J Med Genet -- Table of Contents (45 [3])

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March 2008 (Volume 45, Number 3). [Index by author]

		Original articles Short report Letters to JMG Mutation report PostScript

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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.

Original articles

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
A I Jonckheere, M Hogeveen, L G J Nijtmans, M A M van den Brand, A J M Janssen, J H S Diepstra, F C A van den Brandt, L P van den Heuvel, F A Hol, T G J Hofste, L Kapusta, U Dillmann, M G Shamdeen, J A M Smeitink, and R J T Rodenburg
J Med Genet 2008; 45: 129-133. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 22 October 2007. doi:10.1136/jmg.2007.052084

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis
E Rudd, Y T Bryceson, C Zheng, J Edner, S M Wood, K Ramme, S Gavhed, A Gürgey, M Hellebostad, A G Bechensteen, H-G Ljunggren, B Fadeel, M Nordenskjöld, and J-I Henter
J Med Genet 2008; 45: 134-141. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 9 November 2007. doi:10.1136/jmg.2007.054288

Polymorphic MLH1 and risk of cancer after methylating chemotherapy for Hodgkin lymphoma
L J Worrillow, A G Smith, K Scott, M Andersson, A J Ashcroft, G M Dores, B Glimelius, E Holowaty, G H Jackson, G L Jones, C F Lynch, G Morgan, E Pukkala, D Scott, H H Storm, P R Taylor, M Vyberg, E Willett, L B Travis, and J M Allan
J Med Genet 2008; 45: 142-146. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 24 October 2007. doi:10.1136/jmg.2007.053850

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation
E Rossi, M Riegel, J Messa, S Gimelli, P Maraschio, R Ciccone, M Stroppi, P Riva, C S Perrotta, T Mattina, L Memo, A Baumer, V Kucinskas, C Castellan, A Schinzel, and O Zuffardi
J Med Genet 2008; 45: 147-154. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 November 2007. doi:10.1136/jmg.2007.054007

Short report

A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts
A Arora, P J Minogue, X Liu, P K Addison, I Russel-Eggitt, A R Webster, D M Hunt, L Ebihara, E C Beyer, V M Berthoud, and A T Moore
J Med Genet 2008; 45: 155-160. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 November 2007. doi:10.1136/jmg.2007.051029

Letters to JMG

A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness
E A de Zwart-Storm, H Hamm, J Stoevesandt, P M Steijlen, P E Martin, M van Geel, and M A M van Steensel
J Med Genet 2008; 45: 161-166. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 9 November 2007. doi:10.1136/jmg.2007.052332

Severe neonatal manifestations of Costello syndrome
I F M Lo, C Brewer, N Shannon, J Shorto, B Tang, G Black, M T Soo, D K K Ng, S T S Lam, and B Kerr
J Med Genet 2008; 45: 167-171. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 26 November 2007. doi:10.1136/jmg.2007.054411

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
H Rosas-Vargas, N Bahi-Buisson, C Philippe, J Nectoux, B Girard, M A N’Guyen Morel, C Gitiaux, L Lazaro, S Odent, P Jonveaux, J Chelly, and T Bienvenu
J Med Genet 2008; 45: 172-178. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 9 November 2007. doi:10.1136/jmg.2007.053504

A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes
D Z Loesch, M Cook, L Litewka, E Gould, A Churchyard, F Tassone, H R Slater, and E Storey
J Med Genet 2008; 45: 179-181. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 5 December 2007. doi:10.1136/jmg.2007.054171

Mutation report

Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness
K Nozu, T Inagaki, X J Fu, Y Nozu, H Kaito, K Kanda, T Sekine, T Igarashi, K Nakanishi, N Yoshikawa, K Iijima, and M Matsuo
J Med Genet 2008; 45: 182-186. doi:10.1136/jmg.2007.052944 [Abstract] [Full text] [PDF] [Request Permissions]

PostScript

Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum
C Orellana, J Bernabeu, S Monfort, M Roselló, S Oltra, I Ferrer, R Quiroga, I Martínez-Garay, and F Martínez
J Med Genet 2008; 45: 187-189. doi:10.1136/jmg.2007.054064 [Extract] [Full text] [PDF] [Request Permissions]

The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15
E Chabchoub, J R Vermeesch, T de Ravel, P de Cock, and J-P Fryns
J Med Genet 2008; 45: 189-192. doi:10.1136/jmg.2007.056176 [Extract] [Full text] [PDF] [Request Permissions]

"SCA16" is really SCA15
R J M Gardner
J Med Genet 2008; 45: 192. doi:10.1136/jmg.2007.056341 [Extract] [Full text] [PDF] [Request Permissions]

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	*A novel mitochondrial ATP8* gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy** A I Jonckheere, M Hogeveen, L G J Nijtmans, M A M van den Brand, A J M Janssen, J H S Diepstra, F C A van den Brandt, L P van den Heuvel, F A Hol, T G J Hofste, L Kapusta, U Dillmann, M G Shamdeen, J A M Smeitink, and R J T Rodenburg J Med Genet 2008; 45: 129-133. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 22 October 2007. doi:10.1136/jmg.2007.052084

	*Spectrum, and clinical and functional implications of UNC13D* mutations in familial haemophagocytic lymphohistiocytosis** E Rudd, Y T Bryceson, C Zheng, J Edner, S M Wood, K Ramme, S Gavhed, A Gürgey, M Hellebostad, A G Bechensteen, H-G Ljunggren, B Fadeel, M Nordenskjöld, and J-I Henter J Med Genet 2008; 45: 134-141. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 9 November 2007. doi:10.1136/jmg.2007.054288

	*Polymorphic MLH1* and risk of cancer after methylating chemotherapy for Hodgkin lymphoma** L J Worrillow, A G Smith, K Scott, M Andersson, A J Ashcroft, G M Dores, B Glimelius, E Holowaty, G H Jackson, G L Jones, C F Lynch, G Morgan, E Pukkala, D Scott, H H Storm, P R Taylor, M Vyberg, E Willett, L B Travis, and J M Allan J Med Genet 2008; 45: 142-146. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 24 October 2007. doi:10.1136/jmg.2007.053850

	Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation E Rossi, M Riegel, J Messa, S Gimelli, P Maraschio, R Ciccone, M Stroppi, P Riva, C S Perrotta, T Mattina, L Memo, A Baumer, V Kucinskas, C Castellan, A Schinzel, and O Zuffardi J Med Genet 2008; 45: 147-154. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 November 2007. doi:10.1136/jmg.2007.054007

	A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts A Arora, P J Minogue, X Liu, P K Addison, I Russel-Eggitt, A R Webster, D M Hunt, L Ebihara, E C Beyer, V M Berthoud, and A T Moore J Med Genet 2008; 45: 155-160. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 November 2007. doi:10.1136/jmg.2007.051029

	*A novel missense mutation in GJB2* disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness** E A de Zwart-Storm, H Hamm, J Stoevesandt, P M Steijlen, P E Martin, M van Geel, and M A M van Steensel J Med Genet 2008; 45: 161-166. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 9 November 2007. doi:10.1136/jmg.2007.052332

	Severe neonatal manifestations of Costello syndrome I F M Lo, C Brewer, N Shannon, J Shorto, B Tang, G Black, M T Soo, D K K Ng, S T S Lam, and B Kerr J Med Genet 2008; 45: 167-171. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 26 November 2007. doi:10.1136/jmg.2007.054411

	Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy H Rosas-Vargas, N Bahi-Buisson, C Philippe, J Nectoux, B Girard, M A N’Guyen Morel, C Gitiaux, L Lazaro, S Odent, P Jonveaux, J Chelly, and T Bienvenu J Med Genet 2008; 45: 172-178. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 9 November 2007. doi:10.1136/jmg.2007.053504

	A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes D Z Loesch, M Cook, L Litewka, E Gould, A Churchyard, F Tassone, H R Slater, and E Storey J Med Genet 2008; 45: 179-181. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 5 December 2007. doi:10.1136/jmg.2007.054171

	Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness K Nozu, T Inagaki, X J Fu, Y Nozu, H Kaito, K Kanda, T Sekine, T Igarashi, K Nakanishi, N Yoshikawa, K Iijima, and M Matsuo J Med Genet 2008; 45: 182-186. doi:10.1136/jmg.2007.052944 [Abstract] [Full text] [PDF] [Request Permissions]

	Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum C Orellana, J Bernabeu, S Monfort, M Roselló, S Oltra, I Ferrer, R Quiroga, I Martínez-Garay, and F Martínez J Med Genet 2008; 45: 187-189. doi:10.1136/jmg.2007.054064 [Extract] [Full text] [PDF] [Request Permissions]

	The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15 E Chabchoub, J R Vermeesch, T de Ravel, P de Cock, and J-P Fryns J Med Genet 2008; 45: 189-192. doi:10.1136/jmg.2007.056176 [Extract] [Full text] [PDF] [Request Permissions]

	"SCA16" is really SCA15 R J M Gardner J Med Genet 2008; 45: 192. doi:10.1136/jmg.2007.056341 [Extract] [Full text] [PDF] [Request Permissions]