Volume 44; Issue 3

Journal of Medical Genetics

Volume 44; Issue 3

1

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study

Quarrell, O. W J, Rigby, A. S, Barron, L, Crow, Y, Dalton, A, Dennis, N, Fryer, A E, Heydon, F, Kinning, E, Lashwood, A, Losekoot, M, Margerison, L, McDonnell, S, Morrison, P J, Norman, A, Peterson, M

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 162 KB

english, 2006

2

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes

Varki, R., Sadowski, S., Uitto, J., Pfendner, E.

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 959 KB

english, 2006

3

Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population

Arredi, B., Ferlin, A., Speltra, E., Bedin, C., Zuccarello, D., Ganz, F., Marchina, E., Stuppia, L., Krausz, C., Foresta, C.

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 212 KB

english, 2006

4

Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease

Luo, A. K, Jefferson, B. K, Garcia, M. J, Ginsburg, G. S, Topol, E. J

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 143 KB

english, 2006

5

Somatic mutations of the epidermal growth factor receptor and non-small-cell lung cancer

Zhang, X., Chang, A.

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 1.09 MB

english, 2006

6

Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia

Di Leo, E., Magnolo, L., Lancellotti, S., Croce, L., Visintin, L., Tiribelli, C., Bertolini, S., Calandra, S., Tarugi, P.

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 407 KB

english, 2006

7

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia

Kanno, J., Hutchin, T., Kamada, F., Narisawa, A., Aoki, Y., Matsubara, Y., Kure, S.

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 279 KB

english, 2006

8

A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere

Thomas, N S T, Wiseman, K, Spurlock, G, MacDonald, M, Ustek, D, Upadhyaya, M

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 310 KB

english, 2006

9

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Fernandez-Vizarra, E., Berardinelli, A., Valente, L., Tiranti, V., Zeviani, M.

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 1.84 MB

english, 2006

10

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

Marchant, D, Yu, K, Bigot, K, Roche, O, Germain, A, Bonneau, D, Drouin-Garraud, V, Schorderet, D F, Munier, F, Schmidt, D, Le Neindre, P, Marsac, C, Menasche, M, Dufier, J L, Fischmeister, R, Hartzell

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 275 KB

english, 2006

11

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome

Servais, A., Fremeaux-Bacchi, V., Lequintrec, M., Salomon, R., Blouin, J., Knebelmann, B., Grunfeld, J.-P., Lesavre, P., Noel, L.-H., Fakhouri, F.

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 1.31 MB

english, 2006

12

MYO7A mutation screening in Usher syndrome type I patients from diverse origins

Jaijo, T, Aller, E, Beneyto, M, Najera, C, Graziano, C, Turchetti, D, Seri, M, Ayuso, C, Baiget, M, Moreno, F, Morera, C, Perez-Garrigues, H, Millan, J M

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 246 KB

english, 2006

13

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats

Loesch, D. Z, Bui, Q. M, Huggins, R. M, Mitchell, R. J, Hagerman, R. J, Tassone, F.

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 189 KB

english, 2006

14

Variants in mannose-binding lectin and tumour necrosis factor affect survival in cystic fibrosis

Buranawuti, K., Boyle, M. P, Cheng, S., Steiner, L. L, McDougal, K., Fallin, M D., Merlo, C., Zeitlin, P. L, Rosenstein, B. J, Mogayzel, P. J, Wang, X., Cutting, G. R

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 287 KB

english, 2006

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