J Med Genet -- Table of Contents (42 [12])

Subscribe here
Activate your subscription

Home > Volume 42, Number 12

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

Other Issues:
December 2005 (Volume 42, Number 12). [Index by author]

		Reviews Original articles Short reports Letters to JMG Corrections Electronic letters

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

Table of Contents (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

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
N Chassaing, L Martin, P Calvas, M Le Bert, and A Hovnanian
J Med Genet 2005; 42: 881-892. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 May 2005. doi:10.1136/jmg.2004.030171

Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and ß cell failure
J R Porter and T G Barrett
J Med Genet 2005; 42: 893-902. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 16 March 2005. doi:10.1136/jmg.2005.030791

Methodological issues in longitudinal studies: vestibular schwannoma growth rates in neurofibromatosis 2
M E Baser, V-F Mautner, D M Parry, and D G R Evans
J Med Genet 2005; 42: 903-906. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 April 2005. doi:10.1136/jmg.2005.031302

Original articles

POMT2 mutations cause ${alpha}$ -dystroglycan hypoglycosylation and Walker-Warburg syndrome
J van Reeuwijk, M Janssen, C van den Elzen, D Beltran-Valero de Bernabé, P Sabatelli, L Merlini, M Boon, H Scheffer, M Brockington, F Muntoni, M A Huynen, A Verrips, C A Walsh, P G Barth, H G Brunner, and H van Bokhoven
J Med Genet 2005; 42: 907-912. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 May 2005. doi:10.1136/jmg.2005.031963

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype
U Moog, M C Jones, L M Bird, and W B Dobyns
J Med Genet 2005; 42: 913-921. [Abstract] [Full text] [Web-only figures] [PDF] [Request Permissions]
Published Online First: 6 May 2005. doi:10.1136/jmg.2005.031369

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing ${alpha}$ - and ß-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
C L Harteveld, A Voskamp, M Phylipsen, N Akkermans, J T den Dunnen, S J White, and P C Giordano
J Med Genet 2005; 42: 922-931. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 May 2005. doi:10.1136/jmg.2005.033597

A male-specific quantitative trait locus on 1p21 controlling human stature
S Sammalisto, T Hiekkalinna, E Suviolahti, K Sood, A Metzidis, P Pajukanta, H E Lilja, A Soro-Paavonen, M-R Taskinen, T Tuomi, P Almgren, M Orho-Melander, L Groop, L Peltonen, and M Perola
J Med Genet 2005; 42: 932-939. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 April 2005. doi:10.1136/jmg.2005.031278

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10
E Rampersaud, A G Bassuk, D S Enterline, T M George, D G Siegel, E C Melvin, J Aben, J Allen, A Aylsworth, T Brei, J Bodurtha, C Buran, L E Floyd, P Hammock, B Iskandar, J Ito, J A Kessler, N Lasarsky, P Mack, J Mackey, D McLone, E Meeropol, L Mehltretter, L E Mitchell, W J Oakes, J S Nye, C Powell, K Sawin, R Stevenson, M Walker, S G West, G Worley, J R Gilbert, and M C Speer
J Med Genet 2005; 42: 940-946. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 April 2005. doi:10.1136/jmg.2005.031658

Short reports

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus
D Audenaert, L Claes, K G Claeys, L Deprez, T Van Dyck, D Goossens, J Del-Favero, W Van Paesschen, C Van Broeckhoven, and P De Jonghe
J Med Genet 2005; 42: 947-952. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 April 2005. doi:10.1136/jmg.2005.031393

Letters to JMG

Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome
G Holmgren, U Hellman, H-E Lundgren, O Sandgren, and O B Suhr
J Med Genet 2005; 42: 953-956. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 1 June 2005. doi:10.1136/jmg.2005.033720

More evidence for non-maternal inheritance of mitochondrial DNA?
H-J Bandelt, Q-P Kong, W Parson, and A Salas
J Med Genet 2005; 42: 957-960. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 May 2005. doi:10.1136/jmg.2005.033589

Corrections

CORRECTION
J Med Genet 2005; 42: 952. doi:10.1136/jmg.2005.27433corr1 [Extract] [Full text] [Web-only figures] [PDF] [Request Permissions]

Electronic letters

Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs
E Rampersaud, W K Scott, E R Hauser, and M C Speer
J Med Genet 2005; 42: e68. doi:10.1136/jmg.2005.032029 [Abstract] [Full text] [PDF] [Request Permissions]

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
R Gooding, J Colomer, R King, D Angelicheva, L Marns, Y Parman, D Chandler, J Bertranpetit, and L Kalaydjieva
J Med Genet 2005; 42: e69. doi:10.1136/jmg.2005.034132 [Abstract] [Full text] [PDF] [Request Permissions]

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder
E Kinning, C Tufarelli, W S Winship, M A Aldred, and R C Trembath
J Med Genet 2005; 42: e70. doi:10.1136/jmg.2005.033829 [Abstract] [Full text] [Web-only tables] [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 >>

	*Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6* mutations** N Chassaing, L Martin, P Calvas, M Le Bert, and A Hovnanian J Med Genet 2005; 42: 881-892. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 May 2005. doi:10.1136/jmg.2004.030171

	Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and ß cell failure J R Porter and T G Barrett J Med Genet 2005; 42: 893-902. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 16 March 2005. doi:10.1136/jmg.2005.030791

	Methodological issues in longitudinal studies: vestibular schwannoma growth rates in neurofibromatosis 2 M E Baser, V-F Mautner, D M Parry, and D G R Evans J Med Genet 2005; 42: 903-906. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 April 2005. doi:10.1136/jmg.2005.031302

	POMT2 mutations cause ${alpha}$ -dystroglycan hypoglycosylation and Walker-Warburg syndrome J van Reeuwijk, M Janssen, C van den Elzen, D Beltran-Valero de Bernabé, P Sabatelli, L Merlini, M Boon, H Scheffer, M Brockington, F Muntoni, M A Huynen, A Verrips, C A Walsh, P G Barth, H G Brunner, and H van Bokhoven J Med Genet 2005; 42: 907-912. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 May 2005. doi:10.1136/jmg.2005.031963

	Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype U Moog, M C Jones, L M Bird, and W B Dobyns J Med Genet 2005; 42: 913-921. [Abstract] [Full text] [Web-only figures] [PDF] [Request Permissions] Published Online First: 6 May 2005. doi:10.1136/jmg.2005.031369

	Nine unknown rearrangements in 16p13.3 and 11p15.4 causing ${alpha}$ - and ß-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification C L Harteveld, A Voskamp, M Phylipsen, N Akkermans, J T den Dunnen, S J White, and P C Giordano J Med Genet 2005; 42: 922-931. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 May 2005. doi:10.1136/jmg.2005.033597

	A male-specific quantitative trait locus on 1p21 controlling human stature S Sammalisto, T Hiekkalinna, E Suviolahti, K Sood, A Metzidis, P Pajukanta, H E Lilja, A Soro-Paavonen, M-R Taskinen, T Tuomi, P Almgren, M Orho-Melander, L Groop, L Peltonen, and M Perola J Med Genet 2005; 42: 932-939. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 12 April 2005. doi:10.1136/jmg.2005.031278

	Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10 E Rampersaud, A G Bassuk, D S Enterline, T M George, D G Siegel, E C Melvin, J Aben, J Allen, A Aylsworth, T Brei, J Bodurtha, C Buran, L E Floyd, P Hammock, B Iskandar, J Ito, J A Kessler, N Lasarsky, P Mack, J Mackey, D McLone, E Meeropol, L Mehltretter, L E Mitchell, W J Oakes, J S Nye, C Powell, K Sawin, R Stevenson, M Walker, S G West, G Worley, J R Gilbert, and M C Speer J Med Genet 2005; 42: 940-946. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 April 2005. doi:10.1136/jmg.2005.031658

	A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus D Audenaert, L Claes, K G Claeys, L Deprez, T Van Dyck, D Goossens, J Del-Favero, W Van Paesschen, C Van Broeckhoven, and P De Jonghe J Med Genet 2005; 42: 947-952. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 12 April 2005. doi:10.1136/jmg.2005.031393

	Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome G Holmgren, U Hellman, H-E Lundgren, O Sandgren, and O B Suhr J Med Genet 2005; 42: 953-956. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 1 June 2005. doi:10.1136/jmg.2005.033720

	More evidence for non-maternal inheritance of mitochondrial DNA? H-J Bandelt, Q-P Kong, W Parson, and A Salas J Med Genet 2005; 42: 957-960. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 May 2005. doi:10.1136/jmg.2005.033589

	CORRECTION J Med Genet 2005; 42: 952. doi:10.1136/jmg.2005.27433corr1 [Extract] [Full text] [Web-only figures] [PDF] [Request Permissions]

	Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs E Rampersaud, W K Scott, E R Hauser, and M C Speer J Med Genet 2005; 42: e68. doi:10.1136/jmg.2005.032029 [Abstract] [Full text] [PDF] [Request Permissions]

	A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes R Gooding, J Colomer, R King, D Angelicheva, L Marns, Y Parman, D Chandler, J Bertranpetit, and L Kalaydjieva J Med Genet 2005; 42: e69. doi:10.1136/jmg.2005.034132 [Abstract] [Full text] [PDF] [Request Permissions]

	Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder E Kinning, C Tufarelli, W S Winship, M A Aldred, and R C Trembath J Med Genet 2005; 42: e70. doi:10.1136/jmg.2005.033829 [Abstract] [Full text] [Web-only tables] [PDF] [Request Permissions]