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June 2008 (Volume 45, Number 6). [Index by author]

		Original articles Letters to JMG PostScript

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Table of Contents (PDF) | Front Matter (PDF)

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Original articles

BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports
J R Toro, M-H Wei, G M Glenn, M Weinreich, O Toure, C Vocke, M Turner, P Choyke, M J Merino, P A Pinto, S M Steinberg, L S Schmidt, and W M Linehan
J Med Genet 2008; 45: 321-331. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 30 January 2008. doi:10.1136/jmg.2007.054304

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis
K D Hadfield, W G Newman, N L Bowers, A Wallace, C Bolger, A Colley, E McCann, D Trump, T Prescott, and D G R Evans
J Med Genet 2008; 45: 332-339. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 19 February 2008. doi:10.1136/jmg.2007.056499

A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
M Clendenning, L Senter, H Hampel, K Lagerstedt Robinson, S Sun, D Buchanan, M D Walsh, M Nilbert, J Green, J Potter, A Lindblom, and A de la Chapelle
J Med Genet 2008; 45: 340-345. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 4 January 2008. doi:10.1136/jmg.2007.056150

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
B W M van Bon, D A Koolen, R Borgatti, A Magee, S Garcia-Minaur, L Rooms, W Reardon, M Zollino, M C Bonaglia, M De Gregori, F Novara, R Grasso, R Ciccone, H A van Duyvenvoorde, A M Aalbers, R Guerrini, E Fazzi, W M Nillesen, S McCullough, S G Kant, C L Marcelis, R Pfundt, N de Leeuw, D Smeets, E A Sistermans, J M Wit, B C Hamel, H G Brunner, F Kooy, O Zuffardi, and B B A de Vries
J Med Genet 2008; 45: 346-354. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055830

High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis
D Mei, R Lewis, E Parrini, L P Lazarou, C Marini, D T Pilz, and R Guerrini
J Med Genet 2008; 45: 355-361. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 19 February 2008. doi:10.1136/jmg.2007.056507

Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations
G Kristjansdottir, J K Sandling, A Bonetti, I M Roos, L Milani, C Wang, S M Gustafsdottir, S Sigurdsson, A Lundmark, P J Tienari, K Koivisto, I Elovaara, T Pirttilä, M Reunanen, L Peltonen, J Saarela, J Hillert, T Olsson, U Landegren, A Alcina, O Fernández, L Leyva, M Guerrero, M Lucas, G Izquierdo, F Matesanz, and A-C Syvänen
J Med Genet 2008; 45: 362-369. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 19 February 2008. doi:10.1136/jmg.2007.055012

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
E Klopocki, C-E Ott, N Benatar, R Ullmann, S Mundlos, and K Lehmann
J Med Genet 2008; 45: 370-375. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055699

Letters to JMG

Identification of a novel PEX14 mutation in Zellweger syndrome
S J Huybrechts, P P Van Veldhoven, I Hoffman, R Zeevaert, R de Vos, P Demaerel, M Brams, J Jaeken, M Fransen, and D Cassiman
J Med Genet 2008; 45: 376-383. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions]
Published Online First: 19 February 2008. doi:10.1136/jmg.2007.056697

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
L Faivre, G Collod-Beroud, A Child, B Callewaert, B L Loeys, C Binquet, E Gautier, E Arbustini, K Mayer, M Arslan-Kirchner, C Stheneur, A Kiotsekoglou, P Comeglio, N Marziliano, D Halliday, C Beroud, C Bonithon-Kopp, M Claustres, H Plauchu, P N Robinson, L Adès, J De Backer, P Coucke, U Francke, A De Paepe, C Boileau, and G Jondeau
J Med Genet 2008; 45: 384-390. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 29 February 2008. doi:10.1136/jmg.2007.056382

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies
S T South, A F Rope, A N Lamb, E Aston, N Glaus, H Whitby, T Maxwell, X L Zhu, and A R Brothman
J Med Genet 2008; 45: 391-395. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 April 2008. doi:10.1136/jmg.2008.057315

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndrome
H Bullman, M Lever, D O Robinson, D J G Mackay, S E Holder, and E L Wakeling
J Med Genet 2008; 45: 396-399. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 May 2008. doi:10.1136/jmg.2007.057059

PostScript

Heme oxygenase 1 variations and lung function decline in smokers: proof of replication
M Siedlinski, C C van Diemen, D S Postma, and H M Boezen
J Med Genet 2008; 45: 400. doi:10.1136/jmg.2008.058123 [Extract] [Full text] [PDF] [Request Permissions]

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	BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports J R Toro, M-H Wei, G M Glenn, M Weinreich, O Toure, C Vocke, M Turner, P Choyke, M J Merino, P A Pinto, S M Steinberg, L S Schmidt, and W M Linehan J Med Genet 2008; 45: 321-331. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 30 January 2008. doi:10.1136/jmg.2007.054304

	*Molecular characterisation of SMARCB1* and NF2 in familial and sporadic schwannomatosis** K D Hadfield, W G Newman, N L Bowers, A Wallace, C Bolger, A Colley, E McCann, D Trump, T Prescott, and D G R Evans J Med Genet 2008; 45: 332-339. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 19 February 2008. doi:10.1136/jmg.2007.056499

	*A frame-shift mutation of PMS2* is a widespread cause of Lynch syndrome** M Clendenning, L Senter, H Hampel, K Lagerstedt Robinson, S Sun, D Buchanan, M D Walsh, M Nilbert, J Green, J Potter, A Lindblom, and A de la Chapelle J Med Genet 2008; 45: 340-345. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 4 January 2008. doi:10.1136/jmg.2007.056150

	Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis B W M van Bon, D A Koolen, R Borgatti, A Magee, S Garcia-Minaur, L Rooms, W Reardon, M Zollino, M C Bonaglia, M De Gregori, F Novara, R Grasso, R Ciccone, H A van Duyvenvoorde, A M Aalbers, R Guerrini, E Fazzi, W M Nillesen, S McCullough, S G Kant, C L Marcelis, R Pfundt, N de Leeuw, D Smeets, E A Sistermans, J M Wit, B C Hamel, H G Brunner, F Kooy, O Zuffardi, and B B A de Vries J Med Genet 2008; 45: 346-354. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055830

	*High frequency of genomic deletions—and a duplication—in the LIS1* gene in lissencephaly: implications for molecular diagnosis** D Mei, R Lewis, E Parrini, L P Lazarou, C Marini, D T Pilz, and R Guerrini J Med Genet 2008; 45: 355-361. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 19 February 2008. doi:10.1136/jmg.2007.056507

	*Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations* G Kristjansdottir, J K Sandling, A Bonetti, I M Roos, L Milani, C Wang, S M Gustafsdottir, S Sigurdsson, A Lundmark, P J Tienari, K Koivisto, I Elovaara, T Pirttilä, M Reunanen, L Peltonen, J Saarela, J Hillert, T Olsson, U Landegren, A Alcina, O Fernández, L Leyva, M Guerrero, M Lucas, G Izquierdo, F Matesanz, and A-C Syvänen J Med Genet 2008; 45: 362-369. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 19 February 2008. doi:10.1136/jmg.2007.055012

	A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome E Klopocki, C-E Ott, N Benatar, R Ullmann, S Mundlos, and K Lehmann J Med Genet 2008; 45: 370-375. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055699

	*Identification of a novel PEX14* mutation in Zellweger syndrome** S J Huybrechts, P P Van Veldhoven, I Hoffman, R Zeevaert, R de Vos, P Demaerel, M Brams, J Jaeken, M Fransen, and D Cassiman J Med Genet 2008; 45: 376-383. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions] Published Online First: 19 February 2008. doi:10.1136/jmg.2007.056697

	Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands L Faivre, G Collod-Beroud, A Child, B Callewaert, B L Loeys, C Binquet, E Gautier, E Arbustini, K Mayer, M Arslan-Kirchner, C Stheneur, A Kiotsekoglou, P Comeglio, N Marziliano, D Halliday, C Beroud, C Bonithon-Kopp, M Claustres, H Plauchu, P N Robinson, L Adès, J De Backer, P Coucke, U Francke, A De Paepe, C Boileau, and G Jondeau J Med Genet 2008; 45: 384-390. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 29 February 2008. doi:10.1136/jmg.2007.056382

	Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies S T South, A F Rope, A N Lamb, E Aston, N Glaus, H Whitby, T Maxwell, X L Zhu, and A R Brothman J Med Genet 2008; 45: 391-395. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 April 2008. doi:10.1136/jmg.2008.057315

	Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndrome H Bullman, M Lever, D O Robinson, D J G Mackay, S E Holder, and E L Wakeling J Med Genet 2008; 45: 396-399. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 12 May 2008. doi:10.1136/jmg.2007.057059

	Heme oxygenase 1 variations and lung function decline in smokers: proof of replication M Siedlinski, C C van Diemen, D S Postma, and H M Boezen J Med Genet 2008; 45: 400. doi:10.1136/jmg.2008.058123 [Extract] [Full text] [PDF] [Request Permissions]