Volume 50; Issue 2

Journal of Medical Genetics

Volume 50; Issue 2

1

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Drusedau, M., Spierts, S., Coonen, E., van Tienen, F. H. J., van Golde, R. J. T., de Coo, I. F. M., Geraedts, J. P. M., de Die-Smulders, C. E. M., Smeets,

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 1.41 MB

english, 2013

2

Variants of Uncertain Significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling

Moghadasi, S., Hofland, N., Wouts, J. N., Hogervorst, F. B. L., Wijnen, J. T., Vreeswijk, M. P. G., van Asperen, C. J.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 263 KB

english, 2013

3

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

Baujat, G., Huber, C., El Hokayem, J., Caumes, R., Do Ngoc Thanh, C., David, A., Delezoide, A.-L., Dieux-Coeslier, A., Estournet, B., Francannet, C., Kayirangwa, H., Lacaille, F., Le Bourgeois, M., Ma

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 344 KB

english, 2013

4

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy

Edvardson, S., Oz, S., Abulhijaa, F. A., Taher, F. B., Shaag, A., Zenvirt, S., Dascal, N., Elpeleg, O.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 267 KB

english, 2013

5

Skewed X-inactivation patterns in ageing healthy and myelodysplastic haematopoiesis determined by a pyrosequencing based transcriptional clonality assay

Mossner, M., Nolte, F., Hutter, G., Reins, J., Klaumunzer, M., Nowak, V., Oblander, J., Ackermann, K., Will, S., Rohl, H., Neumann, U., Neumann, M., Hopfer, O., Baldus, C. D., Hofmann, W.-K., Nowak, D

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 543 KB

english, 2013

6

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

Ciccolella, M., Corti, S., Catteruccia, M., Petrini, S., Tozzi, G., Rizza, T., Carrozzo, R., Nizzardo, M., Bordoni, A., Ronchi, D., D'Amico, A., Rizzo, C., Comi, G. P., Bertini, E.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 230 KB

english, 2013

7

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

McDonald-McGinn, D. M., Fahiminiya, S., Revil, T., Nowakowska, B. A., Suhl, J., Bailey, A., Mlynarski, E., Lynch, D. R., Yan, A. C., Bilaniuk, L. T., Sullivan, K. E., Warren, S. T., Emanuel, B. S., Ve

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 466 KB

english, 2013

8

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction

De Crescenzo, A., Sparago, A., Cerrato, F., Palumbo, O., Carella, M., Miceli, M., Bronshtein, M., Riccio, A., Yaron, Y.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 210 KB

english, 2013

9

Mutation of HERC2 causes developmental delay with Angelman-like features

Harlalka, G. V., Baple, E. L., Cross, H., Kuhnle, S., Cubillos-Rojas, M., Matentzoglu, K., Patton, M. A., Wagner, K., Coblentz, R., Ford, D. L., Mackay, D. J. G., Chioza, B. A., Scheffner, M., Rosa, J

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 425 KB

english, 2013

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