Detalhe da pesquisa
1.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Am J Hum Genet
; 101(6): 985-994, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198724
2.
Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.
J Biol Chem
; 285(43): 33567-33576, 2010 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-20729548
3.
Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia.
Am J Hum Genet
; 82(3): 786-93, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18304492
4.
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Genes (Basel)
; 12(4)2021 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33924034
5.
Reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix.
J Biol Chem
; 284(41): 28204-28211, 2009 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-19696018
6.
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
Ann Neurol
; 64(3): 294-303, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18825676
7.
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Ann Neurol
; 62(4): 390-405, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17886299
8.
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.
Neuromuscul Disord
; 17(7): 547-57, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17537636
9.
Co-option of the cardiac transcription factor Nkx2.5 during development of the emu wing.
Nat Commun
; 8(1): 132, 2017 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28743862
10.
Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.
Mol Syndromol
; 7(6): 312-321, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27920634
11.
Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies.
Mol Syndromol
; 7(6): 322-328, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27920635
12.
Olfr603, an orphan olfactory receptor, is expressed in multiple specific embryonic tissues.
Gene Expr Patterns
; 19(1-2): 30-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26116001
13.
Secretion and assembly of type IV and VI collagens depend on glycosylation of hydroxylysines.
J Biol Chem
; 282(46): 33381-33388, 2007 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-17873278
14.
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Hum Mol Genet
; 14(2): 279-93, 2005 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15563506