Reproductive medicine

Germline RRAS2 mutations are not associated with Noonan syndrome
John J Ceremsak, Ariel Yu, Emilio Esquivel, Christina Lissewski, Martin Zenker, Mignon L Loh, Elliot Stieglitz

Journal of Medical Genetics Nov 2016, 53 (11) 728; DOI: 10.1136/jmedgenet-2016-103889
Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia
K A Kaiser-Rogers, D E McFadden, C A Livasy, J Dansereau, R Jiang, J F Knops, L Lefebvre, K W Rao, W P Robinson

Journal of Medical Genetics Feb 2006, 43 (2) 187-192; DOI: 10.1136/jmg.2005.033571
Somatic point mutations occurring early in development: a monozygotic twin study
Rui Li, Alexandre Montpetit, Marylène Rousseau, Si Yu Margaret Wu, Celia M T Greenwood, Timothy D Spector, Michael Pollak, Constantin Polychronakos, J Brent Richards

Journal of Medical Genetics Jan 2014, 51 (1) 28-34; DOI: 10.1136/jmedgenet-2013-101712
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
Roslyn Varki, Sara Sadowski, Jouni Uitto, Ellen Pfendner

Journal of Medical Genetics Mar 2007, 44 (3) 181-192; DOI: 10.1136/jmg.2006.045302
Congenital heart disease is a feature of severe infantile spinal muscular atrophy
S Rudnik-Schöneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, K Zerres

Journal of Medical Genetics Oct 2008, 45 (10) 635-638; DOI: 10.1136/jmg.2008.057950
Screening families with endometrial and colorectal cancers for germline mutations
Tao Liu, Jindong Chen, Sima Salahshor, Shannon Kuismanen, Eva Holmberg, Henrik Grönberg, Päivi Peltomäki, Annika Lindblom

Journal of Medical Genetics Sep 2001, 38 (9) e29; DOI: 10.1136/jmg.38.9.e29
CTNND2—a candidate gene for reading problems and mild intellectual disability
Wolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, Britt-Marie Anderlid, Fahimeh Darki, Hans Matsson, Isabel Tapia Páez, Torkel Klingberg, Lena Samuelsson, Valtteri Wirta, Francesco Vezzi, Juha Kere, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Anna Lindstrand

Journal of Medical Genetics Feb 2015, 52 (2) 111-122; DOI: 10.1136/jmedgenet-2014-102757
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)
Maria Wilbe, Sara Ekvall, Karin Eurenius, Katharina Ericson, Olivera Casar-Borota, Joakim Klar, Niklas Dahl, Adam Ameur, Göran Annerén, Marie-Louise Bondeson

Journal of Medical Genetics Mar 2015, 52 (3) 195-202; DOI: 10.1136/jmedgenet-2014-102730
Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism
P J Yong, I J Barrett, D K Kalousek, W P Robinson

Journal of Medical Genetics Mar 2003, 40 (3) 175-182; DOI: 10.1136/jmg.40.3.175
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants
R Varki, S Sadowski, E Pfendner, J Uitto

Journal of Medical Genetics Aug 2006, 43 (8) 641-652; DOI: 10.1136/jmg.2005.039685

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