المؤلفون: Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre, Gabriel Laurent, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Michel Vivaudou, Nathalie Roux-Buisson, Julien Fauré

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: catecholaminergic polymorphic ventricular tachycardia, Andersen-Tawil syndrome, Kir2.1 channel, Pierre Robin sequence, functionnal characterization, KCNJ2 variants, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.773177/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/1eea676b9315439d98a82f282c9786d4Test

المؤلفون: Pauline Le Tanno (11754323), Mathilde Folacci (11754326), Jean Revilloud (226552), Laurence Faivre (397333), Gabriel Laurent (737615), Lucile Pinson (11130013), Pascal Amedro (11754329), Gilles Millat (277846), Alexandre Janin (11754332), Michel Vivaudou (141672), Nathalie Roux-Buisson (10258445), Julien Fauré (5771993)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, catecholaminergic polymorphic ventricular tachycardia, Andersen-Tawil syndrome, Kir2.1 channel, Pierre Robin sequence, functionnal characterization, KCNJ2 variants

العلاقة: https://figshare.com/articles/figure/Image4_Characterization_of_Loss-Of-Function_KCNJ2_Mutations_in_Atypical_Andersen_Tawil_Syndrome_TIF/17079638Test

الإتاحة: https://doi.org/10.3389/fgene.2021.773177.s002Test

المؤلفون: Pauline Le Tanno (11754323), Mathilde Folacci (11754326), Jean Revilloud (226552), Laurence Faivre (397333), Gabriel Laurent (737615), Lucile Pinson (11130013), Pascal Amedro (11754329), Gilles Millat (277846), Alexandre Janin (11754332), Michel Vivaudou (141672), Nathalie Roux-Buisson (10258445), Julien Fauré (5771993)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, catecholaminergic polymorphic ventricular tachycardia, Andersen-Tawil syndrome, Kir2.1 channel, Pierre Robin sequence, functionnal characterization, KCNJ2 variants

العلاقة: https://figshare.com/articles/dataset/DataSheet1_Characterization_of_Loss-Of-Function_KCNJ2_Mutations_in_Atypical_Andersen_Tawil_Syndrome_pdf/17079635Test

الإتاحة: https://doi.org/10.3389/fgene.2021.773177.s001Test

المؤلفون: Francou, Bruno

مرشدي الرسالة: Université Paris-Saclay (ComUE), Guiochon-Mantel, Anne

مصطلحات موضوعية: Hypogonadisme, Génétique, Caractérisation fonctionnelle, GnRH, Kallmann, Kisspeptine, Hypogonadism, Genetics, Functionnal characterization, Kisspeptin

الإتاحة: http://www.theses.fr/2016SACLS101/documentTest

المؤلفون: Francou, Bruno

المساهمون: Signalisation Hormonale, Physiopathologie Endocrinienne et Métabolique, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11), Université Paris Saclay (COmUE), Anne Guiochon-Mantel, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)

المصدر: Biologie de la reproduction. Université Paris Saclay (COmUE), 2016. Français. ⟨NNT : 2016SACLS101⟩

مصطلحات موضوعية: Caractérisation fonctionnelle, Kisspeptin, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Hypogonadism, GnRH, Kallmann, Hypogonadisme, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Genetics, Functionnal characterization, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Génétique, Kisspeptine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::50ae2c006b1babde5b196f37f2c827aeTest
https://tel.archives-ouvertes.fr/tel-01527889/documentTest

المؤلفون: Francou, Bruno

المساهمون: Signalisation Hormonale, Physiopathologie Endocrinienne et Métabolique, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Saclay (COmUE), Anne Guiochon-Mantel

المصدر: https://theses.hal.science/tel-01527889Test ; Biologie de la reproduction. Université Paris Saclay (COmUE), 2016. Français. ⟨NNT : 2016SACLS101⟩.

مصطلحات موضوعية: Kallmann, GnRH, Hypogonadism, Genetics, Functionnal characterization, Kisspeptin, Kisspeptine, Caractérisation fonctionnelle, Hypogonadisme, Génétique, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]

العلاقة: NNT: 2016SACLS101; tel-01527889; https://theses.hal.science/tel-01527889Test; https://theses.hal.science/tel-01527889/documentTest; https://theses.hal.science/tel-01527889/file/74372_FRANCOU_2016_archivage.pdfTest

الإتاحة: https://theses.hal.science/tel-01527889Test
https://theses.hal.science/tel-01527889/documentTest
https://theses.hal.science/tel-01527889/file/74372_FRANCOU_2016_archivage.pdfTest

المؤلفون: Francou, Bruno

المساهمون: Université Paris-Saclay (ComUE), Guiochon-Mantel, Anne

مصطلحات موضوعية: Hypogonadisme, Génétique, Caractérisation fonctionnelle, GnRH, Kallmann, Kisspeptine, Hypogonadism, Genetics, Functionnal characterization, Kisspeptin

العلاقة: http://www.theses.fr/2016SACLS101/documentTest

الإتاحة: http://www.theses.fr/2016SACLS101/documentTest