Detalhe da pesquisa
1.
Identification of a de novo PUF60 variant associated with craniofacial microsomia.
Am J Med Genet A
; : e63631, 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38647383
2.
Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.
Am J Med Genet A
; 191(10): 2493-2507, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37282829
3.
Craniofacial Microsomia: New Updates in Spinal Anomalies.
J Craniofac Surg
; 34(4): e398-e401, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37126414
4.
Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum.
Orthod Craniofac Res
; 24(4): 575-584, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33713375
5.
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
6.
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
7.
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
8.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Am J Hum Genet
; 93(6): 1118-25, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268655
9.
Auriculo-condylar syndrome. Confronting a diagnostic challenge.
Am J Med Genet A
; 158A(1): 59-65, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22105959
10.
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
Am J Med Genet A
; 158A(8): 2003-8, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22740433
11.
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
12.
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.
J Pediatr Genet
; 9(4): 258-262, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32765930
13.
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
14.
Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?
Am J Med Genet A
; 149A(12): 2762-4, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19921636
15.
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
16.
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
Eur J Hum Genet
; 26(2): 210-219, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29348693
17.
Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings.
J Pediatr Genet
; 6(2): 103-106, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28496998
18.
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
19.
An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases.
Clin Dysmorphol
; 24(4): 144-50, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25816358
20.
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