Volume 49; Issue 6

Journal of Medical Genetics

Volume 49; Issue 6

1

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

Martinez, F. J., Lee, J. H., Lee, J. E., Blanco, S., Nickerson, E., Gabriel, S., Frye, M., Al-Gazali, L., Gleeson, J. G.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 613 KB

english, 2012

2

Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas

Harinck, F., Kluijt, I., van der Stoep, N., Oldenburg, R. A., Wagner, A., Aalfs, C. M., Sijmons, R. H., Poley, J.-W., Kuipers, E. J., Fockens, P., van Os, T. A. M., Bruno, M. J.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 107 KB

english, 2012

3

A human laterality disorder associated with recessive CCDC11 mutation

Perles, Z., Cinnamon, Y., Ta-Shma, A., Shaag, A., Einbinder, T., Rein, A. J. J. T., Elpeleg, O.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 624 KB

english, 2012

4

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

Santen, G. W. E., Sun, Y., Gijsbers, A. C. J., Carre, A., Holvoet, M., Haeringen, A. v., Lesnik Oberstein, S. A. J., Tomoda, A., Mabe, H., Polak, M., Devriendt, K., Ruivenkamp, C. A. L., Bijlsma, E. K

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 384 KB

english, 2012

5

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

Thevenon, J., Lopez, E., Keren, B., Heron, D., Mignot, C., Altuzarra, C., Beri-Dexheimer, M., Bonnet, C., Magnin, E., Burglen, L., Minot, D., Vigneron, J., Morle, S., Anheim, M., Charles, P., Brice, A

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 697 KB

english, 2012

6

OTX2 mutations contribute to the otocephaly-dysgnathia complex

Chassaing, N., Sorrentino, S., Davis, E. E., Martin-Coignard, D., Iacovelli, A., Paznekas, W., Webb, B. D., Faye-Petersen, O., Encha-Razavi, F., Lequeux, L., Vigouroux, A., Yesilyurt, A., Boyadjiev, S

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 605 KB

english, 2012

7

Clinical application of exome sequencing in undiagnosed genetic conditions

Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M. T., Meisler, M. H., Goldstein, D. B.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 216 KB

english, 2012

8

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 969 KB

english, 2012

9

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Blanchon, S., Legendre, M., Copin, B., Duquesnoy, P., Montantin, G., Kott, E., Dastot, F., Jeanson, L., Cachanado, M., Rousseau, A., Papon, J. F., Beydon, N., Brouard, J., Crestani, B., Deschildre, A.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 470 KB

english, 2012