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January 2007 (Volume 44, Number 1). [Index by author]

		Reviews Original articles Short reports Letters to JMG Correspondence Electronic letters

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Reviews

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
Blanche P Alter, Philip S Rosenberg, and Lawrence C Brody
J Med Genet 2007; 44: 1-9. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2006. doi:10.1136/jmg.2006.043257

Original articles

Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening
A Smith, A Moran, M C Boyd, M Bulman, A Shenton, L Smith, R Iddenden, E R Woodward, F Lalloo, E R Maher, and D G R Evans
J Med Genet 2007; 44: 10-15. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 1 November 2006. doi:10.1136/jmg.2006.043091

IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease
Cheng-Lung Ku, Capucine Picard, Melinda Erdös, Axel Jeurissen, Jacinta Bustamante, Anne Puel, Horst von Bernuth, Orchidée Filipe-Santos, Huey-Hsuan Chang, Tatiana Lawrence, Marc Raes, László Maródi, Xavier Bossuyt, and Jean-Laurent Casanova
J Med Genet 2007; 44: 16-23. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 1 September 2006. doi:10.1136/jmg.2006.044446

Genomewide scans of red cell indices suggest linkage on chromosome 6q23
A Iliadou, D M Evans, G Zhu, D L Duffy, I H Frazer, G W Montgomery, and N G Martin
J Med Genet 2007; 44: 24-30. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 1 September 2006. doi:10.1136/jmg.2006.043521

Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region
C Diatloff-Zito, A Nicole, G Marcelin, H Labit, E Marquis, C Bellanné-Chantelot, and J J Robert
J Med Genet 2007; 44: 31-37. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 September 2006. doi:10.1136/jmg.2006.044404

Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations
M Fanin, A C Nascimbeni, and C Angelini
J Med Genet 2007; 44: 38-43. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 September 2006. doi:10.1136/jmg.2006.044859

Replication of twelve association studies for Huntington’s disease residual age of onset in large Venezuelan kindreds
J M Andresen, J Gayán, S S Cherny, D Brocklebank, G Alkorta-Aranburu, E A Addis, The US-Venezuela Collaborative Research Group, L R Cardon, D E Housman, and N S Wexler
J Med Genet 2007; 44: 44-50. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 3 October 2006. doi:10.1136/jmg.2006.045153

Ultra-high resolution array painting facilitates breakpoint sequencing
S M Gribble, D Kalaitzopoulos, D C Burford, E Prigmore, R R Selzer, B L Ng, N S W Matthews, K M Porter, R Curley, S J Lindsay, J Baptista, T A Richmond, and N P Carter
J Med Genet 2007; 44: 51-58. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 September 2006. doi:10.1136/jmg.2006.044909

Short reports

The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome
Nadine Schönherr, Esther Meyer, Andreas Roos, Angela Schmidt, Hartmut A Wollmann, and Thomas Eggermann
J Med Genet 2007; 44: 59-63. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 September 2006. doi:10.1136/jmg.2006.044370

Letters to JMG

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11
Xiaodong Jiao, Afia Sultana, Prashant Garg, Balasubramanya Ramamurthy, Geeta K Vemuganti, Nibaran Gangopadhyay, J Fielding Hejtmancik, and Chitra Kannabiran
J Med Genet 2007; 44: 64-68. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2006. doi:10.1136/jmg.2006.044644

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A $->$ G mtDNA mutation
Angela Pyle, Robert W Taylor, Steve E Durham, Marcus Deschauer, Andrew M Schaefer, David C Samuels, and Patrick F Chinnery
J Med Genet 2007; 44: 69-74. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 1 September 2006. doi:10.1136/jmg.2006.043109

Tumour selection advantage of non-dominant negative P53 mutations in homozygotic MDM2-SNP309 colorectal cancer cells
Hafid Alazzouzi, Gianpaolo Suriano, Angel Guerra, Alberto Plaja, Eloi Espín, Manel Armengol, Pia Alhopuro, Sergia Velho, Yasuhisa Shinomura, Juan José González-Aguilera, Hiroyuki Yamamoto, Lauri A Aaltonen, Víctor Moreno, Gabriel Capellà, Miguel Angel Peinado, Raquel Seruca, Diego Arango, and Simó Schwartz, Jr
J Med Genet 2007; 44: 75-80. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2006. doi:10.1136/jmg.2006.042572

Correspondence

Mutations in PLA2G6 and the riddle of Schindler disease
S K Westaway, A Gregory, and S J Hayflick
J Med Genet 2007; 44: e64. doi:10.1136/jmg.2006.044966 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes
Jennifer J Johnston, Robert L Walker, Sean Davis, Flavia Facio, Joyce T Turner, David P Bick, Donna L Daentl, Jay W Ellison, Paul S Meltzer, and Leslie G Biesecker
J Med Genet 2007; 44: e59. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 10 November 2006. doi:10.1136/jmg.2006.042473

13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients
Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, Stefania Gimelli, Paola Maraschio, Palma Finelli, Sabrina Giglio, Elisabetta Lapi, Maria Francesca Bedeschi, Silvana Guerneri, Giulia Arrigo, Maria Grazia Patricelli, Teresa Mattina, Oriana Guzzardi, Vanna Pecile, Adalgisa Police, Gioacchino Scarano, Lidia Larizza, Orsetta Zuffardi, and Daniela Giardino
J Med Genet 2007; 44: e60. doi:10.1136/jmg.2006.043059 [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]

Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1
Douglas R Stewart, Christopher L Corless, Brian P Rubin, Michael C Heinrich, Ludwine M Messiaen, Lisa J Kessler, Paul J Zhang, and David G Brooks
J Med Genet 2007; 44: e61. doi:10.1136/jmg.2006.043075 [Abstract] [Full text] [PDF] [Request Permissions]

Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women
Bermseok Oh, Shin-Yoon Kim, Duk Jae Kim, Jong Yong Lee, Jong-Keuk Lee, Kuchan Kimm, Byung Lae Park, Hyoung Doo Shin, Tae-Ho Kim, Eui Kyun Park, Jung-Min Koh, and Ghi Su Kim
J Med Genet 2007; 44: e62. doi:10.1136/jmg.2006.042259 [Abstract] [Full text] [web only figure and tables] [PDF] [Request Permissions]

Is ${alpha}$ -T catenin (VR22) an Alzheimer’s disease risk gene?
Lars Bertram, Kristina Mullin, Michele Parkinson, Monica Hsiao, Thomas J Moscarillo, Steven L Wagner, K David Becker, Gonul Velicelebi, Deborah Blacker, and Rudolph E Tanzi
J Med Genet 2007; 44: e63. doi:10.1136/jmg.2005.039263 [Abstract] [Full text] [PDF] [Request Permissions]

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	Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2 Blanche P Alter, Philip S Rosenberg, and Lawrence C Brody J Med Genet 2007; 44: 1-9. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2006. doi:10.1136/jmg.2006.043257

	Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening A Smith, A Moran, M C Boyd, M Bulman, A Shenton, L Smith, R Iddenden, E R Woodward, F Lalloo, E R Maher, and D G R Evans J Med Genet 2007; 44: 10-15. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 1 November 2006. doi:10.1136/jmg.2006.043091

	IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease Cheng-Lung Ku, Capucine Picard, Melinda Erdös, Axel Jeurissen, Jacinta Bustamante, Anne Puel, Horst von Bernuth, Orchidée Filipe-Santos, Huey-Hsuan Chang, Tatiana Lawrence, Marc Raes, László Maródi, Xavier Bossuyt, and Jean-Laurent Casanova J Med Genet 2007; 44: 16-23. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 1 September 2006. doi:10.1136/jmg.2006.044446

	Genomewide scans of red cell indices suggest linkage on chromosome 6q23 A Iliadou, D M Evans, G Zhu, D L Duffy, I H Frazer, G W Montgomery, and N G Martin J Med Genet 2007; 44: 24-30. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 1 September 2006. doi:10.1136/jmg.2006.043521

	Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region C Diatloff-Zito, A Nicole, G Marcelin, H Labit, E Marquis, C Bellanné-Chantelot, and J J Robert J Med Genet 2007; 44: 31-37. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 September 2006. doi:10.1136/jmg.2006.044404

	*Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3* gene mutations** M Fanin, A C Nascimbeni, and C Angelini J Med Genet 2007; 44: 38-43. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 September 2006. doi:10.1136/jmg.2006.044859

	Replication of twelve association studies for Huntington’s disease residual age of onset in large Venezuelan kindreds J M Andresen, J Gayán, S S Cherny, D Brocklebank, G Alkorta-Aranburu, E A Addis, The US-Venezuela Collaborative Research Group, L R Cardon, D E Housman, and N S Wexler J Med Genet 2007; 44: 44-50. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 3 October 2006. doi:10.1136/jmg.2006.045153

	Ultra-high resolution array painting facilitates breakpoint sequencing S M Gribble, D Kalaitzopoulos, D C Burford, E Prigmore, R R Selzer, B L Ng, N S W Matthews, K M Porter, R Curley, S J Lindsay, J Baptista, T A Richmond, and N P Carter J Med Genet 2007; 44: 51-58. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 September 2006. doi:10.1136/jmg.2006.044909

	The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome Nadine Schönherr, Esther Meyer, Andreas Roos, Angela Schmidt, Hartmut A Wollmann, and Thomas Eggermann J Med Genet 2007; 44: 59-63. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 September 2006. doi:10.1136/jmg.2006.044370

	Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11 Xiaodong Jiao, Afia Sultana, Prashant Garg, Balasubramanya Ramamurthy, Geeta K Vemuganti, Nibaran Gangopadhyay, J Fielding Hejtmancik, and Chitra Kannabiran J Med Genet 2007; 44: 64-68. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2006. doi:10.1136/jmg.2006.044644

	Depletion of mitochondrial DNA in leucocytes harbouring the 3243A $->$ G mtDNA mutation Angela Pyle, Robert W Taylor, Steve E Durham, Marcus Deschauer, Andrew M Schaefer, David C Samuels, and Patrick F Chinnery J Med Genet 2007; 44: 69-74. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 1 September 2006. doi:10.1136/jmg.2006.043109

	*Tumour selection advantage of non-dominant negative P53* mutations in homozygotic MDM2-SNP309 colorectal cancer cells** Hafid Alazzouzi, Gianpaolo Suriano, Angel Guerra, Alberto Plaja, Eloi Espín, Manel Armengol, Pia Alhopuro, Sergia Velho, Yasuhisa Shinomura, Juan José González-Aguilera, Hiroyuki Yamamoto, Lauri A Aaltonen, Víctor Moreno, Gabriel Capellà, Miguel Angel Peinado, Raquel Seruca, Diego Arango, and Simó Schwartz, Jr J Med Genet 2007; 44: 75-80. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2006. doi:10.1136/jmg.2006.042572

	*Mutations in PLA2G6* and the riddle of Schindler disease** S K Westaway, A Gregory, and S J Hayflick J Med Genet 2007; 44: e64. doi:10.1136/jmg.2006.044966 [Extract] [Full text] [PDF] [Request Permissions]

	Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes Jennifer J Johnston, Robert L Walker, Sean Davis, Flavia Facio, Joyce T Turner, David P Bick, Donna L Daentl, Jay W Ellison, Paul S Meltzer, and Leslie G Biesecker J Med Genet 2007; 44: e59. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 10 November 2006. doi:10.1136/jmg.2006.042473

	13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, Stefania Gimelli, Paola Maraschio, Palma Finelli, Sabrina Giglio, Elisabetta Lapi, Maria Francesca Bedeschi, Silvana Guerneri, Giulia Arrigo, Maria Grazia Patricelli, Teresa Mattina, Oriana Guzzardi, Vanna Pecile, Adalgisa Police, Gioacchino Scarano, Lidia Larizza, Orsetta Zuffardi, and Daniela Giardino J Med Genet 2007; 44: e60. doi:10.1136/jmg.2006.043059 [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]

	Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1 Douglas R Stewart, Christopher L Corless, Brian P Rubin, Michael C Heinrich, Ludwine M Messiaen, Lisa J Kessler, Paul J Zhang, and David G Brooks J Med Genet 2007; 44: e61. doi:10.1136/jmg.2006.043075 [Abstract] [Full text] [PDF] [Request Permissions]

	Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women Bermseok Oh, Shin-Yoon Kim, Duk Jae Kim, Jong Yong Lee, Jong-Keuk Lee, Kuchan Kimm, Byung Lae Park, Hyoung Doo Shin, Tae-Ho Kim, Eui Kyun Park, Jung-Min Koh, and Ghi Su Kim J Med Genet 2007; 44: e62. doi:10.1136/jmg.2006.042259 [Abstract] [Full text] [web only figure and tables] [PDF] [Request Permissions]

	*Is ${alpha}$ -T catenin (VR22) an Alzheimer’s disease risk gene?* Lars Bertram, Kristina Mullin, Michele Parkinson, Monica Hsiao, Thomas J Moscarillo, Steven L Wagner, K David Becker, Gonul Velicelebi, Deborah Blacker, and Rudolph E Tanzi J Med Genet 2007; 44: e63. doi:10.1136/jmg.2005.039263 [Abstract] [Full text] [PDF] [Request Permissions]