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March 2006 (Volume 43, Number 3). [Index by author]

		Reviews Commentaries Original articles Short reports Letters to JMG Book reviews Correction Electronic letters

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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.

Reviews

X linked mental retardation: a clinical guide
F L Raymond
J Med Genet 2006; 43: 193-200. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 23 August 2005. doi:10.1136/jmg.2005.033043

Commentaries

Battle of the BRCA1/BRCA2 (offspring) sex ratios: truth or consequences
D M Agnese
J Med Genet 2006; 43: 201-202. [Extract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 July 2005. doi:10.1136/jmg.2004.028977

Original articles

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
L Basel-Vanagaite, R Attia, M Yahav, R J Ferland, L Anteki, C A Walsh, T Olender, R Straussberg, N Magal, E Taub, V Drasinover, A Alkelai, D Bercovich, G Rechavi, A J Simon, and M Shohat
J Med Genet 2006; 43: 203-210. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 July 2005. doi:10.1136/jmg.2005.035709

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
D Sanlaville, H C Etchevers, M Gonzales, J Martinovic, M Clément-Ziza, A-L Delezoide, M-C Aubry, A Pelet, S Chemouny, C Cruaud, S Audollent, C Esculpavit, G Goudefroye, C Ozilou, C Fredouille, N Joye, N Morichon-Delvallez, Y Dumez, J Weissenbach, A Munnich, J Amiel, F Encha-Razavi, S Lyonnet, M Vekemans, and T Attié-Bitach
J Med Genet 2006; 43: 211-317. [Abstract] [Full text] [Web-only appendix] [PDF] [Request Permissions]
Published Online First: 16 September 2005. doi:10.1136/jmg.2005.036160

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability
E Seemanová, K Sperling, H Neitzel, R Varon, J Hadac, O Butova, E Schröck, P Seeman, and M Digweed
J Med Genet 2006; 43: 218-224. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 July 2005. doi:10.1136/jmg.2005.035287

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
K W Kjaer, H Eiberg, L Hansen, C B van der Hagen, K Rosendahl, N Tommerup, and S Mundlos
J Med Genet 2006; 43: 225-231. [Abstract] [Full text] [Web-only figure] [PDF] [Request Permissions]
Published Online First: 13 July 2005. doi:10.1136/jmg.2005.034058

Short reports

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation
P Gómez-Garre, M Seijo, E Gutiérrez-Delicado, M Castro del Río, C de la Torre, C Gómez-Abad, J Morales-Corraliza, M Puig, and J M Serratosa
J Med Genet 2006; 43: 232-237. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 1 July 2005. doi:10.1136/jmg.2004.029173

Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
J Crawford, K M Lower, R C M Hennekam, H Van Esch, A Mégarbané, S A Lynch, G Turner, and J Gécz
J Med Genet 2006; 43: 238-243. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 1 July 2005. doi:10.1136/jmg.2005.033084

Letters to JMG

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis
J Steffann, N Frydman, N Gigarel, P Burlet, P F Ray, R Fanchin, E Feyereisen, V Kerbrat, G Tachdjian, J-P Bonnefont, R Frydman, and A Munnich
J Med Genet 2006; 43: 244-247. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 9 September 2005. doi:10.1136/jmg.2005.032326

Congenital hyperinsulinism and mosaic abnormalities of the ploidy
I Giurgea, D Sanlaville, J-C Fournet, C Sempoux, C Bellanné-Chantelot, G Touati, L Hubert, M-S Groos, F Brunelle, J Rahier, J-C Henquin, M J Dunne, F Jaubert, J-J Robert, C Nihoul-Fékété, M Vekemans, C Junien, and P de Lonlay
J Med Genet 2006; 43: 248-254. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 July 2005. doi:10.1136/jmg.2005.034116

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
Z Szabo, M W Crepeau, A L Mitchell, M J Stephan, R A Puntel, K Yin Loke, R C Kirk, and Z Urban
J Med Genet 2006; 43: 255-258. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 5 August 2005. doi:10.1136/jmg.2005.034157

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
C Depienne, C Tallaksen, J Y Lephay, B Bricka, S Poea-Guyon, B Fontaine, P Labauge, A Brice, and A Durr
J Med Genet 2006; 43: 259-265. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 31 July 2005. doi:10.1136/jmg.2005.035311

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
C Howald, G Merla, M C Digilio, S Amenta, R Lyle, S Deutsch, U Choudhury, A Bottani, S E Antonarakis, H Fryssira, B Dallapiccola, and A Reymond
J Med Genet 2006; 43: 266-273. [Abstract] [Full text] [Web-only figures] [PDF] [Request Permissions]
Published Online First: 1 July 2005. doi:10.1136/jmg.2005.034009

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
M Naeem, M Wajid, K Lee, S M Leal, and W Ahmad
J Med Genet 2006; 43: 274-279. doi:10.1136/jmg.2005.033381 [Abstract] [Full text] [PDF] [Request Permissions]

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins
D Johnson, N Morrison, L Grant, T Turner, J Fantes, J M Connor, and V Murday
J Med Genet 2006; 43: 280-284. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 23 August 2005. doi:10.1136/jmg.2005.032946

Age associated increase in the prevalence of chromosome 22q loss of heterozygosity in histological subsets of benign meningioma
M E Baser and T Y Poussaint
J Med Genet 2006; 43: 285-287. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 24 June 2005. doi:10.1136/jmg.2005.035162

Book reviews

Genetic Disorders of the Indian Subcontinent
Y Yamada
J Med Genet 2006; 43: 288. doi:10.1136/jmg.2005.035618 [Extract] [Full text] [PDF] [Request Permissions]

Correction

CORRECTION
J Med Genet 2006; 43: 243. doi:10.1136/jmg.2005.031369corr1 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

Highly significant linkage to chromosome 3q13.31 for rhinitis and related allergic diseases
C Brasch-Andersen, A Haagerup, A D Børglum, J Vestbo, and T A Kruse
J Med Genet 2006; 43: e10. doi:10.1136/jmg.2005.035519 [Abstract] [Full text] [PDF] [Request Permissions]

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3
W-M Chan, E I Traboulsi, B Arthur, N Friedman, C Andrews, and E C Engle
J Med Genet 2006; 43: e11. doi:10.1136/jmg.2005.035436 [Abstract] [Full text] [PDF] [Request Permissions]

Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14
J V Warner, D R Nyholt, F Busfield, M Epstein, J Burgess, S Stranks, P Hill, D Perry-Keene, D Learoyd, B Robinson, B T Teh, J B Prins, and J W Cardinal
J Med Genet 2006; 43: e12. doi:10.1136/jmg.2005.035766 [Abstract] [Full text] [PDF] [Request Permissions]

Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function
X Cao, K W Eu, M P Kumarasinghe, H H Li, C Loi, and P Y Cheah
J Med Genet 2006; 43: e13. doi:10.1136/jmg.2005.034827 [Abstract] [Full text] [PDF] [Request Permissions]

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	X linked mental retardation: a clinical guide F L Raymond J Med Genet 2006; 43: 193-200. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 23 August 2005. doi:10.1136/jmg.2005.033043

	*Battle of the BRCA1/BRCA2* (offspring) sex ratios: truth or consequences** D M Agnese J Med Genet 2006; 43: 201-202. [Extract] [Full text] [PDF] [Request Permissions] Published Online First: 20 July 2005. doi:10.1136/jmg.2004.028977

	*The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation* L Basel-Vanagaite, R Attia, M Yahav, R J Ferland, L Anteki, C A Walsh, T Olender, R Straussberg, N Magal, E Taub, V Drasinover, A Alkelai, D Bercovich, G Rechavi, A J Simon, and M Shohat J Med Genet 2006; 43: 203-210. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 20 July 2005. doi:10.1136/jmg.2005.035709

	*Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7* truncating mutations correlates with expression during human development** D Sanlaville, H C Etchevers, M Gonzales, J Martinovic, M Clément-Ziza, A-L Delezoide, M-C Aubry, A Pelet, S Chemouny, C Cruaud, S Audollent, C Esculpavit, G Goudefroye, C Ozilou, C Fredouille, N Joye, N Morichon-Delvallez, Y Dumez, J Weissenbach, A Munnich, J Amiel, F Encha-Razavi, S Lyonnet, M Vekemans, and T Attié-Bitach J Med Genet 2006; 43: 211-317. [Abstract] [Full text] [Web-only appendix] [PDF] [Request Permissions] Published Online First: 16 September 2005. doi:10.1136/jmg.2005.036160

	Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability E Seemanová, K Sperling, H Neitzel, R Varon, J Hadac, O Butova, E Schröck, P Seeman, and M Digweed J Med Genet 2006; 43: 218-224. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 20 July 2005. doi:10.1136/jmg.2005.035287

	*A mutation in the receptor binding site of GDF5* causes Mohr-Wriedt brachydactyly type A2** K W Kjaer, H Eiberg, L Hansen, C B van der Hagen, K Rosendahl, N Tommerup, and S Mundlos J Med Genet 2006; 43: 225-231. [Abstract] [Full text] [Web-only figure] [PDF] [Request Permissions] Published Online First: 13 July 2005. doi:10.1136/jmg.2005.034058

	*Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA* mutation** P Gómez-Garre, M Seijo, E Gutiérrez-Delicado, M Castro del Río, C de la Torre, C Gómez-Abad, J Morales-Corraliza, M Puig, and J M Serratosa J Med Genet 2006; 43: 232-237. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 1 July 2005. doi:10.1136/jmg.2004.029173

	*Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6* mutation in a female patient** J Crawford, K M Lower, R C M Hennekam, H Van Esch, A Mégarbané, S A Lynch, G Turner, and J Gécz J Med Genet 2006; 43: 238-243. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 1 July 2005. doi:10.1136/jmg.2005.033084

	Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis J Steffann, N Frydman, N Gigarel, P Burlet, P F Ray, R Fanchin, E Feyereisen, V Kerbrat, G Tachdjian, J-P Bonnefont, R Frydman, and A Munnich J Med Genet 2006; 43: 244-247. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 9 September 2005. doi:10.1136/jmg.2005.032326

	Congenital hyperinsulinism and mosaic abnormalities of the ploidy I Giurgea, D Sanlaville, J-C Fournet, C Sempoux, C Bellanné-Chantelot, G Touati, L Hubert, M-S Groos, F Brunelle, J Rahier, J-C Henquin, M J Dunne, F Jaubert, J-J Robert, C Nihoul-Fékété, M Vekemans, C Junien, and P de Lonlay J Med Genet 2006; 43: 248-254. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 20 July 2005. doi:10.1136/jmg.2005.034116

	Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene Z Szabo, M W Crepeau, A L Mitchell, M J Stephan, R A Puntel, K Yin Loke, R C Kirk, and Z Urban J Med Genet 2006; 43: 255-258. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 5 August 2005. doi:10.1136/jmg.2005.034157

	Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases C Depienne, C Tallaksen, J Y Lephay, B Bricka, S Poea-Guyon, B Fontaine, P Labauge, A Brice, and A Durr J Med Genet 2006; 43: 259-265. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 31 July 2005. doi:10.1136/jmg.2005.035311

	Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions C Howald, G Merla, M C Digilio, S Amenta, R Lyle, S Deutsch, U Choudhury, A Bottani, S E Antonarakis, H Fryssira, B Dallapiccola, and A Reymond J Med Genet 2006; 43: 266-273. [Abstract] [Full text] [Web-only figures] [PDF] [Request Permissions] Published Online First: 1 July 2005. doi:10.1136/jmg.2005.034009

	A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type M Naeem, M Wajid, K Lee, S M Leal, and W Ahmad J Med Genet 2006; 43: 274-279. doi:10.1136/jmg.2005.033381 [Abstract] [Full text] [PDF] [Request Permissions]

	Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins D Johnson, N Morrison, L Grant, T Turner, J Fantes, J M Connor, and V Murday J Med Genet 2006; 43: 280-284. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 23 August 2005. doi:10.1136/jmg.2005.032946

	Age associated increase in the prevalence of chromosome 22q loss of heterozygosity in histological subsets of benign meningioma M E Baser and T Y Poussaint J Med Genet 2006; 43: 285-287. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 24 June 2005. doi:10.1136/jmg.2005.035162

	Genetic Disorders of the Indian Subcontinent Y Yamada J Med Genet 2006; 43: 288. doi:10.1136/jmg.2005.035618 [Extract] [Full text] [PDF] [Request Permissions]

	CORRECTION J Med Genet 2006; 43: 243. doi:10.1136/jmg.2005.031369corr1 [Extract] [Full text] [PDF] [Request Permissions]

	Highly significant linkage to chromosome 3q13.31 for rhinitis and related allergic diseases C Brasch-Andersen, A Haagerup, A D Børglum, J Vestbo, and T A Kruse J Med Genet 2006; 43: e10. doi:10.1136/jmg.2005.035519 [Abstract] [Full text] [PDF] [Request Permissions]

	Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3 W-M Chan, E I Traboulsi, B Arthur, N Friedman, C Andrews, and E C Engle J Med Genet 2006; 43: e11. doi:10.1136/jmg.2005.035436 [Abstract] [Full text] [PDF] [Request Permissions]

	Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14 J V Warner, D R Nyholt, F Busfield, M Epstein, J Burgess, S Stranks, P Hill, D Perry-Keene, D Learoyd, B Robinson, B T Teh, J B Prins, and J W Cardinal J Med Genet 2006; 43: e12. doi:10.1136/jmg.2005.035766 [Abstract] [Full text] [PDF] [Request Permissions]

	*Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A* loss of function** X Cao, K W Eu, M P Kumarasinghe, H H Li, C Loi, and P Y Cheah J Med Genet 2006; 43: e13. doi:10.1136/jmg.2005.034827 [Abstract] [Full text] [PDF] [Request Permissions]