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The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1414896
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- Article
The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis.
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- Pediatric Pulmonology, 2024, v. 59, n. 4, p. 891, doi. 10.1002/ppul.26842
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- Article
Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 8, p. e3159, doi. 10.1210/clinem/dgac315
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- Article
Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?
- Published in:
- 2021
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- Publication type:
- journal article
Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 4049, doi. 10.3390/ijms23074049
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- Article
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.
- Published in:
- 2021
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- Publication type:
- journal article
Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1191040
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- Publication type:
- Article
Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 899, doi. 10.1038/sj.ejhg.5201256
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- Article
Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 775, doi. 10.1038/sj.ejhg.5201223
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- Article
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
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- European Journal of Endocrinology, 2022, v. 186, n. 2, p. 137, doi. 10.1530/EJE-21-0713
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- Article
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01160-5
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- Article
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 119, doi. 10.3233/JND-221526
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- Article
A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 457, doi. 10.3233/JND-220802
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- Publication type:
- Article
Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.
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- Carcinogenesis, 2017, v. 38, n. 9, p. 938, doi. 10.1093/carcin/bgx069
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- Article
High level of messenger RNA for BRMS1 in primary breast carcinomas is associated with poor prognosis.
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- International Journal of Cancer, 2007, v. 120, n. 6, p. 1169, doi. 10.1002/ijc.22379
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- Publication type:
- Article
Aberrant expression of BARD1 in breast and ovarian cancers with poor prognosis.
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- International Journal of Cancer, 2006, v. 118, n. 5, p. 1215, doi. 10.1002/ijc.21428
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- Publication type:
- Article
Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A , and MSH6 Somatic Variants in Cancer Development.
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- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00397
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- Article
Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.
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- Genes, Chromosomes & Cancer, 2016, v. 55, n. 12, p. 915, doi. 10.1002/gcc.22389
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- Publication type:
- Article
Identification of novel alternatively spliced BRCA1-associated RING domain ( BARD1) messenger RNAs in human peripheral blood lymphocytes and in sporadic breast cancer tissues.
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- Genes, Chromosomes & Cancer, 2007, v. 46, n. 9, p. 791, doi. 10.1002/gcc.20460
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- Publication type:
- Article
Effect of BRCA1 missense variants on gene reversion in DNA double-strand break repair mutants and cell cycle-arrested cells of Saccharomyces cerevisiae.
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- Mutagenesis, 2020, v. 35, n. 2, p. 189, doi. 10.1093/mutage/gez043
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- Article
Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae.
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- Mutagenesis, 2013, v. 28, n. 2, p. 187, doi. 10.1093/mutage/ges069
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- Article
Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review.
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- Sexes, 2023, v. 4, n. 4, p. 462, doi. 10.3390/sexes4040030
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- Article
A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.
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- Human Mutation, 2009, v. 30, n. 1, p. 123, doi. 10.1002/humu.20817
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- Article
The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy.
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- Human Mutation, 2004, v. 24, n. 1, p. 100, doi. 10.1002/humu.20051
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- Publication type:
- Article
In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY -Negative Boy with a 46,XX Disorder of Sex Development.
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- Genes, 2023, v. 14, n. 11, p. 2067, doi. 10.3390/genes14112067
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- Article
Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.
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- International Journal of Molecular Medicine, 2015, v. 35, n. 4, p. 950, doi. 10.3892/ijmm.2015.2103
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- Article
Functional Characterization of the Human BRCA1 ∆11 Splicing Isoforms in Yeast.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7511, doi. 10.3390/ijms25147511
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- Article
The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 21, p. 15507, doi. 10.3390/ijms242115507
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- Article
Effects on human transcriptome of mutated BRCA1 BRCT domain: A microarray study.
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- BMC Cancer, 2012, v. 12, n. 1, p. 207, doi. 10.1186/1471-2407-12-207
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- Article