Search Results - "Bunstone, Sancha"

The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study by Ryan, Neil A. J., McMahon, Raymond, Tobi, Simon, Snowsill, Tristan, Esquibel, Shona, Wallace, Andrew J., Bunstone, Sancha, Bowers, Naomi, Mosneag, Ioana E., Kitson, Sarah J., O’Flynn, Helena, Ramchander, Neal C., Sivalingam, Vanitha N., Frayling, Ian M., Bolton, James, McVey, Rhona J., Evans, D. Gareth, Crosbie, Emma J.

“…Selecting test populations by age and/or family history, failure to apply reference standard tests consistently, and poor conversion to definitive testing are…”
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Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2 -related schwannomatosis by Smith, Miriam J, Perez-Becerril, Cristina, van der Meer, Mwee, Burghel, George J, Waller, Sarah J, Carney, Megan, Bunstone, Sancha, Fryer, Katherine, Bowers, Naomi L, Hartley, Claire L, Smith, Philip T, Rutherford, Scott A, Freeman, Simon R, Lloyd, Simon K W, Pathmanaban, Omar N, King, Andrew Thomas, Halliday, Dorothy, Duff, Chris, Evans, D Gareth

“…Most schwannomas are isolated tumours occurring in otherwise healthy people. However, bilateral vestibular schwannomas (BVS) or multiple non-vestibular…”
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Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort by Gerrish, Amy, Mashayamombe-Wolfgarten, Chipo, Stone, Edward, Román-Montañana, Claudia, Abbott, Joseph, Jenkinson, Helen, Millen, Gerard, Gurney, Sam, McCalla, Maureen, Staveley, Sarah-Jane, Kainth, Anu, Kirk, Maria, Bowen, Claire, Cavanagh, Susan, Bunstone, Sancha, Carney, Megan, Mohite, Ajay, Clokie, Samuel, Reddy, M Ashwin, Foster, Alison, Allen, Stephanie, Parulekar, Manoj, Cole, Trevor

“…The identification of somatic variation is crucial to confirm the heritability of retinoblastoma. We and others have previously shown that, when tumour DNA is…”
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum by BANKA, Siddharth, VEERAMACHANENI, Ratna, METCALFE, Kay, CHANDLER, Kate, MAGEE, Alex, STEWART, Fiona, MCCONNELL, Vivienne Pm, DONNELLY, Deirdre E, BERLAND, Siren, HOUGE, Gunnar, MORTON, Jenny E, OLEY, Christine, REARDON, William, REVENCU, Nicole, PARK, Soo-Mi, DAVIES, Sally J, FRY, Andrew E, ANN LYNCH, Sally, GILL, Harinder, SCHWEIGER, Susann, LAM, Wayne Wk, TOLMIE, John, MOHAMMED, Shehla N, HOWARD, Emma, HOBSON, Emma, SMITH, Audrey, BLYTH, Moira, BENNETT, Christopher, VASUDEVAN, Pradeep C, GARCIA-MINAUR, Sixto, HENDERSON, Alex, GOODSHIP, Judith, WRIGHT, Michael J, FISHER, Richard, BUNSTONE, Sancha, GIBBONS, Richard, PRICE, Susan M, DE SILVA, Deepthi C, KAREN TEMPLE, I, COLLINS, Amanda L, LACHLAN, Katherine, ELMSLIE, Frances, MCENTAGART, Meriel, CASTLE, Bruce, CLAYTON-SMITH, Jill, RAGGE, Nicola, BLACK, Graeme C, DONNAI, Dian, PARKER, Michael J, CROW, Yanick J, KERR, Bronwyn, KINGSTON, Helen

“…MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to 45% patients with KS, the genetic basis remains unknown, suggesting…”
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