المؤلفون: Estelle Bonnet, Mathias Winter, Delphine Mallet, Ingrid Plotton, Claire Bouvattier, Maryse Cartigny, Laetiti Martinerie, Michel Polak, Anne Bachelot, Frédéric Huet, Sabine Baron, Muriel Houang, Sylvie Soskin, Anne Lienhardt, Jérôme Bertherat, Cyril Amouroux, Aurore Bouty, Lise Duranteau, Rémi Besson, Alaa El Ghoneimi, Dinane Samara-Boustani, François Becmeur, Nicolas Kalfa, Françoise Paris, François Medjkane, Aude Brac de la Perrière, Patricia Bretones, Hervé Lejeune, Marc Nicolino, Pierre Mouriquand, Daniela-Brindusa Gorduza, Claire-Lise Gay

المصدر: Endocrine Connections, Vol 12, Iss 3, Pp 1-16 (2023)

مصطلحات موضوعية: 5α-reductase type 2 deficiency, 17β-hydroxysteroid dehydrogenase type 3 deficiency, 46, xy disorders of sex development, sex assignment, change in practices, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/12/3/EC-22-0227.xml; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/077e01f7ec9b4ad58a9537aefd1f10ce

المؤلفون: Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal, Sabrina Da Costa, Claire Dossier, Stephane Ederhy, Monique Elmaleh, Laurence Iserin, Hélène Lengliné, Armelle Poujol-Robert, Dominique Roulot, Jerome Viala, Frederique Albarel, Elise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert-Buffet, Philippe Chanson, Regis Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, Mickaël Grynberg, Karinne Gueniche, Carina Jorgensen, Veronique Kerlan, Charlotte Lebrun, Christine Lefevre, Françoise Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean-Pierre Siffroi, Anne-Claude Tabet, Maithé Tauber, Vanessa Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zenaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean-Claude Carel, Sophie Christin-Maitre, Juliane Léger

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss S1, Pp 1-39 (2022)

مصطلحات موضوعية: Turner’s syndrome, Childhood, Adulthood, Diagnosis, Recommendation, Management, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/47d7e0d1bd19414b82a3ff48728cebb1

المؤلفون: Muriel Houang, Thao Nguyen-Khoa, Thibaut Eguether, Bettina Ribault, Séverine Brabant, Michel Polak, Irène Netchine, Antonin Lamazière

المصدر: Endocrine Connections, Vol 11, Iss 6, Pp 1-6 (2022)

مصطلحات موضوعية: cah, 17-hydroxyprogesterone, newborn screening, dried blood spot, glucocorticoid treatment, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/11/6/EC-22-0101.xml; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/660c0c6e7d2c45d796ef455f62ef47a4

المؤلفون: Wafa Kallali, Claude Messiaen, Roumaisah Saïdi, Soucounda Lessim, Magali Viaud, Jerome Dulon, Mariana Nedelcu, Dinane Samara, Muriel Houang, Bruno Donadille, Carine Courtillot, GianPaolo de Filippo, Jean-Claude Carel, Sophie Christin-Maitre, Philippe Touraine, Irene Netchine, Michel Polak, Juliane Léger

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Diagnosis, Congenital endocrine disease, Cohort, Female, Male, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/79b41a6fc9394c23a15be96f2a7348c6

المؤلفون: Bruno Donadille, Muriel Houang, Irène Netchine, Jean-Pierre Siffroi, Sophie Christin-Maitre

المصدر: Endocrine Connections, Vol 7, Iss 3, Pp 395-402 (2018)

مصطلحات موضوعية: rare diseases, paediatric endocrinology, steroidogenesis, puberty, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://www.endocrineconnections.com/content/7/3/395.full.pdf+html; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/83136e7739774b14be9259381f100bcf

المؤلفون: Guillaume Bachelot, Anne Bachelot, Marion Bonnier, Joe-Elie Salem, Dominique Farabos, Severine Trabado, Charlotte Dupont, Peter Kamenicky, Muriel Houang, Jean Fiet, Yves Le Bouc, Jacques Young, Antonin Lamazière

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), Service de Biologie de la reproduction - Centre d'Etude et de Conservation des Oeufs et du Sperme humains [CHU Tenon] (CECOS), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU), Centre d'investigation clinique pluridisciplinaire [CHU Pitié Salpêtrière] (CIC-1901(ex CIC-1421)), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Hôpital Bicêtre, Signalisation Hormonale, Physiopathologie Endocrinienne et Métabolique, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), CHU Trousseau [APHP], BACHELOT, guillaume

المصدر: Human Reproduction
Human Reproduction, 2023, 38 (2), pp.266-276. ⟨10.1093/humrep/deac254⟩

مصطلحات موضوعية: [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, algorithm, hyperandrogenism Subject Section: Reproductive endocrinology, Rehabilitation, Obstetrics and Gynecology, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, late onset congenital adrenal hyperplasia, machine learning, Reproductive Medicine, Human Reproduction metabolomics, 21-Hydroxylase deficiency, Polycystic ovary syndrome, Human Reproduction metabolomics 21-Hydroxylase deficiency late onset congenital adrenal hyperplasia hirsutism machine learning algorithm Polycystic ovary syndrome hyperandrogenism Subject Section: Reproductive endocrinology, hirsutism

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a98fa51569271fa12c013e3d4f1af7d7
https://pubmed.ncbi.nlm.nih.gov/36427016

المؤلفون: Estelle Bonnet, Mathias Winter, Delphine Mallet, Ingrid Plotton, Claire Bouvattier, Maryse Cartigny, Laetiti Martinerie, Michel Polak, Anne Bachelot, Frédéric Huet, Sabine Baron, Muriel Houang, Sylvie Soskin, Anne Lienhardt, Jérôme Bertherat, Cyril Amouroux, Aurore Bouty, Lise Duranteau, Rémi Besson, Alaa El Ghoneimi, Dinane Samara-Boustani, François Becmeur, Nicolas Kalfa, Françoise Paris, François Medjkane, Aude Brac de la Perrière, Patricia Bretones, Hervé Lejeune, Marc Nicolino, Pierre Mouriquand, Daniela-Brindusa Gorduza, Claire-Lise Gay

المصدر: Endocrine connections.

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Internal Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c10d2e61a4c0150d35f90de38406a2e3
https://pubmed.ncbi.nlm.nih.gov/36606580

المؤلفون: Héléna Agnani, Guillaume Bachelot, Thibaut Eguether, Bettina Ribault, Jean Fiet, Yves Le Bouc, Irène Netchine, Muriel Houang, Antonin Lamazière

المصدر: The Journal of steroid biochemistry and molecular biology. 220

مصطلحات موضوعية: Male, Adrenal Hyperplasia, Congenital, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Puberty, Precocious, Cell Biology, Biochemistry, Machine Learning, Endocrinology, Adrenocorticotropic Hormone, Tandem Mass Spectrometry, Molecular Medicine, Humans, Female, Steroids, Child, Molecular Biology, Algorithms, Chromatography, Liquid, Hair

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa577efbddb73328246996686cbd7797
https://pubmed.ncbi.nlm.nih.gov/35292353

المؤلفون: Régis Coutant, Maud Bidet, Sophie Catteau-Jonard, Geneviève Plu-Bureau, Anne Bachelot, Lise Duranteau, Phillipe Touraine, Aude Brac de la Perriere, Juliane Léger, Justine Hugon-Rodin, Jean-Pierre Siffroi, Jean Victor Blanc, Véronique Kerlan, Michael Grynberg, Micheline Misrahi, Muriel Houang, Sophie Christin-Maitre, Jean Claude Carel, Michel Polak, Charlotte Sonigo, Delphine Zenaty, B. Donadille, Claire Bouvattier, Laïla El-Khattabi, Frédérique Albarel, Nicolas Chevalier, Maria Givony, Rachel Reynaud, Catherine Pienkowski

المساهمون: Couvet, Sandrine, CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre de référence des Maladies Endocriniennes Rares de la Croissance [CHU Saint-Antoine AP-HP] (CRMERC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance Publique - Hôpitaux de Marseille (APHM), CHU Pitié-Salpêtrière [AP-HP], Clinique mutualiste La Sagesse, Université Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Hospices Civils de Lyon (HCL), Hôpital Jeanne de Flandre [Lille], Université Côte d'Azur (UCA), Hôpital Robert Debré, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier Saint-Joseph [Paris], CHU Trousseau [APHP], AP-HP - Hôpital Antoine Béclère [Clamart], Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Hôpital Robert Debré Paris, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Necker - Enfants Malades [AP-HP], Hôpital de la Timone [CHU - APHM] (TIMONE), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF de Génétique chromosomique [CHU Trousseau]

المصدر: Annales d'Endocrinologie
Annales d'Endocrinologie, 2021, 82 (6), pp.555-571. ⟨10.1016/j.ando.2021.09.001⟩

مصطلحات موضوعية: Adult, Anti-Mullerian Hormone, Pediatrics, medicine.medical_specialty, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Primary ovarian insufficiency, Premature ovarian insufficiency, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Fragile X Mental Retardation Protein, X chromosome, Fragile X Mental Retardation Protein, Endocrinology, Turner syndrome, MESH: Follicle Stimulating Hormone, medicine, Hormonal replacement therapy, Humans, Chemotherapy, MESH: Humans, business.industry, Oocyte donation, MESH: Hormone Replacement Therapy, MESH: Adult, General Medicine, MESH: Primary Ovarian Insufficiency, medicine.disease, FMR1, Radiation therapy, [SDV] Life Sciences [q-bio], MESH: France, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Transgender hormone therapy, Etiology, MESH: Anti-Mullerian Hormone, Female, France, Follicle Stimulating Hormone, business, FMR1 premutation, MESH: Female, Hormone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11297725a415bf1bc6214dbbdeda4d47
https://www.hal.inserm.fr/inserm-03856183

المؤلفون: Catherine Cardot-Bauters, Francoise Archambeaud-Mouveroux, Muriel Houang, M.O. North, Gérald Raverot, Stéphanie Espiard, Anne Lienhardt, Hervé Lefebvre, Muriel Bottineau, Fidéline Bonnet, Denis Duboc, Olivier Chabre, Marie-Laure Nunes, Jérôme Bertherat, Antoine Feydy, Nicolas Dupin, Marie-Christine Vantyghem, Guillaume Assié, Sebastian Stroër, Françoise Brucker-Davis, L. Cabanes, Sophie Grabar, Antoine Tabarin, Lionel Groussin, Laurence Guignat

المصدر: Yearbook of Paediatric Endocrinology.

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biochemistry, Asymptomatic, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Prevalence, medicine, Humans, Prospective Studies, Carney Complex, Child, Multiple endocrine neoplasia, Prospective cohort study, Carney complex, Aged, Subclinical infection, business.industry, Incidence, Incidence (epidemiology), Biochemistry (medical), Myxoma, Retrospective cohort study, Middle Aged, medicine.disease, 030104 developmental biology, Child, Preschool, 030220 oncology & carcinogenesis, Cohort, Female, France, medicine.symptom, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::308c663f97599ef97395e742b7a4fcec
https://doi.org/10.1530/ey.17.8.3

المؤلفون: Myriam Rachid, Aliénor de Chalus, Liza Ali, Sophie Dreux, Matthieu Peycelon, Léa Carlier, Alaa El Ghoneimi, Christine Grapin, Nathalie Lelong, Adeline Bonnard, Alexandra Benachi, Georges Audry, Jean-Pierre Siffroi, Françoise Muller, M. Francesca Monn, Marie Legendre, Annabel Paye-Jaouen, Babak Khoshnood, Alexandra Lecourbe, Muriel Houang

المساهمون: Service de Chirurgie Viscerale et Urologie Pediatriques, Hôpital Robert Debré, Université Sorbonne Paris Cité (USPC), Maladies Endocriniennes Rares de la Croissance (CRMERC), Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Riley Children's Hospital at Indiana University Health, Indiana University School of Medicine, Indiana University System, Université Paris Diderot - Paris 7 (UPD7), Equipe 1 : EPOPé - Épidémiologie Obstétricale, Périnatale et Pédiatrique (CRESS - U1153), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris 13 (UP13), Service de biochimie-hormonologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université de Paris (UP), Service de Gynécologie-Obstétrique et Médecine de la Reproduction [AP-HP Hôpital Antoine Béclère], AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11), Institut National de la Sante et de la Recherche Medicale (Inserm) Sante Publique France (Saint-Maurice, France)

المصدر: Journal of Urology
Journal of Urology, Elsevier, 2020, 203 (5), pp.1017-1023. ⟨10.1097/JU.0000000000000708⟩

مصطلحات موضوعية: Adult, Male, endocrine system, placenta, Urology, beta subunit, 030232 urology & nephrology, Physiology, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Human chorionic gonadotropin, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Placenta, medicine, Humans, Chorionic Gonadotropin, beta Subunit, Human, chorionic gonadotropin, human, hypospadias, reproductive and urinary physiology, Beta human chorionic gonadotropin, Testosterone, Retrospective Studies, Pregnancy, Fetus, biology, urogenital system, business.industry, Incidence, Infant, Newborn, androgens, Prognosis, medicine.disease, 3. Good health, Pregnancy Trimester, First, medicine.anatomical_structure, Hypospadias, embryonic structures, biology.protein, Female, France, pregnancy, business, Biomarkers, ATP synthase alpha/beta subunits, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a242650ff77e486d277ca6a3cc79bcd
https://hal.inrae.fr/hal-03009486

المؤلفون: Laurence Perrin, Marjolaine Willems, Sylvie Rossignol, Hélène Bony-Trifunovic, Cécile Brachet, Catherine Naud-Saudreau, Frédéric Brioude, Claire Sechter, Domitille Thomas, Walid Abi Habib, Georges Gelwane, Elise Brischoux-Boucher, Laurence Berard, Virginie Steunou, Claire Jeandel, Yves Le Bouc, Muriel Houang, Irène Netchine, Eloise Giabicani, Sandra Chantot-Bastaraud, Bertrand Isidor, Salah Azzi, James Lespinasse, Isabelle Guemas, Monique Jesuran-Perelroizen, Emmanuelle Caldagues, Pierre-François Souchon, Juliette Piard, Nathalie Thibaud, Marie-Laure Cuvelier, Bich Lam, Régis Coutant, Caroline Storey

المساهمون: Gestionnaire, Hal Sorbonne Université, Sorbonne Université (SU), 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), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), UF de Génétique chromosomique [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), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], CHU Amiens-Picardie, Children's University Hospital Queen Fabiola [Bruxelles, Belgium], Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier de Calais, Hôpital Robert Debré Paris, Hôpital Robert Debré, Université Paris Diderot - Paris 7 (UPD7), Centre Hospitalier Métropole Savoie [Chambéry], CH Bretagne Sud, Association Française des Pédiatres Endocrinologues Libéraux (AFPEL), Centre Hospitalier Universitaire de Reims (CHU Reims), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Les Hôpitaux Universitaires de Strasbourg (HUS), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP]

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2019-106328⟩
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2019-106328⟩

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Microcephaly, 030209 endocrinology & metabolism, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Short stature, fetal growth restriction, 03 medical and health sciences, small for gestational age, 0302 clinical medicine, Growth factor receptor, Western blot, IGF1R, Internal medicine, Genetics, medicine, Genetics (clinical), Insulin-like growth factor 1 receptor, medicine.diagnostic_test, business.industry, homozygous variant, medicine.disease, Phenotype, IGF-I, body regions, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cohort, Small for gestational age, medicine.symptom, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ee6d49255a92d9a87bc5b4b19c1735
https://hal.sorbonne-universite.fr/hal-02435128

المؤلفون: Eloïse, Giabicani, Marjolaine, Willems, Virginie, Steunou, Sandra, Chantot-Bastaraud, Nathalie, Thibaud, Walid, Abi Habib, Salah, Azzi, Bich, Lam, Laurence, Bérard, Hélène, Bony-Trifunovic, Cécile, Brachet, Elise, Brischoux-Boucher, Emmanuelle, Caldagues, Regis, Coutant, Marie-Laure, Cuvelier, Georges, Gelwane, Isabelle, Guemas, Muriel, Houang, Bertrand, Isidor, Claire, Jeandel, James, Lespinasse, Catherine, Naud-Saudreau, Monique, Jesuran-Perelroizen, Laurence, Perrin, Juliette, Piard, Claire, Sechter, Pierre-François, Souchon, Caroline, Storey, Domitille, Thomas, Yves, Le Bouc, Sylvie, Rossignol, Irène, Netchine, Frédéric, Brioude

المصدر: Journal of medical genetics. 57(3)

مصطلحات موضوعية: Male, Heterozygote, Fetal Growth Retardation, Adolescent, Homozygote, Mutation, Missense, Dwarfism, Receptors, Somatomedin, Polymorphism, Single Nucleotide, Pedigree, Receptor, IGF Type 1, Fetal Development, Insulin-Like Growth Factor II, Infant, Small for Gestational Age, Microcephaly, Humans, Abnormalities, Multiple, Female, Insulin-Like Growth Factor I, Child, Growth Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::884176ec4ad9bcfb4577ed8a72968606
https://pubmed.ncbi.nlm.nih.gov/31586944

المؤلفون: Serge Amselem, Georges Audry, Nathalie Collot, Muriel Houang, M. Chabaud, Capucine Hyon, Matthieu Peycelon, Marie Legendre, Lamisse Mansour-Hendili, Jean-Pierre Siffroi, Marie-Dominique Bouvier

المصدر: Sexual Development. 11:293-297

مصطلحات موضوعية: 0301 basic medicine, Steroidogenic factor 1, Genetics, endocrine system, Embryology, Endocrinology, Diabetes and Metabolism, Intragenic duplication, Micropenis, Biology, medicine.disease, Phenotype, Short stature, 03 medical and health sciences, 030104 developmental biology, Hypospadias, Gene duplication, medicine, Disorders of sex development, medicine.symptom, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8ba8296c3eda137ce0e85286f40e110f
https://doi.org/10.1159/000485909

المؤلفون: Markus Zabransky, Muriel Houang, Wieland Kiess, Helen Johnstone, Carl-Joachim Partsch, Sarah Ehtisham, Dirk Schnabel

المصدر: Medical Devices (Auckland, N.Z.)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Evidence and Research [Medical Devices], Biomedical Engineering, Medicine (miscellaneous), 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Growth hormone, 03 medical and health sciences, 0302 clinical medicine, self-injection, Medicine, Routine clinical practice, Original Research, intervention adherence, business.industry, Human growth hormone, Self injection, Mean age, SurePal™, Patient preference, Omnitrope®, Growth hormone treatment, growth hormone, Observational study, PATRO children, business

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5447405603c2bfdd63cf27530d80028b
https://doi.org/10.2147/mder.s115933

المؤلفون: Mariacarolina Salerno, Nancy Mekhail, Monique Jesuran Perelroizen, Rachel Reynaud, Nicolas de Roux, Jean-Claude Carel, Delphine Zenaty, Ibrahima Ba, Juliane Léger, Muriel Houang, Gilbert Simonin, Gianpaolo De Filippo, Dominique Simon, Emmanuel Ecosse, Anne Paulsen

المساهمون: Simon, Dominique, Ba, Ibrahima, Mekhail, Nancy, Ecosse, Emmanuel, Paulsen, Anne, Zenaty, Delphine, Houang, Muriel, Jesuran Perelroizen, Monique, de Filippo, Gian Paolo, Salerno, Mariacarolina, Simonin, Gilbert, Reynaud, Rachel, Carel, Jean Claude, Léger, Juliane, de Roux, Nicolas

المصدر: European Journal of Endocrinology. 174:1-8

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, medicine.medical_specialty, Ubiquitin-Protein Ligases, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Mothers, Puberty, Precocious, 030209 endocrinology & metabolism, Context (language use), Biology, medicine.disease_cause, Precocious puberty, MKRN3 mutations, Pituitary-gonadal-axis, Frameshift mutation, Fathers, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Missense mutation, Child, Frameshift Mutation, Gene, Genetics, Mutation, Puberty, Heterozygote advantage, General Medicine, Phenotype, Pedigree, 030104 developmental biology, Italy, Ribonucleoproteins, Child, Preschool, Female, France, Genomic imprinting

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e4f1e984fd6c0e6dc83a13f79eb65e5
https://doi.org/10.1530/eje-15-0488

المؤلفون: Herve Lefebvre, Catherine Cardot-Bauters, Marie-Christine Vantyghem, Francoise Archambeaud-Mouveroux, Olivier Chabre, Marie-Laure Nunes, Muriel Houang, Gérald Raverot, Jérôme Bertherat, Françoise Brucker-Davis, Stéphanie Espiard, Anne Lienhardt, Antoine Tabarin

المساهمون: Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d’endocrinologie, diabétologie et maladies métaboliques [CHRU LIlle], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL), Département d'endocrinologie - Bordeaux 2, Université Bordeaux Segalen - Bordeaux 2, Centre méditerranéen de médecine moléculaire (C3M), Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU), Service de Pédiatrie médicale - Spécialités médicales [CHU Limoges], CHU Limoges, Différenciation et communication neuronale et neuroendocrine (DC2N), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département d'Endocrinologie, Diabète et Maladies Métaboliques [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service d'endocrinologie-diabétologie-nutrition [CHU Grenoble-Alpes], Centre Hospitalier Universitaire Grenoble Alpes (CHU Grenoble Alpes), Service d'Endocrinologie (BORDEAUX - Endocrino), CHU Bordeaux [Bordeaux], CHU Cochin [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: 19th European Congress of Endocrinology 2017
19th European Congress of Endocrinology 2017, May 2017, Lisbon, Portugal. ECE2017 ABSTRACT BOOK, 49, pp.GP120, 2017, ⟨10.1530/endoabs.49.GP120⟩

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Cohort, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], medicine, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, business, Carney complex, 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a7c37652b6f3a8e1f0a883a52fd0b1
https://hal-normandie-univ.archives-ouvertes.fr/hal-02474547

المؤلفون: Bruno Donadille, Yves Morel, Sylvie Cabrol, Sophie Christin-Maitre, Irene Netchine, Muriel Houang, Yves Lebouc

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, Endocrinology, Enzyme, Transition (genetics), chemistry, 3-Beta-Hydroxysteroid Dehydrogenase Deficiency, Period (gene), Internal medicine, medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c5cfda368b9294af0ad1f1cc7e048872
https://doi.org/10.1530/endoabs.41.gp188

المؤلفون: Herve Lefebvre, Marie-Christine Vantyghem, Catherine Cardot-Bauters, Jérôme Bertherat, A. Tabarin, Marie-Laure Nunes, Anne Lienhardt, F. Brucker-Davis, Gérald Raverot, Muriel Houang, Stéphanie Espiard, Olivier Chabre, F. Archambeaud-Mouveroux

المصدر: Annales d'Endocrinologie. 78:250-251

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cd7de031abff2b0b04a658654e09a520
https://doi.org/10.1016/j.ando.2017.07.098

المؤلفون: Dominique Bonneau, Cyril Goizet, Delphine Feldmann, Nicolas Leboulanger, Laurence Jonard, Didier Lacombe, Thierry Billette de Villemeur, Sylvie Cabrol, Sandrine Marlin, Muriel Houang, Françoise Denoyelle, Lucien Moatti

المصدر: American Journal of Medical Genetics Part A. :661-664

مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Perrault syndrome, Candidate gene, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Ovarian dysgenesis, Gonadal dysgenesis, Gonadal Dysgenesis, Connexins, Genetic determinism, Internal medicine, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), business.industry, Ovary, Syndrome, Sensorineural hearing impairment, medicine.disease, Connexin 26, Endocrinology, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcd9aaa34ace28c403707231c89843f0
https://doi.org/10.1002/ajmg.a.32180