Výsledky vyhledávání - Manson, Forbes D.C.

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies) Autor Ramsden, Simon C, Davidson, Alice E, Leroy, Bart P, Moore, Anthony T, Webster, Andrew R, Black, Graeme C M, Manson, Forbes D C

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A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1 Autor Davidson, Alice E., Sergouniotis, Panagiotis I., Burgess-Mullan, Rosemary, Hart-Holden, Nichola, Low, Sancy, Foster, Paul J., Manson, Forbes D.C., Black, Graeme C.M., Webster, Andrew R.

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The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 Autor Hanson, Dan, Murray, Philip G., Sud, Amit, Temtamy, Samia A., Aglan, Mona, Superti-Furga, Andrea, Holder, Sue E., Urquhart, Jill, Hilton, Emma, Manson, Forbes D.C., Scambler, Peter, Black, Graeme C.M., Clayton, Peter E.

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Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum Autor Boland, Elena , Clayton-Smith, Jill , Woo, Victoria G. , McKee, Shane , Manson, Forbes D. C. , Medne, Livija , Zackai, Elaine , Swanson, Eric A. , Fitzpatrick, David , Millen, Kathleen J. , Sherr, Elliott H. , Dobyns, William B. , Black, Graeme C. M. 

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components Autor Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia

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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma Autor Conte, Ivan, Hadfield, Kristen D., Barbato, Sara, Carrella, Sabrina, Pizzo, Mariateresa, Bhat, Rajeshwari S., Carissimo, Annamaria, Karali, Marianthi, Porter, Louise F., Urquhart, Jill, Hateley, Sofie, O’Sullivan, James, Manson, Forbes D. C., Neuhauss, Stephan C. F., Banfi, Sandro, Black, Graeme C. M.

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Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans Autor Burgess, Rosemary, Millar, Ian D., Leroy, Bart P., Urquhart, Jill E., Fearon, Ian M., De Baere, Elfrida, Brown, Peter D., Robson, Anthony G., Wright, Genevieve A., Kestelyn, Philippe, Holder, Graham E., Webster, Andrew R., Manson, Forbes D.C., Black, Graeme C.M.

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Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71 Autor Nishimura, Darryl Y., Baye, Lisa M., Perveen, Rahat, Searby, Charles C., Avila-Fernandez, Almudena, Pereiro, Ines, Ayuso, Carmen, Valverde, Diana, Bishop, Paul N., Manson, Forbes D.C., Urquhart, Jill, Stone, Edwin M., Slusarski, Diane C., Black, Graeme C.M., Sheffield, Val C.

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Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa Autor Davidson, Alice E., Millar, Ian D., Urquhart, Jill E., Burgess-Mullan, Rosemary, Shweikh, Yusrah, Parry, Neil, O'Sullivan, James, Maher, Geoffrey J., McKibbin, Martin, Downes, Susan M., Lotery, Andrew J., Jacobson, Samuel G., Brown, Peter D., Black, Graeme C.M., Manson, Forbes D.C.

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance Autor Burkitt Wright, Emma M.M., Spencer, Helen L., Daly, Sarah B., Manson, Forbes D.C., Zeef, Leo A.H., Urquhart, Jill, Zoppi, Nicoletta, Bonshek, Richard, Tosounidis, Ioannis, Mohan, Meyyammai, Madden, Colm, Dodds, Annabel, Chandler, Kate E., Banka, Siddharth, Au, Leon, Clayton-Smith, Jill, Khan, Naz, Biesecker, Leslie G., Wilson, Meredith, Rohrbach, Marianne, Colombi, Marina, Giunta, Cecilia, Black, Graeme C.M.

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance Autor Burkitt Wright, Emma M.M., Spencer, Helen L., Daly, Sarah B., Manson, Forbes D.C., Zeef, Leo A.H., Urquhart, Jill, Zoppi, Nicoletta, Bonshek, Richard, Tosounidis, Ioannis, Mohan, Meyyammai, Madden, Colm, Dodds, Annabel, Chandler, Kate E., Banka, Siddharth, Au, Leon, Clayton-Smith, Jill, Khan, Naz, Biesecker, Leslie G., Wilson, Meredith, Rohrbach, Marianne, Colombi, Marina, Giunta, Cecilia, Black, Graeme C.M.

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