J Med Genet -- Table of Contents (45 [10])

Subscribe here
Activate your subscription

Home > Volume 45, Number 10

Receive tables of contents (and more) by e-mail each issue: Subscribe to Customised @lerts

Other Issues:
October 2008 (Volume 45, Number 10). [Index by author]

		Reviews Commentaries Original articles Letter to JMG Short reports Mutation report

Find articles in this issue containing these words: [Search ALL Issues]

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

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

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
S Faghri, D Tamura, K H Kraemer, and J J DiGiovanna
J Med Genet 2008; 45: 609-621. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 25 June 2008. doi:10.1136/jmg.2008.058743

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?
H Kehrer-Sawatzki and D N Cooper
J Med Genet 2008; 45: 622-631. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 29 May 2008. doi:10.1136/jmg.2008.059329

Commentaries

Is genetics inhumane?
Arnold Munnich
J Med Genet 2008; 45: 632-634. doi:10.1136/jmg.2008.061101 [Extract] [Full text] [PDF] [Request Permissions]

Original articles

Congenital heart disease is a feature of severe infantile spinal muscular atrophy
S Rudnik-Schöneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, and K Zerres
J Med Genet 2008; 45: 635-638. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 28 July 2008. doi:10.1136/jmg.2008.057950

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients
A Botta, F Rinaldi, C Catalli, L Vergani, E Bonifazi, V Romeo, E Loro, A Viola, C Angelini, and G Novelli
J Med Genet 2008; 45: 639-646. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 8 July 2008. doi:10.1136/jmg.2008.058909

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
N Bahi-Buisson, K Poirier, N Boddaert, Y Saillour, L Castelnau, N Philip, G Buyse, L Villard, S Joriot, S Marret, M Bourgeois, H Van Esch, L Lagae, J Amiel, L Hertz-Pannier, A Roubertie, F Rivier, J M Pinard, C Beldjord, and J Chelly
J Med Genet 2008; 45: 647-653. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 26 August 2008. doi:10.1136/jmg.2008.058073

Letter to JMG

Heart–hand syndrome of Slovenian type: a new kind of laminopathy
L Renou, S Stora, R Ben Yaou, M Volk, M Sinkovec, L Demay, P Richard, B Peterlin, and G Bonne
J Med Genet 2008; 45: 666-671. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 July 2008. doi:10.1136/jmg.2008.060020

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region
K Buysse, A Crepel, B Menten, F Pattyn, F Antonacci, J A Veltman, L A Larsen, Z Tümer, A de Klein, I van de Laar, K Devriendt, G Mortier, and F Speleman
J Med Genet 2008; 45: 672-678. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 July 2008. doi:10.1136/jmg.2008.058883

Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients
L Davidovic, S Sacconi, E G Bechara, S Delplace, M Allegra, C Desnuelle, and B Bardoni
J Med Genet 2008; 45: 679-685. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 July 2008. doi:10.1136/jmg.2008.060541

Short reports

A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis
T Mushiroda, S Wattanapokayakit, A Takahashi, T Nukiwa, S Kudoh, T Ogura, H Taniguchi, M Kubo, N Kamatani, Y Nakamura, and the Pirfenidone Clinical Study Group
J Med Genet 2008; 45: 654-656. doi:10.1136/jmg.2008.057356 [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]

Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach
F Chibon, C Primois, J-M Bressieux, D Lacombe, C Lok, L Mauriac, A Taieb, and M Longy
J Med Genet 2008; 45: 657-665. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 2 May 2008. doi:10.1136/jmg.2008.058131

Mutation report

Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene
S Chabrier, N Monnier, and J Lunardi
J Med Genet 2008; 45: 686-688. doi:10.1136/jmg.2008.059766 [Abstract] [Full text] [PDF] [Request Permissions]

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Genetics jobs

Show me all >>

	Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations S Faghri, D Tamura, K H Kraemer, and J J DiGiovanna J Med Genet 2008; 45: 609-621. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 25 June 2008. doi:10.1136/jmg.2008.058743

	Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? H Kehrer-Sawatzki and D N Cooper J Med Genet 2008; 45: 622-631. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 29 May 2008. doi:10.1136/jmg.2008.059329

	Is genetics inhumane? Arnold Munnich J Med Genet 2008; 45: 632-634. doi:10.1136/jmg.2008.061101 [Extract] [Full text] [PDF] [Request Permissions]

	Congenital heart disease is a feature of severe infantile spinal muscular atrophy S Rudnik-Schöneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, and K Zerres J Med Genet 2008; 45: 635-638. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 28 July 2008. doi:10.1136/jmg.2008.057950

	The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients A Botta, F Rinaldi, C Catalli, L Vergani, E Bonifazi, V Romeo, E Loro, A Viola, C Angelini, and G Novelli J Med Genet 2008; 45: 639-646. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 8 July 2008. doi:10.1136/jmg.2008.058909

	*Refinement of cortical dysgeneses spectrum associated with TUBA1A* mutations** N Bahi-Buisson, K Poirier, N Boddaert, Y Saillour, L Castelnau, N Philip, G Buyse, L Villard, S Joriot, S Marret, M Bourgeois, H Van Esch, L Lagae, J Amiel, L Hertz-Pannier, A Roubertie, F Rivier, J M Pinard, C Beldjord, and J Chelly J Med Genet 2008; 45: 647-653. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 26 August 2008. doi:10.1136/jmg.2008.058073

	Heart–hand syndrome of Slovenian type: a new kind of laminopathy L Renou, S Stora, R Ben Yaou, M Volk, M Sinkovec, L Demay, P Richard, B Peterlin, and G Bonne J Med Genet 2008; 45: 666-671. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 July 2008. doi:10.1136/jmg.2008.060020

	Mapping of 5q35 chromosomal rearrangements within a genomically unstable region K Buysse, A Crepel, B Menten, F Pattyn, F Antonacci, J A Veltman, L A Larsen, Z Tümer, A de Klein, I van de Laar, K Devriendt, G Mortier, and F Speleman J Med Genet 2008; 45: 672-678. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 July 2008. doi:10.1136/jmg.2008.058883

	Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients L Davidovic, S Sacconi, E G Bechara, S Delplace, M Allegra, C Desnuelle, and B Bardoni J Med Genet 2008; 45: 679-685. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 July 2008. doi:10.1136/jmg.2008.060541

	*A genome-wide association study identifies an association of a common variant in TERT* with susceptibility to idiopathic pulmonary fibrosis** T Mushiroda, S Wattanapokayakit, A Takahashi, T Nukiwa, S Kudoh, T Ogura, H Taniguchi, M Kubo, N Kamatani, Y Nakamura, and the Pirfenidone Clinical Study Group J Med Genet 2008; 45: 654-656. doi:10.1136/jmg.2008.057356 [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]

	*Contribution of PTEN* large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach** F Chibon, C Primois, J-M Bressieux, D Lacombe, C Lok, L Mauriac, A Taieb, and M Longy J Med Genet 2008; 45: 657-665. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 2 May 2008. doi:10.1136/jmg.2008.058131

	*Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S* gene** S Chabrier, N Monnier, and J Lunardi J Med Genet 2008; 45: 686-688. doi:10.1136/jmg.2008.059766 [Abstract] [Full text] [PDF] [Request Permissions]