Detalhe da pesquisa
1.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863007
2.
Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production.
Am J Physiol Renal Physiol
; 310(9): F895-908, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26887830
3.
Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease.
Kidney Int
; 89(6): 1307-23, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181777
4.
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
Am J Hum Genet
; 93(4): 711-20, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24055112
5.
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
Am J Hum Genet
; 93(4): 672-86, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24094744
6.
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Am J Hum Genet
; 93(2): 336-45, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23891469
7.
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
J Am Soc Nephrol
; 25(8): 1653-61, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24610927
8.
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Kidney Int
; 85(4): 880-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24257694
9.
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Hum Genet
; 132(8): 865-84, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23559409
10.
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
J Med Genet
; 49(12): 756-67, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23188109
11.
Barriers to gBRCA Testing in High-Risk HER2-Negative Early Breast Cancer.
J Pers Med
; 13(8)2023 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37623478
12.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
J Med Genet
; 48(2): 105-16, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21068128
13.
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Kidney Int
; 80(11): 1239-45, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21866095
14.
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion.
Pediatr Nephrol
; 26(6): 967-71, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21258817
15.
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
Am J Med Genet A
; 149A(3): 396-402, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19215039
16.
Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.
Prog Retin Eye Res
; 26(4): 323-58, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17355913
17.
SLC45A2 variations in Indian oculocutaneous albinism patients.
Mol Vis
; 13: 1406-11, 2007 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-17768386
18.
Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplification.
Hum Mutat
; 26(1): 53-8, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15895460
19.
Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.
Mol Vis
; 11: 531-4, 2005 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-16056219
20.
SNPs in genes with copy number variation: a question of specificity.
J Genet
; 87(1): 95-7, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18560181