Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Coloboma/genetics"'
Autor:
Bernd Wollnik, Siham Chafai Elalaoui, Kapil Bharti, Connie R. Bezzina, Najim Lahrouchi, Ruchi Sharma, Amina Berraho, Najlae Adadi, Abdelaziz Sefiani, Janine Altmueller, Stanislas Lyonnet, Mones Abu-Asab, Alessandro Plebani, Vardiella Meiner, Felix Onojafe, Sanita Bharti, Yassine Lamsyah, Friedhelm Hildebrandt, Helen McNeill, Ronen Schneider, Alexandra Henrion-Caude, Hamza Elorch, Fatima-Zahra Laarabi, Imane Chebbar, Ilham Ratbi, Elisabeth M. Lodder, Alex V. Postma, Brian P. Brooks, Aman George, Shahida Moosa, Henriette Kyrieleis, Vassilios Lougaris
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature communications, 10(1). Nature Publishing Group
Nature Communications
Nature communications, 10(1). Nature Publishing Group
Nature Communications
A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropathy, associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813282bd9ed009737dce5ec983af210b
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3
Autor:
Raquel Pittiglio, Beth A. Marosy, Ethylin Wang Jabs, P Calvas, Nicolas Chassaing, Roxann G. Ingersoll, Jill A. Barton, Alan F. Scott, David W. Mohr, Shreya S. Prabhu, Thomas H. Roderick, William C. Bromley, Brian Craig, Laura Kasch, Kimberly F. Doheny
Publikováno v:
JAMA Ophthalmology
JAMA Ophthalmology, American Medical Association 2014, 132 (10), pp.1215. ⟨10.1001/jamaophthalmol.2014.1731⟩
JAMA Ophthalmology, American Medical Association 2014, 132 (10), pp.1215. ⟨10.1001/jamaophthalmol.2014.1731⟩
International audience; Importance: Microphthalmias are rare disorders whose genetic bases are not fully understood. HMGB3 is a new candidate gene for X-linked forms of this disease.Objective: To identify the causative gene in a pedigree with an X-li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::485582e5d8fe88c73552beb129ca692f
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03240874
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03240874
Autor:
Daniel F. Schorderet, Nicolas Chassaing, Tanya Bardakjian, Lars Ellgaard, Jan Riemer, Jarema Malicki, Yan Zhang, Douglas B. Gould, Pui-Yan Kwok, Adele Schneider, David R. FitzPatrick, Matthew Akana, Linda M Nevin, Xiaoyang Bai, Pooja Agarwal, Nelson JimenezLopez, Allen Delaney, Herwig Baier, Ryan Chao, Anne Slavotinek
Publikováno v:
Plos One, vol. 5, no. 5, pp. e10565
PloS one, vol 5, iss 5
Chao, R, Nevin, L, Agarwal, P, Riemer, J, Bai, X, Delaney, A, Akana, M, JimenezLopez, N, Bardakjian, T, Schneider, A, Chassaing, N, Schorderet, D F, FitzPatrick, D, Kwok, P, Ellgaard, L, Gould, D B, Zhang, Y, Malicki, J, Baier, H & Slavotinek, A 2010, ' A male with unilateral microphthalmia reveals a role for TMX3 in eye development ', PLoS ONE, vol. 5, no. 5, pp. e10565 . https://doi.org/10.1371/journal.pone.0010565
PLoS ONE, Vol 5, Iss 5, p e10565 (2010)
PLoS ONE
PloS one, vol 5, iss 5
Chao, R, Nevin, L, Agarwal, P, Riemer, J, Bai, X, Delaney, A, Akana, M, JimenezLopez, N, Bardakjian, T, Schneider, A, Chassaing, N, Schorderet, D F, FitzPatrick, D, Kwok, P, Ellgaard, L, Gould, D B, Zhang, Y, Malicki, J, Baier, H & Slavotinek, A 2010, ' A male with unilateral microphthalmia reveals a role for TMX3 in eye development ', PLoS ONE, vol. 5, no. 5, pp. e10565 . https://doi.org/10.1371/journal.pone.0010565
PLoS ONE, Vol 5, Iss 5, p e10565 (2010)
PLoS ONE
Udgivelsesdato: May 2010 Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe unilateral microphthalmia who had a 2.7 Mb deletion at chromosome 18q22.1 t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c399ff78fa67543942712947e03f3c7
https://serval.unil.ch/notice/serval:BIB_41E9F009D72C
https://serval.unil.ch/notice/serval:BIB_41E9F009D72C
Autor:
Ad Geurts van Kessel, Jane A. Hurst, Pieter J. de Jong, Bert B.A. de Vries, Eric F.P.M. Schoenmakers, Walter van der Vliet, Erik Huys, Irene M. Janssen, Ben C.J. Hamel, Joris A. Veltman, Han G. Brunner, Conny M.A. van Ravenswaaij, Ronald J.C. Admiraal, Lisenka E.L.M. Vissers
Publikováno v:
Nature Genetics, 36(9), 955-957. Nature Publishing Group
Nature Genetics, 36, 955-7
Nature Genetics, 36, 9, pp. 955-7
Nature Genetics, 36, 955-7
Nature Genetics, 36, 9, pp. 955-7
Contains fulltext : 58659.pdf (Publisher’s version ) (Closed access) CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::889450128cc927dd0cfedca8bd5450b8
https://doi.org/10.1038/ng1407
https://doi.org/10.1038/ng1407
Autor:
Rahat Perveen, Martin Carette, Robyn V. Jamieson, Graeme C.M. Black, Di Donnai, Francis L. Munier, Bronwyn Kerr, Veronica van Heyningen, Jill Yardley, M. Gabriela Wirth, Elise Heon
Publikováno v:
Scopus-Elsevier
Human Molecular Genetics, vol. 11, no. 1, pp. 33-42
Human Molecular Genetics, vol. 11, no. 1, pp. 33-42
Human congenital cataract and ocular anterior segment dysgenesis both demonstrate extensive genetic and phenotypic heterogeneity. We identified a family where ocular developmental abnormalities (cataract, anterior segment dysgenesis and microphthalmi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::309bc36e0f7934dabdb6d4572c9aa742
http://www.scopus.com/inward/record.url?eid=2-s2.0-0036156544&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0036156544&partnerID=MN8TOARS