Detalhe da pesquisa
1.
sFRP2 in the aged microenvironment drives melanoma metastasis and therapy resistance.
Nature
; 532(7598): 250-4, 2016 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27042933
2.
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Am J Hum Genet
; 102(4): 696-705, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29606302
3.
Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome.
Am J Med Genet A
; 179(5): 797-802, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30793832
4.
Corrigendum: sFRP2 in the aged microenvironment drives melanoma metastasis and therapy resistance.
Nature
; 537(7619): 254, 2016 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27383789
5.
Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-ß expression and connective tissue features.
FASEB J
; 28(8): 3313-24, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24732132
6.
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.
J Vasc Surg
; 60(1): 160-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24650746
7.
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
FASEB J
; 26(2): 668-77, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22038052
8.
Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Hum Genet
; 131(12): 1889-94, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22886582
9.
Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
Clin Chem
; 58(2): 421-30, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22156666
10.
Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos syndrome.
J Pharmacol Exp Ther
; 337(3): 621-7, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21363928
11.
Circulating transforming growth factor-beta in Marfan syndrome.
Circulation
; 120(6): 526-32, 2009 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-19635970
12.
Contemporary management of vascular complications associated with Ehlers-Danlos syndrome.
J Vasc Surg
; 51(1): 131-8; discussion 138-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19879095
13.
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
Am J Med Genet A
; 149A(12): 2803-8, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19921645
14.
Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue.
J Neurosurg Spine
; 7(6): 601-9, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18074684
15.
Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.
J Clin Endocrinol Metab
; 100(8): E1143-52, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26075496
16.
Transforming growth factor-ß (TGF-ß) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome.
Eur J Med Genet
; 57(2-3): 95-102, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24380766
17.
Transforming growth factor-ß and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
Circ Cardiovasc Genet
; 7(1): 80-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24399159
18.
Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia.
J Mol Diagn
; 15(6): 745-53, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24071710
19.
Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
J Clin Endocrinol Metab
; 98(2): E379-87, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23284009
20.
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
J Clin Endocrinol Metab
; 96(1): E161-72, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20926536