Genetic screening / counselling

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype
Boyan Dimitrov, Irina Balikova, Thomy de Ravel, Hilde Van Esch, Maryse De Smedt, Emiel Baten, Joris Robert Vermeesch, Irena Bradinova, Emil Simeonov, Koen Devriendt, Jean-Pierre Fryns, Philippe Debeer

Journal of Medical Genetics Feb 2011, 48 (2) 98-104; DOI: 10.1136/jmg.2010.079491
BBS10 mutations are common in ‘Meckel’-type cystic kidneys
Audrey Putoux, Soumaya Mougou-Zerelli, Sophie Thomas, Nadia Elkhartoufi, Sophie Audollent, Martine Le Merrer, Augusta Lachmeijer, Sabine Sigaudy, Annie Buenerd, Carla Fernandez, Anne-Lise Delezoide, Marie-Claire Gubler, Rémi Salomon, Ali Saad, Marie-Pierre Cordier, Michel Vekemans, Raymonde Bouvier, Tania Attie-Bitach

Journal of Medical Genetics Dec 2010, 47 (12) 848-852; DOI: 10.1136/jmg.2010.079392
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia
B Pérez, F Mechinaud, C Galambrun, N Ben Romdhane, B Isidor, N Philip, J Derain-Court, B Cassinat, J Lachenaud, S Kaltenbach, A Salmon, C Désirée, S Pereira, M L Menot, N Royer, O Fenneteau, A Baruchel, C Chomienne, A Verloes, H Cavé

Journal of Medical Genetics Oct 2010, 47 (10) 686-691; DOI: 10.1136/jmg.2010.076836
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
J Dai, O-H Kim, T-J Cho, M Schmidt-Rimpler, H Tonoki, K Takikawa, N Haga, K Miyoshi, H Kitoh, W-J Yoo, I-H Choi, H-R Song, D-K Jin, H-T Kim, H Kamasaki, P Bianchi, G Grigelioniene, S Nampoothiri, M Minagawa, S-i Miyagawa, T Fukao, C Marcelis, M C E Jansweijer, R C M Hennekam, F Bedeschi, A Mustonen, Q Jiang, H Ohashi, T Furuichi, S Unger, B Zabel, E Lausch, A Superti-Furga, G Nishimura, S Ikegawa

Journal of Medical Genetics Oct 2010, 47 (10) 704-709; DOI: 10.1136/jmg.2009.075358
Multiple cutaneous squamous cell carcinomas in a patient with interferon γ receptor 2 (IFNγR2) deficiency
Hidemi Toyoda, Masaru Ido, Kyoichi Nakanishi, Takashi Nakano, Hitoshi Kamiya, Akihiko Matsumine, Atsumasa Uchida, Hitoshi Mizutani, Ludovic de Beaucoudrey, Guillaume Vogt, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Yoshihiro Komada

Journal of Medical Genetics Sep 2010, 47 (9) 631-634; DOI: 10.1136/jmg.2009.072108
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
S Bernal, L Alías, M J Barceló, E Also-Rallo, R Martínez-Hernández, J Gámez, E Guillén-Navarro, J Rosell, I Hernando, F J Rodríguez-Alvarez, S Borrego, J M Millán, C Hernández-Chico, M Baiget, P Fuentes-Prior, E F Tizzano

Journal of Medical Genetics Sep 2010, 47 (9) 640-642; DOI: 10.1136/jmg.2010.079004
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly
Nadezda Maksimova, Kenju Hara, Irina Nikolaeva, Tan Chun-Feng, Tomoaki Usui, Mineo Takagi, Yasushi Nishihira, Akinori Miyashita, Hiroshi Fujiwara, Tokuhide Oyama, Anna Nogovicina, Aitalina Sukhomyasova, Svetlana Potapova, Ryozo Kuwano, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera

Journal of Medical Genetics Aug 2010, 47 (8) 538-548; DOI: 10.1136/jmg.2009.074815
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
Homa Tajsharghi, Trond P Leren, Saba Abdul-Hussein, Mar Tulinius, Leif Brunvand, Hilde M Dahl, Anders Oldfors

Journal of Medical Genetics Aug 2010, 47 (8) 575-577; DOI: 10.1136/jmg.2009.072710
High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings
M Tyreman, K M Abbott, L R Willatt, R Nash, C Lees, J Whittaker, I Simonic

Journal of Medical Genetics Aug 2009, 46 (8) 531-541; DOI: 10.1136/jmg.2008.065482
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia
L Bonafé, J Hästbacka, A de la Chapelle, A B Campos-Xavier, C Chiesa, A Forlino, A Superti-Furga, A Rossi

Journal of Medical Genetics Dec 2008, 45 (12) 827-831; DOI: 10.1136/jmg.2007.057158

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