Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ivan, Prokudin"'
Autor:
Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A Almontashiri, Julia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancié, Patrick Calvas, Jean-Michel Rozet, Arif O Khan, Fadi F Hamdan, Robyn V Jamieson, Fowzan S Alkuraya, Jacques L Michaud, Nicolas Chassaing
Publikováno v:
Journal of Medical Genetics. 60:294-300
BackgroundPulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants inRARBandSTRA6, which
Autor:
Kagistia H Utami, Axel M Hillmer, Irene Aksoy, Elaine G Y Chew, Audrey S M Teo, Zhenshui Zhang, Charlie W H Lee, Pauline J Chen, Chan Chee Seng, Pramila N Ariyaratne, Sigrid L Rouam, Lim Seong Soo, Saira Yousoof, Ivan Prokudin, Gregory Peters, Felicity Collins, Meredith Wilson, Alyson Kakakios, Georges Haddad, Arnaud Menuet, Olivier Perche, Stacey Kiat Hong Tay, Ken W K Sung, Xiaoan Ruan, Yijun Ruan, Edison T Liu, Sylvain Briault, Robyn V Jamieson, Sonia Davila, Valere Cacheux
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e90852 (2014)
Delineating candidate genes at the chromosomal breakpoint regions in the apparently balanced chromosome rearrangements (ABCR) has been shown to be more effective with the emergence of next-generation sequencing (NGS) technologies. We employed a large
Externí odkaz:
https://doaj.org/article/f08ec6b361204c559748e2e486235dd1
Autor:
Clare L. Fraser, Frank A. Billson, Frank Martin, Anson Cheng, David Mowat, Bruce Bennetts, Robyn V. Jamieson, John R. Grigg, Katherine Holman, Alan Ma, Maree Flaherty, Elizabeth Farnsworth, Gladys Ho, James E. H. Smith, John Christodoulou, Ivan Prokudin
Publikováno v:
Human Mutation
Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and glaucoma, and there can be syndromic associations. Genetic diagnosis is c
Autor:
Yulan Chen, Robyn V. Jamieson, Loreto V. T. Rose, Sijie He, Lifeng Tian, Ivan Prokudin, Yiran Guo, Brendan J. Keating, Meredith Wilson, Xun Xu, Jinlong Liang, Hakon Hakonarson, Linda Goodwin, Dong Li
Publikováno v:
Clinical & Experimental Ophthalmology. 43:132-138
Background Several retinal dystrophies are associated with syndromic features including such conditions as Bardet–Biedl and Joubert syndromes. Cohen syndrome is an autosomal recessive disorder associated with multiple clinical manifestations includ
Autor:
Jinlong Liang, James Snyder, Cong Yu, Yi Xie, Lyam Vazquez, Nada Abdel-Magid, Ivan Prokudin, Hakon Hakonarson, Robyn V. Jamieson, Brendan J. Keating, Fengxiang Wang, Craig Donaldson, Stephanie Crofts, Jun Wang, Yiran Guo, Maree Flaherty, Lifeng Tian
Publikováno v:
Ophthalmic Genetics. 36:333-338
Leber congenital amaurosis (LCA) is a severe form of retinal dystrophy with marked underlying genetic heterogeneity. Until recently, allele-specific assays and Sanger sequencing of targeted segments were the only available approaches for attempted ge
Autor:
Maree Flaherty, John R. Grigg, Vikrant Kumar, Cas Simons, James E. H. Smith, Rebecca Storen, Sonia Davila, Ivan Prokudin, Zai Y Phua, Robyn V. Jamieson
Publikováno v:
European Journal of Human Genetics. 22:907-915
Developmental eye diseases, including cataract/microcornea, Peters anomaly and coloboma/microphthalmia/anophthalmia, are caused by mutations encoding many different signalling and structural proteins in the developing eye. All modes of Mendelian inhe
Autor:
Ivan, Prokudin, Dong, Li, Sijie, He, Yiran, Guo, Linda, Goodwin, Meredith, Wilson, Loreto, Rose, Lifeng, Tian, Yulan, Chen, Jinlong, Liang, Brendan, Keating, Xun, Xu, Robyn V, Jamieson, Hakon, Hakonarson
Publikováno v:
Clinicalexperimental ophthalmology. 43(2)
Several retinal dystrophies are associated with syndromic features including such conditions as Bardet-Biedl and Joubert syndromes. Cohen syndrome is an autosomal recessive disorder associated with multiple clinical manifestations including developme
Autor:
Lukas A. Huber, Guenther K. Bonn, Reinhard Kofler, Taras Stasyk, Johannes Rainer, Ivan Prokudin
Publikováno v:
Proteomics. 11(3)
Scaffold proteins regulate intracellular MAP kinase signaling by providing critical spatial and temporal specificities. We have shown previously that the scaffold protein MEK1 partner (MP1) is localized to late endosomes by the adaptor protein p14. U
Autor:
Audrey S.M. Teo, Sylvain Briault, Ivan Prokudin, Ken W. K. Sung, Sonia Davila, Meredith Wilson, Sigrid L. Rouam, Alyson Kakakios, Arnaud Menuet, Chan Chee Seng, Irene Aksoy, Olivier Perche, Elaine G.Y. Chew, Pauline J. Chen, Gregory Peters, Stacey K.H. Tay, Lim Soo, Zhenshui Zhang, Georges Haddad, Edison T. Liu, Felicity Collins, Kagistia Hana Utami, Saira Yousoof, Yijun Ruan, Charlie W.H. Lee, Xiaoan Ruan, Robyn V. Jamieson, Pramila N. Ariyaratne, Axel M. Hillmer, Valère Cacheux
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e90852 (2014)
PLoS ONE
PLoS ONE
Delineating candidate genes at the chromosomal breakpoint regions in the apparently balanced chromosome rearrangements (ABCR) has been shown to be more effective with the emergence of next-generation sequencing (NGS) technologies. We employed a large