Molecular genetics

Transmission of germline TP53 mutations from male carriers to female partners
Sophie Patrier-Sallebert, Gaëlle Bougeard, Stéphanie Baert-Desurmont, Aude Lamy, Jean-Michel Flaman, Ludovic Mansuy, Myriam Bronner, Christine Lasset, Laurence Brugières, François Golfier, Thierry Frebourg

Journal of Medical Genetics Mar 2015, 52 (3) 145-146; DOI: 10.1136/jmedgenet-2014-102853
Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer
D G Evans, A Howell, D Ward, F Lalloo, J L Jones, D M Eccles

Journal of Medical Genetics Aug 2011, 48 (8) 520-522; DOI: 10.1136/jmedgenet-2011-100006
A germline mutation in PBRM1 predisposes to renal cell carcinoma
Patrick R Benusiglio, Sophie Couvé, Brigitte Gilbert-Dussardier, Sophie Deveaux, Hélène Le Jeune, Mélanie Da Costa, Gaëlle Fromont, Françoise Memeteau, Mokrane Yacoub, Isabelle Coupier, Dominique Leroux, Arnaud Méjean, Bernard Escudier, Sophie Giraud, Anne-Paule Gimenez-Roqueplo, Christophe Blondel, Eric Frouin, Bin T Teh, Sophie Ferlicot, Brigitte Bressac-de Paillerets, Stéphane Richard, Sophie Gad

Journal of Medical Genetics Jun 2015, 52 (6) 426-430; DOI: 10.1136/jmedgenet-2014-102912
Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
Vito Terlizzi, Giuseppe Castaldo, Donatello Salvatore, Marco Lucarelli, Valeria Raia, Adriano Angioni, Vincenzo Carnovale, Natalia Cirilli, Rosaria Casciaro, Carla Colombo, Antonella Miriam Di Lullo, Ausilia Elce, Paola Iacotucci, Marika Comegna, Manuela Scorza, Vincenzina Lucidi, Anna Perfetti, Roberta Cimino, Serena Quattrucci, Manuela Seia, Valentina Maria Sofia, Federica Zarrilli, Felice Amato

Journal of Medical Genetics Apr 2017, 54 (4) 224-235; DOI: 10.1136/jmedgenet-2016-103985
Diagnostic value of exome and whole genome sequencing in craniosynostosis
Kerry A Miller, Stephen R F Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, David Johnson, Steven A Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C Taylor, Jacqueline A C Goos, Sigrid M A Swagemakers, Irene M J Mathijssen, Peter J van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A Hurst, Jenny E V Morton, Elizabeth Sweeney, Astrid Weber, Louise C Wilson, Andrew O M Wilkie

Journal of Medical Genetics Apr 2017, 54 (4) 260-268; DOI: 10.1136/jmedgenet-2016-104215
Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum
Sha Tang, Jing Wang, Ni-Chung Lee, Margherita Milone, Michelle C Halberg, Eric S Schmitt, William J Craigen, Wei Zhang, Lee-Jun C Wong

Journal of Medical Genetics Oct 2011, 48 (10) 669-681; DOI: 10.1136/jmedgenet-2011-100222
Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects
Elena Parrini, Davide Mei, Maria Antonietta Pisanti, Serena Catarzi, Daniela Pucatti, Claudia Bianchini, Mario Mascalchi, Enrico Bertini, Amelia Morrone, Maria Luigia Cavaliere, Renzo Guerrini

Journal of Medical Genetics Jun 2015, 52 (6) 405-412; DOI: 10.1136/jmedgenet-2014-102959
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
Katrin Koehler, Miroslav P. Milev, Keshika Prematilake, Felix Reschke, Susann Kutzner, Ramona Jühlen, Dana Landgraf, Eda Utine, Filiz Hazan, Gulden Diniz, Markus Schuelke, Angela Huebner, Michael Sacher

Journal of Medical Genetics Mar 2017, 54 (3) 176-185; DOI: 10.1136/jmedgenet-2016-104108
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome
Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon

Journal of Medical Genetics Mar 2017, 54 (3) 212-216; DOI: 10.1136/jmedgenet-2016-104295
CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease
Alicia Semaka, Chris Kay, Crystal Doty, Jennifer A Collins, Emilia K Bijlsma, Fiona Richards, Y Paul Goldberg, Michael R Hayden

Journal of Medical Genetics Oct 2013, 50 (10) 696-703; DOI: 10.1136/jmedgenet-2013-101796

Main menu

Molecular genetics

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Molecular genetics

Pages