Detalhe da pesquisa
1.
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Acta Derm Venereol
; 96(4): 473-8, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26581228
2.
Lactotransferrin Gene Polymorphism Associated with Caries Experience.
Caries Res
; 49(4): 370-7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25998152
3.
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
Neurogenetics
; 13(1): 73-6, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290197
4.
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Neurogenetics
; 13(3): 215-27, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22552817
5.
Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris.
Acta Derm Venereol
; 96(7): 989-990, 2016 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27140437
6.
Large deletions in the NSDHL gene in two patients with CHILD syndrome.
Acta Derm Venereol
; 95(8): 1007-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26014843
7.
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome.
JAMA Dermatol
; 151(1): 64-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25210931
8.
Lactotransferrin Gene (LTF) Polymorphisms and Dental Implant Loss: A Case-Control Association Study.
Clin Implant Dent Relat Res
; 17 Suppl 2: e550-61, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25535701
9.
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia.
Mol Genet Genomic Med
; 2(5): 379-82, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25333062
10.
A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.
Clin Dysmorphol
; 24(3): 115-7, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25563821
11.
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
Eur J Hum Genet
; 18(9): 1065-7, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20461110