Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study von 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

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Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms von 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

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Classification of BRCA1 missense variants of unknown clinical significance von 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

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BRCA2 mutations in primary breast and ovarian cancers von 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

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Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas von 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

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Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease von 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

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Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus von 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

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Consortium study on 1280 breast carcinomas : Allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters von 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

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Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome von MCCONKIE-ROSELL, A, LACHIEWICZ, A. M, SPIRIDIGLIOZZI, G. A, TARLETON, J, SCHOENWALD, S, PHELAN, M. C, PONMANI GOONEWARDENA, XIAOHUA DING, BROWN, W. T

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Absence of constitutional H2AX gene mutations in 101 hereditary breast cancer families von Monteiro, A N A, Zhang, S, Phelan, C M, Narod, S A

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Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues von STEVENSON, R. E, LYONS JONES, K, PHELAN, M. C, JONES, M. C, BARR, M. JR, CLERICUZIO, C, HARLEY, R. A, BENIRSCHKE, K

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Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families von 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

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DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting von Glenn, Christopher C., Deng, Glenn, Michaelis, Ron C., Tarleton, Jack, Phelan, Mary C., Surh, Linda, Yang, Thomas P., Driscoll, Daniel J.

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A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency von WILLI, S. M, ZHANG, Y, HILL, J. B, PHELAN, M. C, MICHAELIS, R. C, HOLDEN, K. R

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22q13 deletion syndrome von Phelan, Mary C., Rogers, R. Curtis, Saul, Robert A., Stapleton, Gail A., Sweet, Kevin, McDermid, Heather, Shaw, Steven R., Claytor, Joanne, Willis, Jan, Kelly, Desmond P.

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Vascular anastomoses leading to amelia and cutis aplasia in a dizygotic twin pregnancy von Phelan, Mary C, Geer, Joseph S, Blackburn, Will R

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The Human Mammary-Derived Growth Inhibitor (MDGI) Gene: Genomic Structure and Mutation Analysis in Human Breast Tumors von 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.

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Chromosome 17 abnormalities and lack of TP53 mutations in paediatric central nervous system tumours von PHELAN, C. M, LU LIU, RUTTLEDGE, M. H, MÜNTZNING, K, RIDDERHEIM, P.-A, COLLINS, V. P

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Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome von 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

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Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities von Schröck, E, Veldman, T, Padilla-Nash, H, Ning, Y, Spurbeck, J, Jalal, S, Shaffer, L G, Papenhausen, P, Kozma, C, Phelan, M C, Kjeldsen, E, Schonberg, S A, O'Brien, P, Biesecker, L, du Manoir, S, Ried, T

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