Detalhe da pesquisa
1.
The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.
BMC Med
; 22(1): 40, 2024 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38281904
2.
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.
Am J Med Genet A
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38536952
3.
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
J Eur Acad Dermatol Venereol
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38595321
4.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clin Genet
; 104(5): 554-563, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580112
5.
The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score.
Acta Derm Venereol
; 103: adv5203, 2023 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646348
6.
Effectiveness of biologic therapies in children with palmoplantar plaque psoriasis: An analysis of real-life data from the BiPe cohorts.
Pediatr Dermatol
; 40(5): 835-840, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37442765
7.
A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.
Int J Mol Sci
; 24(8)2023 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37108325
8.
Biologics combined with conventional systemic agents for the treatment of children with severe psoriasis. Real-life data from the BiPe cohorts and a practice survey among French and Italian pediatric dermatologists.
Dermatol Ther
; 35(11): e15828, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36107157
9.
Crusted scabies in children in France: a series of 20 cases.
Eur J Pediatr
; 181(3): 1167-1174, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782946
10.
Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
Pediatr Dermatol
; 39(4): 590-593, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35304779
11.
Switching biologics in children with psoriasis: Results from the BiPe cohort.
Pediatr Dermatol
; 39(1): 35-41, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34888920
12.
The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions.
Int J Mol Sci
; 23(13)2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35806491
13.
Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.
Biochem Biophys Res Commun
; 530(3): 520-526, 2020 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620236
14.
Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome.
Pediatr Dermatol
; 37(3): 541-544, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32157705
15.
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
Cytogenet Genome Res
; 157(4): 189-196, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30974434
16.
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.
Genet Med
; 21(5): 1189-1198, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30270358
17.
P63-related disorders: Dermatological characteristics in 22 patients.
Exp Dermatol
; 28(10): 1190-1195, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585491
18.
ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
Exp Dermatol
; 28(10): 1142-1145, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29952037
19.
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Am J Med Genet A
; 179(3): 442-447, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30703280
20.
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.
J Am Acad Dermatol
; 80(3): 617-625, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287322