Mansur E Shmela

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

Julie Demars, Mansur E Shmela, Sylvie Rossignol et al. · Human Molecular Genetics · 2009 · 124 citations · Full text

Human Growth, Epigenetic Change, Genetics +21

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

Rebecca Poole, Donald J Leith, Louise E Docherty et al. · European Journal of Human Genetics · 2011 · 64 citations · Full text

Transcriptional Regulation, Developmental Biology, Mendelian Disorder +9

New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

Julie Demars, Sylvie Rossignol, Irène Netchine et al. · Human Mutation · 2011 · 61 citations · Full text

Genetic variants within the second intron of the <i>KCNQ1</i> gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission

Julie Demars, Mansur E Shmela, Abdul Waheed Khan et al. · Journal of Medical Genetics · 2014 · 15 citations

Blood Profile in Normal One Humped Dromedary (Camelus Dromedarius) Camels in Libya. Part 3: Effect of Sex Variation on Biochemical and Haematological Blood Profile

Anwar Abdalmula, Fathia M Benashour, Mansur E Shmela et al. · International Journal of Sciences: Basic and Applied Research · 2019 · 10 citations