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Djeda Belharazem Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Matthias Kirchner Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany
Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Franziska Geissler Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Peter Bugert Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Martin Spahn Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Burkhard Kneitz Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Hubertus Riedmiller Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Christian Sauer Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Stefan Küffer Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Lutz Trojan Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Christian Bolenz Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Maurice Stephan Michel Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Alexander Marx Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Philipp Ströbel Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany
Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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men over 65 years (3) . Age dependence in cancers could be the result of accumulation of DNA damage (4) or epigenetic changes (5) in somatic cells. Imprinting is one mechanism of epigenetic gene regulation. Imprinted genes carry epigenetic marks

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Sarmistha Banerjee Department of Biomedical Sciences, University of Pennsylvania, Philadelphia, Pennsylvania, USA

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Allison M Hayes Department of Biomedical Sciences, University of Pennsylvania, Philadelphia, Pennsylvania, USA

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Bernard H Shapiro Department of Biomedical Sciences, University of Pennsylvania, Philadelphia, Pennsylvania, USA

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in CYP expression and resulting drug metabolism observed during adulthood ( 1 , 5 ). Most, if not all, sexual dimorphisms are a result of developmental hormone imprinting. Hormonal imprinting refers to a biological process in which the target

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K L Gatford School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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G K Heinemann School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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S D Thompson School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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J V Zhang School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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S Buckberry School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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J A Owens School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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G A Dekker School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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C T Roberts School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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on behalf of the SCOPE Consortium School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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decreased IGF1 action in these individuals, as absence of IGF1 signalling through IGF1R reduces postnatal growth (34) , and IGF1 deficiency predicts longevity (35) . IGF2 is located in an imprinted gene cluster on chromosome 11p15.5 ( Fig. 1 ), containing

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Danielle Christine Maria van der Kaay Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

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Anne Rochtus Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium

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Gerhard Binder University Children’s Hospital, Pediatric Endocrinology, University of Tübingen, Tübingen, Germany

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Ingo Kurth Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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Dirk Prawitt Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany

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Irène Netchine Sorbonne Université, Centre de Recherche Saint-Antoine, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

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Gudmundur Johannsson Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden

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Anita C S Hokken-Koelega Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

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Miriam Elbracht Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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Thomas Eggermann Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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particularly important. Multiple genetic anomalies are associated with short and tall stature and range from chromosomal variants to single bp changes and imprinting defects. Patients with large chromosomal variants (numerical chromosomal aberrations, (sub

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Devis Pascut Fondazione Italiana Fegato – ONLUS, Trieste, Italy

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Sofia Tamini Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy

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Silvia Bresolin Laboratory of Onco-Hematology, Department of Women’s and Children’s Health, University of Padova, Padova, Italy

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Pablo Giraudi Fondazione Italiana Fegato – ONLUS, Trieste, Italy

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Giuseppe Basso Laboratory of Onco-Hematology, Department of Women’s and Children’s Health, University of Padova, Padova, Italy

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Alessandro Minocci Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy
Division of Metabolic Diseases, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy

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Claudio Tiribelli Fondazione Italiana Fegato – ONLUS, Trieste, Italy

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Graziano Grugni Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy
Division of Auxology, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy

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Alessandro Sartorio Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy
Division of Metabolic Diseases, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy
Division of Auxology, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy

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the first example in humans of genetic imprinting ( 1 ). Three main genetic subtypes are involved namely interstitial deletion of the proximal long arm of paternal chromosome 15 (del15q11.2-q13) (DEL15, 65–75% of cases), maternal uniparental disomy of

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Jing Wang Tianjin Women’s and Children’s Health Center Tianjin, China
Chronic Disease Epidemiology Laboratory Pennington Biomedical Research Center, Baton Rouge, Louisiana, USA

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Leishen Wang Tianjin Women’s and Children’s Health Center Tianjin, China

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Huikun Liu Tianjin Women’s and Children’s Health Center Tianjin, China

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Shuang Zhang Tianjin Women’s and Children’s Health Center Tianjin, China

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Junhong Leng Tianjin Women’s and Children’s Health Center Tianjin, China

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Weiqin Li Tianjin Women’s and Children’s Health Center Tianjin, China

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Tao Zhang Tianjin Women’s and Children’s Health Center Tianjin, China

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Nan Li Tianjin Women’s and Children’s Health Center Tianjin, China

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Wei Li Tianjin Women’s and Children’s Health Center Tianjin, China

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Andrea A Baccarelli Department of Environmental Health Sciences Columbia University Mailman School of Public Health, New York, New York, USA

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Lifang Hou Department of Preventive Medicine Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA

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Gang Hu Chronic Disease Epidemiology Laboratory Pennington Biomedical Research Center, Baton Rouge, Louisiana, USA

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an important role on the growth of infants. The possible explanation underlying the findings could be ‘metabolic imprinting’, which is known as ‘the process by which a stimulus or insult occurring during a critical period of development has a long

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Roberto Cosimo Melcangi Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy

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Livio Casarini Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy

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Marco Marino Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy

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Daniele Santi Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Department of Medical Specialties, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy

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Samantha Sperduti Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy

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Silvia Giatti Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy

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Silvia Diviccaro Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy

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Maria Grimoldi Neurology Division, Papa Giovanni XXIII Hospital, Bergamo, Italy

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Donatella Caruso Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy

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Guido Cavaletti Experimental Neurology Unit and Milan Center for Neuroscience, School of Medicine and Surgery, University of Milano Bicocca, Monza, Italy

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Manuela Simoni Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy
Department of Medical Specialties, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy

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number of subjects. Presently, it is impossible to establish whether the SRD5A2 methylation pattern in PFS patients is set during early embryo development or results from finasteride treatment itself. DNA methylation is imprinted during gamete

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Ivar Følling Department of Endocrinology, Akershus University Hospital, Lørenskog, Norway
Institute of Clinical Medicine, University of Oslo, Oslo, Norway
Department of Clinical Molecular Biology, University of Oslo and Akershus University Hospital, Lørenskog, Norway

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Anna B Wennerstrøm Department of Clinical Molecular Biology, University of Oslo and Akershus University Hospital, Lørenskog, Norway

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Tor J Eide Division of Laboratory Medicine, Department of Pathology, Oslo University Hospital, Oslo, Norway

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Hilde Loge Nilsen Institute of Clinical Medicine, University of Oslo, Oslo, Norway
Department of Clinical Molecular Biology, University of Oslo and Akershus University Hospital, Lørenskog, Norway

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phaeochromocytomas. The IGF2 gene is localised in a region that undergoes classical maternal–paternal imprinting. Overexpression of IGF2 transcript is common in phaeochromocytomas, and mechanisms found so far are tumour- specific genomic changes in copy number

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Sakina Kherra CHU Parnet Hopital, Algiers, Algeria

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Wendy Forsyth Paterson Royal Hospital for Sick Children, Yorkhill, Glasgow, UK

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Filiz Mine Cizmecioglu Paediatric Endocrinology and Diabetes Department, Kocaeli University, Kocaeli, Turkey

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Jeremy Huw Jones Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Mariam Kourime Abderrahim Harouchi Hôpital, Casablanca, Morocco

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Heba Hassan Elsedfy Pediatrics Department, Ain Shams University, Cairo, Egypt

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Sameh Tawfik Department of Pediatrics, Maadi Hospital, Cairo, Egypt

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Andreas Kyriakou Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Mohamad Guftar Shaikh Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Malcolm David Cairns Donaldson Section of Child Health, Glasgow University School of Medicine, Glasgow, UK

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Introduction The Prader–Willi syndrome (PWS) results from the absence of paternally imprinted genes in the 15q 11–13 region, caused by a deletion in the paternal chromosome (del15q) in 70% of cases and disomy of the maternal chromosome (mUPD15

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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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for incorporation within conventional laboratory tissue culture plastic, the container can be fitted into a 6-well plate. The microwells were imprinted in the base of the device. The device lid was constructed to hold a semi-permeable membrane in close

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