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.
Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
Prenat Diagn
; 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38862389
3.
[Genetic analysis of a case with Al Kaissi syndrome and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 193-198, 2024 Feb 10.
Artigo
em Zh
| MEDLINE | ID: mdl-38311558
4.
The uncertainty of copy number variants: pregnancy decisions and clinical follow-up.
Am J Obstet Gynecol
; 229(2): 170.e1-170.e8, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36716986
5.
A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?
J Transl Med
; 20(1): 269, 2022 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35706031
6.
[Prenatal diagnosis of partial deletion of NRXN1 gene with combined CNV-seq and qPCR assays].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(11): 1200-1204, 2022 Nov 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36317203
7.
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 331-9, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22325362
8.
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.
Genet Med
; 17(4): 262-70, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25474345
9.
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Hum Genet
; 133(3): 331-45, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24154662
10.
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
J Med Genet
; 50(10): 674-88, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23847139
11.
Molecular findings in patients for whole exome sequencing and mitochondrial genome assessment.
Clin Chim Acta
; : 119774, 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38852791
12.
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Orphanet J Rare Dis
; 19(1): 160, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609989
13.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Hum Mutat
; 34(11): 1537-1546, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23946133
14.
Estimate of genetic variants using CNV-Seq for fetuses with oligohydramnios or polyhydramnios.
Mol Genet Genomic Med
; 11(1): e2089, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36398477
15.
Recombinant expression, activity screening and functional characterization identifies three novel endo-1,4-ß-glucanases that efficiently hydrolyse cellulosic substrates.
Appl Microbiol Biotechnol
; 93(1): 203-14, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21710260
16.
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.
J Med Genet
; 48(9): 593-6, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21862673
17.
The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.
Invest Ophthalmol Vis Sci
; 58(2): 1028-1036, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28192794
18.
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Invest Ophthalmol Vis Sci
; 56(13): 8297-305, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26720483
19.
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
Invest Ophthalmol Vis Sci
; 56(13): 8158-65, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26720468
20.
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
Mol Genet Genomic Med
; 3(1): 14-29, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25629076