Detalhe da pesquisa
1.
Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.
Proc Natl Acad Sci U S A;
121(18): e2310283121, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38669183
2.
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
Am J Hum Genet;
109(2): 270-281, 2022 02 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35063063
3.
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.
J Med Genet;
2024 May 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38724173
4.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Am J Hum Genet;
108(2): 337-345, 2021 02 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33434492
5.
Exploring the association between congenital vertebral malformations and neural tube defects.
J Med Genet;
60(12): 1146-1152, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37775263
6.
Artificially Intelligent Three-Dimensionally-Printed Patient-Specific Instrument Improves Total Hip Arthroplasty Accuracy.
J Arthroplasty;
38(10): 2060-2067.e1, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36535443
7.
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Genet Med;
24(11): 2262-2273, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36112137
8.
A genotype-first analysis in a cohort of Mullerian anomaly.
J Hum Genet;
67(6): 347-352, 2022 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35022528
9.
Survey of the demand for care services for older people and the training needs of their care workers: a cross-sectional study in Northeast China.
BMC Nurs;
21(1): 25, 2022 Jan 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35042481
10.
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.
Hum Mol Genet;
28(4): 539-547, 2019 02 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30307510
11.
Bone mesenchymal stem cells stimulation by magnetic nanoparticles and a static magnetic field: release of exosomal miR-1260a improves osteogenesis and angiogenesis.
J Nanobiotechnology;
19(1): 209, 2021 Jul 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34256779
12.
Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
J Med Genet;
57(6): 371-379, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31888956
13.
Factors and predictive model associated with perioperative complications after long fusion in the treatment of adult non-degenerative scoliosis.
BMC Musculoskelet Disord;
22(1): 483, 2021 May 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34034738
14.
Mid-Term Outcome of Total Hip Arthroplasty in Patients With Progressive Pseudorheumatoid Dysplasia.
J Clin Rheumatol;
27(4): 156-160, 2021 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31876842
15.
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Hum Mutat;
41(1): 182-195, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31471994
16.
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
J Cell Mol Med;
24(9): 4931-4943, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32277576
17.
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.
Kidney Int;
98(4): 1020-1030, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32450157
18.
A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
BMC Med Genet;
21(1): 115, 2020 05 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32460719
19.
Identification of novel FBN1 variations implicated in congenital scoliosis.
J Hum Genet;
65(3): 221-230, 2020 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31827250
20.
Enhanced osteogenic differentiation of human bone-derived mesenchymal stem cells in 3-dimensional printed porous titanium scaffolds by static magnetic field through up-regulating Smad4.
FASEB J;
33(5): 6069-6081, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30763124