J Med Genet -- Table of Contents (43 [11])

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November 2006 (Volume 43, Number 11). [Index by author]

		Reviews Original articles Short reports Letters to JMG Online mutation reports

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Table of Contents (PDF)

To see an article, click its [Full Text] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstracts' button. To see one abstract at a time, click its [Abstract] link.

Reviews

The cardiofaciocutaneous syndrome
A Roberts, J Allanson, S K Jadico, M I Kavamura, J Noonan, J M Opitz, T Young, and G Neri
J Med Genet 2006; 43: 833-842. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2006. doi:10.1136/jmg.2006.042796

Original articles

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
M-L Jacquemont, D Sanlaville, R Redon, O Raoul, V Cormier-Daire, S Lyonnet, J Amiel, M Le Merrer, D Heron, M-C de Blois, M Prieur, M Vekemans, N P Carter, A Munnich, L Colleaux, and A Philippe
J Med Genet 2006; 43: 843-849. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 July 2006. doi:10.1136/jmg.2006.043166

The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children
H-H M Dahl, S E Tobin, Z Poulakis, F W Rickards, X Xu, L Gillam, J Williams, K Saunders, B Cone-Wesson, and M Wake
J Med Genet 2006; 43: 850-855. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 July 2006. doi:10.1136/jmg.2006.042051

Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies
S-M Karppinen, R B Barkardottir, K Backenhorn, T Sydenham, K Syrjäkoski, J Schleutker, T Ikonen, K Pylkäs, K Rapakko, H Erkko, G Johannesdottir, A-M Gerdes, M Thomassen, B A Agnarsson, M Grip, A Kallioniemi, J Kere, L A Aaltonen, A Arason, P Møller, T A Kruse, Å Borg, and R Winqvist
J Med Genet 2006; 43: 856-862. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2006. doi:10.1136/jmg.2006.041731

Short reports

A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer
C Cybulski, D Wokolorczyk, T Huzarski, T Byrski, J Gronwald, B Górski, T Debniak, B Masojc, A Jakubowska, B Gliniewicz, A Sikorski, M Stawicka, D Godlewski, Z Kwias, A Antczak, K Krajka, W Lauer, M Sosnowski, P Sikorska-Radek, K Bar, R Klijer, R Zdrojowy, B Malkiewicz, A Borkowski, T Borkowski, M Szwiec, S A Narod, and J Lubinski
J Med Genet 2006; 43: 863-866. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 31 October 2006. doi:10.1136/jmg.2006.044974

Letters to JMG

CDH1/E-cadherin germline mutations in early-onset gastric cancer
J T Bacani, M Soares, R Zwingerman, N di Nicola, J Senz, R Riddell, D G Huntsman, and S Gallinger
J Med Genet 2006; 43: 867-872. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions]
Published Online First: 26 June 2006. doi:10.1136/jmg.2006.043133

A genomewide scan for quantitative trait loci underlying areal bone size variation in 451 Caucasian families
H Shen, J-R Long, D-H Xiong, Y-F Guo, P Xiao, Y-Z Liu, L-J Zhao, Y-J Liu, H-Y Deng, J-L Li, R R Recker, and H-W Deng
J Med Genet 2006; 43: 873-880. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2006. doi:10.1136/jmg.2006.041251

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency
R Hinttala, R Smeets, J S Moilanen, C Ugalde, J Uusimaa, J A M Smeitink, and K Majamaa
J Med Genet 2006; 43: 881-886. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 31 May 2006. doi:10.1136/jmg.2006.042168

Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia
J L Seal, M C Gornick, N Gogtay, P Shaw, D K Greenstein, M Coffey, P A Gochman, T Stromberg, Z Chen, B Merriman, S F Nelson, J Brooks, S Arepalli, F Wavrant-De Vrièze, J Hardy, J L Rapoport, and A M Addington
J Med Genet 2006; 43: 887-892. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 June 2006. doi:10.1136/jmg.2006.043380

Polyalanine and polyserine frameshift products in Huntington’s disease
J E Davies and D C Rubinsztein
J Med Genet 2006; 43: 893-896. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 26 June 2006. doi:10.1136/jmg.2006.044222

Online mutation reports

Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C $->$ T mutation in the mitochondrial 12S rRNA gene
M Rodríguez-Ballesteros, M Olarte, L A Aguirre, F Galán, R Galán, L A Vallejo, C Navas, M Villamar, M A Moreno-Pelayo, F Moreno, and I del Castillo
J Med Genet 2006; 43: e54. doi:10.1136/jmg.2006.042440 [Abstract] [Full text] [PDF] [Request Permissions]

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II
E Aller, T Jaijo, M Beneyto, C Nájera, S Oltra, C Ayuso, M Baiget, M Carballo, G Antiñolo, D Valverde, F Moreno, C Vilela, D Collado, H Pérez-Garrigues, A Navea, and J M Millán
J Med Genet 2006; 43: e55. doi:10.1136/jmg.2006.041764 [Abstract] [Full text] [PDF] [Request Permissions]

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	The cardiofaciocutaneous syndrome A Roberts, J Allanson, S K Jadico, M I Kavamura, J Noonan, J M Opitz, T Young, and G Neri J Med Genet 2006; 43: 833-842. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2006. doi:10.1136/jmg.2006.042796

	Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders M-L Jacquemont, D Sanlaville, R Redon, O Raoul, V Cormier-Daire, S Lyonnet, J Amiel, M Le Merrer, D Heron, M-C de Blois, M Prieur, M Vekemans, N P Carter, A Munnich, L Colleaux, and A Philippe J Med Genet 2006; 43: 843-849. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 July 2006. doi:10.1136/jmg.2006.043166

	*The contribution of GJB2* mutations to slight or mild hearing loss in Australian elementary school children** H-H M Dahl, S E Tobin, Z Poulakis, F W Rickards, X Xu, L Gillam, J Williams, K Saunders, B Cone-Wesson, and M Wake J Med Genet 2006; 43: 850-855. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 July 2006. doi:10.1136/jmg.2006.042051

	*Nordic collaborative study of the BARD1* Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies** S-M Karppinen, R B Barkardottir, K Backenhorn, T Sydenham, K Syrjäkoski, J Schleutker, T Ikonen, K Pylkäs, K Rapakko, H Erkko, G Johannesdottir, A-M Gerdes, M Thomassen, B A Agnarsson, M Grip, A Kallioniemi, J Kere, L A Aaltonen, A Arason, P Møller, T A Kruse, Å Borg, and R Winqvist J Med Genet 2006; 43: 856-862. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2006. doi:10.1136/jmg.2006.041731

	CDH1/E-cadherin germline mutations in early-onset gastric cancer J T Bacani, M Soares, R Zwingerman, N di Nicola, J Senz, R Riddell, D G Huntsman, and S Gallinger J Med Genet 2006; 43: 867-872. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions] Published Online First: 26 June 2006. doi:10.1136/jmg.2006.043133

	A genomewide scan for quantitative trait loci underlying areal bone size variation in 451 Caucasian families H Shen, J-R Long, D-H Xiong, Y-F Guo, P Xiao, Y-Z Liu, L-J Zhao, Y-J Liu, H-Y Deng, J-L Li, R R Recker, and H-W Deng J Med Genet 2006; 43: 873-880. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2006. doi:10.1136/jmg.2006.041251

	Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency R Hinttala, R Smeets, J S Moilanen, C Ugalde, J Uusimaa, J A M Smeitink, and K Majamaa J Med Genet 2006; 43: 881-886. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 31 May 2006. doi:10.1136/jmg.2006.042168

	Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia J L Seal, M C Gornick, N Gogtay, P Shaw, D K Greenstein, M Coffey, P A Gochman, T Stromberg, Z Chen, B Merriman, S F Nelson, J Brooks, S Arepalli, F Wavrant-De Vrièze, J Hardy, J L Rapoport, and A M Addington J Med Genet 2006; 43: 887-892. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 June 2006. doi:10.1136/jmg.2006.043380

	Polyalanine and polyserine frameshift products in Huntington’s disease J E Davies and D C Rubinsztein J Med Genet 2006; 43: 893-896. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 26 June 2006. doi:10.1136/jmg.2006.044222

	Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C $->$ T mutation in the mitochondrial 12S rRNA gene M Rodríguez-Ballesteros, M Olarte, L A Aguirre, F Galán, R Galán, L A Vallejo, C Navas, M Villamar, M A Moreno-Pelayo, F Moreno, and I del Castillo J Med Genet 2006; 43: e54. doi:10.1136/jmg.2006.042440 [Abstract] [Full text] [PDF] [Request Permissions]

	Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II E Aller, T Jaijo, M Beneyto, C Nájera, S Oltra, C Ayuso, M Baiget, M Carballo, G Antiñolo, D Valverde, F Moreno, C Vilela, D Collado, H Pérez-Garrigues, A Navea, and J M Millán J Med Genet 2006; 43: e55. doi:10.1136/jmg.2006.041764 [Abstract] [Full text] [PDF] [Request Permissions]