Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Autor: Ansari, M, Rainger, J, Hanson, IM, Williamson, KA, Sharkey, F, Harewood, L, Sandilands, A, Clayton-Smith, J, Dollfus, H, Bitoun, P, Meire, F, Fantes, J, Franco, B, Lorenz, B, Taylor, DS, Stewart, F, Willoughby, CE, McEntagart, M, Khaw, PT, Clericuzio, C

Publikováno v: Ansari, M, Rainger, J, Hanson, IM, Williamson, KA, Sharkey, F, Harewood, L, Sandilands, A, Clayton-Smith, J, Dollfus, H, Bitoun, P, Meire, F, Fantes, J, Franco, B, Lorenz, B, Taylor, DS, Stewart, F, Willoughby, CE, McEntagart, M, Khaw, PT & Clericuzio, C 2016, ' Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome ', PLoS ONE, vol. 11, no. 4, e0153757 . https://doi.org/10.1371/journal.pone.0153757

We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::34a4c34e5a9e5a5b84735b5f0df5bcbd

Molecular mechanism and consequence of intrachromosomal triplication of proximal 15q

Autor: Ungaro P, Christian SJ, Fantes J, Ledbetter DH

Publikováno v: 49th Annual Meeting of the American Society of Human Genetics, 1999
info:cnr-pdr/source/autori:Ungaro P, Christian SJ, Fantes J, Ledbetter DH/congresso_nome:49th Annual Meeting of the American Society of Human Genetics/congresso_luogo:/congresso_data:1999/anno:1999/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::ec6f0b664639fee159fb4e5cf33c124c
https://publications.cnr.it/doc/213792

Report of the Fifth International Workshop on Human Chromosome 11 Mapping 1996

Autor: Shows, T. B., Alders, M., Bennett, S., Burbee, D., Cartwright, P., Chandrasekharappa, S., Cooper, P., Courseaux, A., Davies, C., Devignes, M. D., Devilee, P., Elliott, R., Evans, G., Fantes, J., Garner, H., Gaudray, P., Gerhard, D. S., Gessler, M., Higgins, M., Hummerich, H., James, M., Lagercrantz, J., Litt, M., Little, P., Mannens, M., Munroe, D., Nowak, N., O'Brien, S., Parker, N., Perlin, M., Reid, L., Richard, C., Sawicki, M., Swallow, D., Thakker, R., van Heyningen, V., van Schothorst, E., Vorechovsky, I., Wadelius, C., Weber, B., Zabel, B.

Publikováno v: Cytogenetics and cell genetics, 74(1-2), 1-56. S. Karger AG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::a92ac83eecf970fba666306d34116ddb
https://pure.amc.nl/en/publications/report-of-the-fifth-international-workshop-on-human-chromosome-11-mapping-1996(707760be-622c-4acf-9f32-e5a59ad221ea).html

De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier

Autor: Bonthron, D T, Smith, S J, Fantes, J, Gosden, C M

Robertsonian translocations are usually ascertained through abnormal children, making proposed phenotypic effects of apparently balanced translocations difficult to study in an unbiased way. From molecular genetic studies, though, some apparently bal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::37cad39e75cd394a3f3cf9414cdc7a57
https://europepmc.org/articles/PMC1682413/

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