Detalhe da pesquisa
1.
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clin Genet
; 2024 Feb 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38424388
2.
Clinical versus molecular diagnosis of Gorlin syndrome: Relevance of diagnostic criteria depends on the age of patients.
Clin Exp Dermatol
; 2024 May 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38768301
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
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
Inglês
| MEDLINE | ID: mdl-37580112
5.
Accurate diagnosis of acute hemorrhagic edema of infancy: a French multicenter observational study.
Eur J Pediatr
; 182(9): 4133-4141, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37432503
6.
Burden of caregivers and out-of-pocket expenditures related to epidermolysis bullosa in France.
J Eur Acad Dermatol Venereol
; 37(1): 194-203, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-35994204
7.
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses.
J Allergy Clin Immunol
; 149(4): 1358-1372, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34543653
8.
CXCR4 Antagonist in HPV5-Associated Perianal Squamous-Cell Carcinoma.
N Engl J Med
; 390(14): 1339-1341, 2024 Apr 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38598804
9.
Folliculitis decalvans and dystrophic epidermolysis bullosa: a significant association.
Br J Dermatol
; 187(6): 1026-1028, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35904062
10.
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Genet Med
; 23(9): 1604-1615, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34040193
11.
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.
Acta Derm Venereol
; 101(2): adv00397, 2021 Feb 16.
Artigo
Inglês
| MEDLINE | ID: mdl-33491095
12.
Transient abdominal telangiectasia of the newborn.
Pediatr Dermatol
; 38(4): 864-867, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-34152036
13.
NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.
J Allergy Clin Immunol
; 145(4): 1254-1261, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31816408
14.
Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.
Rheumatology (Oxford)
; 59(8): 1927-1937, 2020 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31755959
15.
Genetics of Inherited Ichthyoses and Related Diseases.
Acta Derm Venereol
; 100(7): adv00096, 2020 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-32147747
16.
Cutaneous lipomas and macrocephaly as early signs of PTEN hamartoma tumor syndrome.
Pediatr Dermatol
; 37(5): 839-843, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32657433
17.
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Hum Mutat
; 40(12): 2318-2333, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31347739
18.
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Br J Haematol
; 187(4): 530-542, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31338833
19.
Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome.
Exp Dermatol
; 28(10): 1114-1117, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28603914
20.
Infliximab Paradoxical Psoriasis in a Cohort of Children With Inflammatory Bowel Disease.
J Pediatr Gastroenterol Nutr
; 69(2): 189-193, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30921262