Detalles de la búsqueda
1.
Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction.
Cancer
; 2024 May 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38718029
2.
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Int J Mol Sci
; 24(19)2023 Sep 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37833892
3.
Light sedation with short habituation time for large-scale functional magnetic resonance imaging studies in rats.
NMR Biomed
; 35(6): e4679, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34961988
4.
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Am J Med Genet A
; 188(7): 1979-1989, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35338595
5.
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Am J Med Genet A
; 182(1): 219-223, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31729179
6.
Diabetes Mellitus and Cardiovascular Risk Assessment in Mothers with a History of Gestational Diabetes Mellitus Based on Postpartal Expression Profile of MicroRNAs Associated with Diabetes Mellitus and Cardiovascular and Cerebrovascular Diseases.
Int J Mol Sci
; 21(7)2020 Mar 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-32244558
7.
Evaluation of Vascular Endothelial Function in Young and Middle-Aged Women with Respect to a History of Pregnancy, Pregnancy-Related Complications, Classical Cardiovascular Risk Factors, and Epigenetics.
Int J Mol Sci
; 21(2)2020 Jan 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31936594
8.
Postnatal Expression Profile of microRNAs Associated with Cardiovascular and Cerebrovascular Diseases in Children at the Age of 3 to 11 Years in Relation to Previous Occurrence of Pregnancy-Related Complications.
Int J Mol Sci
; 20(3)2019 Feb 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30717412
9.
The Prediction of Gestational Hypertension, Preeclampsia and Fetal Growth Restriction via the First Trimester Screening of Plasma Exosomal C19MC microRNAs.
Int J Mol Sci
; 20(12)2019 Jun 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-31216670
10.
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
Am J Med Genet A
; 176(11): 2430-2434, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30194816
11.
Periodic fevers and other autoinflammatory diseases.
Cas Lek Cesk
; 157(3): 122-129, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30441946
12.
Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
Clin Chem Lab Med
; 55(8): 1168-1177, 2017 Jul 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-28107167
13.
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Mol Genet Metab
; 119(1-2): 160-7, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27553878
14.
Circulating heat shock protein mRNA profile in gestational hypertension, pre-eclampsia & foetal growth restriction.
Indian J Med Res
; 144(2): 229-237, 2016 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-27934802
15.
Identification of novel informative loci for DNA-based X-inactivation analysis.
Blood Cells Mol Dis
; 54(2): 210-6, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25455112
16.
Assessment of placental and maternal stress responses in patients with pregnancy related complications via monitoring of heat shock protein mRNA levels.
Mol Biol Rep
; 42(3): 625-37, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25359312
17.
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.
J Inherit Metab Dis
; 37(1): 117-24, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23716275
18.
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.
Breast
; 75: 103721, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38554551
19.
The coincidence of IgA nephropathy and Fabry disease.
BMC Nephrol
; 14: 6, 2013 Jan 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-23305247
20.
A consensus protocol for functional connectivity analysis in the rat brain.
Nat Neurosci
; 26(4): 673-681, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36973511