Zobrazeno 1 - 10 of 2 165 pro vyhledávání: '"Daly AF"'
1
Akademický článek
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
Autor: Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Dunnington LA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center (UTHealth Houston), Houston, TX, USA.; Memorial Hermann-Texas Medical Center, University of Texas Health Science Center at Houston, Houston, TX, USA., Rodriguez-Buritica DF; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center (UTHealth Houston), Houston, TX, USA.; Memorial Hermann-Texas Medical Center, University of Texas Health Science Center at Houston, Houston, TX, USA., Spiegel E; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, 10032, USA., Brancati F; Department of Life, Health and Environmental Sciences, University of L'Aquila, Via Spennati N.1, L'Aquila, 67010, Italy.; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy., Mantovani G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Rawal VM; Austin Diagnostic Clinic, 2400 Cedar Bend Dr, Austin, TX, 78758, USA., Faucz FR; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD, USA., Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Caberg JH; Department of Human Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Nardone AM; Medical Genetics Laboratory, Policlinico Tor Vergata Hospital, Viale Oxford 81, Rome, 00133, Italy., Bengala M; Medical Genetics Laboratory, Policlinico Tor Vergata Hospital, Viale Oxford 81, Rome, 00133, Italy., Fortugno P; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy.; Università Telematica San Raffaele, Rome, Italy., Del Sindaco G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Ragonese M; Department of Human Pathology of Adulthood and Childhood DETEV, Endocrinology Unit, University of Messina, 98125, Messina, Italy., Gould H; Austin Maternal Fetal Medicine, 12200 Renfert Way Ste G3, Austin, TX, 78758, USA., Cannavò S; Department of Human Pathology of Adulthood and Childhood DETEV, Endocrinology Unit, University of Messina, 98125, Messina, Italy., Pétrossians P; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Lania A; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, Milan, 20072, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Beckers A; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Stratakis CA; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD, USA.; Human Genetics and Precision Medicine, Institute of Molecular Biology and Biotechnology (IMBB), Foundation for Research and Technology Hellas, Heraklion, Greece.; ASTREA Health, Athens, Greece., Levy B; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Trivellin G; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, Milan, 20072, Italy. giampaolo.trivellin@hunimed.eu.; IRCCS Humanitas Research Hospital, Milan, Italy. giampaolo.trivellin@hunimed.eu., Franke M; Andalusian Center for Developmental Biology (CABD), Junta de Andalucia - Universidad Pablo de Olavide (UPO) - Consejo Superior de Investigaciones Cientificas (CSIC), Seville, Spain. mfra2@upo.es.
Publikováno v: Genome medicine [Genome Med] 2024 Sep 13; Vol. 16 (1), pp. 112. Date of Electronic Publication: 2024 Sep 13.
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2
Akademický článek
The Genetic Pathophysiology and Clinical Management of the TADopathy, X-Linked Acrogigantism.
Autor: Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire (CHU) de Liège, University of Liège, Domaine Universitaire Sart Tilman, 4000 Liège, Belgium., Beckers A; Department of Endocrinology, Centre Hospitalier Universitaire (CHU) de Liège, University of Liège, Domaine Universitaire Sart Tilman, 4000 Liège, Belgium.
Publikováno v: Endocrine reviews [Endocr Rev] 2024 Sep 12; Vol. 45 (5), pp. 737-754.
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3
Report
Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism.
Autor: Caruso M; Department of Pediatrics, Azienda Policlinico Università di Catania, Catania, Italy., Mazzatenta D; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.; Istituto di Ricovero e Cura a Carattere Scientifico Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Asioli S; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.; Istituto di Ricovero e Cura a Carattere Scientifico Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Costanza G; Department of Pediatrics, Azienda Policlinico Università di Catania, Catania, Italy., Trivellin G; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Humanitas Research Hospital, Milan, Italy., Franke M; Andalusian Center for Developmental Biology (CABD), Junta de Andalucía- Universidad Pablo de Olavide (UPO) - Consejo Superior de Investigaciones Cientificas (CSIC), Sevilla, Spain., Abboud D; Center for Interdisciplinary Research on Medicines (CIRM) - Laboratory of Medicinal Chemistry, and Laboratory of Molecular Pharmacology, GIGA-Molecular Biology of Diseases, University of Liège, Liège, Belgium., Hanson J; Center for Interdisciplinary Research on Medicines (CIRM) - Laboratory of Medicinal Chemistry, and Laboratory of Molecular Pharmacology, GIGA-Molecular Biology of Diseases, University of Liège, Liège, Belgium., Raverot V; Laboratoire d'hormonologie Centre de Biologie et Pathologie Est (CBPE)-Groupement Hospitalier Est, Hospices civils de Lyon, Bron, France., Pétrossians P; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Beckers A; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Cappa M; Research Unit, Innovative Therapies for Endocrinopathies, Scientific Directorate, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy., Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.
Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Feb 28; Vol. 15, pp. 1345363. Date of Electronic Publication: 2024 Feb 28 (Print Publication: 2024).
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5
Akademický článek
Djeho, the Egyptian God's dancer with dwarfism from the thirtieth dynasty.
Autor: Valdes-Socin H; Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Liège, Belgium. hg.valdessocin@chuliege.be., Daly AF; Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Liège, Belgium., Petrossians P; Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Liège, Belgium.
Publikováno v: Journal of endocrinological investigation [J Endocrinol Invest] 2023 Nov; Vol. 46 (11), pp. 2421-2422. Date of Electronic Publication: 2023 Mar 23.
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6
Editorial & Opinion
Comment on "Persistent remission of acromegaly in a patient with GH-secreting pituitary adenoma: Effect of treatment with pasireotide long-acting release and consequence of treatment withdrawal".
Autor: Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.
Publikováno v: Journal of clinical pharmacy and therapeutics [J Clin Pharm Ther] 2022 Sep; Vol. 47 (9), pp. 1490. Date of Electronic Publication: 2022 Mar 21.
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7
Akademický článek
The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene.
Autor: Vroonen L; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Beckers A; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Camby S; Department of Otorhinolaryngology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Cuny T; Department of Endocrinology, Aix Marseille University, Assistance publique Hôpitaux de Marseille (APHM), INSERM, Marseille Medical Genetics (MMG), Hopital La Conception, Institut MarMaRa, Marseille, France., Beckers P; Department of Human Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Jaffrain-Rea ML; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.; Department of Neuroendocrinology, Neuromed IRCCS, Pozzilli, Italy., Cogne M; Department of Endocrinology, Diabetes and Nutrition, Centre Hospitalo-Universitaire de la Réunion, Saint-Pierre, France., Naves L; Department of Endocrinology, University of Brasilia, Brasilia, Brazil., Ferriere A; Department of Endocrinology, Hopital Haut-Leveque, Centre Hospitalier Universitaire (CHU) de Bordeaux, Pessac, France., Romanet P; Laboratory of Molecular Biology, Aix Marseille University, Assistance publique Hôpitaux de Marseille (APHM), INSERM, Marseille Medical Genetics (MMG), Hospital La Conception, Institut MarMaRa, Marseille, France., Elenkova A; Department of Endocrinology, Medical University of Sofia, Sofia, Bulgaria., Karhu A; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland., Brue T; Department of Endocrinology, Aix Marseille University, Assistance publique Hôpitaux de Marseille (APHM), INSERM, Marseille Medical Genetics (MMG), Hopital La Conception, Institut MarMaRa, Marseille, France.; Laboratory of Molecular Biology, Aix Marseille University, Assistance publique Hôpitaux de Marseille (APHM), INSERM, Marseille Medical Genetics (MMG), Hospital La Conception, Institut MarMaRa, Marseille, France., Barlier A; Laboratory of Molecular Biology, Aix Marseille University, Assistance publique Hôpitaux de Marseille (APHM), INSERM, Marseille Medical Genetics (MMG), Hospital La Conception, Institut MarMaRa, Marseille, France., Pétrossians P; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.
Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Aug 29; Vol. 14, pp. 1242588. Date of Electronic Publication: 2023 Aug 29 (Print Publication: 2023).
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8
Akademický článek
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
Autor: Trivellin G; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, Liège, Belgium., Hernández-Ramírez LC; Red de Apoyo a la Investigación, Coordinación de la Investigación Científica, Universidad Nacional Autónoma de México e Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Araldi E; Energy Metabolism Laboratory, Department of Health Sciences and Technology, Institute of Translational Medicine, Swiss Federal Institute of Technology (ETH) Zurich, Schwerzenbach, Switzerland., Tatsi C; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Dale RK; Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Fridell G; Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Mittal A; Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Faucz FR; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.; Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Iben JR; Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Li T; Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Vitali E; IRCCS Humanitas Research Hospital, Milan, Italy., Stojilkovic SS; Section on Cellular Signaling, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Kamenicky P; Université Paris-Saclay, Institut national de la santé et de la recherche médicale (INSERM), Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicêtre, France., Villa C; Département de Neuropathologie de la Pitié Salpêtrière, Hôpital de la Pitié-Salpêtrière - Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Paris, France.; Institut national de la santé et de la recherche médicale (INSERM) U1016, Centre national de la recherche scientifique Unité Mixte de Recherche (CNRS UMR) 8104, Institut Cochin, Paris, France., Baussart B; Institut national de la santé et de la recherche médicale (INSERM) U1016, Centre national de la recherche scientifique Unité Mixte de Recherche (CNRS UMR) 8104, Institut Cochin, Paris, France.; Service de Neurochirurgie, Hôpital Pitié-Salpêtrière, AP-HP Sorbonne, Paris, France., Chittiboina P; Neurosurgery Unit for Pituitary and Inheritable Diseases and Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, MD, United States., Toro C; National Institutes of Health (NIH) Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, United States., Gahl WA; National Institutes of Health (NIH) Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, United States., Eugster EA; Division of Endocrinology and Diabetes, Department of Pediatrics, Riley Hospital for Children at Indiana University (IU) Health, Indiana University School of Medicine, Indianapolis, IN, United States., Naves LA; Service of Endocrinology, University Hospital, Faculty of Medicine, University of Brasilia, Brasilia, Brazil., Jaffrain-Rea ML; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.; Neuromed Institute, Istituto di Ricovero e Cura a Carattere Scientifico, Pozzilli, Italy., de Herder WW; Department of Medicine, Section Endocrinology, Pituitary Center Rotterdam, Erasmus University Medical Center, Rotterdam, Netherlands., Neggers SJ; Department of Medicine, Section Endocrinology, Pituitary Center Rotterdam, Erasmus University Medical Center, Rotterdam, Netherlands., Petrossians P; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, Liège, Belgium., Beckers A; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, Liège, Belgium., Lania AG; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Mains RE; Department of Neuroscience, University of Connecticut (UConn) Health, Farmington, CT, United States., Eipper BA; Department of Molecular Biology and Biophysics, UConn Health, Farmington, CT, United States., Stratakis CA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.; Human Genetics and Precision Medicine, Institute of Molecular Biology and Biotechnology (IMBB), Foundation for Research and Technology Hellas, Heraklion, Greece.; Research Institute, ELPEN, Athens, Greece.
Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Jun 14; Vol. 14, pp. 1166076. Date of Electronic Publication: 2023 Jun 14 (Print Publication: 2023).
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9
Akademický článek
miR-34a is upregulated in AIP-mutated somatotropinomas and promotes octreotide resistance.
Autor: Bogner EM; Institute for Diabetes and Cancer, Helmholtz Zentrum München, Neuherberg, Germany., Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium., Gulde S; Institute for Diabetes and Cancer, Helmholtz Zentrum München, Neuherberg, Germany., Karhu A; Department of Medical and Clinical Genetics & Genome-Scale Biology Research Programs Unit, University of Helsinki, Helsinki, Finland., Irmler M; Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Beckers J; Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Technische Universität München, Chair of Experimental Genetics, Freising, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Mohr H; Institute for Diabetes and Cancer, Helmholtz Zentrum München, Neuherberg, Germany., Beckers A; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium., Pellegata NS; Institute for Diabetes and Cancer, Helmholtz Zentrum München, Neuherberg, Germany.
Publikováno v: International journal of cancer [Int J Cancer] 2020 Dec 15; Vol. 147 (12), pp. 3523-3538. Date of Electronic Publication: 2020 Sep 10.
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10
Akademický článek
The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency.
Autor: Potorac I; Department of Endocrinology, Centre Hospitalier Universitaire (CHU) de Liège, Domaine Universitaire Sart-Tilman, 4000 Liège, Belgium., Laterre M; Department of Human Genetics, Centre Hospitalier Universitaire (CHU) de Liège, Domaine Universitaire Sart-Tilman, 4000 Liège, Belgium., Malaise O; Department of Rheumatology, Centre Hospitalier Universitaire (CHU) de Liège, Domaine Universitaire Sart-Tilman, 4000 Liège, Belgium., Nechifor V; Department of Urology, Centre Hospitalier Universitaire (CHU) de Liège, Domaine Universitaire Sart-Tilman, 4000 Liège, Belgium., Fasquelle C; Department of Human Genetics, Centre Hospitalier Universitaire (CHU) de Liège, Domaine Universitaire Sart-Tilman, 4000 Liège, Belgium., Colleye O; Department of Pathology, Centre Hospitalier Universitaire (CHU) de Liège, Domaine Universitaire Sart-Tilman, 4000 Liège, Belgium., Detrembleur N; Department of Pathology, Centre Hospitalier Universitaire (CHU) de Liège, Domaine Universitaire Sart-Tilman, 4000 Liège, Belgium., Verdin H; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium., Symoens S; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium., De Baere E; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium., Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire (CHU) de Liège, Domaine Universitaire Sart-Tilman, 4000 Liège, Belgium., Bours V; Department of Human Genetics, Centre Hospitalier Universitaire (CHU) de Liège, Domaine Universitaire Sart-Tilman, 4000 Liège, Belgium., Pétrossians P; Department of Endocrinology, Centre Hospitalier Universitaire (CHU) de Liège, Domaine Universitaire Sart-Tilman, 4000 Liège, Belgium., Pintiaux A; Department of Gynecology, Centre Hospitalier Universitaire (CHU) de Liège, Domaine Universitaire Sart-Tilman, 4000 Liège, Belgium.
Publikováno v: Journal of clinical medicine [J Clin Med] 2023 Jan 28; Vol. 12 (3). Date of Electronic Publication: 2023 Jan 28.
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