Results
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21.
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Brittle cornea syndrome: recognition, molecular diagnosis and management. [electronic resource] by
- Burkitt Wright, Emma M M
- Porter, Louise F
- Spencer, Helen L
- Clayton-Smith, Jill
- Au, Leon
- Munier, Francis L
- Smithson, Sarah
- Suri, Mohnish
- Rohrbach, Marianne
- Manson, Forbes D C
- Black, Graeme C M
Producer: 20140102
In:
Orphanet journal of rare diseases vol. 8
Availability: No items available.
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22.
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The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. [electronic resource] by
- 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
Producer: 20090702
In:
American journal of human genetics vol. 84
Availability: No items available.
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23.
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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. [electronic resource] by
- 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
Producer: 20070921
In:
American journal of human genetics vol. 81
Availability: No items available.
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24.
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Childhood-onset autosomal recessive bestrophinopathy. [electronic resource] by
- Borman, Arundhati Dev
- Davidson, Alice E
- O'Sullivan, James
- Thompson, Dorothy A
- Robson, Anthony G
- De Baere, Elfride
- Black, Graeme C M
- Webster, Andrew R
- Holder, Graham E
- Leroy, Bart P
- Manson, Forbes D C
- Moore, Anthony T
Producer: 20110929
In:
Archives of ophthalmology (Chicago, Ill. : 1960) vol. 129
Availability: No items available.
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25.
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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. [electronic resource] by
- 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
Producer: 20140122
In:
Molecular genetics and metabolism vol. 109
Availability: No items available.
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26.
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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. [electronic resource] by
- 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
Producer: 20151110
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 112
Availability: No items available.
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27.
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Biallelic mutation of BEST1 causes a distinct retinopathy in humans. [electronic resource] by
- 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
Producer: 20080130
In:
American journal of human genetics vol. 82
Availability: No items available.
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28.
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Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. [electronic resource] by
- 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
Producer: 20100621
In:
American journal of human genetics vol. 86
Availability: No items available.
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29.
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Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. [electronic resource] by
- 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
Producer: 20091222
In:
American journal of human genetics vol. 85
Availability: No items available.
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30.
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Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. [electronic resource] by
- Kolehmainen, Juha
- Wilkinson, Robert
- Lehesjoki, Anna-Elina
- Chandler, Kate
- Kivitie-Kallio, Satu
- Clayton-Smith, Jill
- Träskelin, Ann-Liz
- Waris, Laura
- Saarinen, Anne
- Khan, Jabbar
- Gross-Tsur, Varda
- Traboulsi, Elias I
- Warburg, Mette
- Fryns, Jean-Pierre
- Norio, Reijo
- Black, Graeme C M
- Manson, Forbes D C
Producer: 20040720
In:
American journal of human genetics vol. 75
Availability: No items available.
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31.
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Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). [electronic resource] by
- Yardley, Jill
- Leroy, Bart P
- Hart-Holden, Niki
- Lafaut, Bart A
- Loeys, Bart
- Messiaen, Ludwine M
- Perveen, Rahat
- Reddy, M Ashwin
- Bhattacharya, Shomi S
- Traboulsi, Elias
- Baralle, Diana
- De Laey, Jean-Jacques
- Puech, Bernard
- Kestelyn, Philippe
- Moore, Anthony T
- Manson, Forbes D C
- Black, Graeme C M
Producer: 20041106
In:
Investigative ophthalmology & visual science vol. 45
Availability: No items available.
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32.
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Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. [electronic resource] by
- 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
Producer: 20110817
In:
American journal of human genetics vol. 88
Availability: No items available.
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