Works matching IS 00099163 AND DT 2009 AND VI 76 AND IP 5

Results: 13

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 493, doi. 10.1111/j.1399-0004.2009.01261.x

By:

Brakensiek, Kai;
Fegbeutel, Christine;
Mälzer, Madeleine;
Strüber, Martin;
Kreipe, Hans;
Stuhrmann, Manfred

Publication type:

Article

Analysis of the CTNS gene in 32 cystinosis patients from Spain.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 486, doi. 10.1111/j.1399-0004.2009.01222.x

By:

Macías-Vidal, J.;
Rodés, M.;
Hernández-Pérez, J. M.;
Vilaseca, M. A.;
Coll, M. J.

Publication type:

Article

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 465, doi. 10.1111/j.1399-0004.2009.01234.x

By:

Repetto, G. M.;
Guzmán, M. L.;
Puga, A.;
Calderón, J. F.;
Astete, C. P.;
Aracena, M.;
Arriaza, M.;
Aravena, T.;
Sanz, P.

Publication type:

Article

Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 481, doi. 10.1111/j.1399-0004.2009.01259.x

By:

Nasti, S.;
Pastorino, L.;
Bruno, W.;
Gargiulo, S.;
Battistuzzi, L.;
Zavattaro, E.;
Leigheb, G.;
De Francesco, V.;
Tulli, A.;
Mari, F.;
Scarrà, G. Bianchi;
Ghiorzo, P.

Publication type:

Article

Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 427, doi. 10.1111/j.1399-0004.2009.01246.x

By:

Marshall, M.;
Solomon, S.;
Lawrence Wickerham, D.

Publication type:

Article

Novel B3GALTL mutation in Peters-plus Syndrome.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 490, doi. 10.1111/j.1399-0004.2009.01253.x

By:

Dassie-Ajdid, J.;
Causse, A.;
Poidvin, A.;
Granier, M.;
Kaplan, J.;
Burglen, L.;
Doummar, D.;
Teisseire, P.;
Vigouroux, A.;
Malecaze, F.;
Calvas, P.;
Chassaing, N.

Publication type:

Article

Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 449, doi. 10.1111/j.1399-0004.2009.01239.x

By:

Roifman, C. M.;
Chitayat, D.

Publication type:

Article

MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 477, doi. 10.1111/j.1399-0004.2009.01270.x

By:

Bonyadi, M.;
Esmaeili, M.;
Jalali, H.;
Somi, M. H.;
Ghaffari, A.;
Rafeey, M.;
Sakha, K.;
Lotfalizadeh, N.;
Pourhassan, A.;
Khoshbaten, M.;
Ardalan, M. R.;
Laghaeian, N.

Publication type:

Article

Chromosome imbalances in syndromic hearing loss.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 458, doi. 10.1111/j.1399-0004.2009.01276.x

By:

Catelani, A. L. P. M.;
Krepischi, A. C. V.;
Kim, C. A.;
Kok, F.;
Otto, P. A.;
Auricchio, M. T. B. M.;
Mazzeu, J. F.;
Uehara, D. T.;
Costa, S. S.;
Knijnenburg, J.;
Tabith Jr., A.;
Vianna-Morgante, A. M.;
Mingroni-Netto, R. C.;
Rosenberg, C.

Publication type:

Article

The contribution of founder mutations to early-onset breast cancer in French-Canadian women.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 421, doi. 10.1111/j.1399-0004.2009.01277.x

By:

Ghadirian, P.;
Robidoux, A.;
Zhang, P.;
Royer, R.;
Akbari, M.;
Zhang, S.;
Fafard, E.;
Costa, M.;
Martin, G.;
Potvin, C.;
Patocskai, E.;
Larouche, N.;
Younan, R.;
Nassif, E.;
Giroux, S.;
Narod, S. A.;
Rousseau, F.;
Foulkes, W. D.

Publication type:

Article

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 431, doi. 10.1111/j.1399-0004.2009.01278.x

By:

Faiyaz-Ul-Haque, M.;
Bin-Abbas, B.;
Al-Abdullatif, A.;
Abdullah Abalkhail, H.;
Toulimat, M.;
Al-Gazlan, S.;
Almutawa, A. M.;
Al-Sagheir, A.;
Peltekova, I.;
Al-Dayel, F.;
Zaidi, S. H. E.

Publication type:

Article

Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 441, doi. 10.1111/j.1399-0004.2009.01280.x

By:

Zaidi, G.;
Sahu, R. P.;
Zhang, L.;
George, G.;
Bhavani, N.;
Shah, N.;
Bhatia, V.;
Bhansali, A.;
Jevalikar, G.;
Jayakumar, R. V.;
Eisenbarth, G. S.;
Bhatia, E.

Publication type:

Article

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 471, doi. 10.1111/j.1399-0004.2009.01275.x

By:

Loesch, D. Z.;
Khaniani, M. S.;
Slater, H. R.;
Rubio, J. P.;
Bui, Q. M.;
Kotschet, K.;
D'Souza, W.;
Venn, A.;
Kalitsis, P.;
Choo, A. K. H.;
Burgess, T.;
Johnson, L.;
Evans, A.;
Horne, M.

Publication type:

Article