1. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018) Authors: Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2. Issue 4 (October 2017) Authors: Vuillaume, Marie-Laure; Valard, Anna-Gaelle; Houcinat, Nada; Bouron, Julie; Boucher, Cécile; Deves, Sylvie; Toutain, Jérôme; Schaub, Bruno; Adenet, Clara; Lacombe, Didier; Gueneret, Michèle; Rooryck, Caroline Journal: Clinical dysmorphology Issue: Volume 26:Issue 4(2017:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗