يعرض 1 - 10 نتائج من 13 نتيجة بحث عن '"Azzi, Salah"', وقت الاستعلام: 0.63s تنقيح النتائج
  1. 1
    دورية أكاديمية
    11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome

    المؤلفون: Abi Habib, Walid, Brioude, Frederic, Azzi, Salah, Salem, Jennifer, das Neves, Cristina, Personnier, Claire, Chantot-Bastaraud, Sandra, Keren, Boris, Le Bouc, Yves, Harbison, Madeleine, D, Netchine, Irene

    المساهمون: Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), The Babraham Institute Cambridge, UK, CHI Poissy-Saint-Germain, Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Icahn School of Medicine at Mount Sinai New York (MSSM), This work was supported by the Institut National de la Santé Et de la Recherche Médicale (INSERM),funding from the Université Pierre et Marie Curie (UPMC-Paris6), the Agence Nationale de laRecherche (ANR EPIFEGRO 2010), a Pfizer grant, and a 2010 grant from Agence de Biomédecine.WAH was supported by the People Programme (Marie Curie Actions) of the European Union's SeventhFramework Programme FP7/ITN Ingenium 2007-2013/ under REA grant agreement n° 290123 and bythe Société Française d'Endocrinologie et Diabétologie Pédiatrique with a Lilly grant.F.B was supported by Novonordisk Grant « Growth Hormone, Growth and Metabolism ».

    المصدر: ISSN: 1059-7794.

    مصطلحات موضوعية: IGF2/H19 imprinted domain, imprinting control region 1, deletions, hypomethylation, Silver-Russell syndrome, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27701793; hal-04026539; https://hal.science/hal-04026539Test; https://hal.science/hal-04026539/documentTest; https://hal.science/hal-04026539/file/Habib_et_al-2016-Human_Mutation.pdfTest; PUBMED: 27701793; WOS: 000390349700013

    الإتاحة: https://doi.org/10.1002/humu.23131Test
    https://hal.science/hal-04026539Test
    https://hal.science/hal-04026539/documentTest
    https://hal.science/hal-04026539/file/Habib_et_al-2016-Human_Mutation.pdfTest

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  2. 2
    دورية أكاديمية
    11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome

    المؤلفون: Abi Habib, Walid, Brioude, Frederic, Azzi, Salah, Salem, Jennifer, das Neves, Cristina, Personnier, Claire, Chantot-Bastaraud, Sandra, Keren, Boris, Le Bouc, Yves, Harbison, Madeleine, D, Netchine, Irene

    المساهمون: Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), The Babraham Institute Cambridge, UK, CHI Poissy-Saint-Germain, Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Icahn School of Medicine at Mount Sinai New York (MSSM), This work was supported by the Institut National de la Santé Et de la Recherche Médicale (INSERM),funding from the Université Pierre et Marie Curie (UPMC-Paris6), the Agence Nationale de laRecherche (ANR EPIFEGRO 2010), a Pfizer grant, and a 2010 grant from Agence de Biomédecine.WAH was supported by the People Programme (Marie Curie Actions) of the European Union's SeventhFramework Programme FP7/ITN Ingenium 2007-2013/ under REA grant agreement n° 290123 and bythe Société Française d'Endocrinologie et Diabétologie Pédiatrique with a Lilly grant.F.B was supported by Novonordisk Grant « Growth Hormone, Growth and Metabolism ».

    المصدر: ISSN: 1059-7794.

    مصطلحات موضوعية: IGF2/H19 imprinted domain, imprinting control region 1, deletions, hypomethylation, Silver-Russell syndrome, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27701793; hal-04026539; https://hal.science/hal-04026539Test; https://hal.science/hal-04026539/documentTest; https://hal.science/hal-04026539/file/Habib_et_al-2016-Human_Mutation.pdfTest; PUBMED: 27701793; WOS: 000390349700013

    الإتاحة: https://doi.org/10.1002/humu.23131Test
    https://hal.science/hal-04026539Test
    https://hal.science/hal-04026539/documentTest
    https://hal.science/hal-04026539/file/Habib_et_al-2016-Human_Mutation.pdfTest

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  3. 3
    دورية أكاديمية
    11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome

    المؤلفون: Abi Habib, Walid, Brioude, Frederic, Azzi, Salah, Salem, Jennifer, das Neves, Cristina, Personnier, Claire, Chantot-Bastaraud, Sandra, Keren, Boris, Le Bouc, Yves, Harbison, Madeleine, D, Netchine, Irene

    المساهمون: Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), The Babraham Institute Cambridge, UK, CHI Poissy-Saint-Germain, Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Icahn School of Medicine at Mount Sinai New York (MSSM), This work was supported by the Institut National de la Santé Et de la Recherche Médicale (INSERM),funding from the Université Pierre et Marie Curie (UPMC-Paris6), the Agence Nationale de laRecherche (ANR EPIFEGRO 2010), a Pfizer grant, and a 2010 grant from Agence de Biomédecine.WAH was supported by the People Programme (Marie Curie Actions) of the European Union's SeventhFramework Programme FP7/ITN Ingenium 2007-2013/ under REA grant agreement n° 290123 and bythe Société Française d'Endocrinologie et Diabétologie Pédiatrique with a Lilly grant.F.B was supported by Novonordisk Grant « Growth Hormone, Growth and Metabolism ».

    المصدر: ISSN: 1059-7794.

    مصطلحات موضوعية: IGF2/H19 imprinted domain, imprinting control region 1, deletions, hypomethylation, Silver-Russell syndrome, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27701793; hal-04026539; https://hal.science/hal-04026539Test; https://hal.science/hal-04026539/documentTest; https://hal.science/hal-04026539/file/Habib_et_al-2016-Human_Mutation.pdfTest; PUBMED: 27701793; WOS: 000390349700013

    الإتاحة: https://doi.org/10.1002/humu.23131Test
    https://hal.science/hal-04026539Test
    https://hal.science/hal-04026539/documentTest
    https://hal.science/hal-04026539/file/Habib_et_al-2016-Human_Mutation.pdfTest

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  4. 4
    دورية أكاديمية
    A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

    المؤلفون: Azzi, Salah, Salem, Jennifer, Thibaud, Nathalie, Chantot-Bastaraud, Sandra, Lieber, Eli, Netchine, Irène, Harbison, Madeleine D.

    المساهمون: Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Epigenetics Programme, The Babraham Institute Cambridge, UK, MAGIC Foundation, Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles (UCLA), University of California (UC)-University of California (UC), Department of Pediatrics New York, Icahn School of Medicine at Mount Sinai New York (MSSM)

    المصدر: ISSN: 0022-2593.

    مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

    العلاقة: hal-01293084; https://hal.sorbonne-universite.fr/hal-01293084Test; https://hal.sorbonne-universite.fr/hal-01293084/documentTest; https://hal.sorbonne-universite.fr/hal-01293084/file/J%20Med%20Genet-2015Test-Azzi-446-53.pdf

    الإتاحة: https://doi.org/10.1136/jmedgenet-2014-102979Test
    https://hal.sorbonne-universite.fr/hal-01293084Test
    https://hal.sorbonne-universite.fr/hal-01293084/documentTest
    https://hal.sorbonne-universite.fr/hal-01293084/file/J%20Med%20Genet-2015Test-Azzi-446-53.pdf

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  5. 5
    دورية أكاديمية
    A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

    المؤلفون: Azzi, Salah, Salem, Jennifer, Thibaud, Nathalie, Chantot-Bastaraud, Sandra, Lieber, Eli, Netchine, Irène, Harbison, Madeleine D.

    المساهمون: Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Epigenetics Programme, The Babraham Institute, MAGIC Foundation, Service de génétique et embryologie médicales CHU Trousseau, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles (UCLA), University of California-University of California, Department of Pediatrics New York, Icahn School of Medicine at Mount Sinai New York (MSSM)

    المصدر: ISSN: 0022-2593.

    مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

    العلاقة: hal-01293084; https://hal.sorbonne-universite.fr/hal-01293084Test; https://hal.sorbonne-universite.fr/hal-01293084/documentTest; https://hal.sorbonne-universite.fr/hal-01293084/file/J%20Med%20Genet-2015Test-Azzi-446-53.pdf

    الإتاحة: https://doi.org/10.1136/jmedgenet-2014-102979Test
    https://hal.sorbonne-universite.fr/hal-01293084Test
    https://hal.sorbonne-universite.fr/hal-01293084/documentTest
    https://hal.sorbonne-universite.fr/hal-01293084/file/J%20Med%20Genet-2015Test-Azzi-446-53.pdf

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  6. 6
    دورية أكاديمية
    New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

    المؤلفون: Demars, Julie, Rossignol, Sylvie, Netchine, Irène, Syin Lee, Kai, Shmela, Mansur, Faivre, Laurence, Weill, Jacques, Odent, Sylvie, Azzi, Salah, Callier, Patrick, Lucas, Josette, Dubourg, Christèle, Andrieux, Joris, Le Bouc, Yves, El-Osta, Assam, Gicquel, Christine

    المساهمون: Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Experimental Cardiology, Academic Medical Center - Academisch Medisch Centrum Amsterdam (AMC), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-Heart Failure Research Center (HFRC), Service d'endocrinologie pédiatrique CHU Lille, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Service de génétique clinique Rennes, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -hôpital Sud, Laboratoire de cytogénétique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Laboratoire de génétique moléculaire et génomique médicale CHU Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre Lille -Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), This work was supported by the National Health and Medical Research Council of Australia (Project grant 472637), the Baker IDI Heart and Diabetes Institute, the Institut National de la Santé et de la Recherche Médicale UMPC U938, Université Pierre et Marie Curie Paris 6 and Assistance Publique Hopitaux de Paris.

    المصدر: ISSN: 1059-7794.

    مصطلحات موضوعية: fetal growth, genomic imprinting, copy number variation, 11p15 region, Silver-Russell syndrome, Beckwith-Wiedemann syndrome, MESH: Base Sequence, MESH: Male, MESH: Pedigree, MESH: Polymorphism, Single Nucleotide, MESH: Silver-Russell Syndrome, MESH: Adult, MESH: Beckwith-Wiedemann Syndrome, MESH: Chromosomes, Human, Pair 11, MESH: Comparative Genomic Hybridization, MESH: DNA Copy Number Variations, MESH: DNA Methylation, MESH: Female, MESH: Genomic Imprinting, MESH: Humans, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.BDD]Life Sciences [q-bio]/Development Biology

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21780245; inserm-00610827; https://inserm.hal.science/inserm-00610827Test; https://inserm.hal.science/inserm-00610827/documentTest; https://inserm.hal.science/inserm-00610827/file/CNV_manuscript_14122010.pdfTest; PUBMED: 21780245

    الإتاحة: https://doi.org/10.1002/humu.21558Test
    https://inserm.hal.science/inserm-00610827Test
    https://inserm.hal.science/inserm-00610827/documentTest
    https://inserm.hal.science/inserm-00610827/file/CNV_manuscript_14122010.pdfTest

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  7. 7
    دورية أكاديمية
    New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

    المؤلفون: Demars, Julie, Rossignol, Sylvie, Netchine, Irène, Syin Lee, Kai, Shmela, Mansur, Faivre, Laurence, Weill, Jacques, Odent, Sylvie, Azzi, Salah, Callier, Patrick, Lucas, Josette, Dubourg, Christèle, Andrieux, Joris, Le Bouc, Yves, El-Osta, Assam, Gicquel, Christine

    المساهمون: Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Experimental Cardiology, Academic Medical Center - Academisch Medisch Centrum Amsterdam (AMC), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-Heart Failure Research Center (HFRC), Service d'endocrinologie pédiatrique CHU Lille, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Université de Lille-Université de Lille, Service de génétique clinique Rennes, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -hôpital Sud, Laboratoire de cytogénétique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Laboratoire de génétique moléculaire et génomique médicale CHU Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre Lille -Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), This work was supported by the National Health and Medical Research Council of Australia (Project grant 472637), the Baker IDI Heart and Diabetes Institute, the Institut National de la Santé et de la Recherche Médicale UMPC U938, Université Pierre et Marie Curie Paris 6 and Assistance Publique Hopitaux de Paris.

    المصدر: ISSN: 1059-7794.

    مصطلحات موضوعية: fetal growth, genomic imprinting, copy number variation, 11p15 region, Silver-Russell syndrome, Beckwith-Wiedemann syndrome, MESH: Base Sequence, MESH: Male, MESH: Pedigree, MESH: Polymorphism, Single Nucleotide, MESH: Silver-Russell Syndrome, MESH: Adult, MESH: Beckwith-Wiedemann Syndrome, MESH: Chromosomes, Human, Pair 11, MESH: Comparative Genomic Hybridization, MESH: DNA Copy Number Variations, MESH: DNA Methylation, MESH: Female, MESH: Genomic Imprinting, MESH: Humans, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.BDD]Life Sciences [q-bio]/Development Biology

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21780245; inserm-00610827; https://inserm.hal.science/inserm-00610827Test; https://inserm.hal.science/inserm-00610827/documentTest; https://inserm.hal.science/inserm-00610827/file/CNV_manuscript_14122010.pdfTest; PUBMED: 21780245

    الإتاحة: https://doi.org/10.1002/humu.21558Test
    https://inserm.hal.science/inserm-00610827Test
    https://inserm.hal.science/inserm-00610827/documentTest
    https://inserm.hal.science/inserm-00610827/file/CNV_manuscript_14122010.pdfTest

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  8. 8
    دورية أكاديمية
    New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

    المؤلفون: Demars, Julie, Rossignol, Sylvie, Netchine, Irène, Syin Lee, Kai, Shmela, Mansur, Faivre, Laurence, Weill, Jacques, Odent, Sylvie, Azzi, Salah, Callier, Patrick, Lucas, Josette, Dubourg, Christèle, Andrieux, Joris, Le Bouc, Yves, El-Osta, Assam, Gicquel, Christine

    المساهمون: Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Experimental Cardiology, Academic Medical Center - Academisch Medisch Centrum Amsterdam (AMC), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-Heart Failure Research Center (HFRC), Service d'endocrinologie pédiatrique CHU Lille, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Service de génétique clinique Rennes, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -hôpital Sud, Laboratoire de cytogénétique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Laboratoire de génétique moléculaire et génomique médicale CHU Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre Lille -Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), This work was supported by the National Health and Medical Research Council of Australia (Project grant 472637), the Baker IDI Heart and Diabetes Institute, the Institut National de la Santé et de la Recherche Médicale UMPC U938, Université Pierre et Marie Curie Paris 6 and Assistance Publique Hopitaux de Paris.

    المصدر: ISSN: 1059-7794.

    مصطلحات موضوعية: fetal growth, genomic imprinting, copy number variation, 11p15 region, Silver-Russell syndrome, Beckwith-Wiedemann syndrome, MESH: Base Sequence, MESH: Male, MESH: Pedigree, MESH: Polymorphism, Single Nucleotide, MESH: Silver-Russell Syndrome, MESH: Adult, MESH: Beckwith-Wiedemann Syndrome, MESH: Chromosomes, Human, Pair 11, MESH: Comparative Genomic Hybridization, MESH: DNA Copy Number Variations, MESH: DNA Methylation, MESH: Female, MESH: Genomic Imprinting, MESH: Humans, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.BDD]Life Sciences [q-bio]/Development Biology

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21780245; inserm-00610827; https://inserm.hal.science/inserm-00610827Test; https://inserm.hal.science/inserm-00610827/documentTest; https://inserm.hal.science/inserm-00610827/file/CNV_manuscript_14122010.pdfTest; PUBMED: 21780245

    الإتاحة: https://doi.org/10.1002/humu.21558Test
    https://inserm.hal.science/inserm-00610827Test
    https://inserm.hal.science/inserm-00610827/documentTest
    https://inserm.hal.science/inserm-00610827/file/CNV_manuscript_14122010.pdfTest

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  9. 9
    دورية أكاديمية
    New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

    المؤلفون: Demars, Julie, Rossignol, Sylvie, Netchine, Irène, Syin Lee, Kai, Shmela, Mansur, Faivre, Laurence, Weill, Jacques, Odent, Sylvie, Azzi, Salah, Callier, Patrick, Lucas, Josette, Dubourg, Christèle, Andrieux, Joris, Le Bouc, Yves, El-Osta, Assam, Gicquel, Christine

    المساهمون: Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Experimental Cardiology, Academic Medical Center - Academisch Medisch Centrum Amsterdam (AMC), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-Heart Failure Research Center (HFRC), Service d'endocrinologie pédiatrique CHU Lille, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Service de génétique clinique Rennes, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -hôpital Sud, Laboratoire de cytogénétique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Laboratoire de génétique moléculaire et génomique médicale CHU Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre Lille -Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), This work was supported by the National Health and Medical Research Council of Australia (Project grant 472637), the Baker IDI Heart and Diabetes Institute, the Institut National de la Santé et de la Recherche Médicale UMPC U938, Université Pierre et Marie Curie Paris 6 and Assistance Publique Hopitaux de Paris.

    المصدر: ISSN: 1059-7794.

    مصطلحات موضوعية: fetal growth, genomic imprinting, copy number variation, 11p15 region, Silver-Russell syndrome, Beckwith-Wiedemann syndrome, MESH: Base Sequence, MESH: Male, MESH: Pedigree, MESH: Polymorphism, Single Nucleotide, MESH: Silver-Russell Syndrome, MESH: Adult, MESH: Beckwith-Wiedemann Syndrome, MESH: Chromosomes, Human, Pair 11, MESH: Comparative Genomic Hybridization, MESH: DNA Copy Number Variations, MESH: DNA Methylation, MESH: Female, MESH: Genomic Imprinting, MESH: Humans, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.BDD]Life Sciences [q-bio]/Development Biology

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21780245; inserm-00610827; https://inserm.hal.science/inserm-00610827Test; https://inserm.hal.science/inserm-00610827/documentTest; https://inserm.hal.science/inserm-00610827/file/CNV_manuscript_14122010.pdfTest; PUBMED: 21780245

    الإتاحة: https://doi.org/10.1002/humu.21558Test
    https://inserm.hal.science/inserm-00610827Test
    https://inserm.hal.science/inserm-00610827/documentTest
    https://inserm.hal.science/inserm-00610827/file/CNV_manuscript_14122010.pdfTest

    View record in BASE

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  10. 10
    دورية أكاديمية
    New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

    المؤلفون: Demars, Julie, Rossignol, Sylvie, Netchine, Irène, Syin Lee, Kai, Shmela, Mansur, Faivre, Laurence, Weill, Jacques, Odent, Sylvie, Azzi, Salah, Callier, Patrick, Lucas, Josette, Dubourg, Christèle, Andrieux, Joris, Le Bouc, Yves, El-Osta, Assam, Gicquel, Christine

    المساهمون: Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Experimental Cardiology, Heart Failure Research Center (HFRC)-Academic Medical Center - Academisch Medisch Centrum Amsterdam (AMC), University of Amsterdam Amsterdam (UvA)-University of Amsterdam Amsterdam (UvA), Service d'endocrinologie pédiatrique CHU Lille, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire Lille (CHRU Lille), Service de Génétique Clinique, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-hôpital Sud, Laboratoire de cytogénétique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou Rennes, Laboratoire de Génétique Moléculaire, Hôpital Pontchaillou, Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre Lille -Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire Lille (CHRU Lille), This work was supported by the National Health and Medical Research Council of Australia (Project grant 472637), the Baker IDI Heart and Diabetes Institute, the Institut National de la Santé et de la Recherche Médicale UMPC U938, Université Pierre et Marie Curie Paris 6 and Assistance Publique Hopitaux de Paris.

    المصدر: ISSN: 1059-7794.

    مصطلحات موضوعية: fetal growth, genomic imprinting, copy number variation, 11p15 region, Silver-Russell syndrome, Beckwith-Wiedemann syndrome, MESH: Base Sequence, MESH: Male, MESH: Pedigree, MESH: Polymorphism, Single Nucleotide, MESH: Silver-Russell Syndrome, MESH: Adult, MESH: Beckwith-Wiedemann Syndrome, MESH: Chromosomes, Human, Pair 11, MESH: Comparative Genomic Hybridization, MESH: DNA Copy Number Variations, MESH: DNA Methylation, MESH: Female, MESH: Genomic Imprinting, MESH: Humans, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.BDD]Life Sciences [q-bio]/Development Biology

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21780245; inserm-00610827; https://www.hal.inserm.fr/inserm-00610827Test; https://www.hal.inserm.fr/inserm-00610827/documentTest; https://www.hal.inserm.fr/inserm-00610827/file/CNV_manuscript_14122010.pdfTest; PUBMED: 21780245

    الإتاحة: https://doi.org/10.1002/humu.21558Test
    https://www.hal.inserm.fr/inserm-00610827Test
    https://www.hal.inserm.fr/inserm-00610827/documentTest
    https://www.hal.inserm.fr/inserm-00610827/file/CNV_manuscript_14122010.pdfTest

    View record in BASE

    أضف إلى المفضلة
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