Detalhe da pesquisa
1.
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
2.
TP63-related disorders: two case reports and a brief review of the literature.
Dermatol Online J
; 27(11)2021 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35130400
3.
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
4.
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
5.
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
em Inglês
| MEDLINE | ID: mdl-24387993
6.
Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome.
J Inherit Metab Dis
; 40(3): 461-462, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27832414
7.
A woman with hyperpigmented macules and papules.
J Dtsch Dermatol Ges
; 19(11): 1656-1660, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34751497
8.
Eine Frau mit hyperpigmentierten Maculae und Papeln.
J Dtsch Dermatol Ges
; 19(11): 1655-1659, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34811908
9.
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Am J Med Genet A
; 167A(11): 2555-62, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26129644
10.
Advances in metabolic engineering of Corynebacterium glutamicum to produce high-value active ingredients for food, feed, human health, and well-being.
Essays Biochem
; 65(2): 197-212, 2021 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34096577
11.
UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan.
J Dermatol Sci
; 95(3): 113-118, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31421932
12.
Release from natural enemies mitigates inbreeding depression in native and invasive Silene latifolia populations.
Ecol Evol
; 9(6): 3564-3576, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30962911
13.
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
PLoS One
; 14(12): e0225943, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31790498
14.
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
em Inglês
| MEDLINE | ID: mdl-28287404
15.
Hair loss, facial dysmorphology, and skeletal alterations - a diagnostic challenge.
Int J Dermatol
; 60(10): e419-e421, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34152005
16.
Investigation of four novel male androgenetic alopecia susceptibility loci: no association with female pattern hair loss.
Arch Dermatol Res
; 306(4): 413-8, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24352509
17.
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
em Inglês
| MEDLINE | ID: mdl-30414910
18.
Paediatric reference values for the C-terminal fragment of fibroblast-growth factor-23, sclerostin, bone-specific alkaline phosphatase and isoform 5b of tartrate-resistant acid phosphatase.
Ann Clin Biochem
; 49(Pt 6): 546-53, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22984195
19.
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
J Invest Dermatol
; 135(2): 615-618, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25229252
20.
Immunochip-based analysis: high-density genotyping of immune-related loci sheds further light on the autoimmune genetic architecture of alopecia areata.
J Invest Dermatol
; 135(3): 919-921, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25337690