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Natalio García-Honduvilla Department of Medicine and Medical Specialities, Faculty of Medicine and Health Sciences, University of Alcalá, Alcalá de Henares, Madrid, Spain
Networking Biomedical Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain
Ramón y Cajal Institute of Sanitary Research (IRYCIS), Madrid, Spain
University Center of Defense of Madrid (CUD-ACD), Madrid, Spain

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Alberto Cifuentes Department of Medicine and Medical Specialities, Faculty of Medicine and Health Sciences, University of Alcalá, Alcalá de Henares, Madrid, Spain
Networking Biomedical Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain
Ramón y Cajal Institute of Sanitary Research (IRYCIS), Madrid, Spain

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Miguel A Ortega Department of Medicine and Medical Specialities, Faculty of Medicine and Health Sciences, University of Alcalá, Alcalá de Henares, Madrid, Spain
Networking Biomedical Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain
Ramón y Cajal Institute of Sanitary Research (IRYCIS), Madrid, Spain

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Marta Pastor Biopraxis Research AIE, Álava, Spain

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Garazi Gainza Biopraxis Research AIE, Álava, Spain

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Eusebio Gainza Biopraxis Research AIE, Álava, Spain

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Julia Buján Department of Medicine and Medical Specialities, Faculty of Medicine and Health Sciences, University of Alcalá, Alcalá de Henares, Madrid, Spain
Networking Biomedical Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain
Ramón y Cajal Institute of Sanitary Research (IRYCIS), Madrid, Spain
University Center of Defense of Madrid (CUD-ACD), Madrid, Spain

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Melchor Álvarez-Mon Department of Medicine and Medical Specialities, Faculty of Medicine and Health Sciences, University of Alcalá, Alcalá de Henares, Madrid, Spain
Networking Biomedical Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain
Ramón y Cajal Institute of Sanitary Research (IRYCIS), Madrid, Spain
University Center of Defense of Madrid (CUD-ACD), Madrid, Spain
Immune System Diseases-Rheumatology and Oncology Service, University Hospital Príncipe de Asturias, Alcalá de Henares, Madrid, Spain

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described in the literature. In order to model this kind of wounds, the experimental induction of diabetes mellitus with streptozotocin in rodents has been widely used, which causes an impaired wound healing response in the diabetic animals ( 14 , 15

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Renea A Taylor Department of Physiology, Cancer Program and Obesity and Metabolic Disease Program, Biomedicine Discovery Institute, Monash University, Wellington Road, Victoria 3800, Australia

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Jennifer Lo Department of Physiology, Cancer Program and Obesity and Metabolic Disease Program, Biomedicine Discovery Institute, Monash University, Wellington Road, Victoria 3800, Australia

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Natasha Ascui Department of Physiology, Cancer Program and Obesity and Metabolic Disease Program, Biomedicine Discovery Institute, Monash University, Wellington Road, Victoria 3800, Australia

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Matthew J Watt Department of Physiology, Cancer Program and Obesity and Metabolic Disease Program, Biomedicine Discovery Institute, Monash University, Wellington Road, Victoria 3800, Australia

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Ku M Doan NB Gui D Elashoff D Cohen P . Effect of low-fat diet on development of prostate cancer and Akt phosphorylation in the Hi-Myc transgenic mouse model . Cancer Research 2008 68 3066 – 3073 . ( doi:10.1158/0008-5472.CAN-07

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Nathalia G B P Ferreira Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Joao L O Madeira Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Peter Gergics Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Renata Kertsz Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Juliana M Marques Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Nicholas S S Trigueiro Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Anna Flavia Figueredo Benedetti University of Michigan Medical School, Department of Human Genetics, Ann Arbor, Michigan, United States

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Bruna V Azevedo Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Bianca H V Fernandes Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Universidade de São Paulo, Zebrafish Facility, São Paulo, São Paulo, Brazil

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Debora D Bissegatto Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Isabela P Biscotto Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Qing Fang Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Qianyi Ma Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Asye B Ozel Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Jun Li Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Sally A Camper Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Alexander A L Jorge Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil

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Berenice B Mendonça Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Luciani R Carvalho Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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filtering for the isolated proband was applied for an autosomal inheritance model, searching for homozygous variants, or autosomal dominant, for genes already described as a cause for hypopituitarism. Trio WES was performed at laboratory Fleury (São Paulo

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Alice Costantini Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden

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Mari H Muurinen Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland

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Outi Mäkitie Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden

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different mouse models of OI ( 92 , 93 ) and two chemical chaperones were proven to improve the skeletal phenotype of a zebrafish model of autosomal dominant OI due to a missense pathogenic variant in col1a1a ( 94 ). Significance of gene discoveries

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Jian Gong School of Basic Medicine, Hubei University of Chinese Medicine, Wuhan, China

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Yinjuan Lv School of Basic Medicine, Hubei University of Chinese Medicine, Wuhan, China

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Yuhao Meng Hubei University of Chinese Medicine, Wuhan, China

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Weiheng Zhang Hubei University of Chinese Medicine, Wuhan, China

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Xiaocui Jiang Hubei University of Chinese Medicine, Wuhan, China

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Min Xiao Laboratory Animal Center, Hubei University of Chinese Medicine, Wuhan, China

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of the male offspring's reproductive organs ( 4 ). In animal models, prenatal stress led to apoptosis of testicular cells and reduced sperm quality and fertility in offspring rats ( 5 ). Maternal stress in sheep during late pregnancy affects sperm

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Darling M Rojas-Canales The Centre for Clinical and Experimental Transplantation (CCET) The Royal Adelaide Hospital, Adelaide, South Australia, Australia
Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
Department of Medicine, Faculty of Health and Medical Sciences, University of Adelaide, South Australia, Australia

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Michaela Waibel Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
St Vincent’s Institute of Medical Research, Fitzroy, Victoria, Australia
The University of Melbourne, Department of Medicine, St. Vincent’s Hospital, Fitzroy, Victoria, Australia

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Aurelien Forget Science and Engineering Faculty, Queensland University of Technology, Brisbane, Queensland, Australia

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Daniella Penko The Centre for Clinical and Experimental Transplantation (CCET) The Royal Adelaide Hospital, Adelaide, South Australia, Australia
Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
Department of Medicine, Faculty of Health and Medical Sciences, University of Adelaide, South Australia, Australia

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Jodie Nitschke The Centre for Clinical and Experimental Transplantation (CCET) The Royal Adelaide Hospital, Adelaide, South Australia, Australia
Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
Department of Medicine, Faculty of Health and Medical Sciences, University of Adelaide, South Australia, Australia

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Fran J Harding Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
Future Industries Institute, University of South Australia, Mawson Lakes, South Australia, Australia

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Bahman Delalat Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
Future Industries Institute, University of South Australia, Mawson Lakes, South Australia, Australia

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Anton Blencowe Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
Future Industries Institute, University of South Australia, Mawson Lakes, South Australia, Australia
School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia

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Thomas Loudovaris Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
St Vincent’s Institute of Medical Research, Fitzroy, Victoria, Australia

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Shane T Grey The Centre for Clinical and Experimental Transplantation (CCET) The Royal Adelaide Hospital, Adelaide, South Australia, Australia
Transplantation Immunology Group, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia

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Helen E Thomas Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
St Vincent’s Institute of Medical Research, Fitzroy, Victoria, Australia
The University of Melbourne, Department of Medicine, St. Vincent’s Hospital, Fitzroy, Victoria, Australia

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Thomas W H Kay Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
St Vincent’s Institute of Medical Research, Fitzroy, Victoria, Australia
The University of Melbourne, Department of Medicine, St. Vincent’s Hospital, Fitzroy, Victoria, Australia

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Chris J Drogemuller The Centre for Clinical and Experimental Transplantation (CCET) The Royal Adelaide Hospital, Adelaide, South Australia, Australia
Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
Department of Medicine, Faculty of Health and Medical Sciences, University of Adelaide, South Australia, Australia

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Nicolas H Voelcker Future Industries Institute, University of South Australia, Mawson Lakes, South Australia, Australia
Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia

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Patrick T Coates The Centre for Clinical and Experimental Transplantation (CCET) The Royal Adelaide Hospital, Adelaide, South Australia, Australia
Cooperative Research Centre for Cell Therapy Manufacturing (CRC-CTM), Adelaide, South Australia, Australia
Department of Medicine, Faculty of Health and Medical Sciences, University of Adelaide, South Australia, Australia

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the total costs associated with islet transplantation, it is advantageous to have centralized isolation facilities from where isolated islets are shipped to different clinical transplantation centers. This hub and spoke model approach requires the

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Jian Ding Department of Obstetrics and Gynecology, Maternal and Child Health Care Hospital of Shandong Province, Jinan, Shandong Province, China
Department of Obstetrics and Gynecology, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong Province, China

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Yan Kang Department of Obstetrics and Gynecology, Maternal and Child Health Care Hospital of Shandong Province, Jinan, Shandong Province, China
Department of Obstetrics and Gynecology, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong Province, China

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Yuqin Fan Department of Obstetrics and Gynecology, Maternal and Child Health Care Hospital of Shandong Province, Jinan, Shandong Province, China
Department of Obstetrics and Gynecology, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong Province, China

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Qi Chen Department of Obstetrics and Gynecology, Zoucheng People’s Hospital, Zoucheng, Shandong Province, China

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beneficial effects in various cardiovascular diseases ( 12 ). For instance, in rat model of PE, RESV was reported to reduce blood pressure ( 13 ), as well as inhibit trophoblast apoptosis through oxidative stress ( 14 ). In a pregnant mouse model with reduced

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E R Polina Laboratory of Human Molecular Genetics, Universidade Luterana do Brasil (ULBRA), Canoas, Brazil

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F M Oliveira Laboratory of Human Molecular Genetics, Universidade Luterana do Brasil (ULBRA), Canoas, Brazil

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R C Sbruzzi Laboratory of Human Molecular Genetics, Universidade Luterana do Brasil (ULBRA), Canoas, Brazil

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D Crispim Endocrine Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil

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L H Canani Endocrine Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil
Department of Internal Medicine, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil

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K G Santos Laboratory of Human Molecular Genetics, Universidade Luterana do Brasil (ULBRA), Canoas, Brazil
Cardiovascular Research Laboratory, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil

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from retina samples from two mouse models of diabetes after 3 months of hyperglycaemia suggested that the expression of miR-155-5p should be downregulated in DR ( 42 ). This proposition was based on the competing endogenous RNAs (ceRNAs) hypothesis

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Joanna Klubo-Gwiezdzinska National Institute of Health, NIDDK, Office 10 Center Drive, Bethesda, Maryland, USA
Division of Endocrinology, Department of Medicine, Medstar Washington Hospital Center, Washington Hospital Center, Northwest, Washington, District of Columbia, USA

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John Costello Jr Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA

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Kirk Jensen Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA

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Aneeta Patel Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA

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Rok Tkavc Department of Pathology, Uniformed Services University of the Health Sciences, Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, Maryland, USA

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Douglas Van Nostrand Division of Endocrinology, Department of Medicine, Medstar Washington Hospital Center, Washington Hospital Center, Northwest, Washington, District of Columbia, USA

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Kenneth D Burman Division of Endocrinology, Department of Medicine, Medstar Washington Hospital Center, Washington Hospital Center, Northwest, Washington, District of Columbia, USA

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Leonard Wartofsky Division of Endocrinology, Department of Medicine, Medstar Washington Hospital Center, Washington Hospital Center, Northwest, Washington, District of Columbia, USA

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Vasyl Vasko Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA

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evidence is insufficient to recommend for or against amifostine usage for salivary gland protection in patients undergoing therapy with RAI. Interestingly, several experimental and pre-clinical models suggest that amifostine may also act through more

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Tristan Avril Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Quentin Hennocq Datascience platform, Imagine Institute, Université Paris Cité, Paris, France

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Anne-Sophie Lambert Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Juliane Leger Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France

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Dominique Simon Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France

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Laetitia Martinerie Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France

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Claire Bouvattier Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France

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-square tests for categorical variables. Eleven hierarchical linear (models 1–3 and 5–11) and non-linear logistic models (model 4) were used in order to account for repeated measurements in a single patient and thus non-independent data. A random effect on the

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