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September 2006 (Volume 43, Number 9). [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

Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour
R H Scott, C A Stiller, L Walker, and N Rahman
J Med Genet 2006; 43: 705-715. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 May 2006. doi:10.1136/jmg.2006.041723

Cerebral cavernous malformation: new molecular and clinical insights
N Revencu and M Vikkula
J Med Genet 2006; 43: 716-721. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 29 March 2006. doi:10.1136/jmg.2006.041079

Original articles

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations
N L Prigoda, S Savas, S A Abdalla, B Piovesan, D Rushlow, K Vandezande, E Zhang, H Ozcelik, B L Gallie, and M Letarte
J Med Genet 2006; 43: 722-728. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 May 2006. doi:10.1136/jmg.2006.042606

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
H L Archer, J Evans, S Edwards, J Colley, R Newbury-Ecob, F O’Callaghan, M Huyton, M O’Regan, J Tolmie, J Sampson, A Clarke, and J Osborne
J Med Genet 2006; 43: 729-734. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 April 2006. doi:10.1136/jmg.2006.041467

High incidence of SHOX anomalies in individuals with short stature
C Huber, M Rosilio, A Munnich, V Cormier-Daire, the French SHOX GeNeSIS Module
J Med Genet 2006; 43: 735-739. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 5 April 2006. doi:10.1136/jmg.2006.040998

Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation
T Li, L A Lange, X Li, L Susswein, B Bryant, R Malone, E M Lange, T-Y Huang, D W Stafford, and J P Evans
J Med Genet 2006; 43: 740-744. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 April 2006. doi:10.1136/jmg.2005.040410

Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course
S Schön, V Schulz, C Prante, D Hendig, C Szliska, J Kuhn, K Kleesiek, and C Götting
J Med Genet 2006; 43: 745-749. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 29 March 2006. doi:10.1136/jmg.2006.040972

Short reports

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome
S T Holden, J J Cox, I Kesterton, N S Thomas, C Carr, and C G Woods
J Med Genet 2006; 43: 750-754. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 5 May 2006. doi:10.1136/jmg.2006.041673

Letters to JMG

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer
M Pithukpakorn, M-H Wei, O Toure, P J Steinbach, G M Glenn, B Zbar, W M Linehan, and J R Toro
J Med Genet 2006; 43: 755-762. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 5 April 2006. doi:10.1136/jmg.2006.041087

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
A-F Roux, V Faugère, S Le Guédard, N Pallares-Ruiz, A Vielle, S Chambert, S Marlin, C Hamel, B Gilbert, S Malcolm, M Claustres, for the French Usher Syndrome Collaboration
J Med Genet 2006; 43: 763-768. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 5 May 2006. doi:10.1136/jmg.2006.041954

Electronic letters

A novel mutation in the mitochondrial tRNA^Ser(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency
L-J C Wong, D Yim, R-K Bai, H Kwon, M M Vacek, J Zane, C L Hoppel, and D S Kerr
J Med Genet 2006; 43: e46. doi:10.1136/jmg.2005.040626 [Abstract] [Full text] [PDF] [Request Permissions]

Measurement of mRNA of trophoblast-specific genes in cellular and plasma components of maternal blood
S Okazaki, A Sekizawa, Y Purwosunu, M Iwasaki, A Farina, and T Okai
J Med Genet 2006; 43: e47. doi:10.1136/jmg.2005.040634 [Abstract] [Full text] [PDF] [Request Permissions]

Online mutation reports

Novel NHLRC1 mutations and genotype–phenotype correlations in patients with Lafora’s progressive myoclonic epilepsy
S Singh, I Sethi, S Francheschetti, C Riggio, G Avanzini, K Yamakawa, A V Delgado-Escueta, and S Ganesh
J Med Genet 2006; 43: e48. doi:10.1136/jmg.2005.039479 [Abstract] [Full text] [PDF] [Request Permissions]

The contribution of germline rearrangements to the spectrum of BRCA2 mutations
F Casilli, I Tournier, O M Sinilnikova, F Coulet, F Soubrier, C Houdayer, A Hardouin, P Berthet, H Sobol, V Bourdon, D Muller, J P Fricker, C Capoulade-Metay, A Chompret, C Nogues, S Mazoyer, P Chappuis, P Maillet, C Philippe, A Lortholary, P Gesta, S Bézieau, C Toulas, L Gladieff, C M Maugard, D M Provencher, C Dugast, C Delvincourt, T D Nguyen, L Faivre, V Bonadona, T Frébourg, R Lidereau, D Stoppa-Lyonnet, and M Tosi
J Med Genet 2006; 43: e49. doi:10.1136/jmg.2005.040212 [Abstract] [Full text] [PDF] [Request Permissions]

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	Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour R H Scott, C A Stiller, L Walker, and N Rahman J Med Genet 2006; 43: 705-715. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 May 2006. doi:10.1136/jmg.2006.041723

	Cerebral cavernous malformation: new molecular and clinical insights N Revencu and M Vikkula J Med Genet 2006; 43: 716-721. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 29 March 2006. doi:10.1136/jmg.2006.041079

	Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations N L Prigoda, S Savas, S A Abdalla, B Piovesan, D Rushlow, K Vandezande, E Zhang, H Ozcelik, B L Gallie, and M Letarte J Med Genet 2006; 43: 722-728. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 May 2006. doi:10.1136/jmg.2006.042606

	CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients H L Archer, J Evans, S Edwards, J Colley, R Newbury-Ecob, F O’Callaghan, M Huyton, M O’Regan, J Tolmie, J Sampson, A Clarke, and J Osborne J Med Genet 2006; 43: 729-734. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 12 April 2006. doi:10.1136/jmg.2006.041467

	High incidence of SHOX anomalies in individuals with short stature C Huber, M Rosilio, A Munnich, V Cormier-Daire, the French SHOX GeNeSIS Module J Med Genet 2006; 43: 735-739. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 5 April 2006. doi:10.1136/jmg.2006.040998

	*Polymorphisms in the VKORC1* gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation** T Li, L A Lange, X Li, L Susswein, B Bryant, R Malone, E M Lange, T-Y Huang, D W Stafford, and J P Evans J Med Genet 2006; 43: 740-744. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 12 April 2006. doi:10.1136/jmg.2005.040410

	Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course S Schön, V Schulz, C Prante, D Hendig, C Szliska, J Kuhn, K Kleesiek, and C Götting J Med Genet 2006; 43: 745-749. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 29 March 2006. doi:10.1136/jmg.2006.040972

	Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome S T Holden, J J Cox, I Kesterton, N S Thomas, C Carr, and C G Woods J Med Genet 2006; 43: 750-754. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 5 May 2006. doi:10.1136/jmg.2006.041673

	Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer M Pithukpakorn, M-H Wei, O Toure, P J Steinbach, G M Glenn, B Zbar, W M Linehan, and J R Toro J Med Genet 2006; 43: 755-762. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 5 April 2006. doi:10.1136/jmg.2006.041087

	Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90% A-F Roux, V Faugère, S Le Guédard, N Pallares-Ruiz, A Vielle, S Chambert, S Marlin, C Hamel, B Gilbert, S Malcolm, M Claustres, for the French Usher Syndrome Collaboration J Med Genet 2006; 43: 763-768. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 5 May 2006. doi:10.1136/jmg.2006.041954

	A novel mutation in the mitochondrial tRNA^Ser(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency L-J C Wong, D Yim, R-K Bai, H Kwon, M M Vacek, J Zane, C L Hoppel, and D S Kerr J Med Genet 2006; 43: e46. doi:10.1136/jmg.2005.040626 [Abstract] [Full text] [PDF] [Request Permissions]

	Measurement of mRNA of trophoblast-specific genes in cellular and plasma components of maternal blood S Okazaki, A Sekizawa, Y Purwosunu, M Iwasaki, A Farina, and T Okai J Med Genet 2006; 43: e47. doi:10.1136/jmg.2005.040634 [Abstract] [Full text] [PDF] [Request Permissions]

	*Novel NHLRC1* mutations and genotype–phenotype correlations in patients with Lafora’s progressive myoclonic epilepsy** S Singh, I Sethi, S Francheschetti, C Riggio, G Avanzini, K Yamakawa, A V Delgado-Escueta, and S Ganesh J Med Genet 2006; 43: e48. doi:10.1136/jmg.2005.039479 [Abstract] [Full text] [PDF] [Request Permissions]

	*The contribution of germline rearrangements to the spectrum of BRCA2* mutations** F Casilli, I Tournier, O M Sinilnikova, F Coulet, F Soubrier, C Houdayer, A Hardouin, P Berthet, H Sobol, V Bourdon, D Muller, J P Fricker, C Capoulade-Metay, A Chompret, C Nogues, S Mazoyer, P Chappuis, P Maillet, C Philippe, A Lortholary, P Gesta, S Bézieau, C Toulas, L Gladieff, C M Maugard, D M Provencher, C Dugast, C Delvincourt, T D Nguyen, L Faivre, V Bonadona, T Frébourg, R Lidereau, D Stoppa-Lyonnet, and M Tosi J Med Genet 2006; 43: e49. doi:10.1136/jmg.2005.040212 [Abstract] [Full text] [PDF] [Request Permissions]