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July 2008 (Volume 45, Number 7). [Index by author]

		Review Commentaries Original articles Short report Letters to JMG Mutation report PostScript

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Table of Contents (PDF) | Front Matter (PDF)

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Review

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders
M Morleo and B Franco
J Med Genet 2008; 45: 401-408. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 7 May 2008. doi:10.1136/jmg.2008.058305

Commentaries

Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers
John L Hopper, James G Dowty, Carmel Apicella, Melissa C Southey, Graham G Giles, and Ingrid Winship
J Med Genet 2008; 45: 409-410. [Extract] [Full text] [PDF] [Request Permissions]
Published Online First: 2 May 2008. doi:10.1136/jmg.2008.058057

Original articles

Heterogeneity in the processing defect of SLC26A4 mutants
J S Yoon, H-J Park, S-Y Yoo, W Namkung, M J Jo, S K Koo, H-Y Park, W-S Lee, K H Kim, and M G Lee
J Med Genet 2008; 45: 411-419. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 29 February 2008. doi:10.1136/jmg.2007.054635

Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population
J Jorge Galan, B Buch, S Pedrinaci, P Jimenez-Gamiz, A Gonzalez, M Serrano-Rios, A Salinas, M del Carmen Rivero, L M Real, J L Royo, and A Ruiz
J Med Genet 2008; 45: 420-424. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 18 April 2008. doi:10.1136/jmg.2007.056952

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
A C Antoniou, R Hardy, L Walker, D G Evans, A Shenton, R Eeles, S Shanley, G Pichert, L Izatt, S Rose, F Douglas, D Eccles, P J Morrison, J Scott, R L Zimmern, D F Easton, and P D P Pharoah
J Med Genet 2008; 45: 425-431. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 April 2008. doi:10.1136/jmg.2007.056556

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes
S Monfort, M Roselló, C Orellana, S Oltra, D Blesa, K Kok, I Ferrer, J C Cigudosa, and F Martínez
J Med Genet 2008; 45: 432-437. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 15 April 2008. doi:10.1136/jmg.2008.057596

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
C Bonnet, S Krieger, M Vezain, A Rousselin, I Tournier, A Martins, P Berthet, A Chevrier, C Dugast, V Layet, A Rossi, R Lidereau, T Frébourg, A Hardouin, and M Tosi
J Med Genet 2008; 45: 438-446. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 18 April 2008. doi:10.1136/jmg.2007.056895

Short report

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
F S Jehee, A C V Krepischi-Santos, K M Rocha, D P Cavalcanti, C A Kim, D R Bertola, L G Alonso, C S D’Angelo, J F Mazzeu, G Froyen, D Lugtenberg, A M Vianna-Morgante, C Rosenberg, and M R Passos-Bueno
J Med Genet 2008; 45: 447-450. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 2 May 2008. doi:10.1136/jmg.2007.057042

Letters to JMG

Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22
K Pulli, K Karma, R Norio, P Sistonen, H H H Göring, and I Järvelä
J Med Genet 2008; 45: 451-456. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 18 April 2008. doi:10.1136/jmg.2007.056366

Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population
Y L Song, C N Wang, M W Fan, B Su, and Z Bian
J Med Genet 2008; 45: 457-464. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 2 May 2008. doi:10.1136/jmg.2007.056911

Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study
Z-B Jin, M Mandai, T Yokota, K Higuchi, K Ohmori, F Ohtsuki, S Takakura, T Itabashi, Y Wada, M Akimoto, S Ooto, T Suzuki, Y Hirami, H Ikeda, N Kawagoe, A Oishi, S Ichiyama, M Takahashi, N Yoshimura, and S Kosugi
J Med Genet 2008; 45: 465-472. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 29 February 2008. doi:10.1136/jmg.2007.056416

Mutation report

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
R Mineri, M Rimoldi, A B Burlina, S Koskull, C Perletti, B Heese, U von Döbeln, P Mereghetti, I Di Meo, F Invernizzi, M Zeviani, G Uziel, and V Tiranti
J Med Genet 2008; 45: 473-478. doi:10.1136/jmg.2008.058271 [Abstract] [Full text] [PDF] [Request Permissions]

PostScript

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan
H Kuniba, M Tsuda, M Nakashima, S Miura, N Miyake, T Kondoh, T Matsumoto, H Moriuchi, H Ohashi, K Kurosawa, H Tonoki, T Nagai, N Okamoto, M Kato, Y Fukushima, K Naritomi, N Matsumoto, A Kinoshita, K-i Yoshiura, and N Niikawa
J Med Genet 2008; 45: 479-480. doi:10.1136/jmg.2008.058503 [Extract] [Full text] [PDF] [Request Permissions]

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	Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders M Morleo and B Franco J Med Genet 2008; 45: 401-408. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 7 May 2008. doi:10.1136/jmg.2008.058305

	*Towards more effective and equitable genetic testing for BRCA1* and BRCA2 mutation carriers** John L Hopper, James G Dowty, Carmel Apicella, Melissa C Southey, Graham G Giles, and Ingrid Winship J Med Genet 2008; 45: 409-410. [Extract] [Full text] [PDF] [Request Permissions] Published Online First: 2 May 2008. doi:10.1136/jmg.2008.058057

	*Heterogeneity in the processing defect of SLC26A4* mutants** J S Yoon, H-J Park, S-Y Yoo, W Namkung, M J Jo, S K Koo, H-Y Park, W-S Lee, K H Kim, and M G Lee J Med Genet 2008; 45: 411-419. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 29 February 2008. doi:10.1136/jmg.2007.054635

	*Identification of a 2244 base pair interstitial deletion within the human ESR1* gene in the Spanish population** J Jorge Galan, B Buch, S Pedrinaci, P Jimenez-Gamiz, A Gonzalez, M Serrano-Rios, A Salinas, M del Carmen Rivero, L M Real, J L Royo, and A Ruiz J Med Genet 2008; 45: 420-424. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 18 April 2008. doi:10.1136/jmg.2007.056952

	*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** A C Antoniou, R Hardy, L Walker, D G Evans, A Shenton, R Eeles, S Shanley, G Pichert, L Izatt, S Rose, F Douglas, D Eccles, P J Morrison, J Scott, R L Zimmern, D F Easton, and P D P Pharoah J Med Genet 2008; 45: 425-431. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 April 2008. doi:10.1136/jmg.2007.056556

	Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes S Monfort, M Roselló, C Orellana, S Oltra, D Blesa, K Kok, I Ferrer, J C Cigudosa, and F Martínez J Med Genet 2008; 45: 432-437. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 15 April 2008. doi:10.1136/jmg.2008.057596

	*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** C Bonnet, S Krieger, M Vezain, A Rousselin, I Tournier, A Martins, P Berthet, A Chevrier, C Dugast, V Layet, A Rossi, R Lidereau, T Frébourg, A Hardouin, and M Tosi J Med Genet 2008; 45: 438-446. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 18 April 2008. doi:10.1136/jmg.2007.056895

	Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22 K Pulli, K Karma, R Norio, P Sistonen, H H H Göring, and I Järvelä J Med Genet 2008; 45: 451-456. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 18 April 2008. doi:10.1136/jmg.2007.056366

	Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population Y L Song, C N Wang, M W Fan, B Su, and Z Bian J Med Genet 2008; 45: 457-464. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 2 May 2008. doi:10.1136/jmg.2007.056911

	Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study Z-B Jin, M Mandai, T Yokota, K Higuchi, K Ohmori, F Ohtsuki, S Takakura, T Itabashi, Y Wada, M Akimoto, S Ooto, T Suzuki, Y Hirami, H Ikeda, N Kawagoe, A Oishi, S Ichiyama, M Takahashi, N Yoshimura, and S Kosugi J Med Genet 2008; 45: 465-472. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 29 February 2008. doi:10.1136/jmg.2007.056416

	*Identification of new mutations in the ETHE1* gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy** R Mineri, M Rimoldi, A B Burlina, S Koskull, C Perletti, B Heese, U von Döbeln, P Mereghetti, I Di Meo, F Invernizzi, M Zeviani, G Uziel, and V Tiranti J Med Genet 2008; 45: 473-478. doi:10.1136/jmg.2008.058271 [Abstract] [Full text] [PDF] [Request Permissions]