Bach V - Search Results

1

The relationship between iron overload and clinical characteristics in a Spanish cohort of 100 C282Y homozygous hemochromatosis patients.

Altes A, Ruiz A, Martinez C, Esteve A, Vela MD, Remacha AF, Sarda P, Bach V, Baiget M. Altes A, et al. Among authors: bach v. Ann Hematol. 2007 Nov;86(11):831-5. doi: 10.1007/s00277-007-0336-0. Epub 2007 Jul 17. Ann Hematol. 2007. PMID: 17639389

2

Genotype-phenotype correlation in a Spanish population homozygous for the H63D mutation of the HFE gene.

Remacha AF, Sardà MP, Barceló MJ, Bach V, Altès A, Baiget M, Guarner C, Blesa I. Remacha AF, et al. Among authors: bach v. Ann Hematol. 2006 May;85(5):340-2. doi: 10.1007/s00277-006-0092-6. Epub 2006 Mar 8. Ann Hematol. 2006. PMID: 16523311 No abstract available.

3

Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?

Altès A, Bach V, Ruiz A, Esteve A, Remacha AF, Sardà MP, Felez J, Baiget M. Altès A, et al. Among authors: bach v. Ann Hematol. 2009 Apr;88(4):341-5. doi: 10.1007/s00277-008-0590-9. Epub 2008 Sep 27. Ann Hematol. 2009. PMID: 18820912

4

Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.

Altès A, Bach V, Ruiz A, Esteve A, Felez J, Remacha AF, Sardà MP, Baiget M. Altès A, et al. Among authors: bach v. Ann Hematol. 2009 Oct;88(10):951-5. doi: 10.1007/s00277-009-0705-y. Epub 2009 Feb 13. Ann Hematol. 2009. PMID: 19214511 Free article.

5

Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain.

Bach V, Remacha A, Altés A, Barceló MJ, Molina MA, Baiget M. Bach V, et al. Blood Cells Mol Dis. 2006 Jan-Feb;36(1):41-5. doi: 10.1016/j.bcmd.2005.09.001. Epub 2005 Oct 27. Blood Cells Mol Dis. 2006. PMID: 16257244

6

Genotyping the HFE gene by melting point analysis with the LightCycler system: Pros and cons.

Bach V, Barceló MJ, Altés A, Remacha A, Félez J, Baiget M. Bach V, et al. Blood Cells Mol Dis. 2006 Mar-Apr;36(2):288-91. doi: 10.1016/j.bcmd.2005.12.030. Epub 2006 Mar 2. Blood Cells Mol Dis. 2006. PMID: 16515868

7

Serum soluble transferrin receptor concentrations are increased in central obesity. Results from a screening programme for hereditary hemochromatosis in men with hyperferritinemia.

Freixenet N, Remacha A, Berlanga E, Caixàs A, Giménez-Palop O, Blanco-Vaca F, Bach V, Baiget M, Sánchez Y, Félez J, González-Clemente JM. Freixenet N, et al. Among authors: bach v. Clin Chim Acta. 2009 Feb;400(1-2):111-6. doi: 10.1016/j.cca.2008.10.019. Epub 2008 Oct 30. Clin Chim Acta. 2009. PMID: 19000667

8

Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.

Margarit E, Bach V, Gómez D, Bruguera M, Jara P, Queralt R, Ballesta F. Margarit E, et al. Among authors: bach v. Clin Genet. 2005 Jul;68(1):61-8. doi: 10.1111/j.1399-0004.2005.00439.x. Clin Genet. 2005. PMID: 15952988

9

Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.

Montalban G, Bonache S, Moles-Fernández A, Gisbert-Beamud A, Tenés A, Bach V, Carrasco E, López-Fernández A, Stjepanovic N, Balmaña J, Diez O, Gutiérrez-Enríquez S. Montalban G, et al. Among authors: bach v. J Med Genet. 2019 Feb;56(2):63-74. doi: 10.1136/jmedgenet-2018-105606. Epub 2018 Nov 24. J Med Genet. 2019. PMID: 30472649

10

BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.

Montalban G, Bonache S, Bach V, Gisbert-Beamud A, Tenés A, Moles-Fernández A, López-Fernández A, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S. Montalban G, et al. Among authors: bach v. Cancer Genet. 2021 Nov;258-259:10-17. doi: 10.1016/j.cancergen.2021.06.003. Epub 2021 Jun 18. Cancer Genet. 2021. PMID: 34237702

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