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Spinal ependymomas in NF2: a surgical disease? [electronic resource] by
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- Sterkers, O
- Bernardeschi, D
- Peyre, M
- Lloyd, S K
- Freeman, S
- Hammerbeck-Ward, C
- Kellett, M
- Rutherford, S A
- Evans, D G
- Pathmanaban, O
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Management of the patient and family with neurofibromatosis 2: a consensus conference statement. [electronic resource] by
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- Saeed, S
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- Kerr, R
- Thomas, N
- Irving, R
- MacFarlane, R
- Ferner, R
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British journal of neurosurgery vol. 19
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A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening. [electronic resource] by
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Prevention of breast cancer in the context of a national breast screening programme. [electronic resource] by
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- Warren, R
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Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family. [electronic resource] by
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- Birch, J M
- Evans, D G
- Reddel, R
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Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. [electronic resource] by
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- Belfiore, G
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- Romano, A
- Chiarenza, A
- Muglia, M
- Polizzi, A
- Evans, D G
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Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. [electronic resource] by
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- Rose, S
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- Eccles, D
- Morrison, P J
- Scott, J
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Journal of medical genetics vol. 45
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The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families. [electronic resource] by
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- Henrique, R
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- Baptista, M
- Marinho, C
- Mangold, E
- Vaccaro, C
- Evans, D G
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Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2. [electronic resource] by
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- Dore, J
- Madan, K
- Brown, A
- Yovos, J G
- Tsaligopoulos, M
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Journal of medical genetics vol. 41
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450.
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The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. [electronic resource] by
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- Ramsden, R T
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- Kalamarides, M
- Papi, L
- Kato, R
- Carroll, J
- Lázaro, C
- Joncourt, F
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Cancer genetics service provision: a comparison of seven European centres. [electronic resource] by
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- Evers-Kiebooms, G
- Gangeri, L
- Hagoel, L
- Legius, E
- Nippert, I
- Rennert, G
- Schlegelberger, B
- Sevilla, C
- Sobol, H
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Community genetics vol. 6
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Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). [electronic resource] by
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- Easton, D F
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- Evans, D G R
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- Hoff, R J C
- Kessar, P
- Lakhani, S R
- Moss, S M
- Nerurkar, A
- Padhani, A R
- Pointon, L J
- Thompson, D
- Warren, R M L
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In:
Lancet (London, England) vol. 365
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Risk reducing mastectomy: outcomes in 10 European centres. [electronic resource] by
- Evans, D G R
- Baildam, A D
- Anderson, E
- Brain, A
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- Vasen, H F A
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- Lucassen, A
- Pichert, G
- Hamed, H
- Moller, P
- Maehle, L
- Morrison, P J
- Stoppat-Lyonnet, D
- Gregory, H
- Smyth, E
- Niederacher, D
- Nestle-Krämling, C
- Campbell, J
- Hopwood, P
- Lalloo, F
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454.
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Creation of an international registry to support discovery in schwannomatosis. [electronic resource] by
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- Bergner, A L
- Blakeley, J
- Evans, D G
- Ferner, R
- Friedman, J M
- Harris, G J
- Jordan, J T
- Korf, B
- Langmead, S
- Leschziner, G
- Mautner, V
- Merker, V L
- Papi, L
- Plotkin, S R
- Slopis, J M
- Smith, M J
- Stemmer-Rachamimov, A
- Yohay, K
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American journal of medical genetics. Part A vol. 173
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455.
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Cost-effectiveness of screening with contrast enhanced magnetic resonance imaging vs X-ray mammography of women at a high familial risk of breast cancer. [electronic resource] by
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- Brown, J
- Boggis, C
- Dixon, A
- Dixon, M
- Easton, D
- Eeles, R
- Evans, D G
- Gilbert, F J
- Hawnaur, J
- Kessar, P
- Lakhani, S R
- Moss, S M
- Nerurkar, A
- Padhani, A R
- Pointon, L J
- Potterton, J
- Thompson, D
- Turnbull, L W
- Walker, L G
- Warren, R
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In:
British journal of cancer vol. 95
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Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. [electronic resource] by
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- Dolwani, S
- Jones, N
- Jones, S
- Colley, J
- Maynard, J
- Idziaszczyk, S
- Humphreys, V
- Arnold, J
- Donaldson, A
- Eccles, D
- Ellis, A
- Evans, D G
- Frayling, I M
- Hes, F J
- Houlston, R S
- Maher, E R
- Nielsen, M
- Parry, S
- Tyler, E
- Moskvina, V
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Gut vol. 57
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Protocol for a national multi-centre study of magnetic resonance imaging screening in women at genetic risk of breast cancer. [electronic resource] by
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- Dixon, J M
- Easton, D F
- Eeles, R A
- Evans, D G
- Gilbert, F G
- Hayes, C
- Jenkins, J P
- Leach, M O
- Moss, S M
- Padhani, A P
- Pointon, L J
- Ponder, B A
- Sloane, J P
- Turnbull, L W
- Walker, L G
- Warren, R M
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In:
Breast (Edinburgh, Scotland) vol. 9
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458.
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An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. [electronic resource] by
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- Huson, S M
- Davies, M
- Thomas, N
- Chuzhanova, N
- Giovannini, S
- Evans, D G
- Howard, E
- Kerr, B
- Griffiths, S
- Consoli, C
- Side, L
- Adams, D
- Pierpont, M
- Hachen, R
- Barnicoat, A
- Li, H
- Wallace, P
- Van Biervliet, J P
- Stevenson, D
- Viskochil, D
- Baralle, D
- Haan, E
- Riccardi, V
- Turnpenny, P
- Lazaro, C
- Messiaen, L
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In:
American journal of human genetics vol. 80
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459.
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Rationale for a national multi-centre study of magnetic resonance imaging screening in women at genetic risk of breast cancer. [electronic resource] by
- Brown, J
- Coulthard, A
- Dixon, A K
- Dixon, J M
- Easton, D F
- Eeles, R A
- Evans, D G
- Gilbert, F G
- Hayes, C
- Jenkins, J P
- Leach, M O
- Moss, S M
- Padhani, A P
- Pointon, L J
- Ponder, B A
- Sloane, J P
- Turnbull, L W
- Walker, L G
- Warren, R M
- Watson, W
Producer: 20040123
In:
Breast (Edinburgh, Scotland) vol. 9
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460.
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Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. [electronic resource] by
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- Rapley, E
- Biggs, P J
- Lakhani, S R
- Cooke, D
- Hansen, J
- Blair, E
- Hofmann, B
- Siebert, R
- Turner, G
- Evans, D G
- Schrander-Stumpel, C
- Beemer, F A
- van Vloten, W A
- Breuning, M H
- van den Ouweland, A
- Halley, D
- Delpech, B
- Cleveland, M
- Leigh, I
- Chapman, P
- Burn, J
- Hohl, D
- Görög, J P
- Seal, S
- Mangion, J
Producer: 20000922
In:
Human genetics vol. 106
Availability: No items available.
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