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Citations 1-10 of 16 total displayed.

Letters to JMG
Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22

K Pulli, K Karma, R Norio, P Sistonen, H H H Göring, I Järvelä
J. Med. Genet. 2008 45: 451 -456; published online before print as 10.1136/jmg.2007.056366 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports

J R Toro, M-H Wei, G M Glenn, M Weinreich, O Toure, C Vocke, M Turner, P Choyke, M J Merino, P A Pinto, S M Steinberg, L S Schmidt, W M Linehan
J. Med. Genet. 2008 45: 321 -331; published online before print as 10.1136/jmg.2007.054304 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations

G Kristjansdottir, J K Sandling, A Bonetti, I M Roos, L Milani, C Wang, S M Gustafsdottir, S Sigurdsson, A Lundmark, P J Tienari, K Koivisto, I Elovaara, T Pirttilä, M Reunanen, L Peltonen, J Saarela, J Hillert, T Olsson, U Landegren, A Alcina, O Fernández, L Leyva, M Guerrero, M Lucas, G Izquierdo, F Matesanz, A-C Syvänen
J. Med. Genet. 2008 45: 362 -369; published online before print as 10.1136/jmg.2007.055012 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: significant evidence for linkage at chromosome 14q24.3

G De Mars, A Windelinckx, W Huygens, M W Peeters, G P Beunen, J Aerssens, R Vlietinck, M A I Thomis
J. Med. Genet. 2008 45: 275 -283; published online before print as 10.1136/jmg.2007.055277 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

E Rossi, M Riegel, J Messa, S Gimelli, P Maraschio, R Ciccone, M Stroppi, P Riva, C S Perrotta, T Mattina, L Memo, A Baumer, V Kucinskas, C Castellan, A Schinzel, O Zuffardi
J. Med. Genet. 2008 45: 147 -154; published online before print as 10.1136/jmg.2007.054007 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
General mutation databases: analysis and review

R A George, T D Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, M A Wouters, R G H Cotton
J. Med. Genet. 2008 45: 65 -70; published online before print as 10.1136/jmg.2007.052639 [Abstract] [Full text] [PDF] [Request Permissions] [ web only tables ]  

Mutation reports
Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

F Stanke, M Ballmann, I Bronsveld, T Dörk, S Gallati, U Laabs, N Derichs, M Ritzka, H-G Posselt, H K Harms, M Griese, H Blau, G Mastella, J Bijman, H Veeze, B Tümmler
J. Med. Genet. 2008; 45: 47-54. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients

M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, F Novara, A Vetro, E Rossi, P Maraschio, M C Bonaglia, C Anichini, G B Ferrero, M Silengo, E Fazzi, A Zatterale, R Fischetto, C Previderé, S Belli, A Turci, G Calabrese, F Bernardi, E Meneghelli, M Riegel, M Rocchi, S Guerneri, F Lalatta, L Zelante, C Romano, M Fichera, T Mattina, G Arrigo, M Zollino, S Giglio, F Lonardo, A Bonfante, A Ferlini, F Cifuentes, H Van Esch, L Backx, A Schinzel, J R Vermeesch, O Zuffardi
J. Med. Genet. 2007 44: 750 -762; published online before print as 10.1136/jmg.2007.052787 [Abstract] [Full text] [PDF] [Request Permissions] [ web only tables ]  

Mutation report
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

A De Luca, I Bottillo, M C Dasdia, A Morella, V Lanari, L Bernardini, L Divona, S Giustini, L Sinibaldi, A Novelli, I Torrente, A Schirinzi, B Dallapiccola
J. Med. Genet. 2007; 44: 800-808. [Abstract] [Full text] [PDF] [Request Permissions] [ web only table ]  

Original articles
Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease

C M Lewis, S C L Whitwell, A Forbes, J Sanderson, C G Mathew, T M Marteau
J. Med. Genet. 2007 44: 689 -694; published online before print as 10.1136/jmg.2007.051672 [Abstract] [Full text] [PDF] [Request Permissions]