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
Vydáno 2012

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.
Vydáno 2010

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.
Vydáno 2009

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. 
Vydáno 2007

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
Vydáno 2013

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.
Vydáno v Proc Natl Acad Sci U S A (2015)

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.
Vydáno 2008

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.
Vydáno 2010

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.
Vydáno 2009

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.
Vydáno 2011

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.
Vydáno 2011