Detalhe da pesquisa
1.
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
PLoS Genet
; 14(12): e1007866, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586382
2.
Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/ß-catenin signaling.
Hum Mol Genet
; 23(4): 1073-83, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24135036
3.
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
PLoS Genet
; 7(7): e1002114, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750680
4.
Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts.
Biochim Biophys Acta
; 1812(7): 711-8, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21419220
5.
A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance.
Clin Dysmorphol
; 16(3): 157-161, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17551328
6.
Classical lissencephaly associated with dolichocephaly, hair and nail defect.
Brain Dev
; 28(6): 392-4, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16376045
7.
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Am J Hum Genet
; 71(2): 426-31, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12075506
8.
Hyperpigmented patch associated to heterochromia iridis.
Pediatr Dermatol
; 22(6): 572; author reply 572, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16354268
9.
Wiedemann-Rautenstrauch or trichorhinophalangeal syndrome?
Pediatr Dermatol
; 22(6): 573; author reply 573-4, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16354270
10.
Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome.
Am J Med Genet A
; 128A(4): 436-8, 2004 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15264295