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November 2005 (Volume 42, Number 11). [Index by author]

		Reviews Original articles Short reports Letters to JMG Book reviews Echoes Corrections Electronic letters Online mutation reports

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Reviews

The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis
A J Bauer and C A Stratakis
J Med Genet 2005; 42: 801-810. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 June 2005. doi:10.1136/jmg.2003.017806

Genetics of skin appendage neoplasms and related syndromes
D A Lee, M E Grossman, P Schneiderman, and J T Celebi
J Med Genet 2005; 42: 811-819. doi:10.1136/jmg.2004.025577 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions
S Girirajan, L J Elsas, II, K Devriendt, and S H Elsea
J Med Genet 2005; 42: 820-828. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 23 March 2005. doi:10.1136/jmg.2005.031211

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero
R Froissart, D Cheillan, R Bouvier, S Tourret, V Bonnet, M Piraud, and I Maire
J Med Genet 2005; 42: 829-836. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 1 April 2005. doi:10.1136/jmg.2004.029744

Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration
A M Pittman, A J Myers, P Abou-Sleiman, H C Fung, M Kaleem, L Marlowe, J Duckworth, D Leung, D Williams, L Kilford, N Thomas, C M Morris, D Dickson, N W Wood, J Hardy, A J Lees, and R de Silva
J Med Genet 2005; 42: 837-846. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 25 March 2005. doi:10.1136/jmg.2005.031377

Global analysis of uniparental disomy using high density genotyping arrays
S Bruce, R Leinonen, C M Lindgren, K Kivinen, K Dahlman-Wright, M Lipsanen-Nyman, K Hannula-Jouppi, and J Kere
J Med Genet 2005; 42: 847-851. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 May 2005. doi:10.1136/jmg.2005.032367

Short reports

The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts
V Fremeaux-Bacchi, E J Kemp, J A Goodship, M-A Dragon-Durey, L Strain, C Loirat, H-W Deng, and T H J Goodship
J Med Genet 2005; 42: 852-856. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 22 March 2005. doi:10.1136/jmg.2005.030783

Further evidence for LBP-1c/CP2/LSF association in Alzheimer’s disease families
L Bertram, M Parkinson, M B McQueen, K Mullin, M Hsiao, R Menon, T J Moscarillo, D Blacker, and R E Tanzi
J Med Genet 2005; 42: 857-862. doi:10.1136/jmg.2004.024596 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients
A V Postma, I Denjoy, J Kamblock, M Alders, J-M Lupoglazoff, G Vaksmann, L Dubosq-Bidot, P Sebillon, M M A M Mannens, P Guicheney, and A A M Wilde
J Med Genet 2005; 42: 863-870. doi:10.1136/jmg.2004.028993 [Abstract] [Full text] [PDF] [Request Permissions]

Systematic assessment of atypical deletions reveals genotype–phenotype correlation in 22q11.2
A Rauch, S Zink, C Zweier, C T Thiel, A Koch, R Rauch, J Lascorz, U Hüffmeier, M Weyand, H Singer, and M Hofbeck
J Med Genet 2005; 42: 871-876. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 April 2005. doi:10.1136/jmg.2004.030619

High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer
M Kristiansen, G P S Knudsen, P Maguire, S Margolin, J Pedersen, A Lindblom, and K H Ørstavik
J Med Genet 2005; 42: 877-880. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 May 2005. doi:10.1136/jmg.2005.032433

Book reviews

Genetics for Pediatricians
Emma McCann
J Med Genet 2005; 42: 876. doi:10.1136/jmg.2005.033282 [Extract] [Full text] [PDF] [Request Permissions]

Medical genetics
W Reardon
J Med Genet 2005; 42: 880. doi:10.1136/jmg.2005.034645 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

Young patients with colorectal cancer are genetically susceptible
J Med Genet 2005; 42: 828. [Extract] [Full text] [PDF] [Request Permissions]

Corrections

CORRECTION
J Med Genet 2005; 42: 862. doi:10.1136/jmg.2005.26138corr1 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor
S Goldwurm, A Di Fonzo, E J Simons, C F Rohé, M Zini, M Canesi, S Tesei, A Zecchinelli, A Antonini, C Mariani, N Meucci, G Sacilotto, F Sironi, G Salani, J Ferreira, H F Chien, E Fabrizio, N Vanacore, A Dalla Libera, F Stocchi, C Diroma, P Lamberti, C Sampaio, G Meco, E Barbosa, A M Bertoli-Avella, G J Breedveld, B A Oostra, G Pezzoli, and V Bonifati
J Med Genet 2005; 42: e65. doi:10.1136/jmg.2005.035568 [Abstract] [Full text] [PDF] [Request Permissions]

Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions
R Visser, O Shimokawa, N Harada, N Niikawa, and N Matsumoto
J Med Genet 2005; 42: e66. doi:10.1136/jmg.2005.034355 [Abstract] [Full text] [PDF] [Request Permissions]

Online mutation reports

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
J C Booij, R J Florijn, J B ten Brink, W Loves, F Meire, M J van Schooneveld, P TVM de Jong, and A A B Bergen
J Med Genet 2005; 42: e67. doi:10.1136/jmg.2005.035121 [Abstract] [Full text] [PDF] [Request Permissions]

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	The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis A J Bauer and C A Stratakis J Med Genet 2005; 42: 801-810. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 June 2005. doi:10.1136/jmg.2003.017806

	Genetics of skin appendage neoplasms and related syndromes D A Lee, M E Grossman, P Schneiderman, and J T Celebi J Med Genet 2005; 42: 811-819. doi:10.1136/jmg.2004.025577 [Abstract] [Full text] [PDF] [Request Permissions]

	RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions S Girirajan, L J Elsas, II, K Devriendt, and S H Elsea J Med Genet 2005; 42: 820-828. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 23 March 2005. doi:10.1136/jmg.2005.031211

	Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero R Froissart, D Cheillan, R Bouvier, S Tourret, V Bonnet, M Piraud, and I Maire J Med Genet 2005; 42: 829-836. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 1 April 2005. doi:10.1136/jmg.2004.029744

	*Linkage disequilibrium fine mapping and haplotype association analysis of the tau* gene in progressive supranuclear palsy and corticobasal degeneration** A M Pittman, A J Myers, P Abou-Sleiman, H C Fung, M Kaleem, L Marlowe, J Duckworth, D Leung, D Williams, L Kilford, N Thomas, C M Morris, D Dickson, N W Wood, J Hardy, A J Lees, and R de Silva J Med Genet 2005; 42: 837-846. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 25 March 2005. doi:10.1136/jmg.2005.031377

	Global analysis of uniparental disomy using high density genotyping arrays S Bruce, R Leinonen, C M Lindgren, K Kivinen, K Dahlman-Wright, M Lipsanen-Nyman, K Hannula-Jouppi, and J Kere J Med Genet 2005; 42: 847-851. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 May 2005. doi:10.1136/jmg.2005.032367

	The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts V Fremeaux-Bacchi, E J Kemp, J A Goodship, M-A Dragon-Durey, L Strain, C Loirat, H-W Deng, and T H J Goodship J Med Genet 2005; 42: 852-856. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 22 March 2005. doi:10.1136/jmg.2005.030783

	*Further evidence for LBP-1c/CP2/LSF* association in Alzheimer’s disease families** L Bertram, M Parkinson, M B McQueen, K Mullin, M Hsiao, R Menon, T J Moscarillo, D Blacker, and R E Tanzi J Med Genet 2005; 42: 857-862. doi:10.1136/jmg.2004.024596 [Abstract] [Full text] [PDF] [Request Permissions]

	Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients A V Postma, I Denjoy, J Kamblock, M Alders, J-M Lupoglazoff, G Vaksmann, L Dubosq-Bidot, P Sebillon, M M A M Mannens, P Guicheney, and A A M Wilde J Med Genet 2005; 42: 863-870. doi:10.1136/jmg.2004.028993 [Abstract] [Full text] [PDF] [Request Permissions]

	Systematic assessment of atypical deletions reveals genotype–phenotype correlation in 22q11.2 A Rauch, S Zink, C Zweier, C T Thiel, A Koch, R Rauch, J Lascorz, U Hüffmeier, M Weyand, H Singer, and M Hofbeck J Med Genet 2005; 42: 871-876. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 April 2005. doi:10.1136/jmg.2004.030619

	*High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2* breast cancer** M Kristiansen, G P S Knudsen, P Maguire, S Margolin, J Pedersen, A Lindblom, and K H Ørstavik J Med Genet 2005; 42: 877-880. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 May 2005. doi:10.1136/jmg.2005.032433

	Genetics for Pediatricians Emma McCann J Med Genet 2005; 42: 876. doi:10.1136/jmg.2005.033282 [Extract] [Full text] [PDF] [Request Permissions]

	Medical genetics W Reardon J Med Genet 2005; 42: 880. doi:10.1136/jmg.2005.034645 [Extract] [Full text] [PDF] [Request Permissions]

	Young patients with colorectal cancer are genetically susceptible J Med Genet 2005; 42: 828. [Extract] [Full text] [PDF] [Request Permissions]

	CORRECTION J Med Genet 2005; 42: 862. doi:10.1136/jmg.2005.26138corr1 [Extract] [Full text] [PDF] [Request Permissions]

	*The G6055A (G2019S) mutation in LRRK2* is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor** S Goldwurm, A Di Fonzo, E J Simons, C F Rohé, M Zini, M Canesi, S Tesei, A Zecchinelli, A Antonini, C Mariani, N Meucci, G Sacilotto, F Sironi, G Salani, J Ferreira, H F Chien, E Fabrizio, N Vanacore, A Dalla Libera, F Stocchi, C Diroma, P Lamberti, C Sampaio, G Meco, E Barbosa, A M Bertoli-Avella, G J Breedveld, B A Oostra, G Pezzoli, and V Bonifati J Med Genet 2005; 42: e65. doi:10.1136/jmg.2005.035568 [Abstract] [Full text] [PDF] [Request Permissions]

	Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions R Visser, O Shimokawa, N Harada, N Niikawa, and N Matsumoto J Med Genet 2005; 42: e66. doi:10.1136/jmg.2005.034355 [Abstract] [Full text] [PDF] [Request Permissions]

	*Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1* genes in patients with juvenile retinitis pigmentosa** J C Booij, R J Florijn, J B ten Brink, W Loves, F Meire, M J van Schooneveld, P TVM de Jong, and A A B Bergen J Med Genet 2005; 42: e67. doi:10.1136/jmg.2005.035121 [Abstract] [Full text] [PDF] [Request Permissions]