Detalhe da pesquisa
1.
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Genet Med
; 22(8): 1374-1383, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32398770
2.
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Hum Mol Genet
; 22(11): 2177-85, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418306
3.
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Pediatr Nephrol
; 29(8): 1451-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24504730
4.
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Hum Mutat
; 34(5): 714-24, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418020
5.
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
J Am Soc Nephrol
; 22(11): 2047-56, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22034641
6.
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
Am J Hum Genet
; 82(4): 959-70, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18371931
7.
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Hum Mutat
; 29(1): 45-52, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17705300
8.
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Hum Mutat
; 28(6): 638-9, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17437276
9.
Dosage-sensitive network in polycystic kidney and liver disease: multiple mutations cause severe hepatic and neurological complications.
J Hepatol
; 57(2): 476-7, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22406737
10.
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
Nat Genet
; 49(7): 1025-1034, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28530676
11.
Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation.
N Engl J Med
; 359(3): 318-9, 2008 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-18635443
12.
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
PLoS One
; 10(2): e0116680, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25646624
13.
Transcriptional complexity in autosomal recessive polycystic kidney disease.
Clin J Am Soc Nephrol
; 9(10): 1729-36, 2014 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25104275
14.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Nat Genet
; 45(8): 951-6, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23793029
15.
Clinical utility gene card for: Meckel syndrome - update 2016.
Eur J Hum Genet
; 24(8)2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27094752
16.
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.
J Invest Dermatol
; 128(4): 791-6, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17914448
17.
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.
J Invest Dermatol
; 132(10): 2473-2476, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22696055
18.
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
J Hum Genet
; 51(9): 788-793, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16897190
19.
Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.
Mol Diagn Ther
; 10(3): 163-74, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16771602