BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance von Eccles, D.M., Mitchell, G., Monteiro, A.N.A., Schmutzler, R., Couch, F.J., Spurdle, A.B., Gómez-García, E.B., Driessen, R., Lindor, N.M., Blok, M.J., Moller, P., de la Hoya, M., Pal, T., Domchek, S., Nathanson, K., Van Asperen, C., Diez, O., Rheim, K., Stoppa-Lyonnet, D., Parsons, M., Goldgar, D.

Volltext

MOTOR TICS, STEREOTYPIES, AND SELF-FLAGELLATION IN PRIMROSE SYNDROME von Dalal, P., Leslie, N.D., Lindor, N.M., Gilbert, D.L., Espay, A.J.

Volltext

Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing von Scherr, C.L., Lindor, N.M., Malo, T.L., Couch, F.J., Vadaparampil, S.T.

Volltext

Motor tics, stereotypies, and self-flagellation in primrose syndrome von Dalal, P, Leslie, N D, Lindor, N M, Gilbert, D L, Espay, A J

Volltext

Appreciating the broad clinical features of SMAD4 mutation carriers: a multi-center chart review von Wain, K.E., Ellingson, M.S., McDonald, J., Gammon, A., Roberts, M., Pichurin, P., Winship, I., Riegert-Johnson, D., Weitzel, J. N., Lindor, N.M.

Volltext

Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly von Merritt, J.L., Lindor, N.M.

Volltext

Desmoid tumors in familial adenomatous polyposis: a pilot project evaluating efficacy of treatment with pirfenidone von Lindor, N.M, Dozois, R, Nelson, H, Wolff, B, King, J, Boardman, L, Wilson, M, Greene, M.H, Karnes, W, Mesa, R, Welch, T, Edmonson, J, Limburg, P

Volltext

Familial trigeminal neuralgia and contralateral hemifacial spasm von DUFF, J. M, SPINNER, R. J, LINDOR, N. M, DODICK, D. W, ATKINSON, J. L. D

Volltext

Progressive extensive osteoma cutis associated with dysmorphic features: a new syndrome? Case report and review of the literature von Davis, M.D.P., Pittelkow, M.R., Lindor, N.M., Lundstrom, C.E., Fitzpatrick, L.A.

Volltext

Associations of height with the risks of colorectal and endometrial cancer in persons with Lynch syndrome von Brouwer, J.G.M., Newcomb, P.A., Bisseling, T.M., Figueiredo, J.C., Hopper, J.L., Jenkins, M.A., Koornstra, J.J., Lindor, N.M., Vasen, H.F.A., Win, A.K., Kampman, E., Duijnhoven, F.J.B. van

Volltext bestellen

Contribution of mRNA splicing to mismatch repair gene sequence variant interpretation von Thompson, B.A., Walters, R., Parsons, M.T., Dumenil, T., Drost, M., Tiersma, Y., Lindor, N.M., Tavtigian, S.V., Wind, N. de, Spurdle, A.B.

Volltext bestellen

No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: a prospective Lynch syndrome database study von Dominguez-Valentin, M., Plazzer, J.P., Sampson, J.R., Engel, C., Aretz, S., Jenkins, M.A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I.M., Thomas, H., Evans, D.G., Burn, J., Greenblatt, M., Cappel, W.H.D.T.N., Sijmons, R.H., Nielsen, M., Bertario, L., Bonanni, B., Tibiletti, M.G., Cavestro, G.M., Lindblom, A., Valle, A. della, Lopez-Kostner, F., Alvarez, K., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C.A., Nakken, S., Hovig, E., Green, K., Lalloo, F., Hill, J., Vasen, H.F.A., Perne, C., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Doeberitz, M.V., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., Schmiegel, W., Vangala, D., Crosbie, E.J., Pineda, M., Navarro, M., Brunet, J., Moreira, L., Sanchez, A., Serra-Burriel, M., Mints, M., Kariv, R., Rosner, G., Pinero, T.A., Pavicic, W.H., Kalfayan, P., Broeke, S.W. ten, Mecklin, J.P., Pylvanainen, K., Renkonen-Sinisalo, L., Lepisto, A., Peltomaki, P., Hopper, J.L., Win, A.K., Buchanan, D.D., Lindor, N.M., Gallinger, S., Marchand, L. le, Newcomb, P.A., Figueiredo, J.C., Thibodeau, S.N., Therkildsen, C., Hansen, T.V.O., Lindberg, L., Rodland, E.A., Neffa, F., Esperon, P., Tjandra, D., Moslein, G., Seppala, T.T., Moller, P.

Volltext bestellen

Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report von Seppala, T.T., Dominguez-Valentin, M., Crosbie, E.J., Engel, C., Aretz, S., Macrae, F., Winship, I., Capella, G., Thomas, H., Hovig, E., Nielsen, M., Sijmons, R.H., Bertario, L., Bonanni, B., Tibiletti, M.G., Cavestro, G.M., Mints, M., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C.A., Green, K., Lalloo, F., Hill, J., Schmiegel, W., Vangala, D., Perne, C., Strauss, H.G., Tecklenburg, J., Holinski-Feder, E., Steinke-Lange, V., Mecklin, J.P., Plazzer, J.P., Pineda, M., Navarro, M., Vida, J.B., Kariv, R., Rosner, G., Pinero, T.A., Pavicic, W., Kalfayan, P., Broeke, S.W. ten, Jenkins, M.A., Sunde, L., Bernstein, I., Burn, J., Greenblatt, M., Cappel, W.H.D.T.N., Valle, A. della, Lopez-Koestner, F., Alvarez, K., Buttner, R., Gorgens, H., Morak, M., Holzapfel, S., Huneburg, R., Doeberitz, M.V., Loeffler, M., Redler, S., Weitz, J., Pylvanainen, K., Renkonen-Sinisalo, L., Lepisto, A., Hopper, J.L., Win, A.K., Lindor, N.M., Gallinger, S., Marchand, L.L., Newcomb, P.A., Figueiredo, J.C., Thibodeau, S.N., Therkildsen, C., Wadt, K.A.W., Mourits, M.J.E., Ketabi, Z., Denton, O.G., Rodland, E.A., Vasen, H., Neffa, F., Esperon, P., Tjandra, D., Moslein, G., Rokkones, E., Sampson, J.R., Evans, D.G., Moller, P.

Volltext bestellen

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report von Dominguez-Valentin, M., Crosbie, E.J., Engel, C., Aretz, S., Macrae, F., Winship, I., Capella, G., Thomas, H., Nakken, S., Hovig, E., Nielsen, M., Sijmons, R.H., Bertario, L., Bonanni, B., Tibiletti, M.G., Cavestro, G.M., Mints, M., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C.A., Green, K., Lalloo, F., Hill, J., Schmiegel, W., Vangala, D., Perne, C., Strauss, H.G., Tecklenburg, J., Holinski-Feder, E., Steinke-Lange, V., Mecklin, J.P., Plazzer, J.P., Pineda, M., Navarro, M., Vidal, J.B., Kariv, R., Rosner, G., Pinero, T.A., Gonzalez, M.L., Kalfayan, P., Ryan, N., Broeke, S.W. ten, Jenkins, M.A., Sunde, L., Bernstein, I., Burn, J., Greenblatt, M., Cappel, W.H.D.T.N., Valle, A. della, Lopez-Koestner, F., Alvarez, K., Buttner, R., Gorgens, H., Morak, M., Holzapfel, S., Huneburg, R., Doeberitz, M.V., Loeffler, M., Rahner, N., Weitz, J., Pylvanainen, K., Renkonen-Sinisalo, L., Lepisto, A., Auranen, A., Hopper, J.L., Win, A.K., Haile, R.W., Lindor, N.M., Gallinger, S., Marchand, L. le, Newcomb, P.A., Figueiredo, J.C., Thibodeau, S.N., Therkildsen, C., Okkels, H., Ketabi, Z., Denton, O.G., Rodland, E.A., Vasen, H., Neffa, F., Esperon, P., Tjandra, D., Moslein, G., Sampson, J.R., Evans, D.G., Seppala, T.T., Moller, P.

Volltext bestellen

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database von Dominguez-Valentin, M., Sampson, J.R., Seppala, T.T., Broeke, S.W. ten, Plazzer, J.P., Nakken, S., Engel, C., Aretz, S., Jenkins, M.A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D.G., Burn, J., Greenblatt, M., Hovig, E., Cappel, W.H.D.T.N.C., Sijmons, R.H., Bertario, L., Tibiletti, M.G., Cavestro, G.M., Lindblom, A., Valle, A. della, Lopez-Kostner, F., Gluck, N., Katz, L.H., Heinimann, K., Vaccaro, C.A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Doeberitz, M.V., Loeffler, M., Rahner, N., Schackert, H.K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J.L., Win, A.K., Haile, R.W., Lindor, N.M., Gallinger, S., Marchand, L. le, Newcomb, P.A., Figueiredo, J.C., Thibodeau, S.N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E.J., Hill, J., Denton, O.G., Frayling, I.M., Rodland, E.A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T.A., Gonzalez, M.L., Kalfayan, P., Tjandra, D., Winship, I.M., Macrae, F., Moslein, G., Mecklin, J.P., Nielsen, M., Moller, P.

Volltext bestellen

Resolution of neonatal hypertrophic cardiomyopathy in an infant with an affected mother von Eidem, B W, Lindor, N M, Driscoll, D J

Volltext

Cancer Risks for PMS2-Associated Lynch Syndrome von Broeke, S.W. ten, Klift, H.M. van der, Tops, C.M.J., Aretz, S., Bernstein, I., Buchanan, D.D., Chapelle, A. de la, Capella, G., Clendenning, M., Engel, C., Gallinger, S., Gomez Garcia, E., Figueiredo, J.C., Haile, R., Hampel, H.L., Hopper, J.L., Hoogerbrugge, N., Doeberitz, M.V., Marchand, L. le, Letteboer, T.G.W., Jenkins, M.A., Lindblom, A., Lindor, N.M., Mensenkamp, A.R., Moller, P., Newcomb, P.A., Os, T.A.M. van, Pearlman, R., Pineda, M., Rahner, N., Redeker, E.J.W., Olderode-Berends, M.J.W., Rosty, C., Schackert, H.K., Scott, R., Senter, L., Spruijt, L., Steinke-Lange, V., Suerink, M., Thibodeau, S., Vos, Y.J., Wagner, A., Winship, I., Hes, F.J., Vasen, H.F.A., Wijnen, J.T., Nielsen, M., Win, A.K.

Volltext bestellen

Supplementary Material for: Public Perceptions of Disease Severity but Not Actionability Correlate with Interest in Receiving Genomic Results: Nonalignment with Current Trends in P... von Graves, K.D., Sinicrope, P.S., McCormick, J.B., Zhou, Y., Vadaparampil, S.T., Lindor, N.M.

Volltext bestellen

Supplementary Material for: Developing a Process for Returning Medically Actionable Genomic Variants to Latino Patients in a Federally Qualified Health Center von Shaibi, G.Q., Kullo, I.J., Singh, D.P., Sharp, R.R., DeFilippis, E., Cuellar, I., Hernandez, V., Levey, S., RadeckiBreitkopf, C., Olson, J.E., Cerhan, J.R., Mandarino, L.J., Thibodeau, S.N., Lindor, N.M.

Volltext bestellen

Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome von Nieuwenhuis, M.H., Kets, C.M., Murphy-Ryan, M., Yntema, H.G., Evans, D.G., Colas, C., Moller, P., Hes, F.J., Hodgson, S.V., Olderode-Berends, M.J.W., Aretz, S., Heinimann, K., Garcia, E.B.G., Douglas, F., Spigelman, A., Timshel, S., Lindor, N.M., Vasen, H.F.A.

Volltext bestellen