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1.
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.
Mol Carcinog
; 54(7): 513-22, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-24302565
2.
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Clin Chem
; 60(2): 341-52, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24212087
3.
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
Hum Mutat
; 34(10): 1424-31, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23893897
4.
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
J Med Genet
; 49(8): 525-32, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22889855
5.
A case series of first rib resection patients assessed with a novel MRI protocol for neurogenic thoracic outlet syndrome.
J Surg Case Rep
; 2023(12): rjad672, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38111495
6.
A case of liver injury and pneumo-haemoperitoneum during pericardiocentesis.
J Surg Case Rep
; 2022(2): rjac009, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-35145624
7.
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
Hum Mutat
; 32(6): 678-87, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21394826
8.
A case of metastatic neuroendocrine disease and cholecystitis: surgical remedy and management of carcinoid crisis.
J Surg Case Rep
; 2021(12): rjab543, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34909171
9.
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Hum Mutat
; 31(6): E1484-505, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20513136
10.
Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.
BMC Med Genet
; 11: 80, 2010 May 28.
Article
in English
| MEDLINE | ID: mdl-20507642
11.
Caution: Plasmid DNA topology affects luciferase assay reproducibility and outcomes.
Biotechniques
; 67(3): 94-96, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31368777
12.
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
PLoS One
; 9(1): e86836, 2014.
Article
in English
| MEDLINE | ID: mdl-24489791
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