Detalhe da pesquisa
1.
Surgical treatment of osteogenesis imperfecta: a summary of the incidence of femoral implant-related complications in children with Sillence type I, III and IV.
Int Orthop
; 48(6): 1645-1655, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386087
2.
Which is the best femoral implant in children with osteogenesis imperfecta? a retrospective cohort study of 783 procedures.
BMC Musculoskelet Disord
; 24(1): 110, 2023 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36759791
3.
[Identification of pathogenic variants in three Chinese patients with McCune-Albright syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(2): 186-190, 2023 Feb 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36709938
4.
Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta.
J Bone Miner Metab
; 38(2): 188-197, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31414283
5.
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.
Hum Mutat
; 40(5): 588-600, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715774
6.
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
Mol Pain
; 14: 1744806918781140, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29770739
7.
[Genetic mutation and clinical features of osteogenesis imperfecta type V].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(6): 797-801, 2017 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-29188603
8.
[Analysis of gross deletions of COL1A1/2 genes in Chinese families affected with osteogenesis imperfecta].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(4): 431-4, 2016 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-27454992
9.
[Analysis of type IV osteogenesis imperfecta caused by two mutations occurred simultaneously in COL1A1 gene in a Chinese child].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(2): 140-4, 2016 Apr.
Artigo
em Zh
| MEDLINE | ID: mdl-27060301
10.
[Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta].
Zhonghua Yi Xue Za Zhi
; 95(43): 3484-9, 2015 Nov 17.
Artigo
em Zh
| MEDLINE | ID: mdl-26813269
11.
Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.
Clin Endocrinol (Oxf)
; 80(4): 524-31, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24147872
12.
[Screening and analysis of a new mutation of COL1A1 gene in a family with osteogenesis imperfecta].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 31(3): 344-7, 2014 Jun.
Artigo
em Zh
| MEDLINE | ID: mdl-24928016
13.
The patient-related factors in revision procedures on tibia of patients with osteogenesis imperfecta treated with the Peter-Williams nail.
J Orthop Surg Res
; 18(1): 532, 2023 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37496046
14.
CRISPR/Cas9 correction of a dominant cis-double-variant in COL1A1 isolated from a patient with osteogenesis imperfecta increases the osteogenic capacity of induced pluripotent stem cells.
J Bone Miner Res
; 38(5): 719-732, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36734182
15.
Incidence and prevalence of 121 rare diseases in China: Current status and challenges: 2022 revision.
Intractable Rare Dis Res
; 11(3): 96-104, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200031
16.
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.
BMC Med Genomics
; 15(1): 161, 2022 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842615
17.
Current diagnosis and management of rare pediatric diseases in China.
Intractable Rare Dis Res
; 10(4): 223-237, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34877234
18.
Comprehensive bioinformatic analysis of Wnt1 and Wnt1-associated diseases.
Intractable Rare Dis Res
; 9(1): 14-22, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32201670
19.
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
Front Genet
; 11: 984, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33093841
20.
Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.
Intractable Rare Dis Res
; 8(2): 98-107, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31218159