Reproductive medicine

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
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development
Gwang-Jin Kim, Elisabeth Sock, Astrid Buchberger, Walter Just, Friederike Denzer, Wolfgang Hoepffner, James German, Trevor Cole, Jillian Mann, John H Seguin, William Zipf, Colm Costigan, Hardi Schmiady, Moritz Rostásy, Mildred Kramer, Simon Kaltenbach, Bernd Rösler, Ina Georg, Elke Troppmann, Anne-Christin Teichmann, Anika Salfelder, Sebastian A Widholz, Peter Wieacker, Olaf Hiort, Giovanna Camerino, Orietta Radi, Michael Wegner, Hans-Henning Arnold, Gerd Scherer

Journal of Medical Genetics Apr 2015, 52 (4) 240-247; DOI: 10.1136/jmedgenet-2014-102864
Gastric cancer: somatic genetics as a guide to therapy
Xiao-ying Zhang, Pei-ying Zhang

Journal of Medical Genetics May 2017, 54 (5) 305-312; DOI: 10.1136/jmedgenet-2016-104171
Congenital valvular defects associated with deleterious mutations in the PLD1 gene
Asaf Ta-Shma, Kai Zhang, Ekaterina Salimova, Alma Zernecke, Daniel Sieiro-Mosti, David Stegner, Milena Furtado, Avraham Shaag, Zeev Perles, Bernhard Nieswandt, Azaria J J T Rein, Nadia Rosenthal, Aaron M Neiman, Orly Elpeleg

Journal of Medical Genetics Apr 2017, 54 (4) 278-286; DOI: 10.1136/jmedgenet-2016-104259
Carriers of a VEGFA enhancer polymorphism selectively binding CHOP/DDIT3 are predisposed to increased circulating levels of thyroid-stimulating hormone
Tarunveer Singh Ahluwalia, Jesper Thorvald Troelsen, Marie Balslev-Harder, Jette Bork-Jensen, Betina Heinsbæk Thuesen, Charlotte Cerqueira, Allan Linneberg, Niels Grarup, Oluf Pedersen, Torben Hansen, Louise Torp Dalgaard

Journal of Medical Genetics Mar 2017, 54 (3) 166-175; DOI: 10.1136/jmedgenet-2016-104084
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
C Bellanné-Chantelot, C Saint-Martin, M-J Ribeiro, C Vaury, V Verkarre, J-B Arnoux, V Valayannopoulos, S Gobrecht, C Sempoux, J Rahier, J-C Fournet, F Jaubert, Y Aigrain, C Nihoul-Fékété, P de Lonlay

Journal of Medical Genetics Nov 2010, 47 (11) 752-759; DOI: 10.1136/jmg.2009.075416
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium
Christine Fischer, Karoline Kuchenbäcker, Christoph Engel, Silke Zachariae, Kerstin Rhiem, Alfons Meindl, Nils Rahner, Nicola Dikow, Hansjörg Plendl, Irmgard Debatin, Tiemo Grimm, Dorothea Gadzicki, Ricarda Flöttmann, Judit Horvath, Evelin Schröck, Friedrich Stock, Dieter Schäfer, Ira Schwaab, Christiana Kartsonaki, Nasim Mavaddat, Brigitte Schlegelberger, Antonis C Antoniou, Rita Schmutzler, on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer

Journal of Medical Genetics Jun 2013, 50 (6) 360-367; DOI: 10.1136/jmedgenet-2012-101415
Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population
Barbara Arredi, Alberto Ferlin, Elena Speltra, Chiara Bedin, Daniela Zuccarello, Francesco Ganz, Eleonora Marchina, Liborio Stuppia, Csilla Krausz, Carlo Foresta

Journal of Medical Genetics Mar 2007, 44 (3) 205-208; DOI: 10.1136/jmg.2006.046433
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
A M Slavotinek, C J Tifft

Journal of Medical Genetics Sep 2002, 39 (9) 623-633; DOI: 10.1136/jmg.39.9.623

Main menu

Reproductive medicine

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Reproductive medicine

Pages