Detalhe da pesquisa
1.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet
; 107(1): 34-45, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497488
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
em Inglês
| MEDLINE | ID: mdl-37671665
3.
Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis.
Pediatr Dermatol
; 40(3): 466-467, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37012647
4.
Selected genodermatoses - Status quo and future prospects.
J Dtsch Dermatol Ges
; 21(4): 337-341, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36976174
5.
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.
Hum Mutat
; 43(3): 420-433, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34979047
6.
Variant PADI3 in Central Centrifugal Cicatricial Alopecia.
N Engl J Med
; 380(9): 833-841, 2019 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30763140
7.
A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.
Clin Exp Dermatol
; 47(7): 1424-1426, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35574671
8.
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Am J Hum Genet
; 103(5): 777-785, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401459
9.
The Alopecia Areata Consensus of Experts (ACE) study part II: Results of an international expert opinion on diagnosis and laboratory evaluation for alopecia areata.
J Am Acad Dermatol
; 84(6): 1594-1601, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926985
10.
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
Genet Med
; 22(7): 1227-1234, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32336749
11.
The Alopecia Areata Consensus of Experts (ACE) study: Results of an international expert opinion on treatments for alopecia areata.
J Am Acad Dermatol
; 83(1): 123-130, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165196
12.
Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.
Acta Derm Venereol
; 100(16): adv00275, 2020 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926178
13.
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
Am J Hum Genet
; 99(2): 337-51, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27476653
14.
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
em Inglês
| MEDLINE | ID: mdl-27866708
15.
Uncombable hair syndrome: Burdensome or captivating?
Clin Exp Dermatol
; 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641557
16.
A girl with unruly locks: molecular genetics makes a diagnosis of uncombable hair syndrome.
Lancet
; 399(10329): 1079, 2022 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279260
17.
Altered Notch signalling in Dowling-Degos disease: a transcriptomic insight into disease pathogenesis.
Br J Dermatol
; 189(6): 772-774, 2023 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37625796
18.
A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family.
Clin Exp Dermatol
; 48(4): 434-437, 2023 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36750324
19.
Ausgewählte Genodermatosen - Stand der Dinge und Zukunftsaussichten.
J Dtsch Dermatol Ges
; 21(4): 337-342, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37070517
20.
POGLUT1-Varianten bei Morbus Dowling-Degos - Assoziation mit spezifischen klinischen und histopathologischen Merkmalen?
J Dtsch Dermatol Ges
; 21(5): 540-541, 2023 05.
Artigo
em Alemão
| MEDLINE | ID: mdl-37183756