Volume 52; Issue 7

Journal of Medical Genetics

Volume 52; Issue 7

1

Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer

Castillejo, A., Hernandez-Illan, E., Rodriguez-Soler, M., Perez-Carbonell, L., Egoavil, C., Barbera, V. M., Castillejo, M.-I., Guarinos, C., Martinez-de-Duenas, E., Juan, M.-J., Sanchez-Heras, A.-B.,

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 252 KB

english, 2015

2

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Azzi, S., Salem, J., Thibaud, N., Chantot-Bastaraud, S., Lieber, E., Netchine, I., Harbison, M. D.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 447 KB

english, 2015

3

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Boycott, K., Hartley, T., Adam, S., Bernier, F., Chong, K., Fernandez, B. A., Friedman, J. M., Geraghty, M. T., Hume, S., Knoppers, B. M., Laberge, A.-M., Majewski, J., Mendoza-Londono, R., Meyn, M. S

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 326 KB

english, 2015

4

Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration

Pras, E., Kristal, D., Shoshany, N., Volodarsky, D., Vulih, I., Celniker, G., Isakov, O., Shomron, N., Pras, E.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 537 KB

english, 2015

5

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

Lerner-Ellis, J., Wang, M., White, S., Lebo, M. S., Canadian Open Genetics Repository Group,, Agatep, R., Ainsworth, P., Akbari, M. R., Aronson, M., Bader, G. D., Basran, R., Blavier, A., Blumenthal,

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 475 KB

english, 2015

6

Loss-of-function de novo mutations play an important role in severe human neural tube defects

Lemay, P., Guyot, M.-C., Tremblay, E., Dionne-Laporte, A., Spiegelman, D., Henrion, E., Diallo, O., De Marco, P., Merello, E., Massicotte, C., Desilets, V., Michaud, J. L., Rouleau, G. A., Capra, V.,

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 261 KB

english, 2015

7

Pallister-Killian syndrome: a study of 22 British patients

Blyth, M., Maloney, V., Beal, S., Collinson, M., Huang, S., Crolla, J., Temple, I. K., Baralle, D.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 2.07 MB

english, 2015

8

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Flottmann, R., Wagner, J., Kobus, K., Curry, C. J., Savarirayan, R., Nishimura, G., Yasui, N., Spranger, J., Van Esch, H., Lyons, M. J., DuPont, B. R., Dwivedi, A., Klopocki, E., Horn, D., Mundlos, S.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.55 MB

english, 2015

9

A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects

Jervis, S., Song, H., Lee, A., Dicks, E., Harrington, P., Baynes, C., Manchanda, R., Easton, D. F., Jacobs, I., Pharoah, P. P. D., Antoniou, A. C.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

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