Detalhe da pesquisa
1.
Discovery of lirafugratinib (RLY-4008), a highly selective irreversible small-molecule inhibitor of FGFR2.
Proc Natl Acad Sci U S A
; 121(6): e2317756121, 2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38300868
2.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
3.
Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.
J Pediatr Hematol Oncol
; 43(1): e138-e140, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31743320
4.
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
J Med Genet
; 56(5): 308-316, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30819809
5.
Ataxia-telangiectasia: Immunodeficiency and survival.
Clin Immunol
; 178: 45-55, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28126470
6.
Inhibition of bromodomain-containing protein 9 for the prevention of epigenetically-defined drug resistance.
Bioorg Med Chem Lett
; 27(15): 3534-3541, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28606761
7.
Development of methyl isoxazoleazepines as inhibitors of BET.
Bioorg Med Chem Lett
; 25(9): 1842-8, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25851940
8.
RLY-4008, the First Highly Selective FGFR2 Inhibitor with Activity across FGFR2 Alterations and Resistance Mutations.
Cancer Discov
; 13(9): 2012-2031, 2023 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37270847
9.
Identification of GDC-1971 (RLY-1971), a SHP2 Inhibitor Designed for the Treatment of Solid Tumors.
J Med Chem
; 66(19): 13384-13399, 2023 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37774359
10.
First international workshop of the ATM and cancer risk group (4-5 December 2019).
Fam Cancer
; 21(2): 211-227, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125377
11.
GNE-064: A Potent, Selective, and Orally Bioavailable Chemical Probe for the Bromodomains of SMARCA2 and SMARCA4 and the Fifth Bromodomain of PBRM1.
J Med Chem
; 65(16): 11177-11186, 2022 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35930799
12.
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Nat Commun
; 13(1): 6664, 2022 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333305
13.
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
J Neurol
; 267(3): 830-837, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31776720
14.
Palladium-catalyzed enantioselective alpha-arylation and alpha-vinylation of oxindoles facilitated by an axially chiral P-stereogenic ligand.
J Am Chem Soc
; 131(29): 9900-1, 2009 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-19580273
15.
Identification and characterization of novel sirtuin inhibitor scaffolds.
Bioorg Med Chem
; 17(19): 7031-41, 2009 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19734050
16.
Aziridines as intermediates in diversity-oriented syntheses of alkaloids.
Tetrahedron Lett
; 50(26): 3230-3233, 2009 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-20046991
17.
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.
Tremor Other Hyperkinet Mov (N Y)
; 92019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31656689
18.
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
Neurology
; 92(1): e19-e29, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504431
19.
GNE-371, a Potent and Selective Chemical Probe for the Second Bromodomains of Human Transcription-Initiation-Factor TFIID Subunit 1 and Transcription-Initiation-Factor TFIID Subunit 1-like.
J Med Chem
; 61(20): 9301-9315, 2018 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289257
20.
GNE-886: A Potent and Selective Inhibitor of the Cat Eye Syndrome Chromosome Region Candidate 2 Bromodomain (CECR2).
ACS Med Chem Lett
; 8(7): 737-741, 2017 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28740608