Detalhe da pesquisa
1.
Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q.
BMC Pediatr
; 23(1): 586, 2023 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993819
2.
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
Hum Mol Genet
; 29(3): 444-458, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915829
3.
Eye-Preserving Therapies for Advanced Retinoblastoma: A Multicenter Cohort of 1678 Patients in China.
Ophthalmology
; 129(2): 209-219, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34536465
4.
Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population.
BMC Ophthalmol
; 22(1): 129, 2022 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35305607
5.
New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.
BMC Ophthalmol
; 22(1): 386, 2022 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36162988
6.
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
J Transl Med
; 16(1): 145, 2018 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29843741
7.
CEP78 is mutated in a distinct type of Usher syndrome.
J Med Genet
; 54(3): 190-195, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27627988
8.
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.
Genet Med
; 19(8): 945-954, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125083
9.
PRPF4 mutations cause autosomal dominant retinitis pigmentosa.
Hum Mol Genet
; 23(11): 2926-39, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24419317
10.
Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia.
J Transl Med
; 13: 179, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26040324
11.
[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa].
Zhonghua Yan Ke Za Zhi
; 50(6): 434-9, 2014 Jun.
Artigo
em Zh
| MEDLINE | ID: mdl-25241976
12.
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.
BMC Med Genomics
; 16(1): 84, 2023 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37085840
13.
Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
BMC Med Genomics
; 16(1): 223, 2023 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37749571
14.
Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance.
Front Genet
; 14: 1157156, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38028590
15.
Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma.
Front Genet
; 14: 1276227, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38343445
16.
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
Mol Genet Genomic Med
; 11(1): e2095, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36378562
17.
Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia.
Front Genet
; 14: 1107347, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36777721
18.
De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family.
Int J Ophthalmol
; 16(12): 1952-1961, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38111929
19.
Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.
Elife
; 122023 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36756949
20.
Association of insulin-like growth factor-1 polymorphisms with high myopia in the Chinese population.
Mol Vis
; 18: 634-44, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22509095