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Analysis of Three Functional Polymorphisms in Relation to Osteoporosis Phenotypes: Replication in a Spanish Cohort.
- Published in:
- Calcified Tissue International, 2010, v. 87, n. 1, p. 14, doi. 10.1007/s00223-010-9361-4
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- Publication type:
- Article
Promoter 2 -1025 T/C Polymorphism in the RUNX2 Gene Is Associated with Femoral Neck BMD in Spanish Postmenopausal Women.
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- Calcified Tissue International, 2007, v. 81, n. 4, p. 327, doi. 10.1007/s00223-007-9069-2
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- Publication type:
- Article
Bone Mass of a 113-Year-Old Man.
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- Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2007, v. 62, n. 7, p. 794, doi. 10.1093/gerona/62.7.794
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- Publication type:
- Article
Regulation of CYP19 gene expression in primary human osteoblasts: effects of vitamin D and other treatments.
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- European Journal of Endocrinology, 2003, v. 148, n. 5, p. 0519
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- Publication type:
- Article
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
- Published in:
- 2007
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- Publication type:
- Correction Notice
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 4, p. 305, doi. 10.1007/s10038-006-0362-0
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- Publication type:
- Article
Screening of CD96 and ASXL1 in 11 Patients with Opitz C or Bohring-Opitz Syndromes.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 24, doi. 10.1002/ajmg.a.37418
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- Publication type:
- Article
Analyses of RANK and RANKL in the Post-GWAS Context: Functional Evidence of Vitamin D Stimulation Through a RANKL Distal Region.
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- Journal of Bone & Mineral Research, 2013, v. 28, n. 12, p. 2550, doi. 10.1002/jbmr.2001
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- Publication type:
- Article
COL1A1 haplotypes and hip fracture.
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- Journal of Bone & Mineral Research, 2012, v. 27, n. 4, p. 950, doi. 10.1002/jbmr.1536
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- Publication type:
- Article
Functional relevance of the BMD-associated polymorphism rs312009: Novel Involvement of RUNX2 in LRP5 transcriptional regulation.
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- Journal of Bone & Mineral Research, 2011, v. 26, n. 5, p. 1133, doi. 10.1002/jbmr.293
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- Publication type:
- Article
A Haplotype-Based Analysis of the LRP5 Gene in Relation to Osteoporosis Phenotypes in Spanish Postmenopausal Women.
- Published in:
- Journal of Bone & Mineral Research, 2008, v. 23, n. 12, p. 1954, doi. 10.1359/jbmr.080806
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- Publication type:
- Article
Two New Single-Nucleotide Polymorphisms in the COL1A1 Upstream Regulatory Region and Their Relationship to Bone Mineral Density.
- Published in:
- Journal of Bone & Mineral Research, 2002, v. 17, n. 3, p. 384, doi. 10.1359/jbmr.2002.17.3.384
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- Publication type:
- Article
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
- Published in:
- Scientific Reports, 2017, p. 44138, doi. 10.1038/srep44138
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- Publication type:
- Article
Beyond the genotype.
- Published in:
- 1995
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- Publication type:
- Book Review
Making the long story of transcription short .
- Published in:
- 1990
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- Publication type:
- Book Review
Genetic Analysis of High Bone Mass Cases from the BARCOS Cohort of Spanish Postmenopausal Women.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094607
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- Publication type:
- Article
Haplotypes Defined by Promoter and Intron 1 Polymorphisms of the COLIA1 Gene Regulate Bone Mineral Density in Women.
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- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 9, p. 3575, doi. 10.1210/jc.2005-2651
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- Publication type:
- Article
Effect of IL-1β, PGE.
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- Journal of Cellular Biochemistry, 2010, v. 110, n. 2, p. 304, doi. 10.1002/jcb.22538
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- Publication type:
- Article
Simvastatin and atorvastatin enhance gene expression of collagen type 1 and osteocalcin in primary human osteoblasts and MG-63 cultures.
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- Journal of Cellular Biochemistry, 2007, v. 101, n. 6, p. 1430, doi. 10.1002/jcb.21259
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- Publication type:
- Article
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 197, doi. 10.1038/sj.ejhg.5200784
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- Publication type:
- Article
Genetic determinants of aromatase inhibitor-related arthralgia: the B-ABLE cohort study.
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- Breast Cancer Research & Treatment, 2013, v. 140, n. 2, p. 385, doi. 10.1007/s10549-013-2638-3
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- Publication type:
- Article
Large-Scale Analysis of Association Between LRP5 and LRP6 Variants and Osteoporosis.
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- JAMA: Journal of the American Medical Association, 2008, v. 299, n. 11, p. 1277, doi. 10.1001/jama.299.11.1277
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- Publication type:
- Article
MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.
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- BMC Medical Genomics, 2015, p. 1, doi. 10.1186/s12920-015-0149-2
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- Publication type:
- Article
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Expression profiling of microRNAs in human bone tissue from postmenopausal women.
- Published in:
- Human Cell, 2018, v. 31, n. 1, p. 33, doi. 10.1007/s13577-017-0181-y
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- Publication type:
- Article
Description of extreme longevity in the Balearic Islands: Exploring a potential Blue Zone in Menorca, Spain.
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- Geriatrics & Gerontology International, 2014, v. 14, n. 3, p. 620, doi. 10.1111/ggi.12148
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- Publication type:
- Article
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
- Published in:
- Human Mutation, 2011, v. 32, n. 7, p. 835, doi. 10.1002/humu.21514
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- Publication type:
- Article
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
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- Human Mutation, 2006, v. 27, n. 3, p. 296, doi. 10.1002/humu.9416
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- Publication type:
- Article
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
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- Human Mutation, 2006, v. 27, n. 2, p. 211, doi. 10.1002/humu.9395
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- Publication type:
- Article
Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0208131
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- Publication type:
- Article
Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone‐Relevant Cell Types.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 12, p. 2091, doi. 10.1002/jbmr.3580
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- Publication type:
- Article
Correction: Large-Scale Evidence for the Effect of the COLIA1 Sp1 Polymorphism on Osteoporosis Outcomes: The GENOMOS Study.
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- 2006
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- Publication type:
- Correction Notice
Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study.
- Published in:
- 2006
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- Publication type:
- journal article
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S (Communicated by Jan Kraus) Online Citation: Human Mutation, Mutation in Brief #624 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/624.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9153
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- Publication type:
- Article
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307SCommunicated by Jan KrausOnline Citation: Human Mutation, Mutation in Brief #624 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/624.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9153
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- Publication type:
- Article
Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.
- Published in:
- Human Mutation, 2002, v. 20, n. 6, p. 476, doi. 10.1002/humu.9086
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- Publication type:
- Article
Spectrum of ABCA4 ( ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 504, doi. 10.1002/humu.1133
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- Publication type:
- Article
Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.
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- Human Mutation, 1996, v. 8, n. 4, p. 393, doi. 10.1002/humu.1380080403
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- Publication type:
- Article
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β-glucocerebrosidase gene in Gaucher's disease patients.
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- Human Mutation, 1996, v. 7, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#
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- Publication type:
- Article
Gaucher disease in Spanish patients: Analysis of eight mutations.
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- Human Mutation, 1995, v. 5, n. 4, p. 303, doi. 10.1002/humu.1380050406
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- Publication type:
- Article
Homozygous tandem duplication within the gene encoding the β-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 228, doi. 10.1002/humu.1380050307
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- Publication type:
- Article