Reproductive medicine

Citations 1-10 of 412 total displayed.

Review
Encephalocraniocutaneous lipomatosis

U Moog
J. Med. Genet. 2009 46: 721 -729; published online before print as 10.1136/jmg.2009.066068 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy

Y Bacq, C Gendrot, F Perrotin, L Lefrou, S Chrétien, V Vie-Buret, M-C Brechot, C R Andres
J. Med. Genet. 2009 46: 711 -715; published online before print as 10.1136/jmg.2009.067397 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
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
J. Med. Genet. 2009 46: 531 -541; published online before print as 10.1136/jmg.2008.065482 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendicies ]  

Mutation report
Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region

C M Wang, P H Dixon, S Decordova, M D Hodges, N J Sebire, S Ozalp, M Fallahian, A Sensi, F Ashrafi, V Repiska, J Zhao, Y Xiang, P M Savage, M J Seckl, R A Fisher
J. Med. Genet. 2009 46: 569 -575; published online before print as 10.1136/jmg.2008.064196 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Short reports
Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2

P Laissue, B Lakhal, B A Benayoun, A Dipietromaria, R Braham, H Elghezal, P Philibert, A Saâd, C Sultan, M Fellous, R A Veitia
J. Med. Genet. 2009 46: 455 -457; published online before print as 10.1136/jmg.2008.065086 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Genome-wide linkage scan for plasma high density lipoprotein cholesterol, apolipoprotein A-1 and triglyceride variation among American Indian populations: the Strong Heart Family Study

X Li, K L Monda, H H H Göring, K Haack, S A Cole, V P Diego, L Almasy, S Laston, B V Howard, N M Shara, E T Lee, L G Best, R R Fabsitz, J W MacCluer, Kari E North
J. Med. Genet. 2009 46: 472 -479; published online before print as 10.1136/jmg.2008.063891 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendicies ]  

Mutation reports
Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

C P Kratz, S Holter, J Etzler, M Lauten, A Pollett, C M Niemeyer, S Gallinger, K Wimmer
J. Med. Genet. 2009 46: 418 -420; published online before print as 10.1136/jmg.2008.064212 [Abstract] [Full text] [PDF] [Request Permissions]  

Short report
Germline mutation in DOK7 associated with fetal akinesia deformation sequence

J Vogt, N V Morgan, T Marton, S Maxwell, B J Harrison, D Beeson, E R Maher
J. Med. Genet. 2009 46: 338 -340; published online before print as 10.1136/jmg.2008.065425 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

R A Maselli, J J Ng, J A Anderson, O Cagney, J Arredondo, C Williams, H B Wessel, H Abdel-Hamid, R L Wollmann
J. Med. Genet. 2009; 46: 203-208. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background

C Krausz, C Giachini, Y Xue, M K O’Bryan, J Gromoll, E Rajpert-de Meyts, R Oliva, I Aknin-Seifer, E Erdei, N Jorgensen, M Simoni, J L Ballescà, R Levy, G Balercia, P Piomboni, E Nieschlag, G Forti, R McLachlan, C Tyler-Smith
J. Med. Genet. 2009 46: 21 -31; published online before print as 10.1136/jmg.2008.059915 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]