Journal of Medical Genetics: 49 (7)

Cancer genetics

Communications:
Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma
(20 June, 2012) Free
Nelly Sabbaghian, Nancy Hamel, Archana Srivastava, Steffen Albrecht, John R Priest, William D Foulkes
Communications:
Rare TP53 genetic variant associated with glioma risk and outcome
(15 June, 2012)
Kathleen M Egan, L Burton Nabors, Jeffrey J Olson, Alvaro N Monteiro, James E Browning, Melissa H Madden, Reid C Thompson
Original article:
Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms
(31 May, 2012)
Eduard Schulz, Angelika Valentin, Peter Ulz, Christine Beham-Schmid, Karin Lind, Verena Rupp, Herwig Lackner, Albert Wölfler, Armin Zebisch, Werner Olipitz, Jochen Geigl, Andrea Berghold, Michael R Speicher, Heinz Sill
Short report:
A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer
(31 May, 2012)
Liisa M Pelttari, Johanna Kiiski, Riikka Nurminen, Anne Kallioniemi, Johanna Schleutker, Alexandra Gylfe, Lauri A Aaltonen, Arto Leminen, Päivi Heikkilä, Carl Blomqvist, Ralf Bützow, Kristiina Aittomäki, Heli Nevanlinna

Short report:
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia
(20 June, 2012)
Claus Eric Ott, Hendrikje Hein, Silke Lohan, Jeannette Hoogeboom, Nicola Foulds, Johannes Grünhagen, Sigmar Stricker, Pablo Villavicencio-Lorini, Eva Klopocki, Stefan Mundlos
Original article:
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer
(11 July, 2012)
Sara Benito-Sanz, Jose Luis Royo, Eva Barroso, Beatriz Paumard-Hernández, Ana C Barreda-Bonis, Pengfei Liu, Ricardo Gracía, James R Lupski, Ángel Campos-Barros, José Luis Gómez-Skarmeta, Karen Elise Heath
Short report: Homozygous deletion of Tenascin-R in a patient with intellectual disability (22 June, 2012)
David Dufresne, Fadi F Hamdan, Jill A Rosenfeld, Beth Torchia, Bernard Rosenblatt, Jacques L Michaud, Myriam Srour

Original article:
Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus
(31 May, 2012)
Muneera J Alshammari, Lefian Al-Otaibi, Fowzan S Alkuraya
Original article: A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis (20 June, 2012)
Yifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, David Savitzki, Yishay Shoval, Assnat Bloom, Raya Rod, Morad Khayat, Bella Gross, Walid Samri, Hector Cohen, Vadim Sonkin, Tatiana Freidman, Dan Geiger, Aviva Fattal-Valevski, Yair Anikster, Aoife M Waters, Robert Kleta, Tzipora C Falik-Zaccai

Original article:
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
(11 July, 2012)
Benjamin D Solomon, Kelly A Bear, Adrian Wyllie, Amelia A Keaton, Christele Dubourg, Veronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimee Paulussen, Nancy J Clegg, Mauricio R Delgado, Sherri J Bale, Felicitas Lacbawan, Holly H Ardinger, Arthur S Aylsworth, Ntombenhle Louisa Bhengu, Stephen Braddock, Karen Brookhyser, Barbara Burton, Harald Gaspar, Art Grix, Dafne Horovitz, Erin Kanetzke, Hulya Kayserili, Dorit Lev, Sarah M Nikkel, Mary Norton, Richard Roberts, Howard Saal, G B Schaefer, Adele Schneider, Erika K Smith, Ellen Sowry, M Anne Spence, Stavit A Shalev, Carlos E Steiner, Elizabeth M Thompson, Thomas L Winder, Joan Z Balog, Donald W Hadley, Nan Zhou, Daniel E Pineda-Alvarez, Erich Roessler, Maximilian Muenke