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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

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Title: Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Authors: Mackay DJG; Faculty of Medicine, University of Southampton, Southampton, UK. djgm@soton.ac.uk., Gazdagh G; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Monk D; Biomedical Research Centre, School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, UK., Brioude F; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France., Giabicani E; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France., Krzyzewska IM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Kalish JM; Division of Human Genetics and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Departments of Pediatrics and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Maas SM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Beygo J; Institut Für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kahre T; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain., Ambrozaitytė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Burnytė B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy., Davies JH; Faculty of Medicine, University of Southampton, Southampton, UK.; Regional Centre for Paediatric Endocrinology, Faculty of Medicine, Southampton Children's Hospital, University of Southampton, Southampton, UK., Ferrero GB; Department of Clinical and Biological Science, School of Medicine, Centre for Hemoglobinopathies, AOU San Luigi Gonzaga, University of Turin, Turin, Italy., Fjodorova O; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Manero-Azua A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Pereda A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Russo S; IRCCS Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy., Tannorella P; IRCCS Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy., Temple KI; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB),'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy., de Nanclares GP; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Maher ER; Aston Medical School, Aston University, Birmingham, UK.; Department of Medical Genetics, University of Cambridge, Cambridge, UK., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain., Netchine I; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France., Eggermann T; Institute for Human Genetics and Genome Medicine. Faculty of Medicine, RWTH University Aachen, Aachen, Germany., Bliek J; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Source: Clinical epigenetics [Clin Epigenetics] 2024 Aug 01; Vol. 16 (1), pp. 99. Date of Electronic Publication: 2024 Aug 01.
Publication Type: Journal Article; Review
Journal Info: Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
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  Data: <searchLink fieldCode="AU" term="%22Mackay+DJG%22">Mackay DJG</searchLink>; Faculty of Medicine, University of Southampton, Southampton, UK. djgm@soton.ac.uk.<br /><searchLink fieldCode="AU" term="%22Gazdagh+G%22">Gazdagh G</searchLink>; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Monk+D%22">Monk D</searchLink>; Biomedical Research Centre, School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, UK.<br /><searchLink fieldCode="AU" term="%22Brioude+F%22">Brioude F</searchLink>; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France.<br /><searchLink fieldCode="AU" term="%22Giabicani+E%22">Giabicani E</searchLink>; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France.<br /><searchLink fieldCode="AU" term="%22Krzyzewska+IM%22">Krzyzewska IM</searchLink>; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kalish+JM%22">Kalish JM</searchLink>; Division of Human Genetics and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Departments of Pediatrics and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.<br /><searchLink fieldCode="AU" term="%22Maas+SM%22">Maas SM</searchLink>; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kagami+M%22">Kagami M</searchLink>; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Beygo+J%22">Beygo J</searchLink>; Institut Für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Kahre+T%22">Kahre T</searchLink>; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Tenorio-Castano+J%22">Tenorio-Castano J</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ambrozaitytė+L%22">Ambrozaitytė L</searchLink>; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22Burnytė+B%22">Burnytė B</searchLink>; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22Cerrato+F%22">Cerrato F</searchLink>; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.<br /><searchLink fieldCode="AU" term="%22Davies+JH%22">Davies JH</searchLink>; Faculty of Medicine, University of Southampton, Southampton, UK.; Regional Centre for Paediatric Endocrinology, Faculty of Medicine, Southampton Children's Hospital, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Ferrero+GB%22">Ferrero GB</searchLink>; Department of Clinical and Biological Science, School of Medicine, Centre for Hemoglobinopathies, AOU San Luigi Gonzaga, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Fjodorova+O%22">Fjodorova O</searchLink>; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Manero-Azua+A%22">Manero-Azua A</searchLink>; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Pereda+A%22">Pereda A</searchLink>; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Russo+S%22">Russo S</searchLink>; IRCCS Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Tannorella+P%22">Tannorella P</searchLink>; IRCCS Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Temple+KI%22">Temple KI</searchLink>; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Õunap+K%22">Õunap K</searchLink>; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Riccio+A%22">Riccio A</searchLink>; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB),'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.<br /><searchLink fieldCode="AU" term="%22de+Nanclares+GP%22">de Nanclares GP</searchLink>; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Maher+ER%22">Maher ER</searchLink>; Aston Medical School, Aston University, Birmingham, UK.; Department of Medical Genetics, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Lapunzina+P%22">Lapunzina P</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Netchine+I%22">Netchine I</searchLink>; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France.<br /><searchLink fieldCode="AU" term="%22Eggermann+T%22">Eggermann T</searchLink>; Institute for Human Genetics and Genome Medicine. Faculty of Medicine, RWTH University Aachen, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Bliek+J%22">Bliek J</searchLink>; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Tümer+Z%22">Tümer Z</searchLink>; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
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