Detalhe da pesquisa
1.
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Genet Res (Camb)
; 2023: 9999660, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37829154
2.
A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.
J Gene Med
; 21(9): e3113, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31310406
3.
Cellular therapy in combination with cytokines improves survival in a xenograft mouse model of ovarian cancer.
Mol Cell Biochem
; 407(1-2): 281-7, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26048718
4.
A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
Pediatr Dermatol
; 27(1): 106-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20199431
5.
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.
Eur J Hum Genet
; 24(8): 1223-7, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26695873
6.
A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.
PLoS One
; 10(6): e0129811, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26115030
7.
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.
Arch Dermatol Res
; 301(8): 625-9, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19551394