Balmaña J - Search Results

1

Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.

Montalban G, Bonache S, Moles-Fernández A, Gadea N, Tenés A, Torres-Esquius S, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S. Montalban G, et al. Among authors: balmana j. Hum Mutat. 2019 Dec;40(12):2296-2317. doi: 10.1002/humu.23882. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31343793

2

[Clinical and pathological characteristics and clinical course of patients with breast cancer and BRCA1/BRCA2 mutations].

Pericay C, Díez O, Campos B, Balmaña J, Domènech M, Lerma E, Baena M, Maria Sabaté J, Gómez A, José López J, Baiget M, Alonso C. Pericay C, et al. Among authors: balmana j. Med Clin (Barc). 2001 Jul 7;117(5):161-6. doi: 10.1016/s0025-7753(01)72050-7. Med Clin (Barc). 2001. PMID: 11481082 Spanish.

3

BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families.

Campos B, Diez O, Domènech M, Baena M, Pericay C, Balmaña J, del Rio E, Sanz J, Alonso C, Baiget M. Campos B, et al. Among authors: balmana j. Ann Oncol. 2001 Dec;12(12):1699-703. doi: 10.1023/a:1013517313008. Ann Oncol. 2001. PMID: 11843247 Free article.

4

[Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers].

Balmaña J, Nomdedéu J, Díez O, Sabaté JM, Balil A, Pericay C, López López JJ, Brunet J, Baiget M, Alonso C. Balmaña J, et al. Med Clin (Barc). 2002 Oct 19;119(13):497-9. doi: 10.1016/s0025-7753(02)73474-x. Med Clin (Barc). 2002. PMID: 12406399 Spanish.

5

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.

Campos B, Díez O, Odefrey F, Domènech M, Moncoutier V, Martínez-Ferrandis JI, Osorio A, Balmaña J, Barroso A, Armengod ME, Benítez J, Alonso C, Stoppa-Lyonnet D, Goldgar D, Baiget M. Campos B, et al. Among authors: balmana j. Hum Mutat. 2003 Apr;21(4):452. doi: 10.1002/humu.9133. Hum Mutat. 2003. PMID: 12655574

6

RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.

Campos B, Díez O, Domènech M, Baena M, Balmaña J, Sanz J, Ramírez A, Alonso C, Baiget M. Campos B, et al. Among authors: balmana j. Hum Mutat. 2003 Oct;22(4):337. doi: 10.1002/humu.9176. Hum Mutat. 2003. PMID: 12955719

7

Genetic counseling program in familial breast cancer: analysis of its effectiveness, cost and cost-effectiveness ratio.

Balmaña J, Sanz J, Bonfill X, Casado A, Rué M, Gich I, Díez O, Sabaté JM, Baiget M, Alonso MC. Balmaña J, et al. Int J Cancer. 2004 Nov 20;112(4):647-52. doi: 10.1002/ijc.20458. Int J Cancer. 2004. PMID: 15382046

8

[Haplotype of the BRCA2 6857delAA mutation in 4 families with breast/ovarian cancer].

Campos B, Díez O, Alvarez C, Palma L, Domènech M, Balmaña J, Sanz J, Ramírez A, Alonso C, Carvallo P, Baiget M. Campos B, et al. Among authors: balmana j. Med Clin (Barc). 2004 Oct 23;123(14):543-5. doi: 10.1016/s0025-7753(04)74590-x. Med Clin (Barc). 2004. PMID: 15535929 Spanish.

9

Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?

Balmaña J, Díez O, Campos B, Majewski M, Sanz J, Alonso C, Baiget M, Garber JE. Balmaña J, et al. Breast Cancer Res Treat. 2005 Aug;92(3):273-7. doi: 10.1007/s10549-005-3377-x. Breast Cancer Res Treat. 2005. PMID: 16155798

10

Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?

Gutiérrez-Enríquez S, Balmaña J, Baiget M, Díez O. Gutiérrez-Enríquez S, et al. Among authors: balmana j. Breast Cancer Res Treat. 2008 Feb;107(3):455-7. doi: 10.1007/s10549-007-9555-2. Epub 2007 Apr 26. Breast Cancer Res Treat. 2008. PMID: 17458694 No abstract available.

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