Detalhe da pesquisa
1.
The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus.
Cell
; 186(4): 764-785.e21, 2023 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36803604
2.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Brain
; 147(4): 1553-1570, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128548
3.
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Brain
; 2024 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38833623
4.
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
Hum Genet
; 142(1): 21-32, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997807
5.
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis.
Proc Natl Acad Sci U S A
; 116(30): 15116-15121, 2019 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292255
6.
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination.
Clin Genet
; 100(2): 176-186, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33904160
7.
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
J Med Genet
; 57(3): 178-186, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31511340
8.
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
Proc Natl Acad Sci U S A
; 114(35): E7341-E7347, 2017 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28808027
9.
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.
Am J Hum Genet
; 98(6): 1082-1091, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181681
10.
Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.
Am J Kidney Dis
; 73(3): 425-428, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30482581
11.
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Nature
; 482(7383): 98-102, 2012 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22266938
12.
Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.
Proc Natl Acad Sci U S A
; 112(13): 4062-7, 2015 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25787250
13.
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.
Hum Mol Genet
; 24(8): 2318-29, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25576899
14.
Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination.
J Hepatol
; 67(1): 186-191, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28323122
15.
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.
Hepatology
; 71(5): 1879-1882, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863603
16.
Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma.
BMC Cancer
; 16: 646, 2016 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27538953
17.
Novel EWSR1-VGLL1 fusion in a pediatric neuroepithelial neoplasm.
Clin Genet
; 97(5): 791-792, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31925773
18.
Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.
Proc Natl Acad Sci U S A
; 109(7): 2533-8, 2012 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22308486
19.
Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule.
Nat Genet
; 38(10): 1124-32, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16964266
20.
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.
Am J Hum Genet
; 99(4): 1000, 2016 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27716515