Zobrazeno 1 - 10
of 25
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:
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
Autor:
T J, Keen, C F, Inglehearn
Publikováno v:
Human mutation. 8(4)
The RDS gene codes for the protein peripherin-RDS, which is an integral membrane glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It is thought to function as a structural protein involved in the maintenance of the fl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::73721ac8a4622e6a912e4eba98a83159
https://pubmed.ncbi.nlm.nih.gov/8956033
https://pubmed.ncbi.nlm.nih.gov/8956033