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 Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium. Issue 1 (13th November 2013) Authors: Thomas, Sophie; Wright, Kevin J.; Corre, Stéphanie Le; Micalizzi, Alessia; Romani, Marta; Abhyankar, Avinash; Saada, Julien; Perrault, Isabelle; Amiel, Jeanne; Litzler, Julie; Filhol, Emilie; Elkhartoufi, Nadia; Kwong, Mandy; Casanova, Jean‐Laurent; Boddaert, Nathalie; Baehr, Wolfgang; Lyonnet, S... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. Issue 7 (22nd January 2018) Authors: Chartier, Suzanne; Alby, Caroline; Boutaud, Lucile; Thomas, Sophie; Elkhartoufi, Nadia; Martinovic, Jelena; Kaplan, Josseline; Benachi, Alexandra; Lacombe, Didier; Sonigo, Pascale; Drunat, Séverine; Vekemans, Michel; Agenor, Joël; Encha Razavi, Férechté; Attie‐Bitach, Tania Journal: Birth defects research Issue: Volume 110:Issue 7(2018) Page Start: 598 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. BBS10 mutations are common in 'Meckel'-type cystic kidneys. Issue 12 (30th August 2010) Authors: Putoux, Audrey; Mougou-Zerelli, Soumaya; Thomas, Sophie; Elkhartoufi, Nadia; Audollent, Sophie; Le Merrer, Martine; Lachmeijer, Augusta; Sigaudy, Sabine; Buenerd, Annie; Fernandez, Carla; Delezoide, Anne-Lise; Gubler, Marie-Claire; Salomon, Rémi; Saad, Ali; Cordier, Marie-Pierre; Vekemans, Michel... Journal: Journal of medical genetics Issue: Volume 47:Issue 12(2010) Page Start: 848 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation. Issue 1 (14th December 2015) Authors: Alby, Caroline; Malan, Valérie; Boutaud, Lucile; Marangoni, Maria Angela; Bessières, Bettina; Bonniere, Maryse; Ichkou, Amale; Elkhartoufi, Nadia; Bahi‐Buisson, Nadia; Sonigo, Pascale; Millischer, Anne‐Elodie; Thomas, Sophie; Ville, Yves; Vekemans, Michel; Encha‐Razavi, Férechté; Attié‐Bitach, Tania Journal: Birth defects research Issue: Volume 106:Issue 1(2016) Page Start: 36 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. Issue 3 (4th August 2020) Authors: Billon, Clarisse; Molin, Arnaud; Poirsier, Céline; Clemenson, Alix; Dauge, Coralie; Grelet, Maude; Sigaudy, Sabine; Patrier, Sophie; Goldenberg, Alice; Layet, Valérie; Tantau, Julia; Fleury, Clémence; Liard, Agnès; Diguet, Alain; Fritih, Radia; Verspyck, Eric; Rendu, John; Boutaud, Lucile; Tessie... Journal: Clinical genetics Issue: Volume 98:Issue 3(2020) Page Start: 261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. Issue 7 (27th April 2018) Authors: Quélin, Chloé; Loget, Philippe; Boutaud, Lucile; Elkhartoufi, Nadia; Milon, Joelle; Odent, Sylvie; Fradin, Mélanie; Demurger, Florence; Pasquier, Laurent; Thomas, Sophie; Attié‐Bitach, Tania Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1610 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome. Issue 4 (13th July 2021) Authors: Ghesh, Leïla; Musquer, Marie Denis; Devisme, Louise; Stichelbout, Morgane; Boutaud, Lucile; Elkhartoufi, Nadia; Vaast, Pascal; Boute, Odile; Riteau, Anne‐Sophie; Le Vaillant, Claudine; Winer, Norbert; Joubert, Madeleine; Bezieau, Stéphane; Thomas, Sophie; Attie‐Bitach, Tania; Beneteau, Claire Journal: Clinical genetics Issue: Volume 100:Issue 4(2021) Page Start: 462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗