Detalhe da pesquisa
1.
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.
Int J Mol Sci
; 25(5)2024 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38473917
2.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Genet Med
; 24(12): 2475-2486, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36197437
3.
LEF1 haploinsufficiency causes ectodermal dysplasia.
Clin Genet
; 97(4): 595-600, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022899
4.
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Hum Mol Genet
; 24(11): 3038-49, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25669657
5.
Oral status in patients with inherited epidermolysis bullosa: A multicentric observational study.
J Am Acad Dermatol
; 87(4): 872-874, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34838879
6.
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
J Med Genet
; 53(2): 98-110, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26502894
7.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res
; 42(Database issue): D966-74, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24217912
8.
Necrotizing Periodontal Diseases in Children: A Literature Review and Adjustment of Treatment.
J Trop Pediatr
; 62(4): 331-7, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26966241
9.
Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.
Am J Med Genet A
; 167A(10): 2451-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26080100
10.
Direct Microscopy: A Useful Tool to Diagnose Oral Candidiasis in Children and Adolescents.
Mycopathologia
; 180(5-6): 373-7, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26329143
11.
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Am J Med Genet A
; 161A(4): 671-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401279
12.
Association between malocclusions and amelogenesis imperfecta genotype and phenotype: A systematic review.
Int Orthod
; 21(4): 100789, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37494776
13.
Oral health status in patients with inherited epidermolysis bullosa: a comparative multicenter study.
Quintessence Int
; 54(1): 34-43, 2023 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36268944
14.
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Nephron Physiol
; 122(1-2): 1-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23434854
15.
Recurrent Aphthous Stomatitis As a Marker of Celiac Disease in Children.
Pediatr Dermatol
; 33(2): 241, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27001329
16.
Dentine disorders and adhesive treatments: A systematic review.
J Dent
; 109: 103654, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798638
17.
From Child to Adulthood, a Multidisciplinary Approach of Multiple Microdontia Associated with Hypodontia: Case Report Relating a 15 Year-Long Management and Follow-Up.
Healthcare (Basel)
; 9(9)2021 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34574954
18.
Morbidity and Mortality Review in a University Dental Hospital: A Necessary Tool to Improve Quality of Care.
Eur J Dent
; 15(2): 307-311, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33412606
19.
Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.
Am J Med Genet A
; 152A(1): 111-7, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20034071
20.
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.
Int J Paediatr Dent
; 20(4): 305-12, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20536592