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1

A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients

Thierry Bienvenu, Dominique Hubert, Eric Setbon, Daniel Dusser, Jean-Claude Kaplan, Cherif Beldjord

Journal:

Year:

1996

Language:

english

File:

PDF, 106 KB

english, 1996

2

Ocular adnexal lymphoma and Helicobacter pylori gastric infection

Didier Decaudin, Agnès Ferroni, Anne Vincent-Salomon, Kheira Beldjord, Pierre Validire, Patricia de Cremoux, Patricia Validire, Corine Plancher, Claire Mathiot, Elizabeth Macintyre, Bernard Asselain,

Journal:

American Journal of Hematology

Year:

2010

Language:

english

File:

PDF, 243 KB

english, 2010

3

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis

Quelin, Chloe, Saillour, Yoann, Poirier, Karine, Roubertie, Agathe, Boddaert, Nathalie, Desguerre, Isabelle, Letourneur, Frank, Beldjord, Cherif, Chelly, Jamel, Bahi-Buisson, Nadia

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 728 KB

english, 2012

4

A Splicing Mutation in Intron 16 of the Cystic Fibrosis Transmembrane Conductance Regulator Gene, Associated with Severe Disease, Is Common on Reunion Island

Bienvenu, T., Cartault, F., Lesure, F., Renouil, M., Beldjord, C., Kaplan, J.C.

Journal:

Year:

1996

File:

PDF, 674 KB

1996

5

X-chromosome inactivation in female patients with Fabry disease

Echevarria, L., Benistan, K., Toussaint, A., Dubourg, O., Hagege, A.A., Eladari, D., Jabbour, F., Beldjord, C., De Mazancourt, P., Germain, D.P.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 552 KB

english, 2016

6

Ovaires : variations physiologiques et pathologies fonctionnelles

Bazot, M., Fédida, B., Dechoux-Vodovar, S., Beldjord, S., Thomassin-Naggara, I.

Journal:

Feuillets de Radiologie

Year:

2016

File:

PDF, 3.75 MB

2016

7

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter

des Portes, V., Bachner, L., Brüls, T., Beldjord, C., Billuart, P., Soufir, N., Bienvenu, Th., Vinet, M. C., Malaspina, E., Marchiani, V., Bertini, E., Kahn, A., Franzoni, E., Chelly, J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 373 KB

english, 1996

8

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24

des Portes, Vincent, Soufir, Nadem, Carrié, Alain, Billuart, Pierre, Bienvenu, Thierry, Vinet, Marie Claude, Beldjord, Cherif, Ponsot, Gérard, Kahn, Axel, Boué, Joelle, Chelly, Jamel

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 84 KB

english, 1997

9

Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1

Carri�, Alain, Nepotes, Virginie, Billuart, Pierre, Beldjord, Ch�rif, Bienvenu, Thierry, Chelly, Jamel, Bruls, Thomas, Heilig, Roland, Weissenbach, Jean, Jun, Lin, Marynen, Peter

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 72 KB

english, 1999

10

Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)

Jemaa, Lamia Ben, des Portes, Vincent, Zemni, Ramzi, Mrad, Ridha, Maazoul, Faouzi, Beldjord, Ch�rif, Chaabouni, Habiba, Chelly, Jamel

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 233 KB

english, 1999

11

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR consortium

des Portes, Vincent, Beldjord, Ch�rif, Chelly, Jamel, Hamel, Ben, Kremer, Hannie, Smits, Arie, van Bokhoven, Hans, Ropers, Hans-Hilger, Claes, Stephan, Fryns, Jean Pierre, Ronce, Nathalie, Gendrot, Ch

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 71 KB

english, 1999

12

Sequential assessment of multidrug resistance phenotype and measurement of S-phase fraction as predictive markers of breast cancer response to neoadjuvant chemotherapy

Sylvie Chevillard, Pierre Pouillart, Chérif Beldjord, Bernard Asselain, Philippe Beuzeboc, Henri Magdelénat, Philippe Vielh

Journal:

Year:

1996

Language:

english

File:

PDF, 698 KB

english, 1996

13

Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients

Thierry Bienvenu, Lilien Chertkoff, Cherif Beldjord, Edgardo Segal, Luis Carniglia, Cristina Barreiro, Jean-Claude Kaplan

Journal:

Year:

1996

Language:

english

File:

PDF, 219 KB

english, 1996

14

A g5580 T>C variant located between the two polyadenylation sites of the interleukin-11 (IL11) gene

Thierry Bienvenu, Dominique Hubert, Daniel Dusser, Cherif Beldjord

Journal:

Year:

1999

Language:

english

File:

PDF, 12 KB

english, 1999

15

Genetic epidemiology of β-thalassemia in sicily: Do sequences 5′ to the Gγ gene and 5′ to the β gene interact to enhance HbF expression in β-thalassemia?

Angela Ragusa, Mario Lombardo, Cherif Beldjord, Concetta Ruberto, Turi Lombardo, Jacques Elion, Dr. Ronald L. Nagel, Rajagopal Krishnamoorthy

Journal:

American Journal of Hematology

Year:

1992

Language:

english

File:

PDF, 627 KB

english, 1992

16

Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder

Patrick Vourc'h, Elisabeth Petit, Jean Pierre Müh, Christian Andres, Thierry Bienvenu, Cherif Beldjord, Jamel Chelly, Catherine Barthélémy

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 53 KB

english, 2002

17

Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different

Géraldine Viot, Pascale Sonigo, Isabelle Simon, Brigitte Simon-Bouy, Frédéric Chadeyron, Cherif Beldjord, Julia Tantau, Jelena Martinovic, Chantal Esculpavit, Francis Brunelle, Arnold Munnich, Michel

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 238 KB

english, 2004

18

Five years of molecular diagnosis of Fragile X syndrome (1997–2001): A collaborative study reporting 95% of the activity in France

Valérie Biancalana, Chérif Beldjord, Agnès Taillandier, Sylvie Szpiro-Tapia, Véronica Cusin, Fabienne Gerson, Christophe Philippe, Jean-Louis Mandel

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 126 KB

english, 2004

19

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy

Thierry Bienvenu, Isabelle Souville, Karine Poirier, Cécile Aquaviva, Lydie Burglen, Jeanne Amiel, Bénédicte Héron, Anna Kaminska, Philippe Couvert, Cherif Beldjord, Jamel Chelly

Journal:

Year:

2001

Language:

english

File:

PDF, 21 KB

english, 2001

20

Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island

T. Bienvenu, S. Bousquet, C. Herbulot, F. Cartault, J.-C. Kaplan, C. Beldjord

Journal:

Year:

1993

Language:

english

File:

PDF, 206 KB

english, 1993

21

Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene

Thierry Bienvenu, Gérard Lenoir, Nuria Fonknechten, François Desclaux-Arramond, Jean Claude Kaplan, Cherif Beldjord

Journal:

Year:

1994

Language:

english

File:

PDF, 271 KB

english, 1994

22

A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene

T. Bienvenu, P. Petitpretz, C. Beldjord, J. C. Kaplan

Journal:

Year:

1994

Language:

english

File:

PDF, 266 KB

english, 1994

23

Mutation heterogeneity of cystic fibrosis in France: Screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide

Thierry Bienvenu, Cecile Cazeneuve, Jean-Claude Kaplan, Cherif Beldjord

Journal:

Year:

1995

Language:

english

File:

PDF, 595 KB

english, 1995

24

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: A new case of ARX-related epilepsy

Karine Poirier, Monika Eisermann, Isabelle Caubel, Anna Kaminska, Sylviane Peudonnier, Nathalie Boddaert, Yoann Saillour, Olivier Dulac, Isabelle Souville, Chérif Beldjord, Karine Lascelles, Perrine P

Journal:

Epilepsy Research

Year:

2008

Language:

english

File:

PDF, 803 KB

english, 2008

25

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy

Rima Nabbout, Christel Depienne, Mathilde Chipaux, Benoit Girard, Isabelle Souville, Oriane Trouillard, Olivier Dulac, Jamel Chelly, Alexandra Afenjar, Delphine Héron, Eric Leguern, Cherif Beldjord, T

Journal:

Epilepsy Research

Year:

2009

Language:

english

File:

PDF, 157 KB

english, 2009

26

P-48 rap1b point mutations homologousto activating RAS mutations are uncommon during MDS leukemic transformation

E. Gyan, D. Bowen, M. Frew, C. Beldjord, C. Preudhomme, F. Dreyfus, P. Mayeux, C. Lacombe, F. Porteu, M. Fontenay

Journal:

Leukemia Research

Year:

2005

Language:

english

File:

PDF, 77 KB

english, 2005

27

Overexpression of vasopressin (V3) and corticotrophin-releasing hormone receptor genes in corticotroph tumours

Y. De Keyzer, P. René, C. Beldjord, F. Lenne, X. Bertagna

Journal:

Clinical Endocrinology

Year:

1998

Language:

english

File:

PDF, 299 KB

english, 1998

28

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

Thierry Bienvenu, Virginie Lacronique, Michel Raymondjean, Cecile Cazeneuve, Dominique Hubert, Jean-Claude Kaplan, Cherif Beldjord

Journal:

Year:

1995

Language:

english

File:

PDF, 860 KB

english, 1995

29

Detection by the polymerase chain reaction of two polymorphisms in exon 14 of the human inter-α-trypsin inhibitor heavy chain H1 gene

L. Thiberville, J. Bourguignon, C. Beldjord, M. Diarra-Mehrpour, G. Nouvet, J. P. Martin

Journal:

Year:

1994

Language:

english

File:

PDF, 316 KB

english, 1994

30

A haplotype-linked four base pair deletion upstream of the Aγ globin gene coincides with decreased gene expression

Cherif Beldjord, Rolande Ducrocq, Sellama Nadifi, Claudine Lapoumeroulie, Jacques Elion, Dominique Labie

Journal:

Year:

1992

Language:

english

File:

PDF, 496 KB

english, 1992

31

DNA haplotype distribution in Algerian β thalassaemia patients

F. Rouabhi, C. Lapouméroulie, S. Amselem, R. Krishnamoorthy, L. Adjrad, R. Girot, P. Chardin, M. Benabdji, D. Labie, C. Beldjord

Journal:

Year:

1988

Language:

english

File:

PDF, 424 KB

english, 1988

32

Four new haplotypes observed in Algerian β-thalassemia patients

C. Beldjord, Claudine Lapouméroulie, M. L. Baird, R. Girot, Leila Adjrad, G. Lenoir, M. Benabadji, D. Labie

Journal:

Year:

1983

Language:

english

File:

PDF, 326 KB

english, 1983

33

Unexpected inactivation of acceptor consensus splice sequence by a −3 C to T transition in intron 2 of the CFTR gene

Thierry Bienvenu, Dominique Hubert, Nuria Fonknechten, Daniel Dusser, Jean Claude Kaplan, Cherif Beldjord

Journal:

Year:

1994

Language:

english

File:

PDF, 528 KB

english, 1994

34

Evidence for tangential migration disturbances in human lissencephaly resulting from a defect inLIS1,DCXandARXgenes

Pascale Marcorelles, Annie Laquerrière, Christine Adde-Michel, Stéphane Marret, Pascale Saugier-Veber, Chérif Beldjord, Gaëlle Friocourt

Journal:

Acta Neuropathologica

Year:

2010

Language:

english

File:

PDF, 748 KB

english, 2010

35

Maternal mosaicism for mutations in theARXgene in a family with X linked mental retardation

K. Poirier, J. Abriol, I. Souville, C. Laroche-Raynaud, C. Beldjord, B. Gilbert, J. Chelly, T. Bienvenu

Journal:

Year:

2005

Language:

english

File:

PDF, 311 KB

english, 2005

36

Screening ofARXin mental retardation families: consequences for the strategy of molecular diagnosis

K. Poirier, D. Lacombe, B. Gilbert-Dussardier, M. Raynaud, V. Desportes, A. P. M. de Brouwer, C. Moraine, J. P. Fryns, H. H. Ropers, C. Beldjord, J. Chelly, T. Bienvenu

Journal:

Year:

2006

Language:

english

File:

PDF, 168 KB

english, 2006

37

Actuarial rate of clinical and biological progression in a cohort of 250 HIV-1-seropositive subjects

A. VENET, J.-M. TOURANI, K. BELDJORD, D. EME, P. EVEN, J.-M. ANDRIEU

Journal:

Clinical & Experimental Immunology

Year:

1990

Language:

english

File:

PDF, 1.60 MB

english, 1990

38

Autoreactive cytotoxicity in HIV-infected individuals

D. ISRAËL-BIET, A. VENET, K. BELDJORD, J. M. ANDRIEU, P. EVEN

Journal:

Clinical & Experimental Immunology

Year:

1990

Language:

english

File:

PDF, 2.80 MB

english, 1990

39

Inherited microdeletion in Xp21.3–22.1 involved in non-specific mental retardation

Vincent des Portes, Alain Carrié, Pierre Billuare, Virginie Kieffer, Thierry Bienvenu, Marie Claude Vinet, Cherif Beldjord, Axel Kahn, Gérard Ponsot, Jamel Chelly, Marie Laure Moutard

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.18 MB

english, 1998

40

Human disorders of cortical development: from past to present

Fiona Francis, Gundela Meyer, Catherine Fallet-Bianco, Sarah Moreno, Caroline Kappeler, Alfredo Cabrera Socorro, Françoise Phan Dinh Tuy, Cherif Beldjord, Jamel Chelly

Journal:

European Journal of Neuroscience

Year:

2006

Language:

english

File:

PDF, 4.22 MB

english, 2006

41

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

Henry, I., Bonaiti-Pellié, C., Chehensse, V., Beldjord, C., Schwartz, C., Utermann, G., Junien, C.

Journal:

Year:

1991

File:

PDF, 344 KB

1991

42

PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study

Familiades, J, Bousquet, M, Lafage-Pochitaloff, M, Béné, M-C, Beldjord, K, De Vos, J, Dastugue, N, Coyaud, E, Struski, S, Quelen, C

Journal:

Year:

2009

Language:

english

File:

PDF, 431 KB

english, 2009

43

Expression of cell–cell interacting genes distinguishes HLXB9/TEL from MLL-positive childhood acute myeloid leukemia

Wildenhain, S, Ruckert, C, Röttgers, S, Harbott, J, Ludwig, W-D, Schuster, F R, Beldjord, K, Binder, V, Slany, R, Hauer, J

Journal:

Year:

2010

Language:

english

File:

PDF, 325 KB

english, 2010

44

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

Piccolo, F., Roberds, S.L., Jeanpierre, M., Leturcq, F., Azibi, K., Beldjord, C., Carrié, A., Récan, D., Chaouch, M., Reghis, A.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 387 KB

1995

45

Parental origin of de novo MECP2 mutations in Rett syndrome

Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif, Bienvenu, Thierry

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 139 KB

english, 2001

46

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients

Vourc'h, Patrick, Bienvenu, Thierry, Beldjord, Cherif, Chelly, Jamel, Barthélémy, Catherine, Müh, Jean Pierre, Andres, Christian

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 74 KB

english, 2001

47

Genetics and pathophysiology of mental retardation

Chelly, Jamel, Khelfaoui, Malik, Francis, Fiona, Chérif, Beldjord, Bienvenu, Thierry

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 177 KB

english, 2006

48

Rapid, multifluorescent TCRG Vγ and Jγ typing: application to T cell acute lymphoblastic leukemia and to the detection of minor clonal populations

Delabesse, E, Burtin, M-L, Millien, C, Madonik, A, Arnulf, B, Beldjord, K, Valensi, F, Macintyre, E A

Journal:

Year:

2000

Language:

english

File:

PDF, 395 KB

english, 2000

49

Reply to van Wering et al

Delabesse, E, Beldjord, K, Cayuela, J-M, Millien, C, Macintyre, E

Journal:

Year:

2001

Language:

english

File:

PDF, 66 KB

english, 2001

50

IgH DJ rearrangements within T-ALL correlate with cCD79a expression, an immature/TCRγδ phenotype and absence of IL7Rα/CD127 expression

Asnafi, V, Beldjord, K, Garand, R, Millien, C, Bahloul, M, LeTutour, P, Douay, L, Valensi, F, Macintyre, E

Journal:

Year:

2004

Language:

english

File:

PDF, 152 KB

english, 2004