Found: 14
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Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2021, v. 479, n. 2, p. 413, doi. 10.1007/s00428-020-02979-2
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- Article
Conditions for Single-Strand Conformation Polymorphism (SSCP) Analysis of BRCA1 Gene Using an Automated Electrophoresis Unit.
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- Clinical Chemistry & Laboratory Medicine, 2001, v. 39, n. 5, p. 401, doi. 10.1515/cclm.2001.064
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- Article
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
- Published in:
- Fetal Diagnosis & Therapy, 2021, v. 48, n. 10, p. 746, doi. 10.1159/000519701
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- Article
The effectiveness of diacutaneous fibrolysis on pain, range of motion and functionality in musculoskeletal disorders: A systematic review and meta-analysis.
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- Clinical Rehabilitation, 2021, v. 35, n. 4, p. 481, doi. 10.1177/0269215520968056
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- Article
Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.
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- 2013
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- Publication type:
- Report
Sex Ratio Distortion in Offspring of Families with BRCA1 or BRCA2 Mutant Alleles: An Ascertainment Bias Phenomenon?
- Published in:
- Breast Cancer Research & Treatment, 2005, v. 92, n. 3, p. 273
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- Publication type:
- Article
New Subtype of Spinocerebellar Ataxia With Altered Vertical Eye Movements Mapping to Chromosome 1p32.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 6, p. 764, doi. 10.1001/jamaneurol.2013.2311
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- Article
Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report.
- Published in:
- 2023
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- Publication type:
- Case Study
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2 -Neurodevelopmental Disorder Episignature.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 14240, doi. 10.3390/ijms241814240
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- Article
RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #647 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/647.pdf</FN>
- Published in:
- Human Mutation, 2003, v. 22, n. 4, p. 337, doi. 10.1002/humu.9176
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- Article
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects<FN ID="fn1">Communicated by Ellen Solomon</FN>.
- Published in:
- Human Mutation, 2003, v. 22, n. 4, p. 301, doi. 10.1002/humu.10260
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- Article
Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #604 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 452, doi. 10.1002/humu.9133
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- Article
Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from SpainCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #604 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 452, doi. 10.1002/humu.9133
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- Publication type:
- Article
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 520, doi. 10.1002/humu.1136
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- Publication type:
- Article