Search Results - "Phelan, C M"

Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study by Phelan, C M, Iqbal, J, Lynch, H T, Lubinski, J, Gronwald, J, Moller, P, Ghadirian, P, Foulkes, W D, Armel, S, Eisen, A, Neuhausen, S L, Senter, L, Singer, C F, Ainsworth, P, Kim-Sing, C, Tung, N, Llacuachaqui, M, Chornokur, G, Ping, S, Narod, S A

“…Background: The BRCA1 and BRCA2 genes confer increased susceptibility to breast and ovarian cancer and to a spectrum of other cancers. There is controversy…”
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Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms by Wilson, H L, Wong, A C C, Shaw, S R, Tse, W-Y, Stapleton, G A, Phelan, M C, Hu, S, Marshall, J, McDermid, H E

“…Methods: The 22q13 deletion syndrome (MIM 606232) is characterised by moderate to profound mental retardation, delay/absence of expressive speech, hypotonia,…”
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Classification of BRCA1 missense variants of unknown clinical significance by Phelan, C M, Đapić, V, Tice, B, Favis, R, Kwan, E, Barany, F, Manoukian, S, Radice, P, van der Luijt, R B, van Nesselrooij, B P M, Chenevix-Trench, G, Caldes, T, de La Hoya, M, Lindquist, S, Tavtigian, S V, Goldgar, D, Borg, Å, Narod, S A, Monteiro, A N A

“…Background:BRCA1 is a tumour suppressor with pleiotropic actions. Germline mutations in BRCA1 are responsible for a large proportion of breast–ovarian cancer…”
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BRCA2 mutations in primary breast and ovarian cancers by Lancaster, Johnathan M, Wooster, Richard, Mangion, Jonathon, Phelan, Catherine M, Cochran, Charles, Gumbs, Curtis, Seal, Sheila, Barfoot, Rita, Collins, Nadine, Bignell, Graham, Patel, Sandeep, Hamoudi, Rifat, Larsson, Catharina, Wiseman, Roger W, Berchuck, Andrew, Iglehart, J. Dirk, Marks, Jeffrey R, Ashworth, Alan, Stratton, Michael R, Futreal, P. Andrew

“…The second hereditary breast cancer gene, BRCA2, was recently isolated. Germline mutations of this gene predispose carriers to breast cancer, and, to a lesser…”
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Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas by Ruttledge, Martin H, Sarrazin, Julie, Rangaratnam, Shyam, Phelan, Catherine M, Twist, Elspeth, Merel, Philippe, Delattre, Olivier, Thomas, Gilles, Nordenskjöld, Magnus, Collins, V. Peter, Dumanski, Jan P, Rouleau, Guy A

“…Meningiomas are common central nervous system tumours which present usually in the 4th and 5th decades of life. Loss of constitutional heterozygosity on…”
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Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease by Ruttledge, M H, Andermann, A A, Phelan, C M, Claudio, J O, Han, F Y, Chretien, N, Rangaratnam, S, MacCollin, M, Short, P, Parry, D, Michels, V, Riccardi, V M, Weksberg, R, Kitamura, K, Bradburn, J M, Hall, B D, Propping, P, Rouleau, G A

“…The gene predisposing to neurofibromatosis type 2 (NF2) on human chromosome 22 has revealed a wide variety of different mutations in NF2 individuals. These…”
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Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus by Phelan, Catherine M, Rebbeck, Timothy R, Weber, Barbara L, Devilee, Peter, Ruttledge, Martin H, Lynch, Henry T, Lenoir, Gilbert M, Stratton, Michael R, Easton, Douglas F, Ponder, Bruce A. J, Cannon-Albright, Lisa, Larsson, Catharina, Goldgar, David E, Narod, Steven A

“…Women who carry a mutation in the BRCA1 gene (on chromosome 17q21), have an 80% risk of breast cancer and a 40% risk of ovarian cancer by the age of 70 (ref…”
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Absence of constitutional H2AX gene mutations in 101 hereditary breast cancer families by Monteiro, A N A, Zhang, S, Phelan, C M, Narod, S A

“…Germline mutations in BRCA1 and BRCA2 increase sensitivity to DNA damage and decrease cellular capacity to repair double strand DNA breaks through homologous…”
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Consortium study on 1280 breast carcinomas : Allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters by PHELAN, C. M, BORG, A, KELSELL, D, HAMANN, U, RIO, P, THORLACIUS, S, PAPP, J, OLAH, E, PONDER, B, BIGNON, Y.-J, SCHERNECK, S, BARKARDOTTIR, R, CUNY, M, BORRESEN-DALE, A.-L, EYFJÖRD, J, THEILLET, C, THOMPSON, A. M, DEVILEE, P, LARSSON, C, CRICHTON, D. N, BALDERSSON, T, ANDERSEN, T. I, CALIGO, M. A, LIDEREAU, R, LINDBLOM, A, SEITZ, S

“…The pattern of loss of heterozygosity (LOH) on chromosome 17 in human breast cancer is complicated and shows many different regions of loss. In an attempt to…”
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Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome by MCCONKIE-ROSELL, A, LACHIEWICZ, A. M, SPIRIDIGLIOZZI, G. A, TARLETON, J, SCHOENWALD, S, PHELAN, M. C, PONMANI GOONEWARDENA, XIAOHUA DING, BROWN, W. T

“…DNA at the FMR-1 locus was analyzed by Southern blot using probe StB12.3 in an unusual fragile X family with six brothers, three of whom are affected with…”
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Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues by STEVENSON, R. E, LYONS JONES, K, PHELAN, M. C, JONES, M. C, BARR, M. JR, CLERICUZIO, C, HARLEY, R. A, BENIRSCHKE, K

“…Dissection of the abdominal vasculature in 11 cases of sirenomelia has demonstrated a pattern of vascular abnormalities that explains the defects usually found…”
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DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting by Glenn, Christopher C., Deng, Glenn, Michaelis, Ron C., Tarleton, Jack, Phelan, Mary C., Surh, Linda, Yang, Thomas P., Driscoll, Daniel J.

“…The Angelman (AS) and Prader–Willi syndromes (PWS) are clinically distinct neurobehavioural syndromes resulting from loss of maternal (AS) or paternal…”
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A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency by WILLI, S. M, ZHANG, Y, HILL, J. B, PHELAN, M. C, MICHAELIS, R. C, HOLDEN, K. R

“…The dipeptides carnosine and anserine, found exclusively in meats, are hydrolyzed in serum by the enzyme carnosinase. Several reports of serum carnosinase…”
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Vascular anastomoses leading to amelia and cutis aplasia in a dizygotic twin pregnancy by Phelan, Mary C, Geer, Joseph S, Blackburn, Will R

“…Dichorionic placentation is observed in both monozygotic (MZ) and dizygotic (DZ) twinning, while monochorionic placentation is unique to MZ twinning…”
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The Human Mammary-Derived Growth Inhibitor (MDGI) Gene: Genomic Structure and Mutation Analysis in Human Breast Tumors by Phelan, Catherine M., Larsson, Catharina, Baird, Stephen, Futreal, P.Andrew, Ruttledge, M.H., Morgan, Kenneth, Tonin, Patricia, Hung, Huynh, Korneluk, Robert G., Pollak, Michael N., Narod, Steven A.

“…The mammary-derived growth inhibitor (MDGI) gene is a candidate tumor suppressor gene for human breast cancer. It has been shown to reduce the tumorigenicity…”
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Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome by SCHWARTZ, C. E, JOHNSON, J. P, FLANNERY, D. B, STEVENSON, R. E, HOLYCROSS, B, MANDEVILLE, T. M, SEARS, T. S, GRAUL, E. A, CAREY, J. C, SCHROER, R. J, PHELAN, M. C, SZOLLAR, J

“…The Miller-Dieker syndrome (MDS), a syndrome with lissencephaly, distinctive craniofacial features, growth impairment, and profound developmental failure, has…”
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Chromosome 17 abnormalities and lack of TP53 mutations in paediatric central nervous system tumours by PHELAN, C. M, LU LIU, RUTTLEDGE, M. H, MÜNTZNING, K, RIDDERHEIM, P.-A, COLLINS, V. P

“…Central nervous system (CNS) tumours are the most common solid tumours in children. Cytogenetic and molecular genetic studies of these neoplasms have…”
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Beclomethasone mania by Phelan, M C

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Vascular basis for neural tube defects: a hypothesis by STEVENSON, R. E, KELLY, J. C, AYLSWORTH, A. S, PHELAN, M. C

“…A hypothesis is set forth that neural tube defects are produced by inadequate nutrient supply to the rapidly growing neural folds. According to this…”
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Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families by Phelan, Catherine M, Lancaster, Johnathan M, Tonin, Patricia, Gumbs, Curtis, Cochran, Charles, Carter, Ron, Ghadirian, Parviz, Perret, Chantal, Moslehi, Roxana, Dion, France, Faucher, Marie-Claude, Dole, Kiran, Karimi, Sepideh, Foulkes, Willliam, Lounis, Hafida, Warner, Ellen, Goss, Paul, Anderson, David, Larsson, Catharina, Narod, Steven A, Futreal, P. Andrew

“…The hereditary breast cancer gene BRCA2 was recently cloned and is believed to account for almost half of site-specific breast cancer families and the majority…”
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