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Page 1
The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
Ulgiati F, Lhoir S, Balikova I, Tenoutasse S, Boros E, Vilain C, Heinrichs C, Brachet C. Ulgiati F, et al. Among authors: vilain c. Front Endocrinol (Lausanne). 2021 Nov 12;12:729056. doi: 10.3389/fendo.2021.729056. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34867779 Free PMC article. Clinical Trial.
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C. Simonis N, et al. Among authors: vilain c. J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28. J Med Genet. 2013. PMID: 23812909 Free PMC article.
Iodotyrosine deiodinase defect identified via genome-wide approach.
Burniat A, Pirson I, Vilain C, Kulik W, Afink G, Moreno-Reyes R, Corvilain B, Abramowicz M. Burniat A, et al. Among authors: vilain c. J Clin Endocrinol Metab. 2012 Jul;97(7):E1276-83. doi: 10.1210/jc.2011-3314. Epub 2012 Apr 24. J Clin Endocrinol Metab. 2012. PMID: 22535972
Variable expressivity in Buschke-Ollendorff syndrome.
Salik D, Dupire G, Sass U, Dangoisse C, Franck D, Labadens A, Marangoni M, Vilain C, Smits G. Salik D, et al. Among authors: vilain c. Ann Dermatol Venereol. 2022 Jun;149(2):128-131. doi: 10.1016/j.annder.2021.07.004. Epub 2021 Sep 10. Ann Dermatol Venereol. 2022. PMID: 34511237 No abstract available.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, W… See abstract for full author list ➔ van der Sluijs PJ, et al. Among authors: vilain c. Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y. Genet Med. 2019. PMID: 30696996 Free PMC article.
148 results