Detalhe da pesquisa
1.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Int J Mol Sci
; 24(10)2023 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240074
2.
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Hum Mutat
; 41(1): 240-254, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31549751
3.
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Brain
; 140(2): 287-305, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28137957
4.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Brain
; 140(8): 2093-2103, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28633435
5.
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
Genet Med
; 18(6): 600-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26492578
6.
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Am J Hum Genet
; 90(1): 102-9, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22177090
7.
Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
Hum Mol Genet
; 21(R1): R111-24, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22843501
8.
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Mol Genet Genomic Med
; 9(9): e1759, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327855
9.
[Detection of mutations causing Duchenne and Becker muscular dystrophies: multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification]. / Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa Multiplex vs. Amplificación múltiple dependiente de ligación por sondas.
Rev Peru Med Exp Salud Publica
; 36(3): 475-480, 2019.
Artigo
em Espanhol
| MEDLINE | ID: mdl-31800942
10.
Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent.
J Glaucoma
; 17(1): 67-72, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18303389
11.
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation.
J Parkinsons Dis
; 8(3): 399-403, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29966207
12.
Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.
Neurology
; 88(6): 533-542, 2017 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28077491
13.
Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
Invest Ophthalmol Vis Sci
; 54(7): 4683-90, 2013 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-23788369
14.
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
PLoS One
; 8(1): e51622, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23308101
15.
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Arch Ophthalmol
; 130(11): 1425-32, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143442
16.
IQCB1 mutations in patients with leber congenital amaurosis.
Invest Ophthalmol Vis Sci
; 52(2): 834-9, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20881296
17.
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Nat Genet
; 42(10): 840-50, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20835237
18.
Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12.
Genet Mol Biol
; 32(4): 720-2, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21637444
19.
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Nat Genet
; 41(6): 739-45, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19430481
20.
Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12
Genet. mol. biol
; 32(4): 720-722, 2009. ilus, tab
Artigo
em Inglês
| LILACS | ID: lil-531794