Detalhe da pesquisa
1.
Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes.
Pediatr Res
; 92(1): 190-198, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34465876
2.
Distinct genetic variation and heterogeneity of the Iranian population.
PLoS Genet
; 15(9): e1008385, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31550250
3.
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Ann Hum Genet
; 85(5): 186-195, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34111303
4.
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Clin Genet
; 100(4): 486-488, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270086
5.
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Ann Neurol
; 86(3): 368-383, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31298765
6.
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Am J Hum Genet
; 95(5): 622-32, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439729
7.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Nat Genet
; 40(9): 1113-8, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18711368
8.
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
Am J Hum Genet
; 89(5): 668-74, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22077972
9.
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Eur J Hum Genet
; 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316952
10.
Regulation of ClC-2 gating by intracellular ATP.
Pflugers Arch
; 465(10): 1423-37, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23632988
11.
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
JCI Insight
; 8(22)2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37796616
12.
Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.
Carcinogenesis
; 33(8): 1548-52, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22745383
13.
Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol.
Pharmacogenet Genomics
; 21(4): 206-16, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20859245
14.
Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms.
Cytokine
; 51(1): 28-34, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20488723
15.
Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.
Sci Rep
; 10(1): 22447, 2020 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33384439
16.
Copy number variants in lipid metabolism genes are associated with gallstones disease in men.
Eur J Hum Genet
; 28(2): 264-273, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31485028
17.
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
Mov Disord
; 24(3): 429-33, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19097176
18.
Gene polymorphisms in prodynorphin (PDYN) are associated with episodic memory in the elderly.
J Neural Transm (Vienna)
; 116(7): 897-903, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19468819
19.
Leukocyte transcriptional signatures dependent on LPS dosage in human endotoxemia.
J Leukoc Biol
; 106(5): 1153-1160, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31280495
20.
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.
Circulation
; 116(5): 515-25, 2007 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-17646580