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Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
El Chehadeh S, Legrand A, Stoetzel C, Geoffroy V, Billon C, Adham S, Jeunemaître X, Jaussaud R, Muller J, Schaefer E, Benistan K, Gaertner S, Bloch-Zupan A, Courval A, Manière MC, Petit C, Bursztejn AC, Bal L, Reyre A, Chammas A, Busa T, Dollfus H, Lipsker D. El Chehadeh S, et al. Among authors: lipsker d. Clin Genet. 2021 Aug;100(2):206-212. doi: 10.1111/cge.13972. Epub 2021 Apr 29. Clin Genet. 2021. PMID: 33890303
[Ehler-Danlos syndrome type VIII].
Ciarloni L, Perrigouard C, Lipsker D, Cribier B. Ciarloni L, et al. Among authors: lipsker d. Ann Dermatol Venereol. 2010 Mar;137(3):194-7. doi: 10.1016/j.annder.2009.11.009. Epub 2009 Dec 30. Ann Dermatol Venereol. 2010. PMID: 20227561 French.
[Leucoderma in children: Review of the literature].
Moulinas C, Dollfus H, Lipsker D. Moulinas C, et al. Among authors: lipsker d. Ann Dermatol Venereol. 2015 Jun-Jul;142(6-7):399-409. doi: 10.1016/j.annder.2015.01.028. Epub 2015 May 4. Ann Dermatol Venereol. 2015. PMID: 25952794 Review. French.
Albinism in a patient with mutations at both the OA1 and OCA3 loci.
Morice-Picard F, Lasseaux E, Plaisant C, Cailley D, Bouron J, Rooryck C, Lacombe D, Pelletier V, Lipsker D, Perdomo-Trujillo Y, Dollfus H, Arveiler B. Morice-Picard F, et al. Among authors: lipsker d. Pigment Cell Melanoma Res. 2016 Jan;29(1):107-9. doi: 10.1111/pcmr.12408. Epub 2015 Oct 24. Pigment Cell Melanoma Res. 2016. PMID: 26247803 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. Among authors: lipsker d. 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.
Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma.
Goussot R, Prasad M, Stoetzel C, Lenormand C, Dollfus H, Lipsker D. Goussot R, et al. Among authors: lipsker d. JAAD Case Rep. 2017 Mar 19;3(2):143-150. doi: 10.1016/j.jdcr.2017.01.002. eCollection 2017 Mar. JAAD Case Rep. 2017. PMID: 28349113 Free PMC article. No abstract available.
381 results