Mosaicism in Autosomal Dominant Polycystic Kidney Disease Revealed by Genetic Testing to Enable Living Related Renal Transplantation
Connor, A., Lunt, P. W., Dolling, C., Patel, Y., Meredith, A. L., Gardner, A., Hamilton, N. K., Dudley, C. R. K.
Published in American journal of transplantation (01.01.2008)
Published in American journal of transplantation (01.01.2008)
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Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
Lunt, P W, Jardine, P E, Koch, M C, Maynard, J, Osborn, M, Williams, M, Harper, P S, Upadhyaya, M
Published in Human molecular genetics (01.05.1995)
Published in Human molecular genetics (01.05.1995)
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Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism
Kelly, Alison L, Lunt, Peter W, Rodrigues, Fernanda, Berry, P J, Flynn, Diana M, McKiernan, Patrick J, Kelly, Deirdre A, Mieli-Vergani, Giorgina, Cox, Timothy M
Published in Journal of medical genetics (01.09.2001)
Published in Journal of medical genetics (01.09.2001)
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22q11 deletion: a multisystem disorder requiring multidisciplinary input
Greenhalgh, K L, Aligianis, I A, Bromilow, G, Cox, H, Hill, C, Stait, Y, Leech, B J, Lunt, P W, Ellis, M
Published in Archives of disease in childhood (01.06.2003)
Published in Archives of disease in childhood (01.06.2003)
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Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD
Upadhyaya, M, Maynard, J, Rogers, M T, Lunt, P W, Jardine, P, Ravine, D, Harper, P S
Published in Journal of medical genetics (01.06.1997)
Published in Journal of medical genetics (01.06.1997)
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Genetic analysis of the G4.5 gene in families with suspected Barth syndrome
Cantlay, Ann M., Shokrollahi, Kayvan, Allen, John T., Lunt, Peter W., Newbury-Ecob, Ruth A., Steward, Colin G.
Published in The Journal of pediatrics (01.09.1999)
Published in The Journal of pediatrics (01.09.1999)
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The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12 : implications for genetic counseling
GUAY-WOODFORD, L. M, MUECHER, G, THOMSON, P. D, WALDO, F. B, LUNT, P. W, ZERRES, K, HOPKINS, S. D, AVNER, E. D, GERMINO, G. G, GUILLOT, A. P, HERRIN, J, HOLLEMAN, R, IRONS, D. A, PRIMACK, W
Published in American journal of human genetics (01.05.1995)
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Published in American journal of human genetics (01.05.1995)
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An unusually severe phenotype for familial adenomatous polyposis
Eccles, D M, Lunt, P W, Wallis, Y, Griffiths, M, Sandhu, B, McKay, S, Morton, D, Shea-Simonds, J, MacDonald, F
Published in Archives of disease in childhood (01.11.1997)
Published in Archives of disease in childhood (01.11.1997)
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Genotype-Phenotype Correlation for Nucleotide Substitutions in the IgII-IgIII Linker of FGFR2
Oldridge, Michael, Lunt, Peter W., Zackai, Elaine H., McDonald-McGinn, Donna M., Muenke, Maximilian, Moloney, Dominique M., Twigg, Stephen R. F., Heath, John K., Howard, Timothy D., Hoganson, George, Gagnon, Deborah M., Jabs, Ethylin Wang, Wilkie, Andrew O. M.
Published in Human molecular genetics (01.01.1997)
Published in Human molecular genetics (01.01.1997)
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DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease
Upadhyaya, M, Lunt, P W, Sarfarazi, M, Broadhead, W, Daniels, J, Owen, M, Harper, P S
Published in The Lancet (British edition) (24.11.1990)
Published in The Lancet (British edition) (24.11.1990)
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Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements
Upadhyaya, M, Jardine, P, Maynard, J, Farnham, J, Sarfarazi, M, Wijmenga, C, Hewitt, J E, Frants, R, Harper, P S, Lunt, P W
Published in Human molecular genetics (01.07.1993)
Published in Human molecular genetics (01.07.1993)
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Distal trisomy 2p and arachnodactyly
STALKER, D J, VIGNESWAREN, S, SHARPLES, P M, LUNT, P W
Published in Journal of medical genetics (01.12.2000)
Published in Journal of medical genetics (01.12.2000)
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Holoprosencephaly: a family showing dominant inheritance and variable expression
Collins, A L, Lunt, P W, Garrett, C, Dennis, N R
Published in Journal of medical genetics (01.01.1993)
Published in Journal of medical genetics (01.01.1993)
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Duplication 2 (q11.2-q21): a previously unreported abnormality
Cooke, L B, Richards, H, Lunt, P W, Burvill-Holmes, L, Howell, R T, McDermott, A
Published in Journal of medical genetics (01.10.1995)
Published in Journal of medical genetics (01.10.1995)
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De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1)
Jardine, P E, Koch, M C, Lunt, P W, Maynard, J, Bathke, K D, Harper, P S, Upadhyaya, M
Published in Archives of disease in childhood (01.09.1994)
Published in Archives of disease in childhood (01.09.1994)
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A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q
INGLEHEARN, CHRIS F, McHALE, JOHN C, KEEN, T JEFFERY, SKIRTON, HEATHER, LUNT, PETER W
Published in Journal of medical genetics (01.08.1999)
Published in Journal of medical genetics (01.08.1999)
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