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A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.
Meunier I, Bocquet B, Labesse G, Zeitz C, Defoort-Dhellemmes S, Lacroux A, Mauget-Faysse M, Drumare I, Gamez AS, Mathieu C, Marquette V, Sagot L, Dhaenens CM, Arndt C, Carroll P, Remy-Jardin M, Cohen SY, Sahel JA, Puech B, Audo I, Mrejen S, Hamel CP. Meunier I, et al. Sci Rep. 2016 Sep 7;6:32544. doi: 10.1038/srep32544. Sci Rep. 2016. PMID: 27601084 Free PMC article.
[Congenital achromatopsia: electroretinogram in early diagnosis].
Defoort-Dhellemmes S, Lebrun T, Arndt CF, Bouvet-Drumare I, Guilbert F, Puech B, Hache JC. Defoort-Dhellemmes S, et al. J Fr Ophtalmol. 2004 Feb;27(2):143-8. doi: 10.1016/s0181-5512(04)96108-6. J Fr Ophtalmol. 2004. PMID: 15029041 French.
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C. Audo I, et al. Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896113 Free PMC article.
96 results