Works matching IS 00099163 AND DT 2007 AND VI 72 AND IP 6

Results: 18

Susceptibility genes in breast cancer: more is less?

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 493, doi. 10.1111/j.1399-0004.2007.00909.x

By:

Willems, Patrick J.

Publication type:

Article

Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 551, doi. 10.1111/j.1399-0004.2007.00900.x

By:

Barnetson, R. A.;
Devlin, L.;
Miller, J.;
Farrington, S. M.;
Slater, S.;
Drake, A. C.;
Campbell, H.;
Dunlop, M. G.;
Porteous, M. E.

Publication type:

Article

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 593, doi. 10.1111/j.1399-0004.2007.00901.x

By:

Møller, R. S.;
Hansen, C. P.;
Jackson, G. D.;
Ullmann, R.;
Ropers, H. H.;
Tommerup, N.;
Tümer, Z.

Publication type:

Article

A novel duplication in the FMR1 gene: implications for molecular analysis in fragile X syndrome and repeat instability.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 528, doi. 10.1111/j.1399-0004.2007.00903.x

By:

Mononen, T.;
von Koskull, H.;
Airaksinen, R.-L.;
Juvonen, V.

Publication type:

Article

Increased dental caries in people with neurofibromatosis 1.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 524, doi. 10.1111/j.1399-0004.2007.00886.x

By:

Tucker, T.;
Birch, P.;
Savoy, D. M.;
Friedman, J. M.

Publication type:

Article

Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 517, doi. 10.1111/j.1399-0004.2007.00892.x

By:

Tonelli, A.;
Gallanti, A.;
Bersano, A.;
Cardin, V.;
Ballabio, E.;
Airoldi, G.;
Redaelli, F.;
Candelise, L.;
Bresolin, N.;
Bassi, M. T.

Publication type:

Article

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 546, doi. 10.1111/j.1399-0004.2007.00895.x

By:

Kitajiri, S.-i;
McNamara, R.;
Makishima, T.;
Husnain, T.;
Zafar, A. U.;
Kittles, R. A.;
Ahmed, Z. M.;
Friedman, T. B.;
Riazuddin, S.;
Griffith, A. J.

Publication type:

Article

β-Globin gene cluster polymorphisms are strongly associated with severity of HbE/β<sup>0</sup>-thalassemia.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 497, doi. 10.1111/j.1399-0004.2007.00897.x

By:

Ma, Q.;
Abel, K.;
Sripichai, O.;
Whitacre, J.;
Angkachatchai, V.;
Makarasara, W.;
Winichagoon, P.;
Fucharoen, S.;
Braun, A.;
Farrer, L. A.

Publication type:

Article

Association of the estrogen receptor α gene polymorphisms with osteoporosis in the Mexican population.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 574, doi. 10.1111/j.1399-0004.2007.00898.x

By:

Gómez, R.;
Magaña, J. J.;
Cisneros, B.;
Pérez-Salazar, E.;
Faugeron, S.;
Véliz, D.;
Castro, C.;
Rubio, J.;
Casas, L.;
Valdés-Flores, M.

Publication type:

Article

Non-neuronopathic Gaucher disease due to saposin C deficiency.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 538, doi. 10.1111/j.1399-0004.2007.00899.x

By:

Tylki-Szymańska, A.;
Czartoryska, B.;
Vanier, M.-T.;
Poorthuis, B. J. M. H.;
Groener, J. A. E.;
Ługowska, A.;
Millat, G.;
Vaccaro, A. M.;
Jurkiewicz, E.

Publication type:

Article

The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population.

Published in:

2007

By:

van der Linden, I. J. M.;
Heil, S. G.;
Kouwenberg, I. C.;
den Heijer, M.;
Blom, H. J.

Publication type:

Letter

Do carriers of POLG mutation W748S have disease manifestations?

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 532, doi. 10.1111/j.1399-0004.2007.00908.x

By:

Rantamäki, M.;
Luoma, P.;
Virta, J. J.;
Rinne, J. O.;
Paetau, A.;
Suomalainen, A.;
Udd, B.

Publication type:

Article

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 506, doi. 10.1111/j.1399-0004.2007.00905.x

By:

Wieland, I.;
Weidner, C.;
Ciccone, R.;
Lapi, E.;
McDonald-McGinn, D.;
Kress, W.;
Jakubiczka, S.;
Collmann, H.;
Zuffardi, O.;
Zackai, E.;
Wieacker, P.

Publication type:

Article

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 582, doi. 10.1111/j.1399-0004.2007.00906.x

By:

Krahn, M.;
Pécheux, C.;
Chapon, F.;
Béroud, C.;
Drouin-Garraud, V.;
Laforet, P.;
Romero, N. B.;
Penisson-Besnier, I.;
Bernard, R.;
Urtizberea, J. A.;
Leturcq, F.;
Lévy, N.

Publication type:

Article

Genetic defects underlying Peutz–Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 568, doi. 10.1111/j.1399-0004.2007.00907.x

By:

de Leng, W. W. J.;
Jansen, M.;
Carvalho, R.;
Polak, M.;
Musler, A. R.;
Milne, A. N. A.;
Keller, J. J.;
Menko, F. H.;
de Rooij, F. W. M.;
Iacobuzio-Donahue, C. A.;
Giardiello, F. M.;
Weterman, M. A. J.;
Offerhaus, G. J. A.

Publication type:

Article

Survival estimates for patients with Machado–Joseph disease (SCA3).

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 543, doi. 10.1111/j.1399-0004.2007.00910.x

By:

Kieling, C.;
Prestes, P. R.;
Saraiva-Pereira, M. L.;
Jardim, L. B.

Publication type:

Article

Germline hMSH2 promoter mutation in a Chinese HNPCC kindred: evidence for dual role of LOH.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 556, doi. 10.1111/j.1399-0004.2007.00911.x

By:

Yan, H.;
Jin, H.;
Xue, G.;
Mei, Q.;
Ding, F.;
Hao, L.;
Sun, S.-H.

Publication type:

Article

The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 562, doi. 10.1111/j.1399-0004.2007.00912.x

By:

Ramsoekh, D.;
van Leerdam, M. E.;
Tops, C. M. J.;
Dooijes, D.;
Steyerberg, E. W.;
Kuipers, E. J.;
Wagner, A.

Publication type:

Article