Autosomal-dominant Ankyloglossia and Tooth Number Anomalies
Acevedo, A.C., da Fonseca, J.A.C., Grinham, J., Doudney, K., Gomes, R.R., de Paula, L.M., Stanier, P.
Published in Journal of dental research (01.02.2010)
Published in Journal of dental research (01.02.2010)
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Journal Article
TBX22 mutations are a frequent cause of cleft palate
Marçano, A C B, Doudney, K, Braybrook, C, Squires, R, Patton, M A, Lees, M M, Richieri-Costa, A, Lidral, A C, Murray, J C, Moore, G E, Stanier, P
Published in Journal of medical genetics (01.01.2004)
Published in Journal of medical genetics (01.01.2004)
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Journal Article
Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects
Doudney, K., Grinham, J., Whittaker, J., Lynch, S.A., Thompson, D., Moore, G.E., Copp, A.J., Greene, N.D.E., Stanier, P.
Published in American journal of medical genetics. Part A (01.07.2009)
Published in American journal of medical genetics. Part A (01.07.2009)
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Journal Article
Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients
Doudney, K., Moore, G.E., Stanier, P., Ybot-Gonzalez, P., Paternotte, C., Greene, N.D.E., Copp, A.J., Stevenson, R.E.
Published in American journal of medical genetics. Part A (01.07.2005)
Published in American journal of medical genetics. Part A (01.07.2005)
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Journal Article
Upstream genetic variant near INSIG2, influences response to carnitine supplementation in bipolar patients with valproate-induced weight gain
Doudney, K, Harley, JA, Pearson, JF, Miller, A, Aitchison, A, Kennedy, MA, Porter, RJ, Elmslie, JL, Joyce, PR
Published in Acta neuropsychiatrica (01.06.2009)
Published in Acta neuropsychiatrica (01.06.2009)
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Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralog Vangl1 in neural tube defect patients (Am J Med Genet 136A: 90-92, 2005)
Doudney, K., Moore, G.E., Stanier, P., Ybot-Gonzalez, P., Paternotte, C., Greene, N.D.E., Copp, A.J., Stevenson, R.E.
Published in American journal of medical genetics. Part A (01.11.2005)
Published in American journal of medical genetics. Part A (01.11.2005)
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A family with pseudodominant Friedreich’s ataxia showing marked variation of phenotype between affected siblings
Webb, Stewart, Doudney, Kit, Pook, Mark, Chamberlain, Susan, Hutchinson, Michael
Published in Journal of neurology, neurosurgery and psychiatry (01.08.1999)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.1999)
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Conference Proceeding
Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse
Murdoch, Jennifer N., Henderson, Deborah J., Doudney, Kit, Gaston-Massuet, Carles, Phillips, Helen M., Paternotte, Caroline, Arkell, Ruth, Stanier, Philip, Copp, Andrew J.
Published in Human molecular genetics (15.01.2003)
Published in Human molecular genetics (15.01.2003)
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Journal Article
Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification
MURDOCH, Jennifer N, DOUDNEY, Kit, PATERNOTTE, Caroline, COPP, Andrew J, STANIER, Philip
Published in Human molecular genetics (15.10.2001)
Published in Human molecular genetics (15.10.2001)
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Journal Article
TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression
Andreou, Artemisia M., Pauws, Erwin, Jones, Marius C., Singh, Manvendra K., Bussen, Markus, Doudney, Kit, Moore, Gudrun E., Kispert, Andreas, Brosens, Jan J., Stanier, Philip
Published in American journal of human genetics (01.10.2007)
Published in American journal of human genetics (01.10.2007)
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Journal Article
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia
Arnason, Alfred, Marçano, Ana Carolina B, Braybrook, Claire, Goodfellow, Paul J, Doudney, Kit, Moore, Gudrun E, Patton, Michael A, Stanier, Philip, Bjornsson, Arni
Published in Nature genetics (01.10.2001)
Published in Nature genetics (01.10.2001)
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Journal Article
PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy
Moreau De Bellaing, A., Guimier, A., Bajolle, F., Turner, C., Grove, M., Dunn, K., Katta, G., Crozier, I., Kidd, A., Mayr, J., Rotig, A., Di Rago, J.P., Delahodde, A., Lyonnet, S., Doudney, K., Kennedy, H., Amiel, J., Gordon, C., Bonnet, D.
Published in Archives of Cardiovascular Diseases Supplements (01.01.2019)
Published in Archives of Cardiovascular Diseases Supplements (01.01.2019)
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Epithelial cell polarity genes are required for neural tube closure
Doudney, Kit, Stanier, Philip
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.05.2005)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.05.2005)
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Journal Article
Abnormal folate metabolism in foetuses affected by neural tube defects
Dunlevy, Louisa P. E., Chitty, Lyn S., Burren, Katie A., Doudney, Kit, Stojilkovic-Mikic, Taita, Stanier, Philip, Scott, Rosemary, Copp, Andrew J., Greene, Nicholas D. E.
Published in Brain (London, England : 1878) (01.04.2007)
Published in Brain (London, England : 1878) (01.04.2007)
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Journal Article
PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy
Bellaing, A. Moreau de, Guimier, A., Bajolle, F., Turner, C., Grove, M., Dunn, K., Katta, G., Crozier, I., Kidd, A., Mayr, J., Rotig, A., Di Rago, JP, Delahodde, A., Lyonnet, S., Kennedy, H., Doudney, K., Amiel, J., Gordon, C., Bonnet, D.
Published in Archives of Cardiovascular Diseases Supplements (01.09.2018)
Published in Archives of Cardiovascular Diseases Supplements (01.09.2018)
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Journal Article
Physical evidence for the position of the Friedreich's ataxia locus FRDA proximal to D9S5
Hillermann, R, See, C G, Pook, M, Wilkes, D, Carvajal, J, Doudney, K, Williamson, R, Chamberlain, S
Published in Cytogenetics and cell genetics (01.01.1995)
Published in Cytogenetics and cell genetics (01.01.1995)
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Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients
Braybrook, Claire, Lisgo, Steven, Doudney, Kit, Henderson, Deborah, Marçano, Ana Carolina B., Strachan, Tom, Patton, Michael A., Villard, Laurent, Moore, Gudrun E., Stanier, Philip, Lindsay, Susan
Published in Human molecular genetics (15.10.2002)
Published in Human molecular genetics (15.10.2002)
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