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Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou Van Zanten, Peter Mortimer, Pia Ostergaard, Sahar Mansour

Journal of Medical Genetics Oct 2020, 57 (10) 653-659; DOI: 10.1136/jmedgenet-2019-106084
Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes
Jacob W P Potuijt, Jeannette Hoogeboom, Esther de Graaff, Christianne A van Nieuwenhoven, Robert Jan H Galjaard

Journal of Medical Genetics Oct 2020, 57 (10) 660-663; DOI: 10.1136/jmedgenet-2019-106685
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 Oct 2020, 57 (10) 677-682; DOI: 10.1136/jmedgenet-2019-106374
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
Oluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, Hazel M Inskip, Christopher D Byrne, Miho Ishida, Gudrun E Moore, Emma L Wakeling, Angela Fenwick, Deborah J G Mackay, Justin Huw Davies, I Karen Temple

Journal of Medical Genetics Oct 2020, 57 (10) 683-691; DOI: 10.1136/jmedgenet-2019-106561
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 Oct 2020, 57 (10) 692-698; DOI: 10.1136/jmedgenet-2019-106676
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 Oct 2020, 57 (10) 699-707; DOI: 10.1136/jmedgenet-2019-106678
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility
Guillaume Martinez, Julie Beurois, Denis Dacheux, Caroline Cazin, Marie Bidart, Zine-Eddine Kherraf, Derrick R Robinson, Véronique Satre, Gerald Le Gac, Chandran Ka, Isabelle Gourlaouen, Yann Fichou, Graciane Petre, Emmanuel Dulioust, Raoudha Zouari, Nicolas Thierry-Mieg, Aminata Touré, Christophe Arnoult, Mélanie Bonhivers, Pierre Ray, Charles Coutton

Journal of Medical Genetics Oct 2020, 57 (10) 708-716; DOI: 10.1136/jmedgenet-2019-106775
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
Adela Chirita-Emandi, Nicoleta Andreescu, Cristina Popa, Alexandra Mihailescu, Anca-Lelia Riza, Razvan Plesea, Mihai Ioana, Smaranda Arghirescu, Maria Puiu

Journal of Medical Genetics Aug 2020, jmedgenet-2020-107198; DOI: 10.1136/jmedgenet-2020-107198
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy
Nayeralsadat Fatemi, Najmeh Salehi, Laura Pignata, Pietro Palumbo, Maria Vittoria Cubellis, Fariba Ramazanali, Pierre Ray, Maryam Varkiani, Fakhreddin Reyhani-Sabet, Alireza Biglari, Angela Sparago, Basilia Acurzio, Orazio Palumbo, Massimo Carella, Andrea Riccio, Mehdi Totonchi

Journal of Medical Genetics Sep 2020, jmedgenet-2020-106909; DOI: 10.1136/jmedgenet-2020-106909
Assessment of mismatch repair deficiency in ovarian cancer
Emma J Crosbie, Neil A J Ryan, Rhona J McVey, Fiona Lalloo, Naomi Bowers, Kate Green, Emma R Woodward, Tara Clancy, James Bolton, Andrew J Wallace, Raymond F McMahon, D Gareth Evans

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107270; DOI: 10.1136/jmedgenet-2020-107270

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