B M C Medical Genetics
Collection
Collection
- ISSN: 14712350
Published by BMC - BioMed Central, London
-
No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease Article
B M C Medical GeneticsP. Sanchez-Juan (Pascual), M.T. Bishop (Matthew), A. Green (Alison), C. Giannattasio (Claudia), A. Arias-Vásquez (Alejandro), A. Poleggi (Anna), R.S.G. Knight (Richard) and P. Tikka-Kleemola (Päivi)
December 2007
-
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex. Article
B M C Medical GeneticsM. Nellist (Mark), O. Sancak (Ozgur), M.A. Goedbloed (Miriam), A. Adriaans (Alwin), M.W. Wessels (Marja), A.A. Maat-Kievit (Anneke), M.J.H. Baars (Marieke), C.J. Dommering (Charlotte), A.M.W. van den Ouweland (Ans) and D. Halley (Dicky)
April 2008
-
Type 2 diabetes gene TCF7L2 polymorphism is not associated with fetal and postnatal growth in two birth cohort studies Article
B M C Medical GeneticsD.O. Mook-Kanamori (Dennis), S.W.K. de Kort (Sandra), P. Tikka-Kleemola (Päivi), A.G. Uitterlinden (André), A. Hofman (Albert), H.A. Moll (Henriëtte), R.P.M. Steegers-Theunissen (Régine), A.C.S. Hokken-Koelega (Anita) and V.W.V. Jaddoe (Vincent)
July 2009
-
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex Article
B M C Medical GeneticsE. Mozaffari (Melika), M. Hoogeveen-Westerveld (Marianne), D. Kwiatkowski (David), J. Sampson (Julian), R. Ekong (Rosemary), S. Povey (Sue), J.T. den Dunnen (Johan), A.M.W. van den Ouweland (Ans), D.J.J. Halley (Dicky) and M.D. Nellist (Mark)
September 2009
-
Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study Article
B M C Medical Genetics, 11(1)J.J.M. Geelhoed (Miranda), R.P.M. Steegers-Theunissen (Régine), J.W. Koper (Jan), E.F.C. van Rossum (Liesbeth), H.A. Moll (Henriëtte), H. Raat (Hein), H.W. Tiemeier (Henning), A. Hofman (Albert) and V.W.V. Jaddoe (Vincent)
March 2010
-
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level Article
B M C Medical Genetics, 11(1)C. Pattaro (Cristian), A. de Grandi (Alessandro), V. Vitart (Veronique), C. Hayward (Caroline), A. Franke (Andre), Y.S. Aulchenko (Yurii), A. Johansson (Åsa), S.H. Wild (Sarah), S.A. Melville (Scott), A.J. Isaacs (Aaron), et al. O. Polasek (Ozren), D. Ellinghaus (David), I. Kolcic (Ivana), U. Nöthlings (Ute), L. Zgaga (Lina), T. Zemunik (Tatijana), C. Gnewuch (Carsten), S. Schreiber (Stefan), S. Campbell (Susan), N. Hastie (Nick), M. Boban (Mladen), T. Meitinger (Thomas), B.A. Oostra (Ben), P. Riegler (Peter), C. Minelli (Cosetta), A.F. Wright (Alan), H. Campbell (Harry), C.M. van Duijn (Cornelia), U. Gyllensten (Ulf), J.F. Wilson (James), M. Krawczak (Michael), I. Rudan (Igor) and P.P. Pramstaller (Peter Paul)
March 2010
-
Replication of the association of chromosomal region 9p21.3 with generalized aggressive periodontitis (gAgP) using an independent case-control cohort Article
B M C Medical Genetics, 11(1)F.D.J. Ernst (Florian), K. Uhr (Katharina), A. Teumer (Alexander), J. Fanghänel (Jutta), S. Schulz (Susanne), B. Noack (Barbara), J. Gonzales (Jose), S. Reichert (Stefan), P. Eickholz (Peter), B. Holtfreter (Birte), et al. P. Meisel (Peter), G.J. Linden (Gerard), G. Homuth (Georg) and T. Kocher (Thomas)
August 2010
-
A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient Article
B M C Medical Genetics, 11(1)M. Shahid (Mohammad), V.S. Dhillon (Varinderpal), H.S. Khalil (Hesham), S. Haque (Shameemul), S.M. Batra (Swaraj), S.A. Husain (Syed) and L.H.J. Looijenga (Leendert)
September 2010