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Shanghai Center of Thyroid Diseases, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China
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Shanghai Center of Thyroid Diseases, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China
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Research Institute of Pancreatic Diseases, Shanghai Jiao Tong University School of Medicine, Shanghai, China
State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Shanghai Jiao Tong University, Shanghai, China
Institute of Translational Medicine, Shanghai Jiao Tong University, Shanghai, China
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for FNAB with undetermined features in thyroid cancer. A multi-gene test panel allows the simultaneous detection of hundreds of genes, providing insight into the molecular mechanisms of disease formation while helping stratify management for patients
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, there is a need to avoid unnecessary thyroid surgery. The guidelines recommend the use of molecular tests for further management of thyroid nodules with indeterminate cytology (ITN); however, for the choice of the suitable method and the interpretation
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, gastric motility issues, undescended testes, adrenal insufficiency CBX2 c.1411C>G p.(Pro471Ala) V Normal a A molecular diagnosis has not been confirmed. #Variant found in alternative transcript CBX2# c.616C>T p.(Gln206*) V Normal a
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Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland
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tumour should be examined to exclude the presence of papillary structures. In addition, secondary criteria (molecular testing for BRAF V600E and other high-risk mutations and immunohistochemistry for BRAF V600E) were added that may be helpful but are
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clinical classes and genetic tests performed are listed on the y -axis. For each molecular analysis, the number of positive (mutated) and negative (not mutated) patients is symbolized by gray bars. SRY +/−, SRY presence/absence test; MLPA Intersex: MLPA
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
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Department of Pediatric Surgery, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
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Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
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multifaceted and can be caused by genetic and environmental factors; especially, hypospadias and undescended testes have been linked to the actions of environmental agents ( 3 ). A family history with genital abnormalities, delayed puberty, infertility
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de psychopathologie du développement, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service Endocrinologie Moléculaire et Maladies Rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
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Hospices Civils de Lyon, Groupement Hospitalier Est, Service d’endocrinologie, Bron, France
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Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
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Université Claude Bernard, Lyon, France
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Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Université Claude Bernard, Lyon, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
Université Claude Bernard, Lyon, France
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determination of the testosterone/DHT ratio (elevated at baseline and/or after human chorionic gonadotrophin (hCG) stimulation test in SRD5A2 deficiency) and of the testosterone/androstenedione ratio (low at baseline and after hCG stimulation test in HSD17B3
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Division of Hematology and Oncology, Department of Medicine, University of California, San Francisco, California, USA
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Department of Radiology and Biomedical Imaging, University of California, San Francisco, California, USA
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Department of Pathology, University of California, San Francisco, California, USA
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Division of Hematology and Oncology, Department of Medicine, University of California, San Francisco, California, USA
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Division of Hematology and Oncology, Department of Medicine, University of California, San Francisco, California, USA
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mode of presentation, outcomes of the mother and fetus and treatment decisions ( 18 ). None of these prior studies have evaluated relevant factors of disease biology or molecular features of the tumors. Following our observation of five women who
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molecular mechanisms that are responsible for the energy-dissipating qualities of brown fat have been studied in detail ( 4 , 5 ). Uncoupling protein-1 (UCP-1) has been identified as the key factor controlling the thermogenic capacity of brown adipocytes
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-0288 20668010 25 Nikiforov YE Steward DL Robinson-Smith TM Haugen BR Klopper JP Zhu Z Fagin JA Falciglia M Weber K Nikiforova MN. Molecular testing for mutations in improving the fine-needle aspiration diagnosis of