Reproductive medicine

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy
C C Garcia, H J Blair, M Seager, A Coulthard, S Tennant, M Buddles, A Curtis, J A Goodship

Journal of Medical Genetics Mar 2004, 41 (3) 183-186; DOI: 10.1136/jmg.2003.013680
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2
C M Armour, M E McCready, A Baig, A G W Hunter, D E Bulman

Journal of Medical Genetics Mar 2002, 39 (3) 186-188; DOI: 10.1136/jmg.39.3.186
Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia
Kamila Kusz-Zamelczyk, Marcin Sajek, Anna Spik, Renata Glazar, Piotr Jędrzejczak, Anna Latos-Bieleńska, Maciej Kotecki, Leszek Pawelczyk, Jadwiga Jaruzelska

Journal of Medical Genetics Mar 2013, 50 (3) 187-193; DOI: 10.1136/jmedgenet-2012-101230
Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases
V Cormier-Daire, A L Delezoide, N Philip, P Marcorelles, K Casas, Y Hillion, L Faivre, D L Rimoin, A Munnich, P Maroteaux, M Le Merrer

Journal of Medical Genetics Mar 2003, 40 (3) 195-200; DOI: 10.1136/jmg.40.3.195
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia
Serena Nik-Zainal, Reiner Strick, Mekayla Storer, Ni Huang, Roland Rad, Lionel Willatt, Tomas Fitzgerald, Vicki Martin, Richard Sandford, Nigel P Carter, Andreas R Janecke, Stefan P Renner, Patricia G Oppelt, Peter Oppelt, Christine Schulze, Sara Brucker, Matthew Hurles, Matthias W Beckmann, Pamela L Strissel, Charles Shaw-Smith

Journal of Medical Genetics Mar 2011, 48 (3) 197-204; DOI: 10.1136/jmg.2010.082412
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia
Lan Yu, James T Bennett, Julia Wynn, Gemma L Carvill, Yee Him Cheung, Yufeng Shen, George B Mychaliska, Kenneth S Azarow, Timothy M Crombleholme, Dai H Chung, Douglas Potoka, Brad W Warner, Brian Bucher, Foong-Yen Lim, John Pietsch, Charles Stolar, Gudrun Aspelund, Marc S Arkovitz, University of Washington Center for Mendelian Genomics, Heather Mefford, Wendy K Chung

Journal of Medical Genetics Mar 2014, 51 (3) 197-202; DOI: 10.1136/jmedgenet-2013-101989
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips
G R Mortier, P P G Kramer, A Giedion, F A Beemer

Journal of Medical Genetics Mar 2003, 40 (3) 201-207; DOI: 10.1136/jmg.40.3.201
Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region
M G Butler, D Bittel, Z Talebizadeh

Journal of Medical Genetics Mar 2002, 39 (3) 202-204; DOI: 10.1136/jmg.39.3.202
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
L Basel-Vanagaite, R Attia, M Yahav, R J Ferland, L Anteki, C A Walsh, T Olender, R Straussberg, N Magal, E Taub, V Drasinover, A Alkelai, D Bercovich, G Rechavi, A J Simon, M Shohat

Journal of Medical Genetics Mar 2006, 43 (3) 203-210; DOI: 10.1136/jmg.2005.035709
Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles
Peter H Dixon, Pirada Trongwongsa, Shadi Abu-Hayyah, Sze Hwei Ng, Syed Ali Akbar, Nuzhat P Khawaja, Michael J Seckl, Philip M Savage, Rosemary A Fisher

Journal of Medical Genetics Mar 2012, 49 (3) 206-211; DOI: 10.1136/jmedgenet-2011-100602

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