Volume 49; Issue 3

Journal of Medical Genetics

Volume 49; Issue 3

1

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification

Parsons, M. T., Buchanan, D. D., Thompson, B., Young, J. P., Spurdle, A. B.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 154 KB

english, 2012

2

Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease

Friso, S., Lotto, V., Choi, S.-W., Girelli, D., Pinotti, M., Guarini, P., Udali, S., Pattini, P., Pizzolo, F., Martinelli, N., Corrocher, R., Bernardi, F., Olivieri, O.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 383 KB

english, 2012

3

CDKN2A is the main susceptibility gene in Italian pancreatic cancer families

Ghiorzo, P., Fornarini, G., Sciallero, S., Battistuzzi, L., Belli, F., Bernard, L., Bonelli, L., Borgonovo, G., Bruno, W., De Cian, F., DeCensi, A., Filauro, M., Faravelli, F., Gozza, A., Gargiulo, S.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 129 KB

english, 2012

4

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

Willemsen, M. H., Vissers, L. E. L., Willemsen, M. A. A. P., van Bon, B. W. M., Kroes, T., de Ligt, J., de Vries, B. B., Schoots, J., Lugtenberg, D., Hamel, B. C. J., van Bokhoven, H., Brunner, H. G.,

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 467 KB

english, 2012

5

Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease

Hughes, D. A., Malmenas, M., Deegan, P. B., Elliott, P. M., Ginsberg, L., Hajioff, D., Ioannidis, A. S., Orteu, C. H., Ramaswami, U., West, M., Pastores, G. M., Jenkinson, C.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 292 KB

english, 2012

6

Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles

Dixon, P. H., Trongwongsa, P., Abu-Hayyah, S., Ng, S. H., Akbar, S. A., Khawaja, N. P., Seckl, M. J., Savage, P. M., Fisher, R. A.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 109 KB

english, 2012

7

Correction

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

8

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

Scionti, I., Fabbri, G., Fiorillo, C., Ricci, G., Greco, F., D'Amico, R., Termanini, A., Vercelli, L., Tomelleri, G., Cao, M., Santoro, L., Percesepe, A., Tupler, R.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 521 KB

english, 2012

9

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

Salviati, L., Trevisson, E., Rodriguez Hernandez, M. A., Casarin, A., Pertegato, V., Doimo, M., Cassina, M., Agosto, C., Desbats, M. A., Sartori, G., Sacconi, S., Memo, L., Zuffardi, O., Artuch, R., Q

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 401 KB

english, 2012

10

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

Shamseldin, H. E., Elfaki, M., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 349 KB

english, 2012

11

Single nucleotide polymorphisms in the NOS2 and NOS3 genes are associated with exhaled nitric oxide

Dahgam, S., Nyberg, F., Modig, L., Naluai, A. T., Olin, A.-C.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 396 KB

english, 2012

12

Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24

Jones, A. M., Howarth, K. M., Martin, L., Gorman, M., Mihai, R., Moss, L., Auton, A., Lemon, C., Mehanna, H., Mohan, H., Clarke, S. E. M., Wadsley, J., Macias, E., Coatesworth, A., Beasley, M., Roques

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 133 KB

english, 2012