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Salah Azzi

Showing results (11-20 of 27) with videos related to

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Science Advances|February 26, 2019
Transcriptional profiling at the <i>DLK1/MEG3</i> domain explains clinical overlap between imprinting disordersWalid Abi Habib, Frédéric Brioude, Salah Azzi, et al.
Human Molecular Genetics|September 17, 2009
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted lociSalah Azzi, Sylvie Rossignol, Virginie Steunou, et al.
The Journal of Clinical Endocrinology and Metabolism|September 24, 2009
Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain developmentIrène Netchine, Salah Azzi, Muriel Houang, et al.
European Journal of Medical Genetics|July 30, 2013
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategyBoris Keren, Sandra Chantot-Bastaraud, Frédéric Brioude, et al.
Journal of Medical Genetics|July 6, 2014
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmissionJulie Demars, Mansur Ennuri Shmela, Abdul Waheed Khan, et al.
Human Mutation|October 5, 2016
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell SyndromeWalid Abi Habib, Frederic Brioude, Salah Azzi, et al.
Human Mutation|May 8, 2013
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1bStéphanie Maupetit-Méhouas, Salah Azzi, Virginie Steunou, et al.
Human Molecular Genetics|December 17, 2009
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disordersJulie Demars, Mansur Ennuri Shmela, Sylvie Rossignol, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2017
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restrictionWalid Abi Habib, Frédéric Brioude, Thomas Edouard, et al.
Journal of Medical Genetics|November 15, 2014
Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndromeSalah Azzi, Virginie Steunou, Jörg Tost, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
Science Advances|February 26, 2019
Transcriptional profiling at the <i>DLK1/MEG3</i> domain explains clinical overlap between imprinting disordersWalid Abi Habib, Frédéric Brioude, Salah Azzi, et al.
Human Molecular Genetics|September 17, 2009
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted lociSalah Azzi, Sylvie Rossignol, Virginie Steunou, et al.
The Journal of Clinical Endocrinology and Metabolism|September 24, 2009
Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain developmentIrène Netchine, Salah Azzi, Muriel Houang, et al.
European Journal of Medical Genetics|July 30, 2013
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategyBoris Keren, Sandra Chantot-Bastaraud, Frédéric Brioude, et al.
Journal of Medical Genetics|July 6, 2014
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmissionJulie Demars, Mansur Ennuri Shmela, Abdul Waheed Khan, et al.
Human Mutation|October 5, 2016
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell SyndromeWalid Abi Habib, Frederic Brioude, Salah Azzi, et al.
Human Mutation|May 8, 2013
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1bStéphanie Maupetit-Méhouas, Salah Azzi, Virginie Steunou, et al.
Human Molecular Genetics|December 17, 2009
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disordersJulie Demars, Mansur Ennuri Shmela, Sylvie Rossignol, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2017
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restrictionWalid Abi Habib, Frédéric Brioude, Thomas Edouard, et al.
Journal of Medical Genetics|November 15, 2014
Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndromeSalah Azzi, Virginie Steunou, Jörg Tost, et al.
Pageof 3