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Results: 12
Congenital imprinting disorders
Thomas Eggermann, Irène Netchine, I Karen Temple, Zeynep Tümer, David Monk, Deborah Mackay, Karin Grønskov, Andrea Riccio, Agnès Linglart, Eamonn R Maher
Sep 29, 2016
Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the...
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders
Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David Monk, Gudrun Moore, Thalia Antoniadi, Fiona MacDonald, Irène Netchine, Paolo Lombardi, Lukas Soellner, Matthias Begemann, Dirk Prawitt, Eamonn R Maher, Marcel Mannens, Andrea Riccio, Rosanna Weksberg, Pablo Lapunzina, Karen Grønskov, Deborah JG Mackay, Thomas Eggermann
Apr 13, 2016
Laura Chuhan Campbell, The Medieval Merlin Tradition in France and Italy: Prophecy, Paradox, and “Translatio”. (Gallica.) Cambridge, UK: D. S. Brewer, 2017. Pp. viii, 211. £60. ISBN
Irène Fabry-Tehranchi
Feb 07, 2020
This book, a revised version of the author’s 2011 dissertation at the University of Durham, studies the reinterpretation of Merlin’s character in French and Italian Arthurian literature through the question of translation. Laura...
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Deborah Mackay, Jet Bliek, Masayo Kagami, Jair Tenorio-Castano, Arrate Pereda, Frédéric Brioude, Irène Netchine, Dzhoy Papingi, Elisa De Franco, Margaret Lever, Julie Sillibourne, Paola Lombardi, Véronique Gaston, Maithé Tauber, Gwenaelle Diene, Eric Bieth, Luis Fernandez, Julian Nevado, Zeynep Tümer, Andrea Riccio, Eamonn R Maher, Jasmin Beygo, Pierpaola Tannorella, Silvia Russo, Guiomar Perez de Nanclares, I Karen Temple, Tsutomu Ogata, Pablo Lapunzina, Thomas Eggermann
Nov 08, 2022
Comparison of methods employed to extract information contained in seafloor backscatter
Irène Mopin, Gilles Le Chenadec, Michel Legris, Philippe Blondel, Jacques Marchal, Benoît Zerr
Dec 31, 2021
Seabed maps are based on quantities extracted from measurements of the seafloor‘s acoustic response by sonar systems such as single-beam echo-sounders (SBES), multibeam echo-sounders (MBES) or sidescan sonars (SSS). In this...
Comparison of methods employed to extract information contained in seafloor backscatter
Irène Mopin, Gilles Le Chenadec, Michel Legris, Philippe Blondel, Jacques Marchal, Benoît Zerr
Dec 31, 2021
Seabed maps are based on quantities extracted from measurements of the seafloor‘s acoustic response by sonar systems such as single-beam echo-sounders (SBES), multibeam echo-sounders (MBES) or sidescan sonars (SSS). In this...
Thomas Eggermann, Frédéric Brioude, Silvia Russo, Maria P Lombardi, Jet Bliek, Eamonn R Maher, Lidia Larizza, Dirk Prawitt, Irène Netchine, Marie Gonzales, Karen Grønskov, Zeynep Tümer, David Monk, Marcel Mannens, Krystyna Chrzanowska, Malgorzata K Walasek, Matthias Begemann, Lukas Soellner, Katja Eggermann, Jair Tenorio, Julián Nevado, Gudrun E Moore, Deborah JG Mackay, Karen Temple, Gabriele Gillessen-Kaesbach, Tsutomu Ogata, Rosanna Weksberg, Elizabeth Algar, Pablo Lapunzina
Oct 15, 2015
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Deborah Mackay, Jet Bliek, Masayo Kagami, Jair Tenorio-Castano, Arrate Pereda, Frédéric Brioude, Irène Netchine, Dzhoy Papingi, Elisa De Franco, Margaret Lever, Julie Sillibourne, Paola Lombardi, Véronique Gaston, Maithé Tauber, Gwenaelle Diene, Eric Bieth, Luis Fernandez, Julian Nevado, Zeynep Tümer, Andrea Riccio, Eamonn R Maher, Jasmin Beygo, Pierpaola Tannorella, Silvia Russo, Guiomar Perez de Nanclares, I Karen Temple, Tsutomu Ogata, Pablo Lapunzina, Thomas Eggermann
Dec 09, 2022
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Clare V Logan, Jennie E Murray, David A Parry, Andrea Robertson, Roberto Bellelli, Žygimantė Tarnauskaitė, Rachel Challis, Louise Cleal, Valerie Borel, Adeline Fluteau, Javier Santoyo-Lopez, SGP Consortium, Tim Aitman, Inês Barroso, Donald Basel, Louise S Bicknell, Himanshu Goel, Hao Hu, Chad Huff, Michele Hutchison, Caroline Joyce, Rachel Knox, Amy E Lacroix, Sylvie Langlois, Shawn McCandless, Julie McCarrier, Kay A Metcalfe, Rose Morrissey, Nuala Murphy, Irène Netchine, Susan M O'Connell, Ann Haskins Olney, Nandina Paria, Jill A Rosenfeld, Mark Sherlock, Erin Syverson, Perrin C White, Carol Wise, Yao Yu, Margaret Zacharin, Indraneel Banerjee, Martin Reijns, Michael B Bober, Robert K Semple, Simon J Boulton, Jonathan J Rios, Andrew P Jackson
Jul 18, 2019
During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol ε catalytic subunit POLE1, in 15...
DNA Replication IMAGe syndrome adrenal failure Cell Cycle growth immunodeficiency Microcephaly polymerase epsilon Adolescent Adrenal Insufficiency Adult Alleles Child Child Preschool Cyclin-Dependent Kinase Inhibitor p57 DNA Polymerase II DNA Replication Female Fetal Growth Retardation Humans Infant Male Middle Aged Mutation Osteochondrodysplasias Phenotype Poly-ADP-Ribose Binding Proteins Urogenital Abnormalities Young Adult
Recent Advances in Imprinting Disorders.
L Soellner, M Begemann, DJG Mackay, K Grønskov, Z Tümer, ER Maher, IK Temple, D Monk, A Riccio, A Linglart, I Netchine, T Eggermann
Aug 05, 2016
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome
Frédéric Brioude, Jennifer M Kalish, Alessandro Mussa, Alison C Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E Boonen, Trevor Cole, Robert Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D Kilby, Malgorzata Krajewska-Walasek, Christian P Kratz, Edmund J Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M Maas, Fiona MacDonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton-Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah JG Mackay, Andrea Riccio, Eamonn R Maher
Jul 02, 2018
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized...