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January 2006 (Volume 43, Number 1). [Index by author]

		Reviews Original articles Short reports Letters to JMG Electronic letters

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Reviews

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment
K Janssens, F Vanhoenacker, M Bonduelle, L Verbruggen, L Van Maldergem, S Ralston, N Guañabens, N Migone, S Wientroub, M T Divizia, C Bergmann, C Bennett, S Simsek, S Melançon, T Cundy, and W Van Hul
J Med Genet 2006; 43: 1-11. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 May 2005. doi:10.1136/jmg.2005.033522

Original articles

Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage
P Stuart, R P Nair, G R Abecasis, I Nistor, R Hiremagalore, N V Chia, Z S Qin, R A Thompson, S Jenisch, M Weichenthal, J Janiga, H W Lim, E Christophers, J J Voorhees, and J T Elder
J Med Genet 2006; 43: 12-17. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 27 May 2005. doi:10.1136/jmg.2005.032193

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
M-H Wei, O Toure, G M Glenn, M Pithukpakorn, L Neckers, C Stolle, P Choyke, R Grubb, L Middelton, M L Turner, M M Walther, M J Merino, B Zbar, W M Linehan, and J R Toro
J Med Genet 2006; 43: 18-27. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 3 June 2005. doi:10.1136/jmg.2005.033506

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH
K K Mantripragada, A-C Thuresson, A Piotrowski, T Díaz de Ståhl, U Menzel, G Grigelionis, R E Ferner, S Griffiths, L Bolund, V Mautner, M Nordling, E Legius, D Vetrie, N Dahl, L Messiaen, M Upadhyaya, C E G Bruder, and J P Dumanski
J Med Genet 2006; 43: 28-38. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 June 2005. doi:10.1136/jmg.2005.033795

Comprehensive analysis of CDKN2A (p16^INK4A/p14^ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma
K Laud, C Marian, M F Avril, M Barrois, A Chompret, A M Goldstein, M A Tucker, P A Clark, G Peters, V Chaudru, F Demenais, A Spatz, M W Smith, G M Lenoir, B Bressac-de Paillerets, French Hereditary Melanoma Study Group
J Med Genet 2006; 43: 39-47. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 3 June 2005. doi:10.1136/jmg.2005.033498

Short reports

Skewed X chromosome inactivation and early-onset breast cancer
J P Struewing, M A Pineda, M E Sherman, J Lissowska, L A Brinton, B Peplonska, A Bardin-Mikolajczak, and M Garcia-Closas
J Med Genet 2006; 43: 48-53. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 May 2005. doi:10.1136/jmg.2005.033134

Letters to JMG

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study
C Thauvin-Robinet, M Cossée, V Cormier-Daire, L Van Maldergem, A Toutain, Y Alembik, E Bieth, V Layet, P Parent, A David, A Goldenberg, G Mortier, D Héron, P Sagot, A M Bouvier, F Huet, V Cusin, A Donzel, D Devys, J R Teyssier, and L Faivre
J Med Genet 2006; 43: 54-61. doi:10.1136/jmg.2004.027672 [Abstract] [Full text] [PDF] [Request Permissions]

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes
G J Pazour, N Agrin, B L Walker, and G B Witman
J Med Genet 2006; 43: 62-73. [Abstract] [Full text] [Web-only appendix] [PDF] [Request Permissions]
Published Online First: 3 June 2005. doi:10.1136/jmg.2005.033001

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants
P K Lovelock, S Healey, W Au, E Y M Sum, A Tesoriero, E M Wong, S Hinson, R Brinkworth, A Bekessy, O Diez, L Izatt, E Solomon, M Jenkins, H Renard, J Hopper, P Waring, kConFab Investigators, S V Tavtigian, D Goldgar, G J Lindeman, J E Visvader, F J Couch, B R Henderson, M Southey, G Chenevix-Trench, A B Spurdle, and M A Brown
J Med Genet 2006; 43: 74-83. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 May 2005. doi:10.1136/jmg.2005.033258

Mutations in hepatocyte nuclear factor-1ß and their related phenotypes
E L Edghill, C Bingham, S Ellard, and A T Hattersley
J Med Genet 2006; 43: 84-90. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 1 June 2005. doi:10.1136/jmg.2005.032854

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation
B C Figueiredo, R Sandrini, G P Zambetti, R M Pereira, C Cheng, W Liu, L Lacerda, M A Pianovski, E Michalkiewicz, J Jenkins, C Rodriguez-Galindo, M J Mastellaro, S Vianna, F Watanabe, F Sandrini, S B I Arram, P Boffetta, and R C Ribeiro
J Med Genet 2006; 43: 91-96. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 July 2005. doi:10.1136/jmg.2004.030551

Electronic letters

Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24–25
M Geremek, E Zietkiewicz, S R Diehl, B Z Alizadeh, C Wijmenga, and M Witt
J Med Genet 2006; 43: e1. doi:10.1136/jmg.2005.031526 [Abstract] [Full text] [PDF] [Request Permissions]

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract
A Arora, P J Minogue, X Liu, M A Reddy, J R Ainsworth, S S Bhattacharya, A R Webster, D M Hunt, L Ebihara, A T Moore, E C Beyer, and V M Berthoud
J Med Genet 2006; 43: e2. doi:10.1136/jmg.2005.034108 [Abstract] [Full text] [PDF] [Request Permissions]

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	Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage P Stuart, R P Nair, G R Abecasis, I Nistor, R Hiremagalore, N V Chia, Z S Qin, R A Thompson, S Jenisch, M Weichenthal, J Janiga, H W Lim, E Christophers, J J Voorhees, and J T Elder J Med Genet 2006; 43: 12-17. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 27 May 2005. doi:10.1136/jmg.2005.032193

	Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer M-H Wei, O Toure, G M Glenn, M Pithukpakorn, L Neckers, C Stolle, P Choyke, R Grubb, L Middelton, M L Turner, M M Walther, M J Merino, B Zbar, W M Linehan, and J R Toro J Med Genet 2006; 43: 18-27. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 3 June 2005. doi:10.1136/jmg.2005.033506

	*Identification of novel deletion breakpoints bordered by segmental duplications in the NF1* locus using high resolution array-CGH** K K Mantripragada, A-C Thuresson, A Piotrowski, T Díaz de Ståhl, U Menzel, G Grigelionis, R E Ferner, S Griffiths, L Bolund, V Mautner, M Nordling, E Legius, D Vetrie, N Dahl, L Messiaen, M Upadhyaya, C E G Bruder, and J P Dumanski J Med Genet 2006; 43: 28-38. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 June 2005. doi:10.1136/jmg.2005.033795

	*Comprehensive analysis of CDKN2A* (p16^INK4A/p14^ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma** K Laud, C Marian, M F Avril, M Barrois, A Chompret, A M Goldstein, M A Tucker, P A Clark, G Peters, V Chaudru, F Demenais, A Spatz, M W Smith, G M Lenoir, B Bressac-de Paillerets, French Hereditary Melanoma Study Group J Med Genet 2006; 43: 39-47. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 3 June 2005. doi:10.1136/jmg.2005.033498

	Skewed X chromosome inactivation and early-onset breast cancer J P Struewing, M A Pineda, M E Sherman, J Lissowska, L A Brinton, B Peplonska, A Bardin-Mikolajczak, and M Garcia-Closas J Med Genet 2006; 43: 48-53. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 May 2005. doi:10.1136/jmg.2005.033134

	Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study C Thauvin-Robinet, M Cossée, V Cormier-Daire, L Van Maldergem, A Toutain, Y Alembik, E Bieth, V Layet, P Parent, A David, A Goldenberg, G Mortier, D Héron, P Sagot, A M Bouvier, F Huet, V Cusin, A Donzel, D Devys, J R Teyssier, and L Faivre J Med Genet 2006; 43: 54-61. doi:10.1136/jmg.2004.027672 [Abstract] [Full text] [PDF] [Request Permissions]

	Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes G J Pazour, N Agrin, B L Walker, and G B Witman J Med Genet 2006; 43: 62-73. [Abstract] [Full text] [Web-only appendix] [PDF] [Request Permissions] Published Online First: 3 June 2005. doi:10.1136/jmg.2005.033001

	Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants P K Lovelock, S Healey, W Au, E Y M Sum, A Tesoriero, E M Wong, S Hinson, R Brinkworth, A Bekessy, O Diez, L Izatt, E Solomon, M Jenkins, H Renard, J Hopper, P Waring, kConFab Investigators, S V Tavtigian, D Goldgar, G J Lindeman, J E Visvader, F J Couch, B R Henderson, M Southey, G Chenevix-Trench, A B Spurdle, and M A Brown J Med Genet 2006; 43: 74-83. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 May 2005. doi:10.1136/jmg.2005.033258

	Mutations in hepatocyte nuclear factor-1ß and their related phenotypes E L Edghill, C Bingham, S Ellard, and A T Hattersley J Med Genet 2006; 43: 84-90. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 1 June 2005. doi:10.1136/jmg.2005.032854

	*Penetrance of adrenocortical tumours associated with the germline TP53* R337H mutation** B C Figueiredo, R Sandrini, G P Zambetti, R M Pereira, C Cheng, W Liu, L Lacerda, M A Pianovski, E Michalkiewicz, J Jenkins, C Rodriguez-Galindo, M J Mastellaro, S Vianna, F Watanabe, F Sandrini, S B I Arram, P Boffetta, and R C Ribeiro J Med Genet 2006; 43: 91-96. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 20 July 2005. doi:10.1136/jmg.2004.030551

	Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24–25 M Geremek, E Zietkiewicz, S R Diehl, B Z Alizadeh, C Wijmenga, and M Witt J Med Genet 2006; 43: e1. doi:10.1136/jmg.2005.031526 [Abstract] [Full text] [PDF] [Request Permissions]

	*A novel GJA8* mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract** A Arora, P J Minogue, X Liu, M A Reddy, J R Ainsworth, S S Bhattacharya, A R Webster, D M Hunt, L Ebihara, A T Moore, E C Beyer, and V M Berthoud J Med Genet 2006; 43: e2. doi:10.1136/jmg.2005.034108 [Abstract] [Full text] [PDF] [Request Permissions]