Detalhe da pesquisa
1.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531237
2.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108495
3.
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Brain
; 138(Pt 8): 2173-90, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26070982
4.
A new liquid chromatography/tandem mass spectrometry method for quantification of gangliosides in human plasma.
Anal Biochem
; 455: 26-34, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24680754
5.
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.
Proc Natl Acad Sci U S A
; 108(13): 5372-7, 2011 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-21402907
6.
Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency.
Am J Med Genet A
; 161A(4): 875-9, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23436467
7.
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
Proc Natl Acad Sci U S A
; 107(1): 258-63, 2010 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20018682
8.
Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study.
Front Immunol
; 14: 1321370, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38343435
9.
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
Hum Mutat
; 33(12): 1639-46, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23065719
10.
Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy.
Am Heart J
; 162(2): 262-267.e3, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21835286
11.
From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1.
Front Genet
; 12: 652400, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34093650
12.
Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother.
J Mov Disord
; 13(2): 150-153, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32183506
13.
Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion.
Cell Stem Cell
; 27(2): 326-335.e4, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32673568
14.
Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency.
JIMD Rep
; 45: 9-20, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209782
15.
Trophic effect of bee pollen on small intestine in broiler chickens.
J Med Food
; 10(2): 276-80, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17651063
16.
Congenital Glucose-Galactose Malabsorption: A Case Report.
J Pediatr Health Care
; 31(4): 506-510, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283348
17.
Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia.
Oncogene
; 24(4): 724-31, 2005 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-15580307
18.
Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LC-ESI-MS.
Anal Chim Acta
; 929: 31-38, 2016 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27251946
19.
PRL-3 expression in metastatic cancers.
Clin Cancer Res
; 9(15): 5607-15, 2003 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14654542
20.
SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis.
Biomed Res Int
; 2015: 739586, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26504826