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Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Plaisancié J, Martinovic J, Chesneau B, Whalen S, Rodriguez D, Audebert-Bellanger S, Marzin P, Grotto S, Perthus I, Holt RJ, Bax DA, Ragge N, Chassaing N. Plaisancié J, et al. Among authors: chassaing n. J Med Genet. 2023 Dec 21;61(1):84-92. doi: 10.1136/jmg-2023-109331. J Med Genet. 2023. PMID: 37586836
Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.
Severino-Freire M, Maza A, Lombardi MP, Tournier E, Chassaing N, Mazereeuw-Hautier J. Severino-Freire M, et al. Among authors: chassaing n. Acta Derm Venereol. 2017 Jul 6;97(7):853-854. doi: 10.2340/00015555-2648. Acta Derm Venereol. 2017. PMID: 28293688 Free article. No abstract available.
Hepatocyte Nuclear Factor-1β Controls Mitochondrial Respiration in Renal Tubular Cells.
Casemayou A, Fournel A, Bagattin A, Schanstra J, Belliere J, Decramer S, Marsal D, Gillet M, Chassaing N, Huart A, Pontoglio M, Knauf C, Bascands JL, Chauveau D, Faguer S. Casemayou A, et al. Among authors: chassaing n. J Am Soc Nephrol. 2017 Nov;28(11):3205-3217. doi: 10.1681/ASN.2016050508. Epub 2017 Jul 24. J Am Soc Nephrol. 2017. PMID: 28739648 Free PMC article.
A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M, JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet DF, FitzPatrick D, Kwok PY, Ellgaard L, Gould DB, Zhang Y, Malicki J, Baier H, Slavotinek A. Chao R, et al. Among authors: chassaing n. PLoS One. 2010 May 11;5(5):e10565. doi: 10.1371/journal.pone.0010565. PLoS One. 2010. PMID: 20485507 Free PMC article.
[Finger agenesis after in utero exposure to ketoconazole: a case report].
Cabou C, Lacroix I, Rista C, Rolland M, Chassaing N, Calvas P, Montastruc JL, Damase-Michel C. Cabou C, et al. Among authors: chassaing n. Therapie. 2003 Mar-Apr;58(2):172-4. doi: 10.2515/therapie:2003028. Therapie. 2003. PMID: 12942862 French. No abstract available.
Manifestations of pseudoxanthoma elasticum in childhood.
Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L. Naouri M, et al. Among authors: chassaing n. Br J Dermatol. 2009 Sep;161(3):635-9. doi: 10.1111/j.1365-2133.2009.09298.x. Epub 2009 Jun 9. Br J Dermatol. 2009. PMID: 19519828
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Khau Van Kien P, Baux D, Pallares-Ruiz N, Baudoin C, Plancke A, Chassaing N, Collignon P, Drouin-Garraud V, Hovnanian A, Martin-Coignard D, Collod-Béroud G, Béroud C, Roux AF, Claustres M. Khau Van Kien P, et al. Among authors: chassaing n. Hum Mutat. 2010 Jan;31(1):E1021-42. doi: 10.1002/humu.21131. Hum Mutat. 2010. PMID: 19802897 Free article.
140 results