.ncbi.nlm.nih.gov/8946193
https://pubmed.ncbi.nlm.nih.gov/8946193
Autor:
M, Al-Maghtheh, E, Vithana, E, Tarttelin, M, Jay, K, Evans, T, Moore, S, Bhattacharya, C F, Inglehearn
Publikováno v:
American journal of human genetics. 59(4)
Retinitis pigmentosa (RP) is the name given to a heterogeneous group of retinal degenerations mapping to at least 16 loci. The autosomal dominant form (ARP), accounting for approximately 25% of cases, can be caused by mutations in two genes, rhodopsi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b24e4f49378395afa28404a36b33d466
https://pubmed.ncbi.nlm.nih.gov/8808602
https://pubmed.ncbi.nlm.nih.gov/8808602