Detalhe da pesquisa
1.
Protein nanobarcodes enable single-step multiplexed fluorescence imaging.
PLoS Biol
; 21(12): e3002427, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38079451
2.
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.
Br J Dermatol
; 189(6): 741-749, 2023 11 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37671665
3.
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Am J Hum Genet
; 99(6): 1292-1304, 2016 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27866708
4.
Uncombable hair syndrome: Burdensome or captivating?
Clin Exp Dermatol
; 2024 Apr 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38641557
5.
A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family.
Clin Exp Dermatol
; 48(4): 434-437, 2023 03 22.
Artigo
Inglês
| MEDLINE | ID: mdl-36750324
6.
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Am J Hum Genet
; 94(1): 135-43, 2014 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-24387993
7.
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
Exp Dermatol
; 26(6): 536-541, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27306922
8.
Investigation of the role of TCF4 rare sequence variants in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 168B(5): 354-62, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26010163
9.
Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.
Acta Derm Venereol
; 97(7): 862-863, 2017 Jul 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28350042
10.
Translational impact of omics studies in alopecia areata: recent advances and future perspectives.
Expert Rev Clin Immunol
; 18(8): 845-857, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35770930
11.
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
JAMA Dermatol
; 158(11): 1245-1253, 2022 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36044230
12.
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
PLoS One
; 14(12): e0225943, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31790498
13.
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
J Clin Invest
; 127(4): 1485-1490, 2017 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28287404
14.
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.
J Invest Dermatol
; 139(4): 960-964, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30414910
15.
Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients.
Schizophr Res
; 127(1-3): 35-40, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21288692
16.
Sequential growth factor delivery from complexed microspheres for bone tissue engineering.
Biomaterials
; 29(31): 4195-204, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18691753