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Thymidylate synthase germline polymorphisms in rectal cancer patients treated with neoadjuvant chemoradiotherapy based on 5-fluorouracil.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2010, v. 136, n. 11, p. 1681, doi. 10.1007/s00432-010-0826-7
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- Publication type:
- Article
A novel insertional mutation of a single base in exon 12 of the dystrophin gene.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 3, p. 128, doi. 10.1111/j.1399-0004.1995.tb04071.x
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- Publication type:
- Article
High frequency of mutations as cause of CRB1 Early-Onset Retinal Dystrophies in the Spanish population.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-20
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- Publication type:
- Article
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
- Published in:
- 2013
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- Publication type:
- journal article
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
- Published in:
- 2011
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- Publication type:
- journal article
Conditions for Single-Strand Conformation Polymorphism (SSCP) Analysis of BRCA1 Gene Using an Automated Electrophoresis Unit.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2001, v. 39, n. 5, p. 401, doi. 10.1515/cclm.2001.064
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- Publication type:
- Article
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.
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- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135189
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- Publication type:
- Article
Molecular Detection of Peripheral Blood Breast Cancer mRNA Transcripts as a Surrogate Biomarker for Circulating Tumor Cells.
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- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074079
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- Publication type:
- Article
Polymorphisms of Pyrimidine Pathway Enzymes Encoding Genes and HLA-B*40∶01 Carriage in Stavudine-Associated Lipodystrophy in HIV-Infected Patients.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067035
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- Publication type:
- Article
Interplay between <i>DMD</i> Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes.
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- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059916
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- Publication type:
- Article
Association of Thymidylate Synthase Polymorphisms with Acute Pancreatitis and/or Peripheral Neuropathy in HIV-Infected Patients on Stavudine-Based Therapy.
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- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057347
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- Publication type:
- Article
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
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- Human Genetics, 2009, v. 125, n. 1, p. 29, doi. 10.1007/s00439-008-0598-1
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- Publication type:
- Article
Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.
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- Human Genetics, 2001, v. 108, n. 3, p. 222, doi. 10.1007/s004390000452
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- Publication type:
- Article
Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma.
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- Clinical Endocrinology, 1997, v. 46, n. 3, p. 359, doi. 10.1046/j.1365-2265.1997.00149.x
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- Publication type:
- Article
Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5-FU-based chemotherapy.
- Published in:
- British Journal of Clinical Pharmacology, 2010, v. 70, n. 2, p. 268, doi. 10.1111/j.1365-2125.2010.03683.x
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- Publication type:
- Article
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.
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- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1059, doi. 10.1038/ejhg.2011.89
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- Publication type:
- Article
Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.
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- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1090, doi. 10.1038/sj.ejhg.5201886
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- Publication type:
- Article
Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations.
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- European Journal of Human Genetics, 2003, v. 11, n. 6, p. 489, doi. 10.1038/sj.ejhg.5200969
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- Publication type:
- Article
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1.
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- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 423, doi. 10.1038/sj.ejhg.5200478
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- Publication type:
- Article
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene.
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- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 396, doi. 10.1038/sj.ejhg.5200197
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- Publication type:
- Article
Association of the CFTR gene with asthma and airway mucus hypersecretion.
- Published in:
- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0251881
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- Publication type:
- Article
Ionizing radiation or mitomycin-induced micronuclei in lymphocytes of BRCA1 or BRCA2 mutation carriers.
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- Breast Cancer Research & Treatment, 2011, v. 127, n. 3, p. 611, doi. 10.1007/s10549-010-1017-6
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- Publication type:
- Article
Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.
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- Breast Cancer Research & Treatment, 2010, v. 119, n. 1, p. 221, doi. 10.1007/s10549-009-0394-1
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- Publication type:
- Article
Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?
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- Breast Cancer Research & Treatment, 2008, v. 107, n. 3, p. 455
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- Publication type:
- Article
Sex Ratio Distortion in Offspring of Families with BRCA1 or BRCA2 Mutant Alleles: An Ascertainment Bias Phenomenon?
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- Breast Cancer Research & Treatment, 2005, v. 92, n. 3, p. 273
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- Publication type:
- Article
Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord.
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- Brain: A Journal of Neurology, 2002, v. 125, n. 7, p. 1624
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- Publication type:
- Article
Loss of heterozygosity on chromosome 13q12-q14, BRCA-2 mutations and lack of BRCA-2 promoter hypermethylation in sporadic epithelial ovarian tumors.
- Published in:
- 2001
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- Publication type:
- journal article
Assessment of primary healthcare professionals’ management of hypertensive patients with riser pattern.
- Published in:
- 2015
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- Publication type:
- Journal Article
Assessment of primary healthcare professionals’ management of hypertensive patients with riser pattern.
- Published in:
- European Journal of Cardiovascular Nursing, 2015, v. 14, n. 1, p. 73, doi. 10.1177/1474515113518856
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- Publication type:
- Article
BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations.
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- Carcinogenesis, 2013, v. 34, n. 2, p. 314, doi. 10.1093/carcin/bgs357
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- Publication type:
- Article
Single nucleotide polymorphism in the 5′ tandem repeat sequences of thymidylate synthase gene predicts for response to fluorouracil-based chemotherapy in advanced colorectal cancer patients.
- Published in:
- International Journal of Cancer, 2004, v. 112, n. 5, p. 733, doi. 10.1002/ijc.20487
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- Publication type:
- Article
Genetic counseling program in familial breast cancer: Analysis of its effectiveness, cost and cost-effectiveness ratio.
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- International Journal of Cancer, 2004, v. 112, n. 4, p. 647, doi. 10.1002/ijc.20458
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- Publication type:
- Article
Clustering of cancer-related mutations in a subset of BRCA1 alleles: A study in the Spanish population.
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- International Journal of Cancer, 2002, v. 100, n. 5, p. 618, doi. 10.1002/ijc.10527
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- Publication type:
- Article
BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families.
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- International Journal of Cancer, 1999, v. 83, n. 4, p. 465, doi. 10.1002/(SICI)1097-0215(19991112)83:4<465::AID-IJC5>3.0.CO;2-4
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- Publication type:
- Article
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.
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- 2009
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- Publication type:
- journal article
Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?
- Published in:
- 2009
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- Publication type:
- journal article
The relationship between iron overload and clinical characteristics in a Spanish cohort of 100 C282Y homozygous hemochromatosis patients.
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- 2007
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- Publication type:
- journal article
Early clinical impact of iron overload in stem cell transplantation. A prospective study.
- Published in:
- Annals of Hematology, 2007, v. 86, n. 6, p. 443, doi. 10.1007/s00277-007-0266-x
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- Publication type:
- Article
Genotype-phenotype correlation in a Spanish population homozygous for the H63D mutation of the HFE gene.
- Published in:
- 2006
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- Publication type:
- Letter
Preclinical Memory Profile in Alzheimer Patients with and without Allele APOE-epsilon4.
- Published in:
- European Neurology, 2004, v. 51, n. 4, p. 199, doi. 10.1159/000078486
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- Publication type:
- Article
Haemoglobin Lepore Boston in a Spanish Family.
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- Acta Haematologica, 1976, v. 56, n. 4, p. 234, doi. 10.1159/000207943
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- Publication type:
- Article
Detection of hereditary hemochromatosis and biochemical iron overload in primary care: A multicenter case finding study in Spain.
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- American Journal of Hematology, 2014, v. 89, n. 9, p. 940, doi. 10.1002/ajh.23803
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- Publication type:
- Article
Detection of hereditary hemochromatosis and biochemical iron overload in primary care: A multicenter case finding study in Spain.
- Published in:
- American Journal of Hematology, 2010, v. 85, n. 4, p. 294, doi. 10.1002/ajh.21634
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- Publication type:
- Article
Genome-wide DNA methylation profiling predicts relapse in childhood B-cell acute lymphoblastic leukaemia.
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- British Journal of Haematology, 2013, v. 160, n. 3, p. 406, doi. 10.1111/bjh.12113
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- Publication type:
- Article
Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families.
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- Prenatal Diagnosis, 2007, v. 27, n. 1, p. 68, doi. 10.1002/pd.1627
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- Publication type:
- Article
Characterization of variant alleles of cytochrome CYP2D6 in a Spanish population.
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- Cell Biochemistry & Function, 2006, v. 24, n. 5, p. 381, doi. 10.1002/cbf.1258
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- Publication type:
- Article
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
- Published in:
- Human Mutation, 2010, v. 31, n. 11, p. E1772, doi. 10.1002/humu.21334
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- Publication type:
- Article
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3673, doi. 10.1093/hmg/ddp315
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- Publication type:
- Article
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1559, doi. 10.1093/hmg/ddl079
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- Publication type:
- Article
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 24, p. 3865, doi. 10.1093/hmg/ddi411
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- Publication type:
- Article