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Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
Coral Arnau-Collell, Yasmin Soares de Lima, Marcos Díaz-Gay, Jenifer Muñoz, Sabela Carballal, Laia Bonjoch, Leticia Moreira, Juan José Lozano, Teresa Ocaña, Miriam Cuatrecasas, Aranzazu Díaz de Bustamante, Antoni Castells, Gabriel Capellà, Luis Bujanda, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Francesc Balaguer, Clara Ruiz-Ponte, Laura Valle, Victor Moreno, Sergi Castellvi-Bel

Journal of Medical Genetics Mar 2020, jmedgenet-2019-106374; DOI: 10.1136/jmedgenet-2019-106374
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)
Elizabeth K Bancroft, Sibel Saya, Emma Brown, Sarah Thomas, Natalie Taylor, Jeanette Rothwell, Jennifer Pope, Anthony Chamberlain, Elizabeth Page, Sarah Benafif, Helen Hanson, Alexander Dias, Christos Mikropoulos, Louise Izatt, Lucy Side, Lisa Walker, Alan Donaldson, Jackie A Cook, Julian Barwell, Vicki Wiles, Lauren Limb, Diana M Eccles, Martin O Leach, Susan Shanley, Fiona J Gilbert, David Gallagher, Balashanmugam Rajashanker, Richard W Whitehouse, Dow-Mu Koh, S Aslam Sohaib, D Gareth Evans, Rosalind A Eeles, Leslie G Walker

Journal of Medical Genetics Apr 2020, 57 (4) 226-236; DOI: 10.1136/jmedgenet-2019-106407
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
Sylvain Blanchon, Marie Legendre, Mathieu Bottier, Aline Tamalet, Guy Montantin, Nathalie Collot, Catherine Faucon, Florence Dastot, Bruno Copin, Annick Clement, Marcel Filoche, André Coste, Serge Amselem, Estelle Escudier, Jean-Francois Papon, Bruno Louis

Journal of Medical Genetics Apr 2020, 57 (4) 237-244; DOI: 10.1136/jmedgenet-2019-106424
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
Maribel González-Acosta, Fátima Marín, Benjamin Puliafito, Nuria Bonifaci, Anna Fernández, Matilde Navarro, Hector Salvador, Francesc Balaguer, Silvia Iglesias, Angela Velasco, Elia Grau Garces, Victor Moreno, Luis Ignacio Gonzalez-Granado, Pilar Guerra-García, Rosa Ayala, Benoît Florkin, Christian Kratz, Tim Ripperger, Thorsten Rosenbaum, Danuta Januszkiewicz-Lewandowska, Amedeo A Azizi, Iman Ragab, Michaela Nathrath, Hans-Jürgen Pander, Stephan Lobitz, Manon Suerink, Karin Dahan, Thomas Imschweiler, Ugur Demirsoy, Joan Brunet, Conxi Lázaro, Daniel Rueda, Katharina Wimmer, Gabriel Capellá, Marta Pineda

Journal of Medical Genetics Apr 2020, 57 (4) 269-273; DOI: 10.1136/jmedgenet-2019-106272
Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes
Jacob W P Potuijt, Jeannette Hoogeboom, Esther de Graaf, Christianne A van Nieuwenhoven, Robert Jan H Galjaard

Journal of Medical Genetics Mar 2020, jmedgenet-2019-106685; DOI: 10.1136/jmedgenet-2019-106685
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Cubuk, Mary Alikian, George J Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian R Berry, James Drummond, Andrew J Wallace, Gail Norbury, Diana M Eccles, Sian Ellard, Fiona Lalloo, D Gareth Evans, Emma Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull

Journal of Medical Genetics Mar 2020, jmedgenet-2019-106759; DOI: 10.1136/jmedgenet-2019-106759
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
Dominique P Germain, João Paulo Oliveira, Daniel G Bichet, Han-Wook Yoo, Robert J Hopkin, Roberta Lemay, Juan Politei, Christoph Wanner, William R Wilcox, David G Warnock

Journal of Medical Genetics Mar 2020, jmedgenet-2019-106467; DOI: 10.1136/jmedgenet-2019-106467
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation
Priyam Jani, Quynh C Nguyen, Konstantinia Almpani, Cyrus Keyvanfar, Rashmi Mishra, Denise Liberton, Pamela Orzechowski, Pamela A Frischmeyer-Guerrerio, Olivier Duverger, Janice S Lee

Journal of Medical Genetics Mar 2020, jmedgenet-2019-106678; DOI: 10.1136/jmedgenet-2019-106678
Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
Lucija Brcic, Jack FG Underwood, Kimberley M Kendall, Xavier Caseras, George Kirov, William Davies

Journal of Medical Genetics Mar 2020, jmedgenet-2019-106676; DOI: 10.1136/jmedgenet-2019-106676
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation
Antonis Ververis, Rana Dajani, Pantelitsa Koutsou, Ahmad Aloqaily, Carol Nelson-Williams, Erin Loring, Ala Arafat, Ammar Fayez Mubaidin, Khalid Horany, Mai B Bader, Yaqoub Al-Baho, Bushra Ali, Abdurrahman Muhtaseb, Tyrone DeSpenza Jr, Abdelkarim A Al-Qudah, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Richard Lifton, Kyproula Christodoulou

Journal of Medical Genetics Mar 2020, 57 (3) 178-186; DOI: 10.1136/jmedgenet-2019-106108

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