Detalhe da pesquisa
1.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A
; 191(8): 2113-2131, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377026
2.
Overcoming chemotherapy drug resistance by targeting inhibitors of apoptosis proteins (IAPs).
Apoptosis
; 22(7): 898-919, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28424988
3.
G-Protein-Coupled Receptor 35 Mediates Human Saphenous Vein Vascular Smooth Muscle Cell Migration and Endothelial Cell Proliferation.
J Vasc Res
; 52(6): 383-95, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-27064272
4.
The antiallergic mast cell stabilizers lodoxamide and bufrolin as the first high and equipotent agonists of human and rat GPR35.
Mol Pharmacol
; 85(1): 91-104, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24113750
5.
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Nat Genet
; 36(6): 631-5, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15146186
6.
Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
Mov Disord
; 23(9): 1303-6, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18464277
7.
Calcium-regulatory proteins as modulators of chemotherapy in human neuroblastoma.
Oncotarget
; 8(14): 22876-22893, 2017 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28206967
8.
Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.
Arch Ophthalmol
; 124(4): 552-7, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16606884
9.
Subunit-specific regulation of NMDA receptor endocytosis.
J Neurosci
; 24(28): 6383-91, 2004 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-15254094
10.
Differential binding of the AP-2 adaptor complex and PSD-95 to the C-terminus of the NMDA receptor subunit NR2B regulates surface expression.
Neuropharmacology
; 45(6): 729-37, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14529712
11.
Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?
Am J Med Genet A
; 143A(14): 1560-6, 2007 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17455295
12.
Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.
Am J Med Genet A
; 140(8): 827-36, 2006 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16532460
13.
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
Am J Med Genet A
; 138(1): 27-31, 2005 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16100726
14.
Different nematocytes have different synapses in the sea anemone Aiptasia pallida (Cnidaria, Anthozoa).
J Morphol
; 238(1): 53-62, 1998 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29852659
15.
Trafficking and surface expression of the glutamate receptor subunit, KA2.
Biochem Biophys Res Commun
; 310(1): 8-13, 2003 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-14511640
16.
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
Am J Hum Genet
; 75(4): 610-23, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15318302