Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Kelly, Springell"'
Autor:
Rajarshi Mukhopadhyay, Graeme C.M. Black, James O'Sullivan, Cécilia Maubaret, Athina Kipioti, Chris F. Inglehearn, Vernon Long, Martin McKibbin, Raj Ramesar, Anthony T. Moore, Parastoo Ehsani, Andrew R. Webster, Katherine V. Towns, Kelly Springell, Jean D. Beggs, Mohammed Kamal, Veronika Vaclavik, Shomi S. Bhattacharya, David A. Mackey, Eric A. Pierce
Publikováno v:
Towns, K V, Kipioti, A, Long, V, McKibbin, M, Maubaret, C, Vaclavik, V, Ehsani, P, Springell, K, Kamal, M, Ramesar, R S, Mackey, D A, Moore, A T, Mukhopadhyay, R, Webster, A R, Black, G C M, O'Sullivan, J, Bhattacharya, S S, Pierce, E A, Beggs, J D & Inglehearn, C F 2010, ' Prognosis for Splicing Factor PRPF8 Retinitis Pigmentosa, Novel Mutations and Correlation between Human and Yeast Phenotypes ', Human Mutation, vol. 31, no. 5, pp. E1361-E1376 . https://doi.org/10.1002/humu.21236
PRPF8-retinitis pigmentosa is said to be severe but there has been no overview of phenotype across different mutations. We screened RP patients for PRPF8 mutations and identified three new missense mutations, including the first documented mutation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::746b50e701a5aaeb895634bf8ed096fc
https://doi.org/10.1002/humu.21236
https://doi.org/10.1002/humu.21236
Autor:
Lenka Ivings, Martin McKibbin, Uwe Wolfrum, Erwin van Wijk, Ferry F.J. Kersten, Bert van der Zwaag, Michael E. Cheetham, Tim M. Strom, G. A. Williams, Sylvia E. C. van Beersum, Chris F. Inglehearn, Sharola Dharmaraj, Marius Ueffing, Tina Sedmak, Frans P.M. Cremers, C. Geoff Woods, Joris A. Veltman, Marijke N. Zonneveld, Moin Mohamed, Karsten Boldt, Ronald Roepman, Heleen H. Arts, Irene H. Maumenee, Kerstin Nagel-Wolfrum, Irma Lopez, Hussain Jafri, Yasmin Rashid, Monika Beer, Ilse Gosens, Anneke I. den Hollander, Katherine V. Towns, Kelly Springell, Robert K. Koenekoop
Publikováno v:
Nature Genetics, 39, 7, pp. 889-95
Nature Genetics, 39, 889-95
Nature Genetics, 39, 889-95
Contains fulltext : 53618.pdf (Publisher’s version ) (Closed access) Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eb62f5f5c7163ad762001380759bbc0
https://doi.org/10.1038/ng2066
https://doi.org/10.1038/ng2066
Autor:
Kelly Springell, Carmel Toomes, Sigmar Stricker, Jacquelyn Bond, Lihadh Al-Gazali, James J. Cox, G. Karbani, Sheila Scott, Rowena Stern, Saghira Malik Sharif, Stefan Mundlos, Emma Roberts, Dhavendra Kumar, Petra Seemann, E. Sherridan, Christopher Geoffrey Woods
Publikováno v:
American Journal of Human Genetics (Chicago, IL)
Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with thes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c384ef500e967bb040147bbcc80d14b7
Autor:
Daniel J. Hampshire, Richard Sandford, Jacquelyn Bond, C. Geoffrey Woods, David Clayton, James J. Cox, Moin Mohamed, Chris F. Inglehearn, Saghira Malik Sharif, Mustaq Ahmed, Rowena Stern, F. Lucy Raymond, G. Karbani, Martin McKibbin, Kelly Springell
Publikováno v:
The American Journal of Human Genetics. 78:889-896
Individuals born of consanguineous union have segments of their genomes that are homozygous as a result of inheriting identical ancestral genomic segments through both parents. One consequence of this is an increased incidence of recessive disease wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35db61d0fae8af76c6c33bab04170e1d
https://doi.org/10.1086/503875
https://doi.org/10.1086/503875
Autor:
Abdulrahman Alswaid, Kelly Springell, Sheila Scott, Ganesh H. Mochida, Raoul C.M. Hennekam, Ammar F. Mubaidin, Christopher A. Walsh, Daniel J. Hampshire, Peter Corry, Hussain Jafri, Yasmin Rashid, Emma Roberts, C. Geoffrey Woods, Marc Abramowicz, Eamonn R. Maher, Jean-Pierre Fryns, Jacquelyn Bond
Publikováno v:
American journal of human genetics, 73(5), 1170-1177. Cell Press
American Journal of Human Genetics, 73, 1170-1177. Cell Press
American Journal of Human Genetics, 73, 1170-1177. Cell Press
Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary microcephaly (MCPH), a condition in which there is a failure of normal fetal brain development, resulting in congenital microc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb53ad4a57dce492d2a1d42376de5ed4
https://hdl.handle.net/11245/1.217242
https://hdl.handle.net/11245/1.217242
Autor:
Yanick J. Crow, Kelly Springell, Jacquelyn Bond, Meera Mahadevan, Emma Roberts, C. Geoffrey Woods, Daniel J. Hampshire, Ganesh H. Mochida, Sheila Scott, Alexander F. Markham, J M Askham, Christopher A. Walsh
Publikováno v:
Nature Genetics. 32:316-320
One of the most notable trends in mammalian evolution is the massive increase in size of the cerebral cortex, especially in primates. Humans with autosomal recessive primary microcephaly (MCPH) show a small but otherwise grossly normal cerebral corte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec616413705aad79471c4a36a259b08a
https://doi.org/10.1038/ng995
https://doi.org/10.1038/ng995
Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31
Publikováno v:
British Journal of Ophthalmology. 91:1411-1413
Autosomal dominant retinitis pigmentosa results from mutations in 14 known proteins, and at least two further loci have been highlighted by genetic linkage in families (reviewed by the RetNet website; http://www.sph.uth.tmc.edu/Retnet/). The known ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ed8f4ab0379e0567a1d17ff4898e4f4
https://doi.org/10.1136/bjo.2006.105163
https://doi.org/10.1136/bjo.2006.105163
Autor:
Jacquelyn, Bond, Emma, Roberts, Kelly, Springell, Sofia B, Lizarraga, Sophia, Lizarraga, Sheila, Scott, Julie, Higgins, Daniel J, Hampshire, Ewan E, Morrison, Gabriella F, Leal, Elias O, Silva, Suzana M R, Costa, Diana, Baralle, Michela, Raponi, Gulshan, Karbani, Yasmin, Rashid, Hussain, Jafri, Christopher, Bennett, Peter, Corry, Christopher A, Walsh, C Geoffrey, Woods
Publikováno v:
Nature Genetics. 37:353-355
Autosomal recessive primary microcephaly is a potential model in which to research genes involved in human brain growth. We show that two forms of the disorder result from homozygous mutations in the genes CDK5RAP2 and CENPJ. We found neuroepithelial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7817badc142d0e7605a820521069b79d
https://doi.org/10.1038/ng1539
https://doi.org/10.1038/ng1539
Autor:
Eamonn Sheridan, Kaya Bilguvar, Murat Gunel, Susan Lindsay, James J. Cox, Saghira Malik, Ofélia P. Carvalho, Okay Caglayan, Caroline Gannon, Mehmet Bakırcıoğlu, Moira Crosier, Fanni Gergely, Alp Dinçer, Oliver Quarrell, C. Geoffrey Woods, G. Karbani, Saliha Yilmaz, Tanyeri Barak, Maryam Khurshid, Kelly Springell, Adeline K Nicholas, Steven Lisgo, Beyhan Tüysüz
We investigated three families whose offspring had extreme microcephaly at birth and profound mental retardation. Brain scans and postmortem data showed that affected individuals had brains less than 10\% of expected size (T (p.Ala29GlnfsX114) in a T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d6bdebf5cfd99f5ce124be258854baf
https://avesis.deu.edu.tr/publication/details/901aa39d-074e-4ffe-a6b9-657bee28d36e/oai
https://avesis.deu.edu.tr/publication/details/901aa39d-074e-4ffe-a6b9-657bee28d36e/oai
Autor:
Chris F. Inglehearn, Hussain Jafri, Bishwanath Pal, Martin McKibbin, Manir Ali, Adam P. Booth, Yasmin Raashid, Moin Mohamed, Kelly Springell, Fiona Bishop
Publikováno v:
Archives of ophthalmology (Chicago, Ill. : 1960). 128(1)
Objectives To report the genetic basis of Leber congenital amaurosis (LCA) in northern Pakistan and to describe the phenotype. Methods DNA from 14 families was analyzed using single-nucleotide polymorphism and microsatellite genotyping and direct seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a01195128725b9602210e9ce04d1d7ab
https://pubmed.ncbi.nlm.nih.gov/20065226
https://pubmed.ncbi.nlm.nih.gov/20065226