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Page 1
GM3 synthase deficiency in non-Amish patients.
Heide S, Jacquemont ML, Cheillan D, Renouil M, Tallot M, Schwartz CE, Miquel J, Bintner M, Rodriguez D, Darcel F, Buratti J, Haye D, Passemard S, Gras D, Perrin L, Capri Y, Gérard B, Piton A, Keren B, Thauvin-Robinet C, Duffourd Y, Faivre L, Poe C, Pervillé A, Héron D, Thévenon J, Arnaud L, LeGuern E, La Selva L, Vetro A, Guerrini R, Nava C, Mignot C. Heide S, et al. Among authors: miquel j. Genet Med. 2022 Feb;24(2):492-498. doi: 10.1016/j.gim.2021.10.007. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906476 Free article.
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. Among authors: miquel j. 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 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. Among authors: miquel j. Br J Dermatol. 2019 Jun;180(6):1438-1448. doi: 10.1111/bjd.17404. Epub 2019 Jan 18. Br J Dermatol. 2019. PMID: 30417923
Childhood chronic prurigo: Interest in patch tests and delayed-reading skin prick tests to environmental allergens.
Maridet C, Perromat M, Miquel J, Chiaverini C, Bessis D, Lasek A, Piram M, Bursztejn AC, Abasq C, Phan A, Martin L, Bréchat B, Chong JH, Seneschal J, Taïeb A, Boralevi F; Groupe de Recherche Clinique de la Société Française de Dermatologie Pédiatrique. Maridet C, et al. Among authors: miquel j. J Allergy Clin Immunol. 2018 Feb;141(2):797-799.e9. doi: 10.1016/j.jaci.2017.07.049. Epub 2017 Sep 22. J Allergy Clin Immunol. 2018. PMID: 28943471 Clinical Trial. No abstract available.
Central nervous system screening in capillary malformation-arteriovenous malformation syndrome: An observational study.
Boccara O, Mazereeuw J, Martin L, Bessis D, Hubiche T, Chiaverini C, Dompmartin A, Mallet S, Miquel J, Aubert H, Puzenat E, Abasq C, Gusdorf L, Hadj-Rabia S, Maruani A; Groupe de Recherche Clinique de Dermatologie Pédiatrique (GRDP,); Filière Maladies rares Dermatologiques (FIMARAD). Boccara O, et al. Among authors: miquel j. J Am Acad Dermatol. 2022 Oct;87(4):914-916. doi: 10.1016/j.jaad.2021.12.030. Epub 2021 Dec 24. J Am Acad Dermatol. 2022. PMID: 34954287 No abstract available.
Clinical phenotype of scabies by age.
Boralevi F, Diallo A, Miquel J, Guerin-Moreau M, Bessis D, Chiavérini C, Plantin P, Hubiche T, Maruani A, Lassalle M, Boursault L, Ezzedine K; Groupe de Recherche Clinique en Dermatologie Pédiatrique. Boralevi F, et al. Among authors: miquel j. Pediatrics. 2014 Apr;133(4):e910-6. doi: 10.1542/peds.2013-2880. Epub 2014 Mar 31. Pediatrics. 2014. PMID: 24685953
[Impact of sex and age on the clinical and epidemiological aspects of childhood psoriasis: Data from a French cross-sectional multicentre study].
Bonigen J, Phan A, Hadj-Rabia S, Boralévi F, Bursztejn AC, Bodemer C, Ferneiny M, Souillet AL, Chiavérini C, Bourrat E, Miquel J, Vabres P, Barbarot S, Bessis D, Eschard C, Mazereeuw-Hautier J, Piram M, Plantin P, Abasq C, Lasek-Duriez A, Maruani A, Beauchet A, Mahé E; Groupe de recherche de la Société française de dermatologie pédiatrique. Bonigen J, et al. Among authors: miquel j. Ann Dermatol Venereol. 2016 May;143(5):354-63. doi: 10.1016/j.annder.2016.02.006. Epub 2016 Mar 8. Ann Dermatol Venereol. 2016. PMID: 26969479 French.
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. Among authors: miquel j. Br J Dermatol. 2019 Jan;180(1):172-180. doi: 10.1111/bjd.17077. Epub 2018 Sep 30. Br J Dermatol. 2019. PMID: 30141192
616 results