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Page 1
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.
Kuentz P, Engel C, Laeng M, Chevarin M, Duffourd Y, Martel J, Piard J, Morice-Picard F, Aubert H, Bessis D, Guerrot AM, Maruani A, Boccara O, Mazereeuw-Hautier J, Ott H, Phan A, Puzenat E, Quelin C, Thauvin-Robinet C, Faivre L, Vabres P. Kuentz P, et al. Among authors: morice picard f. Br J Dermatol. 2024 Jul 16;191(2):303-305. doi: 10.1093/bjd/ljae167. Br J Dermatol. 2024. PMID: 38623710 No abstract available.
Increasing the complexity: new genes and new types of albinism.
Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Montoliu L, et al. Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167. Epub 2013 Oct 17. Pigment Cell Melanoma Res. 2014. PMID: 24066960 Review.
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.
Nambot S, Masurel A, El Chehadeh S, Mosca-Boidron AL, Thauvin-Robinet C, Lefebvre M, Marle N, Thevenon J, Perez-Martin S, Dulieu V, Huet F, Plessis G, Andrieux J, Jouk PS, Billy-Lopez G, Coutton C, Morice-Picard F, Delrue MA, Heron D, Rooryck C, Goldenberg A, Saugier-Veber P, Joly-Hélas G, Calenda P, Kuentz P, Manouvrier-Hanu S, Dupuis-Girod S, Callier P, Faivre L. Nambot S, et al. Eur J Hum Genet. 2016 Jun;24(6):830-7. doi: 10.1038/ejhg.2015.202. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395556 Free PMC article.
KLICK syndrome: recognizable phenotype and hot-spot POMP mutation.
Morice-Picard F, Jonca N, Pichery M, Mermin D, Leauté-Labrèze C, Taïeb A, Mazereeuw-Hautier J, Boralevi F. Morice-Picard F, et al. J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e154-e156. doi: 10.1111/jdv.13898. Epub 2016 Aug 26. J Eur Acad Dermatol Venereol. 2017. PMID: 27503413 No abstract available.
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Rivière JB, Duffourd Y, Schaefer E, Antal MC, Abida R, Weingertner AS, Kremer V, Vabres P, Morice-Picard F, Gonzales M, Lipsker D, Fraitag S, Mandel JL, Chelly J, Dollfus H, Faivre L, Thauvin-Robinet C, Calmels N, El Chehadeh S. Miguet M, et al. Prenat Diagn. 2016 Dec;36(13):1276-1279. doi: 10.1002/pd.4965. Epub 2016 Dec 2. Prenat Diagn. 2016. PMID: 27862069 No abstract available.
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB. Kuentz P, et al. Genet Med. 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151489 Free article.
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.
Bessis D, Morice-Picard F, Bourrat E, Abadie C, Aouinti S, Baumann C, Best M, Bursztejn AC, Capri Y, Chiaverini C, Coubes C, Giuliano F, Hadj-Rabia S, Jacquemont ML, Lacombe D, Lyonnet S, Mallet S, Mazereeuw-Hautier J, Miquel J, Molinari N, Parfait B, Pernet C, Philip N, Pinson L, Pouvreau N, Vial Y, Sarda P, Sigaudy S, Verloes A, Cavé H, Geneviève D. Bessis D, et al. Br J Dermatol. 2019 Jan;180(1):172-180. doi: 10.1111/bjd.17077. Epub 2018 Sep 30. Br J Dermatol. 2019. PMID: 30141192
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
Bessis D, Miquel J, Bourrat E, Chiaverini C, Morice-Picard F, Abadie C, Manna F, Baumann C, Best M, Blanchet P, Bursztejn AC, Capri Y, Coubes C, Giuliano F, Guillaumont S, Hadj-Rabia S, Jacquemont ML, Jeandel C, Lacombe D, Mallet S, Mazereeuw-Hautier J, Molinari N, Pallure V, Pernet C, Philip N, Pinson L, Sarda P, Sigaudy S, Vial Y, Willems M, Geneviève D, Verloes A, Cavé H. Bessis D, et al. Br J Dermatol. 2019 Jun;180(6):1438-1448. doi: 10.1111/bjd.17404. Epub 2019 Jan 18. Br J Dermatol. 2019. PMID: 30417923
122 results