Volume 51; Issue 8

Journal of Medical Genetics

Volume 51; Issue 8

1

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

Futema, M., Plagnol, V., Li, K., Whittall, R. A., Neil, H. A. W., Seed, M., Bertolini, S., Calandra, S., Descamps, O. S., Graham, C. A., Hegele, R. A., Karpe, F., Durst, R., Leitersdorf, E., Lench, N.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 528 KB

english, 2014

2

Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation

Wells, D., Kaur, K., Grifo, J., Glassner, M., Taylor, J. C., Fragouli, E., Munne, S.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.16 MB

english, 2014

3

Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria

Frishberg, Y., Zeharia, A., Lyakhovetsky, R., Bargal, R., Belostotsky, R.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 981 KB

english, 2014

4

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission

Demars, J., Shmela, M. E., Khan, A. W., Lee, K. S., Azzi, S., Dehais, P., Netchine, I., Rossignol, S., Le Bouc, Y., El-Osta, A., Gicquel, C.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 3.66 MB

english, 2014

5

Mutations in SETD2 cause a novel overgrowth condition

Luscan, A., Laurendeau, I., Malan, V., Francannet, C., Odent, S., Giuliano, F., Lacombe, D., Touraine, R., Vidaud, M., Pasmant, E., Cormier-Daire, V.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 446 KB

english, 2014

6

SLC39A5 mutations interfering with the BMP/TGF- pathway in non-syndromic high myopia

Guo, H., Jin, X., Zhu, T., Wang, T., Tong, P., Tian, L., Peng, Y., Sun, L., Wan, A., Chen, J., Liu, Y., Li, Y., Tian, Q., Xia, L., Zhang, L., Pan, Y., Lu, L., Liu, Q., Shen, L., Li, Y., Xiong, W., Li,

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 9.94 MB

english, 2014

7

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

Ioannides, Y., Lokulo-Sodipe, K., Mackay, D. J. G., Davies, J. H., Temple, I. K.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 453 KB

english, 2014

8

A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population

Terao, C., Terada, N., Matsuo, K., Kawaguchi, T., Yoshimura, K., Hayashi, N., Shimizu, M., Soga, N., Takahashi, M., Kotoura, Y., Yamada, R., Ogawa, O., Matsuda, F.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.37 MB

english, 2014

9

High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families

Helgadottir, H., Hoiom, V., Jonsson, G., Tuominen, R., Ingvar, C., Borg, A., Olsson, H., Hansson, J.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 420 KB

english, 2014