Reproductive medicine

A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome
J M Wheway, S C Yau, V Nihalani, D Ellis, M Irving, M Splitt, R G Roberts

Journal of Medical Genetics Feb 2003, 40 (2) 127-131; DOI: 10.1136/jmg.40.2.127
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia
Cécile Mignon-Ravix, Pierre Cacciagli, Bilal El-Waly, Anne Moncla, Mathieu Milh, Nadine Girard, Brigitte Chabrol, Nicole Philip, Laurent Villard

Journal of Medical Genetics Feb 2010, 47 (2) 132-136; DOI: 10.1136/jmg.2009.069112
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family
N Giordano, L Gennari, M Bruttini, F Mari, I Meloni, C Baldi, S Capoccia, S Geraci, D Merlotti, A Amendola, G Martini, R Nuti, C Gennari, A Renieri

Journal of Medical Genetics Feb 2003, 40 (2) 132-135; DOI: 10.1136/jmg.40.2.132
Shared decision making and non-directiveness in genetic counselling
Glyn Elwyn, Jonathon Gray, Angus Clarke

Journal of Medical Genetics Feb 2000, 37 (2) 135-138; DOI: 10.1136/jmg.37.2.135
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin
Sarah E Heron, Ingrid E Scheffer, Xenia Iona, Sameer M Zuberi, Rachael Birch, Jacinta M McMahon, Carla M Bruce, Samuel F Berkovic, John C Mulley

Journal of Medical Genetics Feb 2010, 47 (2) 137-141; DOI: 10.1136/jmg.2008.065912
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome
P Bénit, A Slama, F Cartault, I Giurgea, D Chretien, S Lebon, C Marsac, A Munnich, A Rötig, P Rustin

Journal of Medical Genetics Jan 2004, 41 (1) 14-17; DOI: 10.1136/jmg.2003.014316
Partial trisomy 9p12p21.3 with a normal phenotype
M Stumm, J Müsebeck, H Tönnies, M Volleth, J Lemke, I Chudoba, P Wieacker

Journal of Medical Genetics Feb 2002, 39 (2) 141-144; DOI: 10.1136/jmg.39.2.141
Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections
Y Yue, K Stout, B Grossmann, U Zechner, A Brinckmann, C White, D T Pilz, T Haaf

Journal of Medical Genetics Feb 2006, 43 (2) 143-147; DOI: 10.1136/jmg.2004.029660
Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?
J Siegel-Bartlet, A Levin, A S Teebi, S J Kennedy

Journal of Medical Genetics Feb 2002, 39 (2) 145-148; DOI: 10.1136/jmg.39.2.145
Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a “Sotos-like” syndrome?
J Amiel, L Faivre, L Wilson, M Le Merrer, A Munnich, R Winter, S Lyonnet, V Cormier-Daire

Journal of Medical Genetics Feb 2002, 39 (2) 148-152; DOI: 10.1136/jmg.39.2.148

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