Volume 45; Issue 7

Journal of Medical Genetics

Volume 45; Issue 7

1

Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study

Jin, Z-B, Mandai, M, Yokota, T, Higuchi, K, Ohmori, K, Ohtsuki, F, Takakura, S, Itabashi, T, Wada, Y, Akimoto, M, Ooto, S, Suzuki, T, Hirami, Y, Ikeda, H, Kawagoe, N, Oishi, A, Ichiyama, S, Takahashi,

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 889 KB

english, 2008

2

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

Bonnet, C, Krieger, S, Vezain, M, Rousselin, A, Tournier, I, Martins, A, Berthet, P, Chevrier, A, Dugast, C, Layet, V, Rossi, A, Lidereau, R, Frebourg, T, Hardouin, A, Tosi, M

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 482 KB

english, 2008

3

Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population

Song, Y L, Wang, C N, Fan, M W, Su, B, Bian, Z

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.62 MB

english, 2008

4

Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics

Antoniou, A C, Hardy, R, Walker, L, Evans, D G, Shenton, A, Eeles, R, Shanley, S, Pichert, G, Izatt, L, Rose, S, Douglas, F, Eccles, D, Morrison, P J, Scott, J, Zimmern, R L, Easton, D F, Pharoah, P D

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 260 KB

english, 2008

5

Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22

Pulli, K, Karma, K, Norio, R, Sistonen, P, Goring, H H H, Jarvela, I

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 668 KB

english, 2008

6

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders

Morleo, M, Franco, B

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.11 MB

english, 2008

7

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

Kuniba, H, Tsuda, M, Nakashima, M, Miura, S, Miyake, N, Kondoh, T, Matsumoto, T, Moriuchi, H, Ohashi, H, Kurosawa, K, Tonoki, H, Nagai, T, Okamoto, N, Kato, M, Fukushima, Y, Naritomi, K, Matsumoto, N,

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 321 KB

english, 2008

8

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

Mineri, R, Rimoldi, M, Burlina, A B, Koskull, S, Perletti, C, Heese, B, von Dobeln, U, Mereghetti, P, Di Meo, I, Invernizzi, F, Zeviani, M, Uziel, G, Tiranti, V

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.04 MB

english, 2008

9

Heterogeneity in the processing defect of SLC26A4 mutants

Yoon, J S, Park, H-J, Yoo, S-Y, Namkung, W, Jo, M J, Koo, S K, Park, H-Y, Lee, W-S, Kim, K H, Lee, M G

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 2.61 MB

english, 2008

10

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes

Monfort, S, Rosello, M, Orellana, C, Oltra, S, Blesa, D, Kok, K, Ferrer, I, Cigudosa, J C, Martinez, F

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 379 KB

english, 2008

11

Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers

Hopper, J. L, Dowty, J. G, Apicella, C., Southey, M. C, Giles, G. G, Winship, I.

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 128 KB

english, 2008

12

Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population

Galan, J J., Buch, B, Pedrinaci, S, Jimenez-Gamiz, P, Gonzalez, A, Serrano-Rios, M, Salinas, A, Rivero, M d. C., Real, L M, Royo, J L, Ruiz, A

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 476 KB

english, 2008

13

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

Jehee, F S, Krepischi-Santos, A C V, Rocha, K M, Cavalcanti, D P, Kim, C A, Bertola, D R, Alonso, L G, D'Angelo, C S, Mazzeu, J F, Froyen, G, Lugtenberg, D, Vianna-Morgante, A M, Rosenberg, C, Passos-

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 210 KB

english, 2008

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