Detalhe da pesquisa
1.
Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient.
Mutagenesis
; 31(1): 61-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220009
2.
Novel nonsense mutation in MSX1 in familial nonsyndromic oligodontia: subcellular localization and role of homeodomain/MH4.
Eur J Oral Sci
; 122(1): 15-20, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24329876
3.
Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.
Hum Genome Var
; 10(1): 3, 2023 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36702846
4.
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.
Hum Genome Var
; 8(1): 29, 2021 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34285200
5.
A novel LRP6 variant in a Japanese family with oligodontia.
Hum Genome Var
; 8(1): 30, 2021 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34285199
6.
WNT10A variants isolated from Japanese patients with congenital tooth agenesis.
Hum Genome Var
; 4: 17047, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29367877
7.
An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.
PLoS One
; 10(6): e0128227, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26030286
8.
Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis.
PLoS One
; 9(8): e102944, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25101640
9.
Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.
Eur J Hum Genet
; 19(8): 844-50, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21448236