Search details
1.
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
PLoS Genet
; 18(12): e1010504, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36480544
2.
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.
Am J Med Genet A
; 194(4): e63501, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38082334
3.
The impact of GeneMatcher on international data sharing and collaboration.
Hum Mutat
; 43(6): 668-673, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35170833
4.
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Hum Mutat
; 43(6): 782-790, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35191117
5.
Transcriptomic and histological analysis of exposed facial skin areas wrinkled or not and unexposed skin.
Mol Biol Rep
; 49(3): 1669-1678, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-34851478
6.
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Hum Genet
; 140(9): 1299-1312, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34185153
7.
Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations.
Metab Brain Dis
; 36(2): 265-272, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33156427
8.
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
Am J Med Genet A
; 182(7): 1664-1672, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32369272
9.
Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.
Mol Vis
; 24: 546-559, 2018.
Article
in English
| MEDLINE | ID: mdl-30093795
10.
The role of N-terminal and C-terminal Arg residues from BK on interaction with kinin B2 receptor.
Biol Chem
; 397(4): 305-14, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26584354
11.
New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
Biol Chem
; 397(4): 337-44, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26812872
12.
An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq.
BMC Med Genomics
; 16(1): 94, 2023 05 03.
Article
in English
| MEDLINE | ID: mdl-37138349
13.
Functional characterization of novel variants found in patients with suspected Fabry disease.
Clin Chim Acta
; 534: 156-160, 2022 Sep 01.
Article
in English
| MEDLINE | ID: mdl-35870541
14.
Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms.
Cancers (Basel)
; 13(13)2021 Jun 29.
Article
in English
| MEDLINE | ID: mdl-34209587
15.
Integrating Whole Blood Transcriptomic Collection Procedures Into the Current Anti-Doping Testing System, Including Long-Term Storage and Re-Testing of Anti-Doping Samples.
Front Mol Biosci
; 8: 728273, 2021.
Article
in English
| MEDLINE | ID: mdl-34765642
16.
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
Ophthalmic Genet
; 42(5): 553-560, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34157943
17.
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
Orphanet J Rare Dis
; 16(1): 365, 2021 08 18.
Article
in English
| MEDLINE | ID: mdl-34407837
18.
Role of the second disulfide bridge (Cys(18)-Cys(274)) in stabilizing the inactive AT1 receptor.
Biol Chem
; 391(10): 1189-95, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20707602
19.
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Orphanet J Rare Dis
; 15(1): 30, 2020 01 29.
Article
in English
| MEDLINE | ID: mdl-31996269
20.
Cross talk between kinin and angiotensin II receptors in mouse abdominal aorta.
Biol Chem
; 390(9): 907-13, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19453270