Detalhe da pesquisa
1.
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.
Am J Hum Genet
; 93(5): 926-31, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24183449
2.
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Am J Med Genet A
; 170(10): 2652-61, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27240702
3.
Recommendations of the 2006 Human Variome Project meeting.
Nat Genet
; 39(4): 433-6, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17392799
4.
Exome sequencing identifies PDE4D mutations in acrodysostosis.
Am J Hum Genet
; 90(4): 746-51, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22464252
5.
Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism.
J Pharmacol Exp Ther
; 353(1): 132-49, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25650377
6.
Mutations in the TGFß binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Am J Hum Genet
; 89(1): 7-14, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21683322
7.
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
Am J Hum Genet
; 89(6): 767-72, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152678
8.
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
Nat Med
; 13(11): 1363-7, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17952091
9.
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
Am J Hum Genet
; 87(4): 532-7, 2010 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20869035
10.
Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetuses.
Radiology
; 267(2): 570-80, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23392423
11.
Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder.
Am J Med Genet A
; 161A(6): 1442-6, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633393
12.
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
Nat Genet
; 36(4): 405-10, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-14991055
13.
Human Variome Project country nodes: documenting genetic information within a country.
Hum Mutat
; 33(11): 1513-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753370
14.
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
Am J Hum Genet
; 84(1): 72-9, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19110214
15.
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Am J Hum Genet
; 84(3): 307-15, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19232556
16.
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
Am J Hum Genet
; 84(4): 542-9, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19361615
17.
Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.
Am J Med Genet A
; 158A(8): 1897-901, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22740120
18.
Mutation (variation) databases and registries: a rationale for coordination of efforts.
Nat Rev Genet
; 12(12): 881; discussion 881, 2011 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-22025002
19.
MR imaging of the fetal musculoskeletal system.
Prenat Diagn
; 32(3): 205-13, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22430716
20.
Male genital abnormalities in intrauterine growth restriction.
Prenat Diagn
; 32(5): 427-31, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22495637