Search Results - "Murday, VA"

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 by Brice, G, Mansour, S, Bell, R, Collin, J R O, Child, A H, Brady, A F, Sarfarazi, M, Burnand, K G, Jeffery, S, Mortimer, P, Murday, V A

“…Introduction: Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative…”
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PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome by Marsh, Debbie J., Kum, Jennifer B., Lunetta, Kathryn L., Bennett, Michael J., Gorlin, Robert J., Ahmed, S. Faisal, Bodurtha, Joann, Crowe, Carol, Curtis, Mary A., Dasouki, Majed, Dunn, Teresa, Feit, Howard, Geraghty, Michael T., Graham, John M., Hodgson, Shirley V., Hunter, Alasdair, Korf, Bruce R., Manchester, David, Miesfeldt, Susan, Murday, Victoria A., Nathanson, Katherine L., Parisi, Melissa, Pober, Barbara, Romano, Corrado, Tolmie, John L., Trembath, Richard, Winter, Robin M., Zackai, Elaine H., Zori, Roberto T., Weng, Liang-Ping, Dahia, Patricia L. M., Eng, Charis

“…Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS)…”
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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2 by Jeffery, Steve, Afzal, Ali R, Rajab, Anna, Fenske, Christiane D, Oldridge, Michael, Elanko, Navaratnam, Ternes-Pereira, Eliana, Tüysüz, Beyhan, Murday, Victoria A, Patton, Michael A, Wilkie, Andrew O.M

“…The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone shortening, segmental defects of…”
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Localization of the gene for Cowden disease to chromosome 10q22-23 by Nelen, M.R, Padberg, G.W, Peeters, E.A.J, Lin, A.Y, Helm, B. van den, Frants, R.R, Goulon, V, Goldstein, A.M, Reen, M.M.M van, Eastern, D.F, Eeles, R.A, Hodgson, S, Mulvihill, J.J, Murday, V.A, Tucker, M.A, Mariman, E.C.M, Starink, T.M, Ponder, B.A.J, Ropers, H.H, Kremer, H, Longy, M, Eng, C

“…Cowden disease (CD) (MIM 158350), or multiple hamartoma syndrome, is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. Its…”
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An Ancestral Ashkenazi Haplotype at the HMPS/CRAC1 Locus on 15q13–q14 Is Associated with Hereditary Mixed Polyposis Syndrome by Jaeger, E.E.M., Woodford-Richens, K.L., Lockett, M., Rowan, A.J., Sawyer, E.J., Heinimann, K., Rozen, P., Murday, V.A., Whitelaw, S.C., Ginsberg, A., Atkin, W.S., Lynch, H.T., Southey, M.C., Debinski, H., Eng, C., Bodmer, W.F., Talbot, I.C., Hodgson, S.V., Thomas, H.J.W., Tomlinson, I.P.M.

“…The putative locus for hereditary mixed polyposis syndrome (HMPS) in a large family of Ashkenazi descent (SM96) was previously reported to map to chromosome…”
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Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (naxos disease) maps to 17q21 by COONAR, A. S, PROTONOTARIOS, N, TSATSOPOULOU, A, NEEDHAM, E. W. A, HOULSTON, R. S, CLIFF, S, OTTER, M. I, MURDAY, V. A, MATTU, R. K, MCKENNA, W. J

“…Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease of unknown etiology that causes arrhythmias, heart failure, and sudden death…”
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Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene by BELL, R, BRICE, G, MORTIMER, P, JEFFERY, S, CHILD, A. H, MURDAY, V. A, MANSOUR, S, SANDY, C. J, COLLIN, J. R. O, BRADY, A. F, CALLEN, D. F, BURNAND, K

“…Lymphoedema-distichiasis (LD) is a dominantly inherited form of primary lymphoedema with onset of lower limb swelling at puberty or later. There is variable…”
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Germline PTEN mutations in Cowden syndrome-like families by Marsh, D J, Dahia, P L, Caron, S, Kum, J B, Frayling, I M, Tomlinson, I P, Hughes, K S, Eeles, R A, Hodgson, S V, Murday, V A, Houlston, R, Eng, C

“…Cowden syndrome (CS) or multiple hamartoma syndrome (MIM 158350) is an autosomal dominant disorder with an increased risk for breast and thyroid carcinoma. The…”
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AN EVALUATION OF GENETIC-HETEROGENEITY IN 145 BREAST-CANCER OVARIAN-CANCER FAMILIES by NAROD, SA, FORD, D, DEVILEE, P, BARKARDOTTIR, RB, LYNCH, HT, SMITH, SA, PONDER, BAJ, WEBER, BL, GARBER, JE, BIRCH, JM

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Clinical and molecular features of the hereditary mixed polyposis syndrome by Whitelaw, SC, Murday, VA, Tomlinson, IP, Thomas, HJ, Cottrell, S, Ginsberg, A, Bukofzer, S, Hodgson, SV, Skudowitz, RB, Jass, JR, Talbot, IC, Northover, JM, Bodmer, WF, Solomon, E

“…BACKGROUND & AIMS: Various inherited syndromes predispose to the development of colonic juvenile polyps and colorectal cancer, with potential importance for…”
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A Gene for Lymphedema-Distichiasis Maps to 16q24.3 by Mangion, J., Rahman, N., Mansour, S., Brice, G., Rosbotham, J., Child, A.H., Murday, V.A., Mortimer, P.S., Barfoot, R., Sigurdsson, A., Edkins, S., Sarfarazi, M., Burnand, K., Evans, A.L., Nunan, T.O., Stratton, M.R., Jeffery, S.

“…Lymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at or just after puberty. Most affected individuals have…”
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Colonoscopy in asymptomatic individuals with a family history of colorectal cancer by Syrigos, K N, Charalampopoulos, A, Ho, J L, Zbar, A, Murday, V A, Leicester, R J

“…This study was performed to evaluate the use of total colonoscopy as the optimal screening test in asymptomatic individuals with a family history of colorectal…”
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Localization of the gene for familial adenomatous polyposis on chromosome 5 by Bodmer, W. F, Bailey, C. J, Bodmer, J, Bussey, H. J. R, Ellis, A, Gorman, P, Lucibello, F. C, Murday, V. A, Rider, S. H, Scambler, P, Sheer, D, Solomon, E, Spurr, N. K

“…Colorectal cancer is the second most common cancer in the United Kingdom and other developed countries in the West. Although it is usually not familial, there…”
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Genetic Predisposition to Cancer: The Consequences of a Delayed Diagnosis of Gorlin Syndrome by Mitchell, G., Farndon, P.A., Brayden, P., Murday, V.A., Eeles, R.A.

“…This report outlines a case of Gorlin syndrome, the diagnosis of which was delayed for many years, and raises a number of important issues. These are the…”
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Lack of c-kit mutation in familial urticaria pigmentosa by Rosbotham, J L, Malik, N M, Syrris, P, Jeffery, S, Bedlow, A, Gharraie, S, Murday, V A, Holden, C A, Carter, N D

“…Somatic mutations within c‐kit have been reported in individuals with mastocytoses, including urticaria pigmentosa (UP). We have identified three siblings with…”
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Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22 by AFZAL, A. R, RAJAB, A, FENSKE, C, CROSBY, A, LAHIRI, N, TERNES-PEREIRA, E, MURDAY, V. A, HOULSTON, R, PATTON, M. A, JEFFERY, S

“…Autosomal recessive Robinow syndrome is a form of mesomelic dwarfism with multiple rib and vertebral anomalies. Using autozygosity mapping we have identified a…”
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Frequency of familial colorectal cancer by Stephenson, B M, Finan, P J, Gascoyne, J, Garbett, F, Murday, V A, Bishop, D T

“…Familial clustering of cancer is not uncommon. The frequency of familial colorectal cancer was estimated by taking family histories from 100 patients…”
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Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome by Hall, N R, Murday, V A, Chapman, P, Williams, M A, Burn, J, Finan, P J, Bishop, D T

“…The Muir-Torre syndrome, in which sebaceous gland tumours occur in association with internal malignancy, is inherited as an autosomal dominant disorder. Many…”
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Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb by BELL, R, BRICE, G, CHILD, A H, MURDAY, V A, MANSOUR, S, SANDY, C J, COLLIN, J R O, MORTIMER, P, CALLEN, D F, BURNAND, K, JEFFERY, S

“…E ditor -Primary lymphoedema (MIM 153200) is a chronic tissue swelling, most frequently of the lower limbs, which occurs as a consequence of a failure of lymph…”
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Colonoscopy in symptomatic patients with positive family history of colorectal cancer by Charalambopoulos, A, Syrigos, K N, Ho, J L, Murday, V A, Leicester, R J

“…Most patients with colorectal cancer (CRC) develop clinical signs and symptoms which are not specific for CRC, and usually at a late stage of the disease,…”
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