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.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Hum Mol Genet
; 32(19): 2913-2928, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462524
3.
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
4.
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
5.
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Brain
; 146(8): 3347-3363, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869767
6.
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
7.
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation.
Hum Genet
; 142(1): 89-101, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36098810
8.
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
9.
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
10.
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Am J Med Genet A
; 188(12): 3469-3481, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161696
11.
The utility of hierarchical genetic testing in paediatric liver disease.
Liver Int
; 42(5): 1097-1108, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35257483
12.
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
13.
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
BMC Musculoskelet Disord
; 21(1): 220, 2020 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32278351
14.
Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines.
Orphanet J Rare Dis
; 19(1): 194, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741208
15.
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Cell Rep Methods
; 4(1): 100687, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38211594
16.
Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.
J Clin Invest
; 134(2)2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962965
17.
The effect of pedicle screw instrumentation at a young age on upper thoracic vertebra and canal development.
Spine J
; 23(9): 1358-1364, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37209967
18.
Clinical outcomes of the traditional dual growing rod technique combined with apical pedicle screws in the treatment of early-onset scoliosis: preliminary results from a single center.
J Neurosurg Pediatr
; 31(4): 358-368, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36738463
19.
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis.
JAMA Pediatr
; 177(11): 1149-1157, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695591
20.
Retrospective Analysis of Associated Anomalies in 636 Patients with Operatively Treated Congenital Scoliosis.
J Bone Joint Surg Am
; 105(7): 537-548, 2023 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37017616