Detalhe da pesquisa
1.
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.
Hum Mol Genet
; 26(12): 2177-2191, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334780
2.
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.
Am J Med Genet A
; 179(11): 2170-2177, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353810
3.
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
Am J Hum Genet
; 94(1): 120-8, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360810
4.
Mandibulofacial dysostosis Bauru type: Refining the phenotype.
Am J Med Genet A
; 173(7): 1747-1753, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28558149
5.
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Am J Med Genet A
; 173(4): 938-945, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328130
6.
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Hum Mol Genet
; 22(8): 1654-62, 2013 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335590
7.
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
Bone
; 153: 116152, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400385
8.
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
J Clin Endocrinol Metab
; 105(5)2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034419
9.
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome.
Clin Dysmorphol
; 32(1): 21-24, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36503920
10.
Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.
Front Genet
; 9: 149, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29922329
11.
Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.
Mol Syndromol
; 7(6): 344-348, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27920638
12.
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
Eur J Hum Genet
; 23(4): 481-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25026904