Detalhe da pesquisa
1.
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
J Med Genet
; 61(4): 347-355, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979963
2.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
J Med Genet
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458752
3.
A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.
Hum Mol Genet
; 29(9): 1417-1425, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32167558
4.
Efficacy and safety of a novel mucoadhesive clobetasol patch for treatment of erosive oral lichen planus: A phase 2 randomized clinical trial.
J Oral Pathol Med
; 51(1): 86-97, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34907617
5.
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.
Hum Mutat
; 42(5): 567-576, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600052
6.
Implementation of biopsychosocial supported self-management for chronic primary oro-facial pain including temporomandibular disorders: A theory, person and evidence-based approach.
J Oral Rehabil
; 48(10): 1118-1128, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273180
7.
A missense mutation of Leu74Pro of OGR1 found in familial amelogenesis imperfecta actually causes the loss of the pH-sensing mechanism.
Biochem Biophys Res Commun
; 526(4): 920-926, 2020 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279993
8.
New missense variants in RELT causing hypomineralised amelogenesis imperfecta.
Clin Genet
; 97(5): 688-695, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32052416
9.
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.
Hum Mol Genet
; 26(10): 1863-1876, 2017 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334996
10.
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
Am J Hum Genet
; 99(4): 984-990, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693231
11.
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.
Oral Dis
; 25(1): 182-191, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30095208
12.
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.
Hum Mol Genet
; 25(16): 3578-3587, 2016 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412008
13.
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Am J Hum Genet
; 97(4): 535-45, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387595
14.
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
Hum Mol Genet
; 23(8): 2189-97, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319098
15.
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.
Hum Mol Genet
; 23(20): 5317-24, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24858907
16.
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
Am J Hum Genet
; 92(2): 307-12, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23375655
17.
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
Am J Hum Genet
; 91(3): 565-71, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22901946
18.
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
BMC Med Genet
; 16: 8, 2015 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25928877
19.
Review of 1.75 million referrals over 34 months identifies the disruptive impact of the SARS-CoV-2 pandemic on oral surgery care in England: a service evaluation.
Br Dent J
; 2023 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36801960
20.
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
Am J Hum Genet
; 85(5): 699-705, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19853237