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1.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38251460
2.
Isolation from Stevia rebaudiana of DMDP acetic acid, a novel iminosugar amino acid: synthesis and glycosidase inhibition profile of glycine and ß-alanine pyrrolidine amino acids.
Amino Acids
; 51(7): 991-998, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31079215
3.
d-Idose, d-Iduronic Acid, and d-Idonic Acid from d-Glucose via Seven-Carbon Sugars.
Molecules
; 24(20)2019 Oct 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-31635397
4.
In silico analyses of essential interactions of iminosugars with the Hex A active site and evaluation of their pharmacological chaperone effects for Tay-Sachs disease.
Org Biomol Chem
; 15(44): 9297-9304, 2017 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28959811
5.
6-Deoxyhexoses from l-Rhamnose in the Search for Inducers of the Rhamnose Operon: Synergy of Chemistry and Biotechnology.
Chemistry
; 22(35): 12557-65, 2016 Aug 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-27439720
6.
Phytochemical uptake following human consumption of Montmorency tart cherry (L. Prunus cerasus) and influence of phenolic acids on vascular smooth muscle cells in vitro.
Eur J Nutr
; 55(4): 1695-705, 2016 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-26163338
7.
3-Fluoroazetidinecarboxylic Acids and trans,trans-3,4-Difluoroproline as Peptide Scaffolds: Inhibition of Pancreatic Cancer Cell Growth by a Fluoroazetidine Iminosugar.
J Org Chem
; 80(9): 4244-58, 2015 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-25859886
8.
Outcome for children and young people with Early T-cell precursor acute lymphoblastic leukaemia treated on a contemporary protocol, UKALL 2003.
Br J Haematol
; 166(3): 421-4, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24708207
9.
Nine of 16 stereoisomeric polyhydroxylated proline amides are potent ß-N-acetylhexosaminidase inhibitors.
J Org Chem
; 79(8): 3398-409, 2014 Apr 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-24641544
10.
Short and sweet: (D)-glucose to (L)-glucose and (L)-glucuronic acid.
Angew Chem Int Ed Engl
; 53(4): 1160-2, 2014 Jan 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-24310928
11.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
HGG Adv
; 5(3): 100309, 2024 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38751117
12.
Prognostic impact of the absence of biallelic deletion at the TRG locus for pediatric patients with T-cell acute lymphoblastic leukemia treated on the Medical Research Council UK Acute Lymphoblastic Leukemia 2003 trial.
Haematologica
; 103(7): e288-e292, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29519867
13.
C-branched iminosugars: α-glucosidase inhibition by enantiomers of isoDMDP, isoDGDP, and isoDAB-L-isoDMDP compared to miglitol and miglustat.
J Org Chem
; 78(15): 7380-97, 2013 Aug 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-23688199
14.
An approach to 8 stereoisomers of homonojirimycin from (D)-glucose via kinetic & thermodynamic azido-γ-lactones.
Org Biomol Chem
; 11(40): 6886-99, 2013 Sep 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-23963282
15.
(3R,4S,5R,6R,7S)-3,4,5,7-Tetrahydroxyconidine, an azetidine analogue of 6,7-diepicastanospermine and a conformationally constrained d-deoxyaltronojirimycin, from l-arabinose.
Bioorg Med Chem
; 21(16): 4813-9, 2013 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23545138
16.
2-N-Benzyl-2,6-dide-oxy-2,6-imino-3,4-O-iso-propyl-idene-d-allono-nitrile.
Acta Crystallogr Sect E Struct Rep Online
; 69(Pt 12): o1772, 2013 Nov 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-24454220
17.
PDIA6 and Maspin in Prostate Cancer.
Anticancer Res
; 43(12): 5331-5340, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-38030170
18.
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
medRxiv
; 2023 Sep 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37745552
19.
The limitations of renal epithelial cell line HK-2 as a model of drug transporter expression and function in the proximal tubule.
Pflugers Arch
; 464(6): 601-11, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23014881
20.
The impact on outcome of the addition of all-trans retinoic acid to intensive chemotherapy in younger patients with nonacute promyelocytic acute myeloid leukemia: overall results and results in genotypic subgroups defined by mutations in NPM1, FLT3, and CEBPA.
Blood
; 115(5): 948-56, 2010 Feb 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-19965647