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Anello Marcello Poma Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

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Riccardo Giannini Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

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Paolo Piaggi National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA

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Clara Ugolini Department of Laboratory Medicine, Section of Pathology, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy

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Gabriele Materazzi Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

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Paolo Miccoli Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

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Paolo Vitti Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Fulvio Basolo Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

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included the RNA from the entire tumor, the second from the non-invasive area and the third from the invasive foci. Statistical analysis and bioinformatics tools The differential expression analysis among FAs, MI-FTCs and WI-FTCs was performed using

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0261
Volume/Issue:
Volume 7: Issue 1
Open access
Jean-Philippe Bertocchio Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Physiologie, Paris, France
Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, INSERM, UMRS1138, Paris, France

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Natalie Grosset Hypoparathyroïdisme France, Annecy, France

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Lionel Groussin Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Université de Paris, Paris, France

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Peter Kamenický Université Paris-Saclay, Inserm U1185, Physiologie et Physiopathologie Endocriniennes, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service d’Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Le Kremlin-Bicêtre, France

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Fabrice Larceneux Université Paris-Dauphine, PSL Research University, CNRS, UMR 7088, DRM [Ermes], Paris, France

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Anne Lienhardt-Roussie CHU Dupuytren, Hôpital Mère Enfant, Endocrinologie Pédiatrique, Limoges, France

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Agnès Linglart Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Université Paris-Saclay, Inserm U1185, Physiologie et Physiopathologie Endocriniennes, Assistance Publique-Hôpitaux de Paris, Service d’Endocrinologie et Diabète de l’Enfant, Centre de Référence des Maladies Rares du Calcium et du Phosphore et Filière de Santé Maladies Rares OSCAR, Hôpital Bicêtre Paris Saclay, Le Kremlin-Bicêtre, France

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Gérard Maruani Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Physiologie, Paris, France
Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Assistance Publique-Hôpitaux de Paris, Institut Necker-Enfants Malades, INSERM U1151 – CNRS UMR 8253, Paris, France

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Eric Mirallie Chirurgie Cancérologique, Digestive et Endocrine, Institut des Maladies de l’Appareil Digestif, Hôtel Dieu, CHU Nantes, France
Association Francophone de Chirurgie Endocrinienne (AFCE), France

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François Pattou Université de Lille, CHU Lille, Institut Pasteur Lille, Inserm U1190, Lille, France

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Riyad N H Seervai Molecular & Cellular Biology Graduate Program, Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA

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Coralie Sido Hypoparathyroïdisme France, Annecy, France

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Caroline Silve Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Biochimie et Génétique Moléculaires, Paris, France
INSERM, U1169, Université Paris Sud, Hôpital Bicêtre, Le Kremlin Bicêtre, France

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Aurélie Vilfaillot Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Unité de Recherche Clinique, Paris, France
INSERM, U1418, CIC-EC, Hôpital Européen Georges Pompidou, Paris, France

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Antoine Tabarin Service Endocrinologie Diabète et Nutrition, CHU de Bordeaux, Université de Bordeaux, Pessac, France

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Marie-Christine Vantyghem CHU Lille, Department of Endocrinology, Diabetology and Metabolism, Inserm U1190, EGID, Lille, France

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Pascal Houillier Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Physiologie, Paris, France
Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, INSERM, UMRS1138, Paris, France
CNRS, ERL8228, Paris, France

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the investigators of the Épi-Hypo study
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the investigators of the Épi-Hypo study

Development Environment for R (RStudio, Boston, MA, USA; http://www.rstudio.com/ ). Venn diagrams were designed using a publicly available website ( http://bioinformatics.psb.ugent.be ). We considered a P  -value <0.05 to be significant in all cases

Article Type:
Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-21-0350
Volume/Issue:
Volume 11: Issue 1
Open access
Alessandro Barbato Auxo-endocrinology Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Department of Health Sciences, University of Florence, Florence, Italy

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Giulia Gori Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Michele Sacchini Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Francesca Pochiero Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Sara Bargiacchi Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Giovanna Traficante Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Viviana Palazzo Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Lucia Tiberi Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Claudia Bianchini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Davide Mei Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Elena Parrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Tiziana Pisano Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Elena Procopio Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Renzo Guerrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy
NEUROFARBA Department, University of Florence, Florence, Italy

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Angela Peron Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy
Department of Clinical and Experimental Biomedical Sciences “Mario Serio”, University of Florence, Florence, Italy

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Stefano Stagi Auxo-endocrinology Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Department of Health Sciences, University of Florence, Florence, Italy

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– 2240 . ( https://doi.org/10.1093/hmg/ddp158 ) 16 Dehouck Y Kwasigroch JM Gilis D & Rooman M . PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality . BMC Bioinformatics 2011 12 151

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-24-0221
Volume/Issue:
Volume 13: Issue 10
Open access
Robert Rapaport Division of Pediatric Endocrinology & Diabetes, Mount Sinai Kravis Children’s Hospital and Icahn School of Medicine at Mount Sinai, New York, New York, USA

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Jan M Wit Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands

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Martin O Savage Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, London, UK

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causation. Support from the bio-informatic and genetic experts may be required ( 5 ). Using a combination of targeted genetic testing and exome sequencing (ES), Hauer et al. reported a diagnostic yield of 33% in 565 cases of unexplained short stature

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-20-0585
Volume/Issue:
Volume 10: Issue 3
Open access
Jessica S Jarmasz Department of Physiology & Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada

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Yan Jin Department of Physiology & Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada

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Hana Vakili Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

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Peter A Cattini Department of Physiology & Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada

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-calling software and then analyzed using Zymo Research Corp.’s proprietary analysis pipeline. Sequence reads were aligned to the reference genome assembly hg38 using Bismark ( http://www.bioinformatics.babraham.ac.uk/projects/bismark/ ). The methylation level of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0354
Volume/Issue:
Volume 9: Issue 12
Open access
Amarjit Saini Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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Linda Björkhem-Bergman Division of Clinical Geriatrics, Departments of Neurobiology, Care Sciences and Neurobiology, Karolinska Institutet, Stockholm, Sweden

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Johan Boström Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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Mats Lilja Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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Michael Melin Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden
Unit of Cardiology, Karolinska University Hospital, Stockholm, Sweden

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Karl Olsson Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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Lena Ekström Division of Clinical Pharmacology, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden

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Peter Bergman Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden

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Mikael Altun Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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Eric Rullman Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden
Unit of Cardiology, Karolinska University Hospital, Stockholm, Sweden

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Thomas Gustafsson Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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patterns by bioinformatic analyses, we aimed to provide further depth into our earlier array study. Collectively, our findings demonstrate a reduction of mRNA expression in ontologies relating to cell proliferation and differentiation. Regulation of SC self

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0194
Volume/Issue:
Volume 8: Issue 7
Open access
Ishita Gupta Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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Allal Ouhtit Department of Biological and Environmental Sciences, College of Arts and Sciences, Qatar University, Doha, Qatar

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Adil Al-Ajmi Department of Surgery, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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Syed Gauhar A Rizvi Department of Family Medicine and Public Health, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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Hamad Al-Riyami Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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Marwa Al-Riyami Department of Pathology, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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Yahya Tamimi Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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-gene relationships in localized prostate tumor samples . BMC Bioinformatics 2011 12 1 – 7 . ( https://doi.org/10.1186/1471-2105-12-1 ) 25 Sigurdson A Hauptmann M Chatterjee N Alexander BH Doody MM Rutter JL Struewing JP . Kin

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0173
Volume/Issue:
Volume 7: Issue 1
Open access
Helene Bandsholm Leere Tallaksen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Emma B Johannsen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Jesper Just Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Mette Hansen Viuff Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark

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Claus H Gravholt Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark

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Anne Skakkebæk Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

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.0506580102 ) 63 Langfelder P . Horvath S. WGCNA: an R package for weighted correlation network analysis . BMC Bioinformatics 2008 559. ( https://doi.org/10.1186/1471-2105-9-559 ) 64 Astro V Alowaysi M Fiacco E Saera-Vila A Cardona

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0011
Volume/Issue:
Volume 12: Issue 9
Open access
Anna Gorbacheva Endocrinology Research Center, Moscow, Russian Federation

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Anna Eremkina Endocrinology Research Center, Moscow, Russian Federation

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Daria Goliusova Endocrinology Research Center, Moscow, Russian Federation

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Julia Krupinova Endocrinology Research Center, Moscow, Russian Federation

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Natalia Mokrysheva Endocrinology Research Center, Moscow, Russian Federation

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.RA118.002983 ) 60 Wang C Yu T Tan L Cheng J . Bioinformatics analysis of gene expression profile in callus tissues of osteoporotic phenotype mice induced by osteoblast-specific Krm2 overexpression . International Journal of Rheumatic Diseases

Article Type:
Review Article
Collections:
Hormones and Cancer
DOI:
https://doi.org/10.1530/EC-21-0494
Volume/Issue:
Volume 11: Issue 3
Open access
Ewa Stogowska Department of Internal Medicine and Metabolic Diseases, Medical University of Bialystok, Bialystok, Poland

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Karol Adam Kamiński Department of Population Medicine and Civilization Diseases Prevention, Medical University of Bialystok, Bialystok, Poland

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Bartosz Ziółko Techmo, Kraków, Poland

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Irina Kowalska Department of Internal Medicine and Metabolic Diseases, Medical University of Bialystok, Bialystok, Poland

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, Electronics, Information, Communication and Bio-Informatics (AEEICB ) , pp. 83 – 87 . Chennai, India : IEEE , 2016 . ( https://doi.org/10.1109/AEEICB.2016.7538402 ) 39 Pinyopodjanard S Suppakitjanusant P Lomprew P Kasemkosin N Chailurkit L

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Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-21-0505
Volume/Issue:
Volume 11: Issue 3
Open access