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.
A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype.
J Med Genet
; 60(2): 134-136, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35772847
3.
Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.
Clin Genet
; 104(6): 713-715, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37612261
4.
Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.
Am J Med Genet A
; 191(2): 554-558, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308391
5.
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.
Am J Med Genet A
; 188(10): 3071-3077, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35875935
6.
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Am J Med Genet A
; 185(4): 1195-1203, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33421337
7.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
8.
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.
Am J Med Genet A
; 182(10): 2417-2425, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32804427
9.
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Hum Mol Genet
; 26(23): 4741-4751, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973684
10.
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Hum Mol Genet
; 26(21): 4278-4289, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973161
11.
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Pediatr Nephrol
; 33(10): 1701-1712, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974258
12.
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
J Med Genet
; 54(7): 490-501, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28264986
13.
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
PLoS Genet
; 11(10): e1005575, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26485645
14.
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Am J Hum Genet
; 95(2): 131-42, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25018096
15.
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 93(5): 932-44, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24183451
16.
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
Am J Med Genet A
; 170(6): 1566-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26892345
17.
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nat Genet
; 39(7): 882-8, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17558407
18.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
Nat Genet
; 39(7): 889-95, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17546029
19.
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Am J Hum Genet
; 90(5): 864-70, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22503633
20.
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Am J Hum Genet
; 89(5): 634-43, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22019273