Genotyping and phenotyping of platelet function disorders
Watson, S. P., Lowe, G. C., Lordkipanidzé, M., Morgan, N. V.
Published in Journal of thrombosis and haemostasis (01.06.2013)
Published in Journal of thrombosis and haemostasis (01.06.2013)
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Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
Kurian, M A, Morgan, N V, MacPherson, L, Foster, K, Peake, D, Gupta, R, Philip, S G, Hendriksz, C, Morton, J E V, Kingston, H M, Rosser, E M, Wassmer, E, Gissen, P, Maher, E R
Published in Neurology (29.04.2008)
Published in Neurology (29.04.2008)
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Germline mutation in DOK7 associated with fetal akinesia deformation sequence
Vogt, J, Morgan, N V, Marton, T, Maxwell, S, Harrison, B J, Beeson, D, Maher, E R
Published in Journal of medical genetics (01.05.2009)
Published in Journal of medical genetics (01.05.2009)
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Journal Article
Deletion and reduced expression of the fanconi anemia FANCA gene in sporadic acute myeloid leukemia
TISCHKOWITZ, M. D, MORGAN, N. V, GRIMWADE, D, EDDY, C, BALL, S, VORECHOVSKY, I, LANGABEER, S, STÖGER, R, HODGSON, S. V, MATHEW, C. G
Published in Leukemia (01.03.2004)
Published in Leukemia (01.03.2004)
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Journal Article
Molecular and Genealogical Evidence for a Founder Effect in Fanconi Anemia Families of the Afrikaner Population of South Africa
Tipping, A. J., Pearson, T., Morgan, N. V., Gibson, R. A., Kuyt, L. P., Havenga, C., Gluckman, E., Joenje, H., de Ravel, T., Jansen, S., Mathew, C. G.
Published in Proceedings of the National Academy of Sciences - PNAS (08.05.2001)
Published in Proceedings of the National Academy of Sciences - PNAS (08.05.2001)
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Journal Article
Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders
Leo, V. C., Morgan, N. V., Bem, D., Jones, M. L., Lowe, G. C., Lordkipanidzé, M., Drake, S., Simpson, M. A., Gissen, P., Mumford, A., Watson, S. P., Daly, M. E.
Published in Journal of thrombosis and haemostasis (01.04.2015)
Published in Journal of thrombosis and haemostasis (01.04.2015)
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Journal Article
Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma
Morris, M R, Maina, E, Morgan, N V, Gentle, D, Astuti, D, Moch, H, Kishida, T, Yao, M, Schraml, P, Richards, F M, Latif, F, Maher, E R
Published in Journal of clinical pathology (01.07.2004)
Published in Journal of clinical pathology (01.07.2004)
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Journal Article
Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism
Joenje, Hans, Waisfisz, Quinten, Morgan, Neil V, Savino, Maria, de Winter, Johan P, van Berkel, Carola G.M, Hoatlin, Maureen E, Ianzano, Leonarda, Gibson, Rachel A, Arwert, Fre, Savoia, Anna, Mathew, Christopher G, Pronk, Jan C
Published in Nature genetics (01.08.1999)
Published in Nature genetics (01.08.1999)
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Journal Article
High Frequency of Large Intragenic Deletions in the Fanconi Anemia Group A Gene
Morgan, Neil V., Tipping, Alex J., Joenje, Hans, Mathew, Christopher G.
Published in American journal of human genetics (01.11.1999)
Published in American journal of human genetics (01.11.1999)
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Journal Article
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
Morgan, N V, Bacchelli, C, Gissen, P, Morton, J, Ferrero, G B, Silengo, M, Labrune, P, Casteels, I, Hall, C, Cox, P, Kelly, D A, Trembath, R C, Scambler, P J, Maher, E R, Goodman, F R, Johnson, C A
Published in Journal of medical genetics (01.06.2003)
Published in Journal of medical genetics (01.06.2003)
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Journal Article
A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis
Walsh, D. M., Shah, S. H., Simpson, M. A., Morgan, N. V., Khaliq, S., Trembath, R. C., Mehdi, S. Q., Maher, E. R.
Published in Scientifica (Cairo) (01.01.2012)
Published in Scientifica (Cairo) (01.01.2012)
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Journal Article
CD3G Gene Defects in Familial Autoimmune Thyroiditis
Gokturk, B., Keles, S., Kirac, M., Artac, H., Tokgoz, H., Guner, S. N., Caliskan, U., Caliskaner, Z., Burg, M., Dongen, J., Morgan, N. V., Reisli, I.
Published in Scandinavian journal of immunology (01.11.2014)
Published in Scandinavian journal of immunology (01.11.2014)
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Journal Article
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene
Wijker, M, Morgan, N V, Herterich, S, van Berkel, C G, Tipping, A J, Gross, H J, Gille, J J, Pals, G, Savino, M, Altay, C, Mohan, S, Dokal, I, Cavenagh, J, Marsh, J, van Weel, M, Ortega, J J, Schuler, D, Samochatova, E, Karwacki, M, Bekassy, A N, Abecasis, M, Ebell, W, Kwee, M L, de Ravel, T, CG Mathew
Published in European journal of human genetics : EJHG (01.01.1999)
Published in European journal of human genetics : EJHG (01.01.1999)
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Journal Article
Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia
Trembath, Richard C, Thomson, Jennifer R, Machado, Rajiv D, Morgan, Neil V, Atkinson, Carl, Winship, Ingrid, Simonneau, Gerald, Galie, Nazzareno, Loyd, James E, Humbert, Marc, Nichols, William C, Berg, Jonathan, Manes, Alessandra, McGaughran, Julie, Pauciulo, Michael, Wheeler, Lisa, Morrell, Nicholas W
Published in The New England journal of medicine (02.08.2001)
Published in The New England journal of medicine (02.08.2001)
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Journal Article
HIF activation identifies early lesions in VHL kidneys: Evidence for site-specific tumor suppressor function in the nephron
Mandriota, Stefano J, Turner, Kevin J, Davies, David R, Murray, Paul G, Morgan, Neil V, Sowter, Heidi M, Wykoff, Charles C, Maher, Eamonn R, Harris, Adrian L, Ratcliffe, Peter J, Maxwell, Patrick H
Published in Cancer cell (01.06.2002)
Published in Cancer cell (01.06.2002)
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Journal Article
Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Stapelbroek, Janneke M, Morgan, Neil V, Johnson, Colin A, Lo, Bryan, Karet, Fiona E, McKiernan, Patrick J, Knisely, A S, Forshew, Tim, Morris, Andrew A M, Trembath, Richard C, Houwen, Roderick H J, Wraith, James E, Quarrell, Oliver W, Cooper, Wendy N, Maher, Eamonn R, Klomp, Leo W J, Thompson, Richard J, Wali, S, Gissen, Paul, Kelly, Deirdre A, McClean, Patricia, Di Rocco, Maja, Mandel, Hanna, Lynch, Sally A
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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Journal Article
Promoter mutation is a common variant in GJC2-associated Pelizaeus–Merzbacher-like disease
Meyer, E., Kurian, M.A., Morgan, N.V., McNeill, A., Pasha, S., Tee, L., Younis, R., Norman, A., van der Knaap, M.S., Wassmer, E., Trembath, R.C., Brueton, L., Maher, E.R.
Published in Molecular genetics and metabolism (01.12.2011)
Published in Molecular genetics and metabolism (01.12.2011)
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Journal Article
Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3
Jansen, Stander, Westerveld, Andries, Easton, Douglas F, Morgan, Neil V, Cohn, Richard J, de Ravel, Thomy J, Gibson, Rachel A, Joenje, Hans, Melchionda, Salvatore, Roberts, Irene, Pronk, Jan C, Arwert, Fré, Savoia, Anna, Mathew, Christopher G, Temtamy, Samia, Ford, Deborah, Wijker, Mario, Havenga, Charmaine, Ortega, Juan J
Published in Nature genetics (01.11.1995)
Published in Nature genetics (01.11.1995)
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Journal Article
The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p
Waisfisz, Quinten, Altay, Cigdem, Leegwater, Peter A., de Winter, Johan P., Komatsu, Kenshi, Evans, Gareth R., Wegner, Rolf-Dieter, Reis, André, Joenje, Hans, Arwert, Fré, Mathew, Christopher G., Pronk, Jan C., Saar, Kathrin, Morgan, Neil V., Digweed, Martin
Published in American journal of human genetics (01.05.1999)
Published in American journal of human genetics (01.05.1999)
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