Digital Repository for Department of Preventive Medicine

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Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission.
Julie Demars, Mansur Ennuri Moftah Shmela, Abdul Waheed Khan , Kai Syin Lee, Salah Azzi, Patrice Dehais, Irène Netchine, Sylvie Rossignol, Yves Le Bouc, Assam El-Osta, Christine Gicquel (7-2014)
Journal of Medical Genetics , 51(8).

Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region
Mansur Ennuri Moftah Shmela, C. F. Gicquel (1-2013)
Journal of Medical Genetics , 50(1).

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
Rebecca L Poole, Donald J Leith, Louise E Docherty, Mansur Ennuri Moftah Shmela, Christine Gicquel,, Miranda Splitt, I Karen Temple, Deborah J G Mackay (2-2012)
European journal of human genetics, 20(2), pp. 140-243.

HDAC2/3 inhibitor MI192 mitigates oligodendrocyte loss and reduces microglial activation upon injury A potential role of epigenetics
Mohamed A Al-Griw, Mansur E Shmela, Mohamed M Elhensheri, Emad M Bennour (11-2011)
جامعة طرابلس, 11(3), pp. 447-457.

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects
- Demars, J., S. Rossignol, I. Netchine, K. S. Lee, Mansur Ennuri Moftah Shmela, L. Faivre, J. Weill, S. Odent, S. Azzi, P. Callier, J. Lucas, C. Dubourg, J. Andrieux, Y. Le Bouc, A. El-Osta , C. Gicquel (10-2011)
Human Mutation, 32(10), pp. 803-814.

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.
Demars, J., Mansur Ennuri Moftah Shmela, S. Rossignol, J. Okabe, I. Netchine, S. Azzi, S. Cabrol, C. Le Caignec, A. David , Y. Le Bouc, A. El-Osta , C. Gicquel (9-2010)
Human Molecular Genetics , 19(5), pp. 803-814.

Evaluation of Three PCR Assays for the Identification of the Sheep Strain (Genotype 1) of Echinococcus granulosus in Canid Feces and Parasite Tissues
Imad Elhadi A Buishi, Belgees S. Boufana (1-2008)
, , pp. 777-783.

Canine echinococcosis in Turkana (north–western Kenya): a coproantigen survey in the previous hydatid-control area and an analysis of risk factors
I.Buishi, P.S. Craig, (3-2006)
, 7(100), pp. 601-610.