1. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report. (December 2015) Authors: Chafai-Elalaoui, Siham; Chalon, Matthias; Elkhartoufi, Nadia; Kriouele, Yamna; Mansouri, Maria; Attié-Bitach, Tania; Sefiani, Abdelaziz; Baala, Lekbir Journal: Journal of medical case reports Issue: Volume 9:Number 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel KIF7 mutation in two affected siblings with acrocallosal syndrome. Issue 2 (April 2015) Authors: Karaer, Kadri; Yuksel, Zafer; Ichkou, Amale; Calisir, Cuneyt; Attié-Bitach, Tania Journal: Clinical dysmorphology Issue: Volume 24:Issue 2(2015:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel KIF7 mutation in two affected siblings with acrocallosal syndrome. Issue 2 (April 2015) Authors: Karaer, Kadri; Yuksel, Zafer; Ichkou, Amale; Calisir, Cuneyt; Attié-Bitach, Tania Journal: Clinical dysmorphology Issue: Volume 24:Issue 2(2015:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. Issue 11 (28th September 2012) Authors: Legendre, Marine; Gonzales, Marie; Goudefroye, Géraldine; Bilan, Frédéric; Parisot, Pauline; Perez, Marie-José; Bonnière, Maryse; Bessières, Bettina; Martinovic, Jelena; Delezoide, Anne-Lise; Jossic, Frédérique; Fallet-Bianco, Catherine; Bucourt, Martine; Tantau, Julia; Loget, Philippe; Loeuillet... Journal: Journal of medical genetics Issue: Volume 49:Issue 11(2012) Page Start: 698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. (16th May 2018) Authors: Barny, Iris; Perrault, Isabelle; Michel, Christel; Soussan, Mickael; Goudin, Nicolas; Rio, Marlène; Thomas, Sophie; Attié-Bitach, Tania; Hamel, Christian; Dollfus, Hélène; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier Journal: Human molecular genetics Issue: Volume 27:Number 15(2018:Aug. 01) Page Start: 2689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Issue 10 (14th August 2015) Authors: Perrault, Isabelle; Halbritter, Jan; Porath, Jonathan D; Gérard, Xavier; Braun, Daniela A; Gee, Heon Yung; Fathy, Hanan M; Saunier, Sophie; Cormier-Daire, Valérie; Thomas, Sophie; Attié-Bitach, Tania; Boddaert, Nathalie; Taschner, Michael; Schueler, Markus; Lorentzen, Esben; Lifton, Richard P; La... Journal: Journal of medical genetics Issue: Volume 52:Issue 10(2015) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Issue 11 (2nd November 2012) Authors: Putoux, Audrey; Nampoothiri, Sheela; Laurent, Nicole; Cormier-Daire, Valérie; Beales, Philip L; Schinzel, Albert; Bartholdi, Deborah; Alby, Caroline; Thomas, Sophie; Elkhartoufi, Nadia; Ichkou, Amale; Litzler, Julie; Munnich, Arnold; Encha-Razavi, Férechté; Kannan, Rajesh; Faivre, Laurence; Bodda... Journal: Journal of medical genetics Issue: Volume 49:Issue 11(2012) Page Start: 713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects. Issue 7 (13th April 2011) Authors: Jeanpierre, Cécile; Macé, Guillaume; Parisot, Mélanie; Morinière, Vincent; Pawtowsky, Audrey; Benabou, Marion; Martinovic, Jelena; Amiel, Jeanne; Attié-Bitach, Tania; Delezoide, Anne-Lise; Loget, Philippe; Blanchet, Patricia; Gaillard, Dominique; Gonzales, Marie; Carpentier, Wassila; Nitschke, Pa... Journal: Journal of medical genetics Issue: Volume 48:Issue 7(2011) Page Start: 497 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗