Detalhe da pesquisa
1.
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
J Hum Genet
; 68(4): 273-279, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599954
2.
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Am J Med Genet A
; 188(6): 1752-1760, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35212137
3.
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Br J Dermatol
; 187(6): 948-961, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986704
4.
Cutibacterium acnes: Much ado about maybe nothing much.
Exp Dermatol
; 30(10): 1471-1476, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34009698
5.
Teledermatology in Primary Care in Singapore: Experiences of Family Doctors and Specialists.
Acta Derm Venereol
; 101(9): adv00540, 2021 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043017
6.
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
Hum Mol Genet
; 27(16): 2775-2788, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29741626
7.
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
Exp Dermatol
; 28(10): 1106-1113, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29570224
8.
Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling.
Am J Med Genet A
; 179(8): 1652-1664, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31218820
9.
Making the invisible visible.
Semin Cell Dev Biol
; 52: 58-65, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26877141
10.
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
Hum Mutat
; 38(4): 343-356, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28035777
11.
Review of familial cerebral cavernous malformations and report of seven additional families.
Am J Med Genet A
; 173(2): 338-351, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27792856
12.
Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis.
BMC Dev Biol
; 16(1): 23, 2016 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27391801
13.
The effect of topical diclofenac 3% and calcitriol 3 µg/g on superficial basal cell carcinoma (sBCC) and nodular basal cell carcinoma (nBCC): A phase II, randomized controlled trial.
J Am Acad Dermatol
; 75(1): 126-34, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27067393
14.
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Nat Genet
; 39(5): 650-4, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17417636
15.
Birt-Hogg-Dube syndrome is a novel ciliopathy.
Hum Mol Genet
; 22(21): 4383-97, 2013 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23784378
16.
Familial pityriasis rubra pilaris is caused by mutations in CARD14.
Am J Hum Genet
; 91(1): 163-70, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22703878
17.
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.
Mol Genet Metab
; 114(1): 51-4, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25468645
18.
Novel TGM5 mutations in acral peeling skin syndrome.
Exp Dermatol
; 24(4): 285-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25644735
19.
Genetics and epigenetics of cutaneous malignant melanoma: a concert out of tune.
Biochim Biophys Acta
; 1826(1): 89-102, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22503822
20.
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.
Hum Mol Genet
; 20(21): 4175-86, 2011 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21831885