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Yoann Saillour

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Karine Poirier; Yoann Saillour; Isabelle Souville; Stéphanie Valence; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Franck Fourniol; Fiona Francis; Marine Line Jacquemont; Jean Marie Lepage; Nadia Bahi-Buisson
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Chloé Quélin; Yoann Saillour; Isabelle Souville; LAURENT VERCUEIL; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Fanny Dubois; Anne Elodie Millisher-Bellaiche; Marie Ange N'guyen-Morel; Karine Poirier; Nadia Bahi-Buisson
Mosaic DCX deletion causes subcortical band heterotopia in males.
Chloe Quelin; Agathe Roubertie; Yoann Saillour; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Frank Letourneur; Karine Poirier; Nadia Bahi-Buisson
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.

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All Publications

2013: Karine Poirier; Yoann Saillour; Isabelle Souville; Stéphanie Valence; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Franck Fourniol; Fiona Francis; Marine Line Jacquemont; Jean Marie Lepage; Nadia Bahi-Buisson
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
European journal of human genetics : EJHG 2013;21(4):381-5.
2012: Chloé Quélin; Yoann Saillour; Isabelle Souville; LAURENT VERCUEIL; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Fanny Dubois; Anne Elodie Millisher-Bellaiche; Marie Ange N'guyen-Morel; Karine Poirier; Nadia Bahi-Buisson
Mosaic DCX deletion causes subcortical band heterotopia in males.
Neurogenetics 2012;13(4):367-73.
2012: Chloe Quelin; Agathe Roubertie; Yoann Saillour; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Frank Letourneur; Karine Poirier; Nadia Bahi-Buisson
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.
European journal of medical genetics 2012;55(10):527-30.
2012: Vassili Valayannopoulos; Jeanne Amiel; Tania Attié-Bitach; Nadia Bahi-Buisson; Nathalie Boddaert; Francis Brunelle; Lydie Burglen; Jamel Chelly; Jocelyne De Laveaucoupet; Isabelle Desguerre; Ferechté Enza-Razavi; Laurence Hubert; Philippe Labrune; Didier Lacombe; Stanislas LYONNET; Caroline Michot; Diana Rodriguez; Yoann Saillour; Pascale de Lonlay
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Brain : a journal of neurology 2012;135(Pt 1):e199; author reply e200.
2011: Imen Rejeb; Lamia Ben Jemaa; Leila Abaied; Lilia Kraoua; Yoann Saillour; Faouzi Maazoul; Jamel Chelly; Habiba Chaabouni
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
European journal of medical genetics 2011;54(3):241-6.
2010: Karine Poirier; Yoann Saillour; Nadia Bahi-Buisson; Xavier H Jaglin; Catherine Fallet-Bianco; Rima Nabbout; Laetitia Castelnau-Ptakhine; Agathe Roubertie; Tania Attie-Bitach; Isabelle Desguerre; David Genevieve; Christine Barnerias; Boris Keren; Nicolas Lebrun; Nathalie Boddaert; Féréchté Encha-Razavi; Jamel Chelly
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Human molecular genetics 2010;19(22):4462-73.
2010: Nathalie Boddaert; Isabelle Desguerre; Nadia Bahi-Buisson; S Romano; Vassili Valayannopoulos; Yoann Saillour; David J Seidenwurm; D Grevent; L Berteloot; A-S Lebre; M Zilbovicius; S Puget; Rémi Salomon; T Attie-Bitach; Arnold Munnich; F Brunelle; Pascale de Lonlay
Posterior fossa imaging in 158 children with ataxia.
Journal of neuroradiology. Journal de neuroradiologie 2010;37(4):220-30.
2010: Ginevra Zanni; Hilde Van Esch; Anissa Bensalem; Yoann Saillour; Karine Poirier; Laetitia Castelnau; Hans-Hilger Ropers; Arjan P M de Brouwer; Fréderic Laumonnier; Jean-Pierre Fryns; Jamel Chelly
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.
Neurogenetics 2010;11(2):251-5.
2010: Nadia Bahi-Buisson; Benoit Girard; Agnes Gautier; Juliette Nectoux; Yann Fichou; Yoann Saillour; Karine Poirier; Jamel Chelly; Thierry Bienvenu
Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(1):202-7.
2009: Fatma Daoud; Nathalie Angeard; Bénédicte Demerre; Itxaso Martie; Rabah Benyaou; France Leturcq; Mireille Cossée; Nathalie Deburgrave; Yoann Saillour; Sylvie Tuffery; Andoni Urtizberea; Annick Toutain; Bernard Echenne; Martine Frischman; Michèle Mayer; Isabelle Desguerre; Brigitte Estournet; Christian Réveillère; Jean Marie Cuisset; Jean-Claude Kaplan; Delphine Héron; François Rivier; Jamel Chelly
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Human molecular genetics 2009;18(20):3779-94.
2009: Yoann Saillour; Nathalie Carion; Chloé Quelin; Pierre-Louis Leger; Nathalie Boddaert; Caroline Elie; Annick Toutain; Sandra Mercier; Marie-Anne Barthez; Mathieu Milh; Sylvie Joriot; Vincent des Portes; Nicole Philip; Dominique Broglin; Agathe Roubertie; Gaelle Pitelet; Marie-Laure Moutard; Jean-Marc Pinard; Claude Cances; Anna Kaminska; Jamel Chelly; Cherif Beldjord; Nadia Bahi-Buisson
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Archives of neurology 2009;66(8):1007-15.
2009: Xavier Hubert Jaglin; Karine Poirier; Yoann Saillour; Emmanuelle Buhler; Guoling Tian; Nadia Bahi-Buisson; Catherine Fallet-Bianco; Françoise Phan Dinh Tuy; Xiang-Peng Kong; Pascale Bomont; Laëtitia Castelnau-Ptakhine; Sylvie Odent; Philippe Loget; Manoelle Kossorotoff; Irina Snoeck; Ghislaine Plessis; Philippe Parent; Cherif Beldjord; Carlos Cardoso; Alfonso Represa; Jonathan Flint; David A Keays; Nicholas Justin Cowan; Jamel Chelly
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Nature genetics 2009;41(6):746-52.
2008: N Bahi-Buisson; N Boddaert; Yoann Saillour; I Souville; K Poirier; P-L Léger; L Castelnau; P Plouin; N Carion; C Beldjord; J Chelly
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].
Revue neurologique 2008;164(12):995-1009.
2008: Imen Rejeb; Yoann Saillour; Laetitia Castelnau; Cédric Julien; Thierry Bienvenu; Patricia Taga; Habiba Chaabouni; Jamel Chelly; Lamia Ben Jemaa; Nadia Bahi-Buisson
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
European journal of human genetics : EJHG 2008;16(11):1358-63.
2008: Nadia Bahi-Buisson; K Poirier; Nathalie Boddaert; Yoann Saillour; L Castelnau; N Philip; G Buyse; L Villard; Sylvie Joriot; S Marret; M Bourgeois; H Van Esch; L Lagae; Jeanne Amiel; Lucie Hertz-Pannier; A Roubertie; F Rivier; J M Pinard; Cherif Beldjord; Jamel Chelly
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Journal of medical genetics 2008;45(10):647-53.
2008: Yoann Saillour; Mireille Cossée; France Leturcq; Aurélie Vasson; Caroline Beugnet; Karine Poirier; Virginie Commere; Sébastien Sublemontier; Marion Viel; Franck Letourneur; Jean Claude Barbot; Nathalie Deburgrave; Jamel Chelly; Thierry Bienvenu
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
Human mutation 2008;29(9):1083-90.
2008: Catherine Fallet-Bianco; Laurence Loeuillet; Karine Poirier; Philippe Loget; Françoise Chapon; Laurent Pasquier; Yoann Saillour; Cherif Beldjord; Jamel Chelly; Fiona Francis
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
Brain : a journal of neurology 2008;131(Pt 9):2304-20.
2008: Karine Poirier; Monika Eisermann; Isabelle Caubel; Anna Kaminska; Sylviane Peudonnier; Nathalie Boddaert; Yoann Saillour; Olivier Dulac; Isabelle Souville; Cherif Beldjord; Karine Lascelles; Perrine Plouin; Jamel Chelly; Nadia Bahi-Buisson
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.
Epilepsy research 2008;80(2-3):224-8.
2008: Françoise Phan Dinh Tuy; Yoann Saillour; Caroline Kappeler; Jamel Chelly; Fiona Francis
Alternative transcripts of Dclk1 and Dclk2 and their expression in doublecortin knockout mice.
Developmental neuroscience 2008;30(1-3):171-86.
2007: Yoann Saillour; Ginevra Zanni; Vincent des Portes; D Heron; Laurent Guibaud; M T Iba-Zizen; J L Pedespan; Karine Poirier; L Castelnau; C Julien; C Franconnet; D Bonthron; M E Porteous; Jamel Chelly; Thierry Bienvenu
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
Journal of medical genetics 2007;44(11):739-44.
2007: Karine Poirier; David A Keays; Fiona Francis; Yoann Saillour; Nadia Bahi; Sylvie Manouvrier; Catherine Fallet-Bianco; Laurent Pasquier; Annick Toutain; Françoise Phan Dinh Tuy; Thierry Bienvenu; Sylvie Joriot; Sylvie Odent; Dorothée Ville; Isabelle Desguerre; Alice Goldenberg; Marie-Laure Moutard; Jean-Pierre Fryns; Hilde Van Esch; Robert Justin Harvey; Christian Siebold; Jonathan Flint; Cherif Beldjord; Jamel Chelly
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Human mutation 2007;28(11):1055-64.
2007: Arjan P M de Brouwer; Helger G Yntema; Tjitske Kleefstra; Dorien Lugtenberg; Astrid R Oudakker; Bert B A de Vries; Hans van Bokhoven; Hilde Van Esch; Suzanne G M Frints; Guy Froyen; Jean-Pierre Fryns; Martine Raynaud; Marie-Pierre Moizard; Nathalie Ronce; Anissa Bensalem; Claude Moraine; Karine Poirier; Laetitia Castelnau; Yoann Saillour; Thierry Bienvenu; Chérif Beldjord; Vincent des Portes; Jamel Chelly; Gillian Turner; Tod Fullston; Jozef Gecz; Andreas W Kuss; Andreas Tzschach; Lars Riff Jensen; Steffen Lenzner; Vera M Kalscheuer; Hans-Hilger Ropers; Ben C J Hamel
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
Human mutation 2007;28(2):207-8.
2007: Caroline Kappeler; Marc Dhenain; Françoise Phan Dinh Tuy; Yoann Saillour; Serge Marty; Catherine Fallet-Bianco; Isabelle Souville; Evelyne Souil; Jean-Marc Pinard; Gundela Meyer; Férechté Encha-Razavi; Andreas Volk; Cherif Beldjord; Jamel Chelly; Fiona Francis
Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency.
The Journal of comparative neurology 2007;500(2):239-54.
2006: Caroline Kappeler; Yoann Saillour; Jean-Pierre Baudoin; Françoise Phan Dinh Tuy; Chantal Alvarez; Christophe Houbron; patricia Gaspar; Ghislaine Hamard; Jamel Chelly; Christine Métin; Fiona Francis
Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice.
Human molecular genetics 2006;15(9):1387-400.
2005: Ginevra Zanni; Yoann Saillour; M Nagara; Pierre Billuart; L Castelnau; Claude Moraine; L Faivre; E Bertini; A Durr; Agnès Guichet; D Rodriguez; Vincent des Portes; Cherif Beldjord; Jamel Chelly
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.
Neurology 2005;65(9):1364-9.
2005: Gaëlle Friocourt; Caroline Kappeler; Yoann Saillour; Fabien Fauchereau; Manuel S Rodriguez; Nadia Bahi; Marie-Claude Vinet; Philippe Chafey; Karine Poirier; Shinichiro Taya; Stephen A Wood; Catherine Dargemont; Fiona Francis; Jamel Chelly
Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes.
Molecular and cellular neurosciences 2005;28(1):153-64.
2004: Karine Poirier; Hilde Van Esch; Gaëlle Friocourt; Yoann Saillour; Nadia Bahi; Stéphanie Backer; Evelyne Souil; Laetitia Castelnau-Ptakhine; Cherif Beldjord; Fiona Francis; Thierry Bienvenu; Jamel Chelly
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.
Brain research. Molecular brain research 2004;122(1):35-46.