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Cherif Beldjord

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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.
Nadia Bahi-Buisson; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Caroline Elie; Franck J Fourniol; Fiona Francis; Anne Houdusse; Marie Hully; Reham Khalaf-Nazzal; Carolyn A Moores; Karine Poirier; Isabelle Souville; Aurelie Toussaint; Pierre Louis Leger; Jean Yves Lemaitre
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
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.

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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.
2013: Nadia Bahi-Buisson; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Caroline Elie; Franck J Fourniol; Fiona Francis; Anne Houdusse; Marie Hully; Reham Khalaf-Nazzal; Carolyn A Moores; Karine Poirier; Isabelle Souville; Aurelie Toussaint; Pierre Louis Leger; Jean Yves Lemaitre
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Brain : a journal of neurology 2013;136(Pt 1):223-44.
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: Jodi Warman Chardon; Delphine Héron; Anna Kaminska; Boris Keren; Cyril Mignot; Alexandra Afenjar; Swaroop Aradhya; Cherif Beldjord; Kym M Boycott
Deletion of filamin A in two female patients with periventricular nodular heterotopia.
American journal of medical genetics. Part A 2012;158A(6):1512-6.
2010: Nadia Bahi-Buisson; Karine Poirier; Nathalie Boddaert; Catherine Fallet-Bianco; Nicola Specchio; Enrico Bertini; Okay Caglayan; Karine Lascelles; Caroline Elie; Jérôme Rambaud; Michel Baulac; Isabelle An; Patricia Dias; Vincent des Portes; Marie-Laure Moutard; Christine Soufflet; Monique El Maleh; Cherif Beldjord; Laurent Villard; Jamel Chelly
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Brain : a journal of neurology 2010;133(11):3194-209.
2009: Rima Nabbout; Christel Depienne; Mathilde Chipaux; Benoit Girard; Isabelle Souville; Oriane Trouillard; Olivier Dulac; Jamel Chelly; Alexandra Afenjar; Delphine Héron; Eric LeGuern; Cherif Beldjord; Thierry Bienvenu; Nadia Bahi-Buisson
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
Epilepsy research 2009;87(1):25-30.
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.
2009: Nassima Boudrahem-Addour; Nadia Zidani; Nathalie Carion; Dominique Labie; Meriem Belhani; Cherif Beldjord
Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.
Hemoglobin 2009;33(1):24-36.
2008: Lamia Ben Jemaa; Samah Khemir; Faouzi Maazoul; Laurent Richard; Cherif Beldjord; Mohamed Chaabouni; Habiba Chaabouni
[Molecular diagnosis of fragile X syndrome].
La Tunisie médicale 2008;86(11):973-7.
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: Pierre-Louis Leger; Isabelle Souville; Nathalie Boddaert; Caroline Elie; Jean Marc Pinard; Perrine Plouin; Marie-Laure Moutard; Vincent des Portes; Hilde Van Esch; Sylvie Joriot; Jean Louis Renard; Jamel Chelly; Fiona Francis; Cherif Beldjord; Nadia Bahi-Buisson
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Neurogenetics 2008;9(4):277-85.
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.
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: 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: Karine Poirier; D Lacombe; B Gilbert-Dussardier; Martine Raynaud; Vincent Desportes; Arjan de Brouwer; Claude Moraine; Jean-Pierre Fryns; Hans-Hilger Ropers; Cherif Beldjord; Jamel Chelly; Thierry Bienvenu
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Neurogenetics 2006;7(1):39-46.
2006: Fiona Francis; Gundela Meyer; Catherine Fallet-Bianco; Sarah Moreno; Caroline Kappeler; Alfredo Cabrera Socorro; Françoise Phan Dinh Tuy; Cherif Beldjord; Jamel Chelly
Human disorders of cortical development: from past to present.
The European journal of neuroscience 2006;23(4):877-93.
2006: Amina Bibi; Taieb Messaoud; Cherif Beldjord; Slaheddine Fattoum
Detection of two rare beta-thalassemia alleles found in the Tunisian population: codon 47 (+A) and codons 106/107 (+G).
Hemoglobin 2006;30(4):437-47.
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: Karine Poirier; J Abriol; Isabelle Souville; C Laroche-Raynaud; Cherif Beldjord; B Gilbert; Jamel Chelly; Thierry Bienvenu
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.
Human genetics 2005;118(1):45-8.
2004: Valérie Biancalana; Cherif Beldjord; Agnès Taillandier; Sylvie Szpiro-Tapia; Véronica Cusin; Fabienne Gerson; Christophe Philippe; Jean-Louis Mandel
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.
American journal of medical genetics. Part A 2004;129A(3):218-24.
2004: Angele Ngukam; Marie Line Jacquemont; Isabelle Souville; Marion Viel; Cherif Beldjord; Dominique Hubert; Jean-Noël Hughes; Thierry Bienvenu
A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
Journal of tropical pediatrics 2004;50(4):239-40.
2004: Géraldine Viot; Pascale Sonigo; Isabelle Simon; Brigitte Simon-Bouy; Frédéric Chadeyron; Cherif Beldjord; Julia Tantau; Jelena Martinovic; Chantal Esculpavit; Francis Brunelle; Arnold Munnich; Michel Vekemans; Férechté Encha-Razavi
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different.
American journal of medical genetics. Part A 2004;126A(2):123-8.
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.
2004: Christophe Béroud; Alain Carrié; Cherif Beldjord; Nathalie Deburgrave; Stéphane Llense; Nadège Carelle; Cécile Peccate; Jean-Marie Cuisset; Florence Pandit; Frédérique Carré-Pigeon; Michèle Mayer; Rémi Bellance; Dominique Récan; Jamel Chelly; Jean-Claude Kaplan; France Leturcq
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.
Neuromuscular disorders : NMD 2004;14(1):10-8.
2003: N Deconinck; Thierry Duprez; Vincent des Portes; Cherif Beldjord; Sophie Ghariani; C J M Sindic; Guillaume Sébire
Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects.
Neuropediatrics 2003;34(3):146-8.
2003: Thierry Bienvenu; Karine Poirier; Hilde Van Esch; Ben Hamel; Claude Moraine; J P Fryns; Hans-Hilger Ropers; Cherif Beldjord; Helger G Yntema; Jamel Chelly
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.
Journal of medical genetics 2003;40(5):357-9.
2003: Philippe Couvert; Karine Poirier; Alain Carrié; Céline Chalas; Pierre Jouannet; Cherif Beldjord; Thierry Bienvenu; Jamel Chelly; Antoine Kerjean
DHPLC-based method for DNA methylation analysis of differential methylated regions from imprinted genes.
BioTechniques 2003;34(2):356-62.
2002: Vincent des Portes; L Abaoub; A Joannard; Isabelle Souville; Fiona Francis; Jean-Marc Pinard; Jamel Chelly; Cherif Beldjord; Pierre-Simon Jouk
So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation.
Seizure : the journal of the British Epilepsy Association 2002;11(4):273-7.
2002: Thierry Bienvenu; Karine Poirier; Gaëlle Friocourt; Nadia Bahi; Delphine Beaumont; Fabien Fauchereau; Lamia Ben Jeema; Ramzi Zemni; Marie-Claude Vinet; Fiona Francis; Philippe Couvert; Marie Gomot; Claude Moraine; Hans van Bokhoven; Vera Kalscheuer; Suzanna G M Frints; Jozef Gecz; Kanae Ohzaki; Habiba Chaabouni; Jean-Pierre Fryns; Vincent Desportes; Cherif Beldjord; Jamel Chelly
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Human molecular genetics 2002;11(8):981-91.
2002: Patrick Vourc'h; Elisabeth Petit; Jean-Pierre Müh; Christian Andres; Thierry Bienvenu; Cherif Beldjord; Jamel Chelly; Catherine Barthélémy
Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder.
American journal of medical genetics 2002;108(2):164-7.
2002: Thierry Bienvenu; Laurent Villard; Nicolas De Roux; Violaine Bourdon; Michel Fontes; Cherif Beldjord; Marc Tardieu; Philippe Jonveaux; Jamel Chelly
Spectrum of MECP2 mutations in Rett syndrome.
Genetic testing 2002;6(1):1-6.
2001: Thierry Bienvenu; Isabelle Souville; Karine Poirier; C Aquaviva; L Burglen; J Amiel; Bénédicte Héron; A Kaminska; Philippe Couvert; Cherif Beldjord; Jamel Chelly
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
Human mutation 2001;18(3):251-2.
2001: Patrick Vourc'h; T Bienvenu; Cherif Beldjord; Jamel Chelly; Catherine Barthélémy; Jean-Pierre Müh; Christian Andres
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.
European journal of human genetics : EJHG 2001;9(7):556-8.
2001: M Girard; Philippe Couvert; Alain Carrié; Marc Tardieu; Jamel Chelly; Cherif Beldjord; Thierry Bienvenu
Parental origin of de novo MECP2 mutations in Rett syndrome.
European journal of human genetics : EJHG 2001;9(3):231-6.
2000: Thierry Bienvenu; Vincent des Portes; N McDonell; Alain Carrié; Ramzi Zemni; Philippe Couvert; Hans-Hilger Ropers; Claude Moraine; Hans van Bokhoven; Jean-Pierre Fryns; K Allen; Christopher Walsh; J Boué; Axel Kahn; Jamel Chelly; Cherif Beldjord
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
American journal of medical genetics 2000;93(4):294-8.
2000: Sandrine Laradi; Amel Haj Khelil; Halima Omri; Arbi Chaieb; Touhami Mahjoub; H Benlimam; Fethi Amri; Ali Saad; Abdelhedi Miled; France Leturcq; Jemni Ben Chibani; Cherif Beldjord
[Molecular analysis and prenatal diagnosis of beta-thalassemia: about our experience in central Tunisia].
Annales de biologie clinique 2000;58(4):453-60.
2000: Thierry Bienvenu; Alain Carrié; Nicolas De Roux; Marie-Claude Vinet; Philippe Jonveaux; Philippe Couvert; Laurent Villard; A Arzimanoglou; Cherif Beldjord; Michel Fontes; Marc Tardieu; Jamel Chelly
MECP2 mutations account for most cases of typical forms of Rett syndrome.
Human molecular genetics 2000;9(9):1377-84.
2000: Vincent des Portes; Jean-Marc Pinard; Fiona Francis; Cherif Beldjord; Gérard Ponsot; Jamel Chelly
[Mental retardation and disorders of cortical development].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2000;7 Suppl 2():109s-111s.
2000: Ramzi Zemni; Thierry Bienvenu; Marie-Claude Vinet; abdelaziz sefiani; Alain Carrié; Pierre Billuart; N McDonell; Philippe Couvert; Fiona Francis; Philippe Chafey; Fabien Fauchereau; Gaëlle Friocourt; Vincent des Portes; A Cardona; Suzanna G M Frints; Alfons Meindl; Oliver Brandau; Nathalie Ronce; Claude Moraine; Hans van Bokhoven; Hans-Hilger Ropers; Ralf Sudbrak; Axel Kahn; Jean-Pierre Fryns; Cherif Beldjord; Jamel Chelly
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Nature genetics 2000;24(2):167-70.
2000: Pierre Billuart; Jamel Chelly; Alain Carrié; Marie-Claude Vinet; Philippe Couvert; N McDonell; Ramzi Zemni; Axel Kahn; Claude Moraine; Cherif Beldjord; Thierry Bienvenu
Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation.
Annales de génétique 2000;43(1):5-9.
1999: Thierry Bienvenu; S Bousquet; Isabelle Souville; Cherif Beldjord
[Interference of P1290 P polymorphism (4002 A--> G) in molecular diagnosis of mucoviscidosis using the cystic fibrosis assay: an example of a diagnostic trap].
Annales de biologie clinique 1999;57(6):741-2.
1999: Alain Carrié; Lin Jun; Thierry Bienvenu; Marie-Claude Vinet; N McDonell; Philippe Couvert; Ramzi Zemni; A Cardona; Griet Van Buggenhout; Suzanna G M Frints; Ben Hamel; Claude Moraine; Hans-Hilger Ropers; T Strom; G R Howell; A Whittaker; Mark T Ross; Axel Kahn; Jean-Pierre Fryns; Cherif Beldjord; Peter Marynen; Jamel Chelly
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
Nature genetics 1999;23(1):25-31.
1999: Lamia Ben Jemaa; Vincent des Portes; Ramzi Zemni; Ridha Mrad; Faouzi Maazoul; Cherif Beldjord; Habiba Chaabouni; Jamel Chelly
Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54).
American journal of medical genetics 1999;85(3):276-82.
1999: Vincent des Portes; Cherif Beldjord; Jamel Chelly; Ben Hamel; H Kremer; A Smits; Hans van Bokhoven; Hans-Hilger Ropers; S Claes; J P Fryns; Nathalie Ronce; Chantal Gendrot; Annick Toutain; Martine Raynaud; Claude Moraine
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.
American journal of medical genetics 1999;85(3):263-5.
1999: Alain Carrié; V Nepotes; Pierre Billuart; Cherif Beldjord; Thierry Bienvenu; Jamel Chelly; T Bruls; R Heilig; J Weissenbach; Lin Jun; Peter Marynen
Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1.
American journal of medical genetics 1999;85(3):252-4.
1998: Pierre Billuart; Thierry Bienvenu; Nathalie Ronce; Vincent des Portes; Marie-Claude Vinet; Ramzi Zemni; Alain Carrié; Cherif Beldjord; Axel Kahn; Claude Moraine; Jamel Chelly
Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.
Pathologie-biologie 1998;46(9):678.
1998: François Cartault; J Steffann; D Vidaud; S Bousquet; F Lesure; Michel Renouil; N McDonell; J Feingold; Cherif Beldjord; Thierry Bienvenu
Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)
Clinical genetics 1998;54(5):437-9.
1998: Thierry Bienvenu; Vincent des Portes; A Saint Martin; N McDonell; Pierre Billuart; Alain Carrié; Marie-Claude Vinet; Philippe Couvert; D Toniolo; Hans-Hilger Ropers; Claude Moraine; Hans van Bokhoven; Jean-Pierre Fryns; Axel Kahn; Cherif Beldjord; Jamel Chelly
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Human molecular genetics 1998;7(8):1311-5.
1998: Alix de La Coste; Béatrice Romagnolo; Pierre Billuart; Claire-Angélique Renard; Marie Annick Buendia; Olivier Soubrane; Monique Fabre; Jamel Chelly; Cherif Beldjord; Axel Kahn; Christine Perret
Somatic mutations of the beta-catenin gene are frequent in mouse and human hepatocellular carcinomas.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(15):8847-51.
1998: Vincent des Portes; Fiona Francis; Jean-Marc Pinard; Isabelle Desguerre; Marie-Laure Moutard; I Snoeck; Linda C Meiners; F Capron; R Cusmai; S Ricci; Jacques Motte; Bernard Echenne; Gérard Ponsot; O Dulac; Jamel Chelly; Cherif Beldjord
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
Human molecular genetics 1998;7(7):1063-70.
1998: Pierre Billuart; Thierry Bienvenu; Nathalie Ronce; Vincent des Portes; Marie-Claude Vinet; Ramzi Zemni; H Roest Crollius; Alain Carrié; Fabien Fauchereau; M Cherry; Sylvain Briault; Ben Hamel; Jean-Pierre Fryns; Cherif Beldjord; Axel Kahn; Claude Moraine; Jamel Chelly
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
Nature 1998;392(6679):923-6.
1998: Vincent des Portes; Alain Carrié; Pierre Billuart; Virginie Kieffer; Thierry Bienvenu; Marie-Claude Vinet; Cherif Beldjord; A Kahn; Gérard Ponsot; Jamel Chelly; Marie-Laure Moutard
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation.
Clinical genetics 1998;53(2):136-41.
1998: Vincent des Portes; Jean-Marc Pinard; Pierre Billuart; Marie-Claude Vinet; Annette Koulakoff; Alain Carrié; A Gelot; E Dupuis; Jacques Motte; Y Berwald-Netter; M Catala; Axel Kahn; Cherif Beldjord; Jamel Chelly
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.
Cell 1998;92(1):51-61.
1998: Thierry Bienvenu; S Bousquet; Dominique Vidaud; Dominique Hubert; C Francoual; Cherif Beldjord; Jean-Claude Kaplan
A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.
Human mutation 1998;12(3):213-4.
1998: J Steffann; Dominique Vidaud; S Bousquet; M Jullien; A Ninot; Jean-Claude Kaplan; Cherif Beldjord; Thierry Bienvenu
Novel double mutant CF allele identified in a cystic fibrosis patient with meconium ileus.
Annales de génétique 1998;41(4):213-5.
1998: Thierry Bienvenu; Jacques Lepercq; J P Allard; Dominique Hubert; C Francoual; Cherif Beldjord; Jean-Claude Kaplan
Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family.
Annales de génétique 1998;41(1):63-4.
1998: S C Deqaqi; M N'Guessan; J Forner; A Sbiti; Cherif Beldjord; Jamel Chelly; abdelaziz sefiani; Vincent des Portes
A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11.
Annales de génétique 1998;41(1):11-6.
1997: Sylvie Chevillard; Jérôme Lebeau; Pierre Pouillart; C de Toma; Cherif Beldjord; Bernard Asselain; Jerzy Klijanienko; Alain Fourquet; Henri Magdelénat; Philippe Vielh
Biological and clinical significance of concurrent p53 gene alterations, MDR1 gene expression, and S-phase fraction analyses in breast cancer patients treated with primary chemotherapy or radiotherapy.
Clinical cancer research : an official journal of the American Association for Cancer Research 1997;3(12 Pt 1):2471-8.
1997: Vincent des Portes; N Soufir; Alain Carrié; Pierre Billuart; Thierry Bienvenu; Marie-Claude Vinet; Cherif Beldjord; Gérard Ponsot; Axel Kahn; J Boué; Jamel Chelly
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.
American journal of medical genetics 1997;72(3):324-8.
1997: Alain Carrié; Federica Piccolo; France Leturcq; C de Toma; K Azibi; Cherif Beldjord; J M Vallat; Luciano Merlini; T Voit; Caroline Sewry; J Andoni Urtizberea; Norma B Romero; Fernando M S Tomé; Michel Fardeau; Y Sunada; Kevin P Campbell; Jean-Claude Kaplan; Marc Jeanpierre
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Journal of medical genetics 1997;34(6):470-5.
1997: Thierry Bienvenu; S Bousquet; Stanislas LYONNET; Jean-Claude Kaplan; Cherif Beldjord
1283 del A: a novel mutation in exon 8 of the cystic fibrosis gene.
Human heredity 1997;47(3):173-5.
1997: Vincent des Portes; Pierre Billuart; Alain Carrié; L Bachner; Thierry Bienvenu; Marie-Claude Vinet; Cherif Beldjord; Gérard Ponsot; Axel Kahn; J Boué; Jamel Chelly
A gene for dominant nonspecific X-linked mental retardation is located in Xq28.
American journal of human genetics 1997;60(4):903-9.
1997: Thierry Bienvenu; H Der-Sarkissian; Pierre Billuart; M Tissot; Vincent des Portes; T Brüls; J P Chabrolle; P Chauveau; M Cherry; Axel Kahn; D Cohen; Cherif Beldjord; Jamel Chelly; D Cherif
Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.
European journal of human genetics : EJHG 1997;5(2):105-9.
1997: Vincent des Portes; Jean-Marc Pinard; D Smadja; Jacques Motte; O Boespflüg-Tanguy; Marie-Laure Moutard; Isabelle Desguerre; Pierre Billuart; A Carrie; Thierry Bienvenu; Marie-Claude Vinet; L Bachner; Cherif Beldjord; O Dulac; Axel Kahn; Gérard Ponsot; Jamel Chelly
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
Journal of medical genetics 1997;34(3):177-83.
1997: Thierry Bienvenu; M Adjiman; Nicolas Thiounn; Marc Jeanpierre; Dominique Hubert; J Lepercoq; C Francoual; J Wolf; Vincent Izard; Pierre Jouannet; Jean-Claude Kaplan; Cherif Beldjord
Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients.
Annales de génétique 1997;40(1):5-9.
1996: Marc Jeanpierre; Alain Carrié; Federica Piccolo; France Leturcq; K Azibi; C de Toma; Cherif Beldjord; Luciano Merlini; T Voit; Norma B Romero; Y Sunada; Fernando M S Tomé; M Fardeau; Kevin P Campbell; Jean-Claude Kaplan
From adhalinopathies to alpha-sarcoglycanopathies: an overview.
Neuromuscular disorders : NMD 1996;6(6):463-5.
1996: Vincent des Portes; L Bachner; T Brüls; Cherif Beldjord; Pierre Billuart; N Soufir; Thierry Bienvenu; Marie-Claude Vinet; E Malaspina; V Marchiani; E Bertini; Axel Kahn; E Franzoni; Jamel Chelly
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.
American journal of medical genetics 1996;64(1):69-72.
1996: Pierre Billuart; Marie-Claude Vinet; Vincent des Portes; Stéphane Llense; L Richard; Marie-Laure Moutard; Dominique Recan; T Brüls; Thierry Bienvenu; Axel Kahn; Cherif Beldjord; Jamel Chelly
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.
Human molecular genetics 1996;5(7):977-9.
1996: Thierry Bienvenu; François Cartault; F Lesure; Michel Renouil; Cherif Beldjord; Jean-Claude Kaplan
A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.
Human heredity 1996;46(3):168-71.
1996: Sylvie Chevillard; Pierre Pouillart; Cherif Beldjord; Bernard Asselain; Philippe Beuzeboc; Henri Magdelénat; Philippe Vielh
Sequential assessment of multidrug resistance phenotype and measurement of S-phase fraction as predictive markers of breast cancer response to neoadjuvant chemotherapy.
Cancer 1996;77(2):292-300.
1996: Thierry Bienvenu; Cherif Beldjord; Jamel Chelly; N Fonknechten; Dominique Hubert; Daniel Dusser; Jean-Claude Kaplan
Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients.
European journal of human genetics : EJHG 1996;4(3):127-34.
1996: Thierry Bienvenu; Dominique Hubert; E Setbon; Daniel Dusser; Jean-Claude Kaplan; Cherif Beldjord
A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients.
Human mutation 1996;7(2):182.
1995: Cherif Beldjord; F Desclaux-Arramond; Marie-Laure Raffin-Sanson; J C Corvol; Yves de Keyzer; Jean Pierre Luton; P F Plouin; Xavier Bertagna
The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects.
The Journal of clinical endocrinology and metabolism 1995;80(7):2063-8.
1995: Federica Piccolo; Steven Roberds; Marc Jeanpierre; France Leturcq; K Azibi; Cherif Beldjord; Alain Carrié; D Récan; M Chaouch; A Reghis
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.
Nature genetics 1995;10(2):243-5.
1995: Thierry Bienvenu; V Lacronique; Michel Raymondjean; C Cazeneuve; Dominique Hubert; Jean-Claude Kaplan; Cherif Beldjord
Three novel sequence variations in the 5' upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect.
Human genetics 1995;95(6):698-702.
1995: C Cazeneuve; Cherif Beldjord; Jean-Claude Kaplan; Thierry Bienvenu
Diagnostic usefulness of the polymorphism of the GT dinucleotide and the polythymidine tract in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Annales de génétique 1995;38(4):202-5.
1995: Thierry Bienvenu; C Cazeneuve; Jean-Claude Kaplan; Cherif Beldjord
Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide.
Human mutation 1995;6(1):23-9.
1995: Thierry Bienvenu; C Cazeneuve; Isabelle Fajac; Daniel Dusser; Dominique Hubert; Jean-Claude Kaplan; Cherif Beldjord
Identification of a novel missense mutation G239R in exon 6a of the CFTR gene.
Human heredity 1995;45(1):53-4.
1994: Yves de Keyzer; C Auzan; F Lenne; Cherif Beldjord; Marc Thibonnier; Xavier Bertagna; Eric Clauser
Cloning and characterization of the human V3 pituitary vasopressin receptor.
FEBS letters 1994;356(2-3):215-20.
1994: Thierry Bienvenu; Dominique Hubert; N Fonknechten; Daniel Dusser; Jean-Claude Kaplan; Cherif Beldjord
Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.
Human genetics 1994;94(1):65-8.
1994: C Bennani; R Bouhass; P Perrin-Pecontal; R Tamouza; M Malou; Jacques Elion; G Trabuchet; Cherif Beldjord; M Benabadji; Dominique Labie
Anthropological approach to the heterogeneity of beta-thalassemia mutations in northern Africa.
Human biology 1994;66(3):369-82.
1994: Thierry Bienvenu; C Cazeneuve; Cherif Beldjord; Daniel Dusser; Jean-Claude Kaplan; Dominique Hubert
A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.
Human molecular genetics 1994;3(2):365-6.
1994: Thierry Bienvenu; P Petitpretz; Cherif Beldjord; Jean-Claude Kaplan
A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.
Human mutation 1994;3(4):395-6.
1994: Thierry Bienvenu; G Lenoir; N Fonknechten; F Desclaux-Arramond; Jean-Claude Kaplan; Cherif Beldjord
Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.
Human mutation 1994;3(1):69-70.
1994: Luc Thiberville; Jeannette Bourguignon; Cherif Beldjord; Maryam Diarra-Mehrpour; G Nouvet; Jean-Pierre Martin
Detection by the polymerase chain reaction of two polymorphisms in exon 14 of the human inter-alpha-trypsin inhibitor heavy chain H1 gene.
Human genetics 1994;93(1):91-2.
1993: N Fonknechten; Thierry Bienvenu; C Moriscot; Cherif Beldjord; Axel Kahn; C Figarella; Jean-Claude Kaplan
Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals.
Human molecular genetics 1993;2(12):2141-2.
1993: E Fernandez; Thierry Bienvenu; F Desclaux Arramond; K Beldjord; Jean-Claude Kaplan; Cherif Beldjord
Use of chemical clamps in denaturing gradient gel electrophoresis: application in the detection of the most frequent Mediterranean beta-thalassemic mutations.
PCR methods and applications 1993;3(2):122-4.
1993: K Beldjord; Cherif Beldjord; Elizabeth Macintyre; P Even; François Sigaux
Peripheral selection of V delta 1+ cells with restricted T cell receptor delta gene junctional repertoire in the peripheral blood of healthy donors.
The Journal of experimental medicine 1993;178(1):121-7.
1993: Thierry Bienvenu; Cherif Beldjord; N Fonknechten; Jean-Claude Kaplan; G Lenoir
Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
Journal of medical genetics 1993;30(7):621-2.
1993: C Bennani; R Tamouza; F Rouabhi; M Benabadji; M Malou; Jacques Elion; Dominique Labie; Cherif Beldjord
The spectrum of beta-thalassaemia in Algeria: possible origins of the molecular heterogeneity and a tentative diagnostic strategy.
British journal of haematology 1993;84(2):335-7.
1993: Thierry Bienvenu; S Bousquet; C Herbulot; François Cartault; Jean-Claude Kaplan; Cherif Beldjord
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.
Human mutation 1993;2(4):306-8.
1992: Cherif Beldjord; Rolande Ducrocq; S Nadifi; C Lapoumeroulie; Jacques Elion; Dominique Labie
A haplotype-linked four base pair deletion upstream of the A gamma globin gene coincides with decreased gene expression.
Human genetics 1992;89(6):625-8.
1992: Cherif Beldjord; I Henry; C Bennani; D Vanhaeke; Dominique Labie
Uniparental disomy: a novel mechanism for thalassemia major.
Blood 1992;80(1):287-9.
1992: Thierry Bienvenu; P Sebillon; Dominique Labie; Jean-Claude Kaplan; Cherif Beldjord
Rapid and direct detection of the most frequent Mediterranean beta-thalassemic mutations by multiplex allele-specific enzymatic amplification.
Human biology 1992;64(1):107-13.
1991: P Sebillon; Thierry Bienvenu; R Girot; Dominique Labie; Jean-Claude Kaplan; Cherif Beldjord
Detection of the most frequent beta-thalassemic defect in Southeast Asia by PCR.
Hemoglobin 1991;15(4):313-5.
1990: C Bennani; P Sebillon; R Krishnamoorthy; Dominique Labie; Cherif Beldjord
Rapid detection of a Mediterranean beta (0) beta-thalassemic splice junction mutation by DNA amplification and BsaB1 mapping.
British journal of haematology 1990;76(3):440-1.
1990: Dominique Labie; C Bennani; Cherif Beldjord
Beta-thalassemia in Algeria.
Annals of the New York Academy of Sciences 1990;612():43-54.
1988: F Rouabhi; C Lapouméroulie; S Amselem; R Krishnamoorthy; L Adjrad; R Girot; P Chardin; M Benabdji; Dominique Labie; Cherif Beldjord
DNA haplotype distribution in Algerian beta thalassaemia patients. An extended evaluation by family studies and representative molecular characterization.
Human genetics 1988;79(4):373-6.
1988: Cherif Beldjord; C Lapoumeroulie; Josée Pagnier; M Benabadji; R Krishnamoorthy; Dominique Labie; Arthur Bank
A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2.
Nucleic acids research 1988;16(11):4927-35.
1985: Dominique Labie; Josée Pagnier; C Lapoumeroulie; F Rouabhi; O Dunda-Belkhodja; P Chardin; Cherif Beldjord; H Wajcman; Mary E Fabry; R L Nagel
Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients.
Proceedings of the National Academy of Sciences of the United States of America 1985;82(7):2111-4.
1984: Cherif Beldjord; M Arbane; C Lapoumeroulie; P Rouyer-Fessard; M Benabadji; Dominique Labie; Y Beuzard
Linkage between fetal A gamma globin chain polymorphism and DNA polymorphism of the human beta gene cluster in beta thalassaemia.
Molecular biology & medicine 1984;2(4):301-6.
1984: Josée Pagnier; J G Mears; O Dunda-Belkhodja; K E Schaefer-Rego; Cherif Beldjord; R L Nagel; Dominique Labie
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.
Proceedings of the National Academy of Sciences of the United States of America 1984;81(6):1771-3.
1983: Cherif Beldjord; C Lapouméroulie; M L Baird; R Girot; L Adjrad; G Lenoir; M Benabadji; Dominique Labie
Four new haplotypes observed in Algerian beta-thalassemia patients.
Human genetics 1983;65(2):204-6.
1981: J G Mears; Cherif Beldjord; M Benabadji; Y a Belghiti; M A Baddou; Dominique Labie; R L Nagel
The sickle gene polymorphism in North Africa.
Blood 1981;58(3):599-601.