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May 2006 (Volume 43, Number 5). [Index by author]

		Original articles Short reports Letters to JMG Book reviews Correction 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.

Original articles

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
K M Davey, J S Parboosingh, D R McLeod, A Chan, R Casey, P Ferreira, F F Snyder, P J Bridge, and F P Bernier
J Med Genet 2006; 43: 385-393. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 31 July 2005. doi:10.1136/jmg.2005.036657

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
S Tezenas du Montcel, F Clot, M Vidailhet, E Roze, P Damier, C P Jedynak, A Camuzat, A Lagueny, L Vercueil, D Doummar, L Guyant-Maréchal, J-L Houeto, G Ponsot, S Thobois, M-A Cournelle, A Durr, F Durif, B Echenne, D Hannequin, C Tranchant, A Brice, the French Dystonia Network
J Med Genet 2006; 43: 394-400. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 October 2005. doi:10.1136/jmg.2005.036780

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
B Kerr, M-A Delrue, S Sigaudy, R Perveen, M Marche, I Burgelin, M Stef, B Tang, O B Eden, J O’Sullivan, A De Sandre-Giovannoli, W Reardon, C Brewer, C Bennett, O Quarell, E M’Cann, D Donnai, F Stewart, R Hennekam, H Cavé, A Verloes, N Philip, D Lacombe, N Levy, B Arveiler, and G Black
J Med Genet 2006; 43: 401-405. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 January 2006. doi:10.1136/jmg.2005.040352

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
K P Hoornaert, C Dewinter, I Vereecke, F A Beemer, W Courtens, A Fryer, H Fryssira, M Lees, A Müllner-Eidenböck, D L Rimoin, L Siderius, A Superti-Furga, K Temple, P J Willems, A Zankl, C Zweier, A De Paepe, P Coucke, and G R Mortier
J Med Genet 2006; 43: 406-413. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 9 September 2005. doi:10.1136/jmg.2005.035717

The distribution of apolipoprotein E alleles in Scottish perinatal deaths
J-C Becher, J W Keeling, N McIntosh, B Wyatt, and J Bell
J Med Genet 2006; 43: 414-418. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 23 September 2005. doi:10.1136/jmg.2005.033936

Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus
L de Pontual, A Pelet, D Trochet, F Jaubert, Y Espinosa-Parrilla, A Munnich, J-F Brunet, C Goridis, J Feingold, S Lyonnet, and J Amiel
J Med Genet 2006; 43: 419-423. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 January 2006. doi:10.1136/jmg.2005.040113

Cancer risks in first degree relatives of BRCA1 mutation carriers: effects of mutation and proband disease status
J Gronwald, T Huzarski, B Byrski, K Medrek, J Menkiszak, A N Monteiro, P Sun, J Lubinski, and S A Narod
J Med Genet 2006; 43: 424-428. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 October 2005. doi:10.1136/jmg.2005.036921

Short reports

An inversion inv(4)(p12–p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster
J B Vincent, SI Horike, S Choufani, A D Paterson, W Roberts, P Szatmari, R Weksberg, B Fernandez, and S W Scherer
J Med Genet 2006; 43: 429-434. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 23 March 2006. doi:10.1136/jmg.2005.039693

Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
H Eiberg, L Hansen, B Kjer, T Hansen, O Pedersen, M Bille, T Rosenberg, and L Tranebjærg
J Med Genet 2006; 43: 435-440. doi:10.1136/jmg.2005.034892 [Abstract] [Full text] [PDF] [Request Permissions]

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia
A Bouhouche, A Benomar, N Bouslam, T Chkili, and M Yahyaoui
J Med Genet 2006; 43: 441-443. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 January 2006. doi:10.1136/jmg.2005.039230

A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21
M Ali, L J Highet, D Lacombe, C Goizet, M D King, U Tacke, M S van der Knaap, L Lagae, C Rittey, H G Brunner, H van Bokhoven, B Hamel, Y A Oade, A Sanchis, I Desguerre, D Cau, N Mathieu, M L Moutard, P Lebon, D Kumar, A P Jackson, and Y J Crow
J Med Genet 2006; 43: 444-450. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 May 2005. doi:10.1136/jmg.2005.031880

Letters to JMG

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
H L Archer, S D Whatley, J C Evans, D Ravine, P Huppke, A Kerr, D Bunyan, B Kerr, E Sweeney, S J Davies, W Reardon, J Horn, K D MacDermot, R A Smith, A Magee, A Donaldson, Y Crow, G Hermon, Z Miedzybrodzka, D N Cooper, L Lazarou, R Butler, J Sampson, D T Pilz, F Laccone, and A J Clarke
J Med Genet 2006; 43: 451-456. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 23 September 2005. doi:10.1136/jmg.2005.033464

Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter
C M C Maranduba, E C H Friesema, F Kok, M H A Kester, J Jansen, A L Sertié, M R Passos-Bueno, and T J Visser
J Med Genet 2006; 43: 457-460. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 24 June 2005. doi:10.1136/jmg.2005.035840

Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p
S Türkmen, O Demirhan, K Hoffmann, A Diers, C Zimmer, K Sperling, and S Mundlos
J Med Genet 2006; 43: 461-464. [Abstract] [Full text] [Web-only video] [PDF] [Request Permissions]
Published Online First: 21 December 2005. doi:10.1136/jmg.2005.040030

Book reviews

Oxford desk reference: clinical genetics
Ian Young
J Med Genet 2006; 43: 393. doi:10.1136/jmg.2005.038877 [Extract] [Full text] [PDF] [Request Permissions]

Correction

CORRECTION
J Med Genet 2006; 43: 418. doi:10.1136/jmg.2005.03468corr1 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome
E Volikos, J Robinson, K Aittomäki, J-P Mecklin, H Järvinen, A M Westerman, F W M de Rooji, T Vogel, G Moeslein, V Launonen, I P M Tomlinson, A R J Silver, and L A Aaltonen
J Med Genet 2006; 43: e18. doi:10.1136/jmg.2005.039875 [Abstract] [Full text] [PDF] [Request Permissions]

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture
R Ciccone, T Mattina, R Giorda, M C Bonaglia, M Rocchi, T Pramparo, and O Zuffardi
J Med Genet 2006; 43: e19. doi:10.1136/jmg.2005.037671 [Abstract] [Full text] [PDF] [Request Permissions]

Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1
Q Zhang, X Guo, X Xiao, X Jia, S Li, and J F Hejtmancik
J Med Genet 2006; 43: e20. doi:10.1136/jmg.2005.037853 [Abstract] [Full text] [Web-only figure] [PDF] [Request Permissions]

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism
Z Talebizadeh, D Y Lam, M F Theodoro, D C Bittel, G H Lushington, and M G Butler
J Med Genet 2006; 43: e21. doi:10.1136/jmg.2005.036897 [Abstract] [Full text] [PDF] [Request Permissions]

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
W Seifert, M Holder-Espinasse, S Spranger, M Hoeltzenbein, E Rossier, H Dollfus, D Lacombe, A Verloes, K H Chrzanowska, G H B Maegawa, D Chitayat, D Kotzot, D Huhle, P Meinecke, B Albrecht, I Mathijssen, B Leheup, K Raile, H C Hennies, and D Horn
J Med Genet 2006; 43: e22. doi:10.1136/jmg.2005.039867 [Abstract] [Full text] [PDF] [Request Permissions]

Online mutation reports

Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation
D O Robinson, A J Wills, S R Hammans, S P Read, and J Sillibourne
J Med Genet 2006; 43: e23. doi:10.1136/jmg.2005.037598 [Abstract] [Full text] [PDF] [Request Permissions]

Mutations responsible for Larsen syndrome cluster in the FLNB protein
D Zhang, J A Herring, S S Swaney, T B McClendon, X Gao, R H Browne, K E Rathjen, C E Johnston, S Harris, N M Cain, and C A Wise
J Med Genet 2006; 43: e24. doi:10.1136/jmg.2005.038695 [Abstract] [Full text] [PDF] [Request Permissions]

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	*Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition* K M Davey, J S Parboosingh, D R McLeod, A Chan, R Casey, P Ferreira, F F Snyder, P J Bridge, and F P Bernier J Med Genet 2006; 43: 385-393. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 31 July 2005. doi:10.1136/jmg.2005.036657

	Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes S Tezenas du Montcel, F Clot, M Vidailhet, E Roze, P Damier, C P Jedynak, A Camuzat, A Lagueny, L Vercueil, D Doummar, L Guyant-Maréchal, J-L Houeto, G Ponsot, S Thobois, M-A Cournelle, A Durr, F Durif, B Echenne, D Hannequin, C Tranchant, A Brice, the French Dystonia Network J Med Genet 2006; 43: 394-400. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 October 2005. doi:10.1136/jmg.2005.036780

	*Genotype-phenotype correlation in Costello syndrome: HRAS* mutation analysis in 43 cases** B Kerr, M-A Delrue, S Sigaudy, R Perveen, M Marche, I Burgelin, M Stef, B Tang, O B Eden, J O’Sullivan, A De Sandre-Giovannoli, W Reardon, C Brewer, C Bennett, O Quarell, E M’Cann, D Donnai, F Stewart, R Hennekam, H Cavé, A Verloes, N Philip, D Lacombe, N Levy, B Arveiler, and G Black J Med Genet 2006; 43: 401-405. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 January 2006. doi:10.1136/jmg.2005.040352

	The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene K P Hoornaert, C Dewinter, I Vereecke, F A Beemer, W Courtens, A Fryer, H Fryssira, M Lees, A Müllner-Eidenböck, D L Rimoin, L Siderius, A Superti-Furga, K Temple, P J Willems, A Zankl, C Zweier, A De Paepe, P Coucke, and G R Mortier J Med Genet 2006; 43: 406-413. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 9 September 2005. doi:10.1136/jmg.2005.035717

	The distribution of apolipoprotein E alleles in Scottish perinatal deaths J-C Becher, J W Keeling, N McIntosh, B Wyatt, and J Bell J Med Genet 2006; 43: 414-418. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 23 September 2005. doi:10.1136/jmg.2005.033936

	*Mutations of the RET* gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus** L de Pontual, A Pelet, D Trochet, F Jaubert, Y Espinosa-Parrilla, A Munnich, J-F Brunet, C Goridis, J Feingold, S Lyonnet, and J Amiel J Med Genet 2006; 43: 419-423. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 January 2006. doi:10.1136/jmg.2005.040113

	*Cancer risks in first degree relatives of BRCA1* mutation carriers: effects of mutation and proband disease status** J Gronwald, T Huzarski, B Byrski, K Medrek, J Menkiszak, A N Monteiro, P Sun, J Lubinski, and S A Narod J Med Genet 2006; 43: 424-428. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 October 2005. doi:10.1136/jmg.2005.036921

	An inversion inv(4)(p12–p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster J B Vincent, SI Horike, S Choufani, A D Paterson, W Roberts, P Szatmari, R Weksberg, B Fernandez, and S W Scherer J Med Genet 2006; 43: 429-434. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 23 March 2006. doi:10.1136/jmg.2005.039693

	*Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1* gene** H Eiberg, L Hansen, B Kjer, T Hansen, O Pedersen, M Bille, T Rosenberg, and L Tranebjærg J Med Genet 2006; 43: 435-440. doi:10.1136/jmg.2005.034892 [Abstract] [Full text] [PDF] [Request Permissions]

	Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia A Bouhouche, A Benomar, N Bouslam, T Chkili, and M Yahyaoui J Med Genet 2006; 43: 441-443. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 January 2006. doi:10.1136/jmg.2005.039230

	A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21 M Ali, L J Highet, D Lacombe, C Goizet, M D King, U Tacke, M S van der Knaap, L Lagae, C Rittey, H G Brunner, H van Bokhoven, B Hamel, Y A Oade, A Sanchis, I Desguerre, D Cau, N Mathieu, M L Moutard, P Lebon, D Kumar, A P Jackson, and Y J Crow J Med Genet 2006; 43: 444-450. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 20 May 2005. doi:10.1136/jmg.2005.031880

	*Gross rearrangements of the MECP2* gene are found in both classical and atypical Rett syndrome patients** H L Archer, S D Whatley, J C Evans, D Ravine, P Huppke, A Kerr, D Bunyan, B Kerr, E Sweeney, S J Davies, W Reardon, J Horn, K D MacDermot, R A Smith, A Magee, A Donaldson, Y Crow, G Hermon, Z Miedzybrodzka, D N Cooper, L Lazarou, R Butler, J Sampson, D T Pilz, F Laccone, and A J Clarke J Med Genet 2006; 43: 451-456. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 23 September 2005. doi:10.1136/jmg.2005.033464

	*Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8* thyroid hormone transporter** C M C Maranduba, E C H Friesema, F Kok, M H A Kester, J Jansen, A L Sertié, M R Passos-Bueno, and T J Visser J Med Genet 2006; 43: 457-460. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 24 June 2005. doi:10.1136/jmg.2005.035840

	Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p S Türkmen, O Demirhan, K Hoffmann, A Diers, C Zimmer, K Sperling, and S Mundlos J Med Genet 2006; 43: 461-464. [Abstract] [Full text] [Web-only video] [PDF] [Request Permissions] Published Online First: 21 December 2005. doi:10.1136/jmg.2005.040030

	Oxford desk reference: clinical genetics Ian Young J Med Genet 2006; 43: 393. doi:10.1136/jmg.2005.038877 [Extract] [Full text] [PDF] [Request Permissions]

	CORRECTION J Med Genet 2006; 43: 418. doi:10.1136/jmg.2005.03468corr1 [Extract] [Full text] [PDF] [Request Permissions]

	LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome E Volikos, J Robinson, K Aittomäki, J-P Mecklin, H Järvinen, A M Westerman, F W M de Rooji, T Vogel, G Moeslein, V Launonen, I P M Tomlinson, A R J Silver, and L A Aaltonen J Med Genet 2006; 43: e18. doi:10.1136/jmg.2005.039875 [Abstract] [Full text] [PDF] [Request Permissions]

	Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture R Ciccone, T Mattina, R Giorda, M C Bonaglia, M Rocchi, T Pramparo, and O Zuffardi J Med Genet 2006; 43: e19. doi:10.1136/jmg.2005.037671 [Abstract] [Full text] [PDF] [Request Permissions]

	Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1 Q Zhang, X Guo, X Xiao, X Jia, S Li, and J F Hejtmancik J Med Genet 2006; 43: e20. doi:10.1136/jmg.2005.037853 [Abstract] [Full text] [Web-only figure] [PDF] [Request Permissions]

	Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism Z Talebizadeh, D Y Lam, M F Theodoro, D C Bittel, G H Lushington, and M G Butler J Med Genet 2006; 43: e21. doi:10.1136/jmg.2005.036897 [Abstract] [Full text] [PDF] [Request Permissions]

	*Mutational spectrum of COH1* and clinical heterogeneity in Cohen syndrome** W Seifert, M Holder-Espinasse, S Spranger, M Hoeltzenbein, E Rossier, H Dollfus, D Lacombe, A Verloes, K H Chrzanowska, G H B Maegawa, D Chitayat, D Kotzot, D Huhle, P Meinecke, B Albrecht, I Mathijssen, B Leheup, K Raile, H C Hennies, and D Horn J Med Genet 2006; 43: e22. doi:10.1136/jmg.2005.039867 [Abstract] [Full text] [PDF] [Request Permissions]

	*Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1* gene triplet repeat expansion mutation** D O Robinson, A J Wills, S R Hammans, S P Read, and J Sillibourne J Med Genet 2006; 43: e23. doi:10.1136/jmg.2005.037598 [Abstract] [Full text] [PDF] [Request Permissions]

	Mutations responsible for Larsen syndrome cluster in the FLNB protein D Zhang, J A Herring, S S Swaney, T B McClendon, X Gao, R H Browne, K E Rathjen, C E Johnston, S Harris, N M Cain, and C A Wise J Med Genet 2006; 43: e24. doi:10.1136/jmg.2005.038695 [Abstract] [Full text] [PDF] [Request Permissions]