Special collections

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

Journal of Medical Genetics Dec 2007, 44 (12) 800-808; DOI: 10.1136/jmg.2007.053785
A genome-wide scan for genes involved in primary vesicoureteric reflux
H Kelly, C M Molony, J M Darlow, M E Pirker, A Yoneda, A J Green, P Puri, D E Barton

Journal of Medical Genetics Nov 2007, 44 (11) 710-717; DOI: 10.1136/jmg.2007.051086
Germline E-cadherin mutations in familial lobular breast cancer
S Masciari, N Larsson, J Senz, N Boyd, P Kaurah, M J Kandel, L N Harris, H C Pinheiro, A Troussard, P Miron, N Tung, C Oliveira, L Collins, S Schnitt, J E Garber, D Huntsman

Journal of Medical Genetics Nov 2007, 44 (11) 726-731; DOI: 10.1136/jmg.2007.051268
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
P de Bie, P Muller, C Wijmenga, L W J Klomp

Journal of Medical Genetics Nov 2007, 44 (11) 673-688; DOI: 10.1136/jmg.2007.052746
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

Journal of Medical Genetics Nov 2007, 44 (11) 689-694; DOI: 10.1136/jmg.2007.051672
The T/G−13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population
F Imtiaz, E Savilahti, A Sarnesto, D Trabzuni, K Al-Kahtani, I Kagevi, M S Rashed, B F Meyer, I Järvelä

Journal of Medical Genetics Oct 2007, 44 (10) e89; DOI: 10.1136/jmg.2007.051631
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
I K Temple, V Shrubb, M Lever, H Bullman, D J G Mackay

Journal of Medical Genetics Oct 2007, 44 (10) 637-640; DOI: 10.1136/jmg.2007.050807
New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand
Angelika Lüdtke, Janine Buettner, Hartmut H-J Schmidt, Howard J Worman

Journal of Medical Genetics Sep 2007, 44 (9) e88; DOI: 10.1136/jmg.2007.050567
Cargos and genes: insights into vesicular transport from inherited human disease
Paul Gissen, Eamonn R Maher

Journal of Medical Genetics Sep 2007, 44 (9) 545-555; DOI: 10.1136/jmg.2007.050294
The C20orf133 gene is disrupted in a patient with Kabuki syndrome
Nicole M C Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Constance T R M Schrander-Stumpel, Damien Sanlaville, David Genevieve, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, Jean-Pierre Fryns, Joris R Vermeesch

Journal of Medical Genetics Sep 2007, 44 (9) 562-569; DOI: 10.1136/jmg.2007.049510

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