Detalhe da pesquisa
1.
Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomelia.
Proc Natl Acad Sci U S A
; 120(1): e2208623119, 2023 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36584300
2.
SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms.
Proc Natl Acad Sci U S A
; 119(46): e2122121119, 2022 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36343245
3.
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
Prenat Diagn
; 44(4): 465-479, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38441167
4.
ß1 Integrin regulates convergent extension in mouse notogenesis, ensures notochord integrity and the morphogenesis of vertebrae and intervertebral discs.
Development
; 147(22)2020 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051257
5.
Behavioral characteristics associated with 19p13.2 microdeletions.
Am J Med Genet A
; 167A(10): 2334-43, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26189583
6.
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
Am J Med Genet A
; 167A(9): 2052-64, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097203
7.
SOX9 governs differentiation stage-specific gene expression in growth plate chondrocytes via direct concomitant transactivation and repression.
PLoS Genet
; 7(11): e1002356, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072985
8.
Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation.
Eur J Hum Genet
; 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38806663
9.
Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)-a study protocol.
BMJ Open
; 14(5): e085237, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760043
10.
Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study.
Lancet Psychiatry
; 9(9): 715-724, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35932790
11.
Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service.
NIHR Open Res
; 2: 10, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35935673
12.
Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol.
NIHR Open Res
; 1: 23, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35098132
13.
Transformation of resident notochord-descendent nucleus pulposus cells in mouse injury-induced fibrotic intervertebral discs.
Aging Cell
; 19(11): e13254, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33084203
14.
Children with sex chromosome trisomies: parental disclosure of genetic status.
Eur J Hum Genet
; 24(5): 638-44, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26306644
15.
SOX9 induces and maintains neural stem cells.
Nat Neurosci
; 13(10): 1181-9, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20871603
16.
SOX9 elevation in the prostate promotes proliferation and cooperates with PTEN loss to drive tumor formation.
Cancer Res
; 70(3): 979-87, 2010 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20103652
17.
The neuroprotective effects of heat shock protein 27 overexpression in transgenic animals against kainate-induced seizures and hippocampal cell death.
J Biol Chem
; 278(22): 19956-65, 2003 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12639970