Recherche - Archive ouverte HAL Accéder directement au contenu

Filtrer vos résultats

8 Résultats
Auteur : personID (entier) : 1110200
Image document

Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design

Annabel Maruani , Olivia Boccara , Didier Bessis , Laurent Guibaud , Pierre Vabres et al.
Trials, 2018, 19 (1), pp.340. ⟨10.1186/s13063-018-2725-1⟩
Article dans une revue hal-01913363v1
Image document

Severe gynaecological involvement in Proteus Syndrome

Maella Severino-Freire , Aude Maza , Paul Kuentz , Yannis Duffourd , Laurence Faivre et al.
European Journal of Medical Genetics, 2019, 62 (4), pp.270-272. ⟨10.1016/j.ejmg.2018.08.003⟩
Article dans une revue hal-01862400v1

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Elodie Bal , Hyun-Sook Park , Zakia Belaid-Choucair , Hulya Kayserili , Magali Naville et al.
Nature Medicine, 2017, 23 (10), pp.1226-1233. ⟨10.1038/nm.4368⟩
Article dans une revue hal-02415844v1

Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex

Jennifer Brun , Christine Chiaverini , Caroline Devos , Stéphanie Leclerc-Mercier , Juliette Mazereeuw-Hautier et al.
Orphanet Journal of Rare Diseases, 2017, 12 (1), pp.119. ⟨10.1186/s13023-017-0666-5⟩
Article dans une revue hal-01577342v1

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Mustapha Amyere , Nicole Revencu , Raphaël Helaers , Eleonore Pairet , Eulalia Baselga et al.
Circulation, 2017, 136 (11), pp.1037 - 1048. ⟨10.1161/CIRCULATIONAHA.116.026886⟩
Article dans une revue hal-01726521v1

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Paul Kuentz , Judith Saint-Onge , Yannis Duffourd , Jean-Benoît Courcet , Virginie Carmignac et al.
Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
Article dans une revue hal-01560452v1

The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature

Didier Bessis , Michèle Bigorre , Nausicaa Malissen , Guillaume Captier , Christine Chiaverini et al.
Journal of The American Academy of Dermatology, 2017, 76 (3), pp.478-487. ⟨10.1016/j.jaad.2016.08.046⟩
Article dans une revue hal-01579056v1
Image document

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

Maud Jordan , Virginie Carmignac , Arthur Sorlin , Paul Kuentz , Juliette Albuisson et al.
Journal of Investigative Dermatology, 2019, ⟨10.1016/j.jid.2019.08.455⟩
Article dans une revue hal-03158801v1