Investigating genotype-phenotype relationships in Rett syndrome using an international data set
Bebbington, A, Anderson, A, Ravine, D, Fyfe, S, Pineda, M, de Klerk, N, Ben-Zeev, B, Yatawara, N, Percy, A, Kaufmann, W E, Leonard, H
Published in Neurology (11.03.2008)
Published in Neurology (11.03.2008)
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Journal Article
Updating the profile of C-terminal MECP2 deletions in Rett syndrome
Bebbington, A, Percy, A, Christodoulou, J, Ravine, D, Ho, G, Jacoby, P, Anderson, A, Pineda, M, Ben Zeev, B, Bahi-Buisson, N, Smeets, E, Leonard, H
Published in Journal of medical genetics (01.04.2010)
Published in Journal of medical genetics (01.04.2010)
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Journal Article
Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach
An, J Y, Cristino, A S, Zhao, Q, Edson, J, Williams, S M, Ravine, D, Wray, J, Marshall, V M, Hunt, A, Whitehouse, A J O, Claudianos, C
Published in Translational psychiatry (03.06.2014)
Published in Translational psychiatry (03.06.2014)
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Journal Article
Valproate and risk of fracture in Rett syndrome
Leonard, H, Downs, J, Jian, L, Bebbington, A, Jacoby, P, Nagarajan, L, Ravine, D, Woodhead, H
Published in Archives of disease in childhood (01.06.2010)
Published in Archives of disease in childhood (01.06.2010)
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Journal Article
Early progressive encephalopathy in boys and MECP2 mutations
Kankirawatana, P, Leonard, H, Ellaway, C, Scurlock, J, Mansour, A, Makris, C M, Dure, 4th, L S, Friez, M, Lane, J, Kiraly-Borri, C, Fabian, V, Davis, M, Jackson, J, Christodoulou, J, Kaufmann, W E, Ravine, D, Percy, A K
Published in Neurology (11.07.2006)
Published in Neurology (11.07.2006)
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Journal Article
HFE mutations, iron deficiency and overload in 10 500 blood donors
Jackson, H. A., Carter, K., Darke, C., Guttridge, M. G., Ravine, D., Hutton, R. D., Napier, J. A., Worwood, M.
Published in British journal of haematology (01.08.2001)
Published in British journal of haematology (01.08.2001)
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Journal Article
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
Zhang, J, Bao, X, Cao, G, Jiang, S, Zhu, X, Lu, H, Jia, L, Pan, H, Fehr, S, Davis, M, Leonard, H, Ravine, D, Wu, X
Published in Clinical genetics (01.12.2012)
Published in Clinical genetics (01.12.2012)
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Journal Article
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
Archer, H L, Whatley, S D, Evans, J C, Ravine, D, Huppke, P, Kerr, A, Bunyan, D, Kerr, B, Sweeney, E, Davies, S J, Reardon, W, Horn, J, MacDermot, K D, Smith, R A, Magee, A, Donaldson, A, Crow, Y, Hermon, G, Miedzybrodzka, Z, Cooper, D N, Lazarou, L, Butler, R, Sampson, J, Pilz, D T, Laccone, F, Clarke, A J
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Journal Article
Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
Leonard, H, Colvin, L, Christodoulou, J, Schiavello, T, Williamson, S, Davis, M, Ravine, D, Fyfe, S, de Klerk, N, Matsuishi, T, Kondo, I, Clarke, A, Hackwell, S, Yamashita, Y
Published in Journal of medical genetics (01.05.2003)
Published in Journal of medical genetics (01.05.2003)
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Journal Article
Population based study of late onset cerebellar ataxia in south east Wales
Muzaimi, M B, Thomas, J, Palmer-Smith, S, Rosser, L, Harper, P S, Wiles, C M, Ravine, D, Robertson, N P
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2004)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2004)
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Journal Article
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2
Saxena, A, de Lagarde, D, Leonard, H, Williamson, S L, Vasudevan, V, Christodoulou, J, Thompson, E, MacLeod, P, Ravine, D
Published in Journal of medical genetics (01.06.2006)
Published in Journal of medical genetics (01.06.2006)
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Journal Article
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
Peters, D.J.M, Spruit, L, Saris, J.J, Ravine, D, Sandkuijl, L.A, Fossdal, R, Boersma, J, van Eijk, R, Nørby, S, Constantinou-Deltas, C.D, Pierides, A, Briessenden, J.E, Frants, R.R, van Ommen, G.-J.B, Breuning, M.H
Published in Nature genetics (01.12.1993)
Published in Nature genetics (01.12.1993)
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Journal Article
326: Circulating Stem Cells Engraft the Bronchial Epithelium in Humans after Lung Transplantation
May, L, Banerjee, B, Saxena, A, Crook, M, Charles, A, Kicic, A, O’Reilly, J, Ravine, D, Stick, S.M, Musk, M, Chambers, D.C
Published in The Journal of heart and lung transplantation (2008)
Published in The Journal of heart and lung transplantation (2008)
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Journal Article
Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6
Muzaimi, M B, Wiles, C M, Robertson, N P, Ravine, D, Compston, D A S
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2003)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2003)
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Journal Article
A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)
Veldhuisen, B., Saris, J.J., de Haij, S., Hayashi, T., Reynolds, D.M., Mochizuki, T., Elles, R., Fossdal, R., Bogdanova, N., Dijk, M. A. van, Coto, E., Ravine, D., Nôrby, S., Verellen-Dumoulin, C., Breuning, M.H., Somlo, S., Peters, D.J.M.
Published in American journal of human genetics (01.09.1997)
Published in American journal of human genetics (01.09.1997)
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