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Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

British journal of dermatology (1951), 2019-11, Vol.181 (5), p.1070-1072

2019

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Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment

British journal of dermatology (1951), 2019-02, Vol.180 (2), p.357-364

2019

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Mosaic mutations in FGFR3 and FGFR2 are associated with naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus)

British journal of dermatology (1951), 2019-01, Vol.180 (1), p.201-202

2019

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Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

British journal of dermatology (1951), 2019-06, Vol.180 (6), p.1438-1448

2019

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Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma

Journal of the European Academy of Dermatology and Venereology, 2023-06, Vol.37 (6), p.e801-e803

2023

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Lentiginosis and café‐au‐lait macules as part of the phenotypic spectrum of PAX3‐related disorders

Clinical and experimental dermatology, 2020-07, Vol.45 (5), p.621-623

2020

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Rare genetic diseases, signalling pathways, and keloid scar formation

British journal of dermatology (1951), 2014-09, Vol.171 (3), p.452-453

2014

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Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia

Journal of the European Academy of Dermatology and Venereology, 2019-12, Vol.33 (12), p.e458-e459

2019

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Management of albinism: French guidelines for diagnosis and care

Journal of the European Academy of Dermatology and Venereology, 2021-07, Vol.35 (7), p.1449-1459

2021

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Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism

Journal of the European Academy of Dermatology and Venereology, 2021-06, Vol.35 (6), p.e385-e387

2021

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High‐dose pulsed corticosteroid therapy combined with methotrexate for severe alopecia areata of childhood

Journal of the European Academy of Dermatology and Venereology, 2017-11, Vol.31 (11), p.e476-e477

2017

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Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients

British journal of dermatology (1951), 2019-01, Vol.180 (1), p.172-180

2019

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ADAR1 splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient

Journal of the European Academy of Dermatology and Venereology, 2018-02, Vol.32 (2), p.e79-e80

2018

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KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation

Journal of the European Academy of Dermatology and Venereology, 2017-03, Vol.31 (3), p.e154-e156

2017

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Genetics and dermatology

Annales de dermatologie et de vénéréologie, 2019-04, Vol.146 (4), p.326

Morice-Picard, F

2019

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A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp

Clinical and experimental dermatology, 2011-03, Vol.36 (2), p.188-194

2011

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Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis

Acta dermato-venereologica, 2020-02, Vol.100 (4), p.adv00047

2020

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Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

Genetics in medicine, 2021-12, Vol.23 (12), p.2433-2442

2021

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Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

Acta dermato-venereologica, 2016-01, Vol.96 (4), p.473-478

2016

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French national protocol for the management of congenital ichthyosis

Annales de dermatologie et de vénéréologie, 2024-03, Vol.151 (1), p.103247-103247, Article 103247

2024

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Genotypes & molecular strategies in albinism

Acta ophthalmologica (Oxford, England), 2014-09, Vol.92 (s253), p.0-0

2014

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EBS generalized severe is an inflammatory disease

British journal of dermatology (1951), 2019-02, Vol.180 (2), p.e44-e44

2019

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泛发重度 EBS 是一种炎症性疾病

British journal of dermatology (1951), 2019-02, Vol.180 (2), p.e57-e57

2019

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Mosaic NRASopathy n a child with giant melanocytic congenital naevus, epidermal hamartoma and bilateral nephroblastomatosis: clinical implication for follow-up

Journal of the European Academy of Dermatology and Venereology, 2018-07, Vol.32 (7), p.e258

2018

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Severe linear form of granuloma annulare along Blaschko's lines preceding the onset of a classical form of granuloma annulare in a child

British journal of dermatology (1951), 2007-11, Vol.157 (5), p.1056-1058

2007

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Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment

Mosaic mutations in FGFR3 and FGFR2 are associated with naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus)

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma

Lentiginosis and café‐au‐lait macules as part of the phenotypic spectrum of PAX3‐related disorders

Rare genetic diseases, signalling pathways, and keloid scar formation

Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia

Management of albinism: French guidelines for diagnosis and care

Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism

High‐dose pulsed corticosteroid therapy combined with methotrexate for severe alopecia areata of childhood

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients

ADAR1 splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient

KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation

Genetics and dermatology

A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

French national protocol for the management of congenital ichthyosis

Genotypes & molecular strategies in albinism

EBS generalized severe is an inflammatory disease

泛发重度 EBS 是一种炎症性疾病

Mosaic NRASopathy n a child with giant melanocytic congenital naevus, epidermal hamartoma and bilateral nephroblastomatosis: clinical implication for follow-up

Severe linear form of granuloma annulare along Blaschko's lines preceding the onset of a classical form of granuloma annulare in a child

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