Molecular genetics

Genetics of neuromuscular fetal akinesia in the genomics era
Sarah Jane Beecroft, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark Davis, Nigel G Laing, Gianina Ravenscroft

Journal of Medical Genetics Jun 2018, jmedgenet-2018-105266; DOI: 10.1136/jmedgenet-2018-105266
Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Ruth T Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie A Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne P M McConnell, Patrick J Morrison, Victoria Murday, Soo-Mi Park, Helen L Simpson, Katie Snape, Susan Stewart, Susan E Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S Lindsay, Colin G Perry, Emma R Woodward, Antonis C Antoniou, Eamonn R Maher

Journal of Medical Genetics Jun 2018, 55 (6) 384-394; DOI: 10.1136/jmedgenet-2017-105127
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
Francjan J van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, Nan Shen, Danique van Vliet, Mohammed Al-Owain, Khushnooda Ramzan, Salwa M Alkhalifi, Roelineke J Lunsing, Rebecca M Heiner-Fokkema, Anahita Rassi, Corinne Gemperle-Britschgi, Georg F Hoffmann, Nenad Blau, Beat Thöny

Journal of Medical Genetics Apr 2018, 55 (4) 249-253; DOI: 10.1136/jmedgenet-2017-104875
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Jamie M Ellingford, Bradley Horn, Christopher Campbell, Gavin Arno, Stephanie Barton, Catriona Tate, Sanjeev Bhaskar, Panagiotis I Sergouniotis, Rachel L Taylor, Keren J Carss, Lucy F L Raymond, Michel Michaelides, Simon C Ramsden, Andrew R Webster, Graeme C M Black

Journal of Medical Genetics Feb 2018, 55 (2) 114-121; DOI: 10.1136/jmedgenet-2017-104791
Variant in C-terminal region of intestinal alkaline phosphatase associated with benign familial hyperphosphatasaemia
Takayuki Ishige, Sakae Itoga, Emi Utsuno, Motoi Nishimura, Masaharu Yoshikawa, Naoya Kato, Kazuyuki Matsushita, Osamu Yokosuka, Fumio Nomura

Journal of Medical Genetics Jan 2018, jmedgenet-2017-104964; DOI: 10.1136/jmedgenet-2017-104964
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma
Fanélie Jouenne, Isaure Chauvot de Beauchene, Emeline Bollaert, Marie-Françoise Avril, Olivier Caron, Olivier Ingster, Axel Lecesne, Patrick Benusiglio, Philippe Terrier, Vincent Caumette, Daniel Pissaloux, Arnaud de la Fouchardière, Odile Cabaret, Birama N’Diaye, Amélie Velghe, Gaelle Bougeard, Graham J Mann, Serge Koscielny, Jennifer H Barrett, Mark Harland, Julia Newton-Bishop, Nelleke Gruis, Remco Van Doorn, Marion Gauthier-Villars, Gaelle Pierron, Dominique Stoppa-Lyonnet, Isabelle Coupier, Rosine Guimbaud, Capucine Delnatte, Jean-Yves Scoazec, Alexander M Eggermont, Jean Feunteun, Luba Tchertanov, Jean-Baptiste Demoulin, Thierry Frebourg, Brigitte Bressac-de Paillerets

Journal of Medical Genetics Sep 2017, 54 (9) 607-612; DOI: 10.1136/jmedgenet-2016-104402
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature
M Balasubramanian, J Willoughby, A E Fry, A Weber, H V Firth, C Deshpande, J N Berg, K Chandler, K A Metcalfe, W Lam, D T Pilz, S Tomkins

Journal of Medical Genetics Aug 2017, 54 (8) 537-543; DOI: 10.1136/jmedgenet-2016-104360
GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss
Guangqian Xing, Jun Yao, Chunyu Liu, Qinjun Wei, Xuli Qian, Lingxin Wu, Yajie Lu, Xin Cao

Journal of Medical Genetics Jun 2017, 54 (6) 426-430; DOI: 10.1136/jmedgenet-2016-104320
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
Gaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, Ita O'Kelly, Katherine Lachlan, Rodney D Gilbert, Sarah Ennis

Journal of Medical Genetics Apr 2017, 54 (4) 269-277; DOI: 10.1136/jmedgenet-2016-104100
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix
Khadim Shah, Muhammad Ansar, Zaib-un-Nisa Mughal, Falak Sher Khan, Wasim Ahmad, Tracey M Ferrara, Richard A Spritz

Journal of Medical Genetics Mar 2017, 54 (3) 186-189; DOI: 10.1136/jmedgenet-2016-104107

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