Detalhe da pesquisa
1.
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
PLoS Genet
; 18(4): e1010192, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482848
2.
A new enzymatic assay to quantify inorganic pyrophosphate in plasma.
Anal Bioanal Chem
; 415(3): 481-492, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36400967
3.
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Hum Mutat
; 43(12): 1872-1881, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317459
4.
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Genet Med
; 24(1): 75-86, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906475
5.
Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.
Exp Dermatol
; 31(4): 548-555, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758173
6.
Web-Based Mindfulness-Based Interventions for Well-being: Randomized Comparative Effectiveness Trial.
J Med Internet Res
; 24(9): e35620, 2022 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36094813
7.
Including all voices in international data-sharing governance.
Hum Genomics
; 12(1): 13, 2018 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29514717
8.
From patients to partners: participant-centric initiatives in biomedical research.
Nat Rev Genet
; 13(5): 371-6, 2012 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473380
9.
PhenX measures for phenotyping rare genetic conditions.
Genet Med
; 19(7): 834-837, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28079902
10.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Adv Exp Med Biol
; 1031: 55-94, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29214566
11.
Participant-driven matchmaking in the genomic era.
Hum Mutat
; 36(10): 965-73, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26252162
12.
The Matchmaker Exchange: a platform for rare disease gene discovery.
Hum Mutat
; 36(10): 915-21, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26295439
13.
Evidence synthesis and guideline development in genomic medicine: current status and future prospects.
Genet Med
; 17(1): 63-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24946156
14.
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
Mol Genet Metab
; 114(3): 388-96, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25542617
15.
Making Personalized Health Care Even More Personalized: Insights From Activities of the IOM Genomics Roundtable.
Ann Fam Med
; 13(4): 373-80, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26195686
16.
Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum.
Am J Pathol
; 182(4): 1139-50, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23415960
17.
Reply to: "Comment on 'Magnesium supplementation in the treatment of pseudoxanthoma elasticum: Is magnesium oxide the best choice?'".
J Am Acad Dermatol
; 81(5): e137, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31279807
18.
Magnesium supplementation in the treatment of pseudoxanthoma elasticum: A randomized trial.
J Am Acad Dermatol
; 81(1): 263-265, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30826287
19.
Delivering Digital Health Solutions that Patients Need: A Call to Action.
Ther Innov Regul Sci
; 58(2): 236-241, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38082118
20.
The impact of false-positive newborn screening results on families: a qualitative study.
Genet Med
; 14(1): 76-80, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237434