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October 2005 (Volume 42, Number 10). [Index by author]

		Reviews Original articles Short reports Letters to JMG Electronic letters Online mutation reports

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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

Splicing in action: assessing disease causing sequence changes
D Baralle and M Baralle
J Med Genet 2005; 42: 737-748. doi:10.1136/jmg.2004.029538 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians
L Wideroff, S T Vadaparampil, M H Greene, S Taplin, L Olson, and A N Freedman
J Med Genet 2005; 42: 749-755. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 22 March 2005. doi:10.1136/jmg.2004.030296

Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families
V Johnson, L R Lipton, C Cummings, A T Eftekhar Sadat, L Izatt, S V Hodgson, I C Talbot, H J W Thomas, A J R Silver, and I P M Tomlinson
J Med Genet 2005; 42: 756-762. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 23 March 2005. doi:10.1136/jmg.2005.031245

A common variant of CDKN2A (p16) predisposes to breast cancer
T Debniak, B Górski, T Huzarski, T Byrski, C Cybulski, A Mackiewicz, S Gozdecka-Grodecka, J Gronwald, E Kowalska, O Haus, E Grzybowska, M Stawicka, M Swiec, K Urbanski, S Niepsuj, B Wasko, S Gózdz, P Wandzel, C Szczylik, D Surdyka, A Rozmiarek, O Zambrano, M Posmyk, S A Narod, and J Lubinski
J Med Genet 2005; 42: 763-765. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 May 2005. doi:10.1136/jmg.2005.031476

Short reports

The HNPCC associated MSH2*1906G $->$ C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population
S Sun, C M T Greenwood, I Thiffault, N Hamel, G Chong, and W D Foulkes
J Med Genet 2005; 42: 766-768. doi:10.1136/jmg.2005.030999 [Abstract] [Full text] [PDF] [Request Permissions]

The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC)
S Krüger, A Bier, C Engel, E Mangold, C Pagenstecher, M von Knebel Doeberitz, E Holinski-Feder, G Moeslein, K Schulmann, J Plaschke, J Rüschoff, H K Schackert, the German HNPCC Consortium
J Med Genet 2005; 42: 769-773. doi:10.1136/jmg.2004.028506 [Abstract] [Full text] [PDF] [Request Permissions]

Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not
C Otten, R Wagener, M Paulsson, and F Zaucke
J Med Genet 2005; 42: 774-779. doi:10.1136/jmg.2004.029462 [Abstract] [Full text] [Web-only figures] [PDF] [Request Permissions]

Letters to JMG

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
F Laumonnier, S Holbert, N Ronce, F Faravelli, S Lenzner, C E Schwartz, J Lespinasse, H Van Esch, D Lacombe, C Goizet, F Phan-Dinh Tuy, H van Bokhoven, J-P Fryns, J Chelly, H-H Ropers, C Moraine, B C J Hamel, and S Briault
J Med Genet 2005; 42: 780-786. doi:10.1136/jmg.2004.029439 [Abstract] [Full text] [PDF] [Request Permissions]

Interaction between the ${alpha}$ -T catenin gene (VR22) and APOE in Alzheimer’s disease
E R Martin, P G Bronson, Y-J Li, N Wall, R-H Chung, D E Schmechel, G Small, P-T Xu, J Bartlett, N Schnetz-Boutaud, J L Haines, J R Gilbert, and M A Pericak-Vance
J Med Genet 2005; 42: 787-792. doi:10.1136/jmg.2004.029553 [Abstract] [Full text] [PDF] [Request Permissions]

Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update
G Raux, L Guyant-Maréchal, C Martin, J Bou, C Penet, A Brice, D Hannequin, T Frebourg, and D Campion
J Med Genet 2005; 42: 793-795. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 July 2005. doi:10.1136/jmg.2005.033456

The oestrogen receptor ${alpha}$ gene is linked and/or associated with age of menarche in different ethnic groups
J-R Long, H Xu, L-J Zhao, P-Y Liu, H Shen, Y-J Liu, D-H Xiong, P Xiao, Y-Z Liu, V Dvornyk, J-L Li, R R Recker, and H-W Deng
J Med Genet 2005; 42: 796-800. doi:10.1136/jmg.2004.028381 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling
J Ingles, A Doolan, C Chiu, J Seidman, C Seidman, and C Semsarian
J Med Genet 2005; 42: e59. doi:10.1136/jmg.2005.033886 [Abstract] [Full text] [PDF] [Request Permissions]

Phenylketonuria screening registry as a resource for population genetic studies
U Hannelius, C M Lindgren, E Melén, A Malmberg, U von Dobeln, and J Kere
J Med Genet 2005; 42: e60. doi:10.1136/jmg.2005.032987 [Abstract] [Full text] [PDF] [Request Permissions]

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus
W Chen, K Kahrizi, N C Meyer, Y Riazalhosseini, G Van Camp, H Najmabadi, and R J H Smith
J Med Genet 2005; 42: e61. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 July 2005. doi:10.1136/jmg.2005.032615

Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases
M Verlaan, J P H Drenth, K Truninger, M Koudova, H-U Schulz, M Bargetzi, B Künzli, H Friess, M Cerny, A Kage, O Landt, R H M te Morsche, J Rosendahl, W Luck, R Nickel, J Halangk, M Becker, M Macek, Jr, J B M J Jansen, and H Witt
J Med Genet 2005; 42: e62. doi:10.1136/jmg.2005.032599 [Abstract] [Full text] [PDF] [Request Permissions]

Online mutation reports

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
C Bergmann, F Küpper, C P Schmitt, U Vester, T J Neuhaus, J Senderek, and K Zerres
J Med Genet 2005; 42: e63. doi:10.1136/jmg.2005.032318 [Abstract] [Full text] [Web-only tables] [PDF] [Request Permissions]

Large genomic deletions inactivate the BRCA2 gene in breast cancer families
S Agata, M Dalla Palma, M Callegaro, M C Scaini, C Menin, C Ghiotto, O Nicoletto, G Zavagno, L Chieco-Bianchi, E D’Andrea, and M Montagna
J Med Genet 2005; 42: e64. doi:10.1136/jmg.2005.032789 [Abstract] [Full text] [PDF] [Request Permissions]

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	Splicing in action: assessing disease causing sequence changes D Baralle and M Baralle J Med Genet 2005; 42: 737-748. doi:10.1136/jmg.2004.029538 [Abstract] [Full text] [PDF] [Request Permissions]

	Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians L Wideroff, S T Vadaparampil, M H Greene, S Taplin, L Olson, and A N Freedman J Med Genet 2005; 42: 749-755. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 22 March 2005. doi:10.1136/jmg.2004.030296

	Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families V Johnson, L R Lipton, C Cummings, A T Eftekhar Sadat, L Izatt, S V Hodgson, I C Talbot, H J W Thomas, A J R Silver, and I P M Tomlinson J Med Genet 2005; 42: 756-762. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 23 March 2005. doi:10.1136/jmg.2005.031245

	A common variant of CDKN2A (p16) predisposes to breast cancer T Debniak, B Górski, T Huzarski, T Byrski, C Cybulski, A Mackiewicz, S Gozdecka-Grodecka, J Gronwald, E Kowalska, O Haus, E Grzybowska, M Stawicka, M Swiec, K Urbanski, S Niepsuj, B Wasko, S Gózdz, P Wandzel, C Szczylik, D Surdyka, A Rozmiarek, O Zambrano, M Posmyk, S A Narod, and J Lubinski J Med Genet 2005; 42: 763-765. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 May 2005. doi:10.1136/jmg.2005.031476

	*The HNPCC associated MSH21906G $->$ C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population** S Sun, C M T Greenwood, I Thiffault, N Hamel, G Chong, and W D Foulkes J Med Genet 2005; 42: 766-768. doi:10.1136/jmg.2005.030999 [Abstract] [Full text] [PDF] [Request Permissions]

	*The p53* codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC)** S Krüger, A Bier, C Engel, E Mangold, C Pagenstecher, M von Knebel Doeberitz, E Holinski-Feder, G Moeslein, K Schulmann, J Plaschke, J Rüschoff, H K Schackert, the German HNPCC Consortium J Med Genet 2005; 42: 769-773. doi:10.1136/jmg.2004.028506 [Abstract] [Full text] [PDF] [Request Permissions]

	Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not C Otten, R Wagener, M Paulsson, and F Zaucke J Med Genet 2005; 42: 774-779. doi:10.1136/jmg.2004.029462 [Abstract] [Full text] [Web-only figures] [PDF] [Request Permissions]

	*Mutations in PHF8* are associated with X linked mental retardation and cleft lip/cleft palate** F Laumonnier, S Holbert, N Ronce, F Faravelli, S Lenzner, C E Schwartz, J Lespinasse, H Van Esch, D Lacombe, C Goizet, F Phan-Dinh Tuy, H van Bokhoven, J-P Fryns, J Chelly, H-H Ropers, C Moraine, B C J Hamel, and S Briault J Med Genet 2005; 42: 780-786. doi:10.1136/jmg.2004.029439 [Abstract] [Full text] [PDF] [Request Permissions]

	Interaction between the ${alpha}$ -T catenin gene (VR22) and APOE in Alzheimer’s disease E R Martin, P G Bronson, Y-J Li, N Wall, R-H Chung, D E Schmechel, G Small, P-T Xu, J Bartlett, N Schnetz-Boutaud, J L Haines, J R Gilbert, and M A Pericak-Vance J Med Genet 2005; 42: 787-792. doi:10.1136/jmg.2004.029553 [Abstract] [Full text] [PDF] [Request Permissions]

	Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update G Raux, L Guyant-Maréchal, C Martin, J Bou, C Penet, A Brice, D Hannequin, T Frebourg, and D Campion J Med Genet 2005; 42: 793-795. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 20 July 2005. doi:10.1136/jmg.2005.033456

	The oestrogen receptor ${alpha}$ gene is linked and/or associated with age of menarche in different ethnic groups J-R Long, H Xu, L-J Zhao, P-Y Liu, H Shen, Y-J Liu, D-H Xiong, P Xiao, Y-Z Liu, V Dvornyk, J-L Li, R R Recker, and H-W Deng J Med Genet 2005; 42: 796-800. doi:10.1136/jmg.2004.028381 [Extract] [Full text] [PDF] [Request Permissions]

	Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling J Ingles, A Doolan, C Chiu, J Seidman, C Seidman, and C Semsarian J Med Genet 2005; 42: e59. doi:10.1136/jmg.2005.033886 [Abstract] [Full text] [PDF] [Request Permissions]

	Phenylketonuria screening registry as a resource for population genetic studies U Hannelius, C M Lindgren, E Melén, A Malmberg, U von Dobeln, and J Kere J Med Genet 2005; 42: e60. doi:10.1136/jmg.2005.032987 [Abstract] [Full text] [PDF] [Request Permissions]

	*Mutation of COL11A2* causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus** W Chen, K Kahrizi, N C Meyer, Y Riazalhosseini, G Van Camp, H Najmabadi, and R J H Smith J Med Genet 2005; 42: e61. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 20 July 2005. doi:10.1136/jmg.2005.032615

	*Polymorphisms of UDP-glucuronosyltransferase 1A7* are not involved in pancreatic diseases** M Verlaan, J P H Drenth, K Truninger, M Koudova, H-U Schulz, M Bargetzi, B Künzli, H Friess, M Cerny, A Kage, O Landt, R H M te Morsche, J Rosendahl, W Luck, R Nickel, J Halangk, M Becker, M Macek, Jr, J B M J Jansen, and H Witt J Med Genet 2005; 42: e62. doi:10.1136/jmg.2005.032599 [Abstract] [Full text] [PDF] [Request Permissions]

	*Multi-exon deletions of the PKHD1* gene cause autosomal recessive polycystic kidney disease (ARPKD)** C Bergmann, F Küpper, C P Schmitt, U Vester, T J Neuhaus, J Senderek, and K Zerres J Med Genet 2005; 42: e63. doi:10.1136/jmg.2005.032318 [Abstract] [Full text] [Web-only tables] [PDF] [Request Permissions]

	Large genomic deletions inactivate the BRCA2 gene in breast cancer families S Agata, M Dalla Palma, M Callegaro, M C Scaini, C Menin, C Ghiotto, O Nicoletto, G Zavagno, L Chieco-Bianchi, E D’Andrea, and M Montagna J Med Genet 2005; 42: e64. doi:10.1136/jmg.2005.032789 [Abstract] [Full text] [PDF] [Request Permissions]