Works matching IS 00099163 AND DT 2015 AND VI 87 AND IP 6

Results: 18

Lynch syndrome: five unanswered questions.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 503, doi. 10.1111/cge.12580
By:
- Castellsagué, E.;
- Foulkes, W.D.
Publication type:
Article
Establishing cancer risks associated with PMS2 germline mutations in Lynch syndrome.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 533, doi. 10.1111/cge.12583
By:
- Caron, N. S.
Publication type:
Article
Origin of MLH1, MSH2, MSH6 and PMS2 mutations can help inform long-term care strategies for patients with colorectal and endometrial cancer.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 534, doi. 10.1111/cge.12584
By:
- Hickmott, J. W.
Publication type:
Article
Detailed characterization of MLH1 p. D41H and p. N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 543, doi. 10.1111/cge.12467
By:
- Pineda, M.;
- González‐Acosta, M.;
- Thompson, B.A.;
- Sánchez, R.;
- Gómez, C.;
- Martínez‐López, J.;
- Perea, J.;
- Caldés, T.;
- Rodríguez, Y.;
- Landolfi, S.;
- Balmaña, J.;
- Lázaro, C.;
- Robles, L.;
- Capellá, G.;
- Rueda, D.
Publication type:
Article
Genetic features of Lynch syndrome in the Israeli population.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 549, doi. 10.1111/cge.12530
By:
- Goldberg, Y.;
- Barnes‐Kedar, I.;
- Lerer, I.;
- Halpern, N.;
- Plesser, M.;
- Hubert, A.;
- Kadouri, L.;
- Goldshmidt, H.;
- Solar, I.;
- Strul, H.;
- Rosner, G.;
- Baris, H.N.;
- Peretz, T.;
- Levi, Z.;
- Kariv, R.
Publication type:
Article
Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 599, doi. 10.1111/cge.12486
By:
- Hameed, A.;
- Mir, A.;
- Nasir, M.;
- Ajmal, M.
Publication type:
Article
Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 517, doi. 10.1111/cge.12559
By:
- Barrow, P.;
- Green, K.;
- Clancy, T.;
- Lalloo, F.;
- Hill, J.;
- Evans, D.G.
Publication type:
Article
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 588, doi. 10.1111/cge.12431
By:
- Gu, X.;
- Guo, L.;
- Ji, H.;
- Sun, S.;
- Chai, R.;
- Wang, L.;
- Li, H.
Publication type:
Article
A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 594, doi. 10.1111/cge.12432
By:
- Choi, B.‐O.;
- Nakhro, K.;
- Park, H.J.;
- Hyun, Y.S.;
- Lee, J.H.;
- Kanwal, S.;
- Jung, S.‐C.;
- Chung, K.W.
Publication type:
Article
Help or hindrance: young people's experiences of predictive testing for Huntington's disease.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 563, doi. 10.1111/cge.12439
By:
- Forrest Keenan, K.;
- McKee, L.;
- Miedzybrodzka, Z.
Publication type:
Article
Detecting somatic mosaicism: considerations and clinical implications.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 554, doi. 10.1111/cge.12502
By:
- Cohen, A.S.A.;
- Wilson, S.L.;
- Trinh, J.;
- Ye, X.C.
Publication type:
Article
Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 525, doi. 10.1111/cge.12509
By:
- Esplen, M.J.;
- Wong, J.;
- Aronson, M.;
- Butler, K.;
- Rothenmund, H.;
- Semotiuk, K.;
- Madlensky, L.;
- Way, C.;
- Dicks, E.;
- Green, J.;
- Gallinger, S.
Publication type:
Article
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 536, doi. 10.1111/cge.12526
By:
- Castellsagué, E.;
- Liu, J.;
- Volenik, A.;
- Giroux, S.;
- Gagné, R.;
- Maranda, B.;
- Roussel‐Jobin, A.;
- Latreille, J.;
- Laframboise, R.;
- Palma, L.;
- Kasprzak, L.;
- Marcus, V.A.;
- Breguet, M.;
- Nolet, S.;
- El‐Haffaf, Z.;
- Australie, K.;
- Gologan, A.;
- Aleynikova, O.;
- Oros‐Klein, K.;
- Greenwood, C.
Publication type:
Article
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 507, doi. 10.1111/cge.12529
By:
- Ponti, G.;
- Castellsagué, E.;
- Ruini, C.;
- Percesepe, A.;
- Tomasi, A.
Publication type:
Article
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 570, doi. 10.1111/cge.12425
By:
- Cross, J.L.;
- Iben, J.;
- Simpson, C.L.;
- Thurm, A.;
- Swedo, S.;
- Tierney, E.;
- Bailey‐Wilson, J.E.;
- Biesecker, L.G.;
- Porter, F.D.;
- Wassif, C.A.
Publication type:
Article
Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 576, doi. 10.1111/cge.12426
By:
- Brasil, S.;
- Richard, E.;
- Jorge‐Finnigan, A.;
- Leal, F.;
- Merinero, B.;
- Banerjee, R.;
- Desviat, L.R.;
- Ugarte, M.;
- Pérez, B.
Publication type:
Article
BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 582, doi. 10.1111/cge.12427
By:
- Garre, P.;
- Martín, L.;
- Sanz, J.;
- Romero, A.;
- Tosar, A.;
- Bando, I.;
- Llovet, P.;
- Diaque, P.;
- García‐Paredes, B.;
- Díaz‐Rubio, E.;
- de la Hoya, M.;
- Caldés, T.
Publication type:
Article
Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome.
Published in:
Clinical Genetics, 2015, v. 87, n. 6, p. 602, doi. 10.1111/cge.12494
By:
- Oz‐Levi, D.;
- Weiss, B.;
- Lahad, A.;
- Greenberger, S.;
- Pode‐Shakked, B.;
- Somech, R.;
- Olender, T.;
- Tatarsky, P.;
- Marek‐Yagel, D.;
- Pras, E.;
- Anikster, Y.;
- Lancet, D.
Publication type:
Article