J Med Genet -- Table of Contents (45 [2])

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February 2008 (Volume 45, Number 2). [Index by author]

		Review Original articles Letters to JMG Mutation reports PostScript

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

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Review

General mutation databases: analysis and review
R A George, T D Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, M A Wouters, and R G H Cotton
J Med Genet 2008; 45: 65-70. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions]
Published Online First: 24 September 2007. doi:10.1136/jmg.2007.052639

Original articles

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
N M C Maas, G Van Buggenhout, F Hannes, B Thienpont, D Sanlaville, K Kok, A Midro, J Andrieux, B-M Anderlid, J Schoumans, R Hordijk, K Devriendt, J-P Fryns, and J R Vermeesch
J Med Genet 2008; 45: 71-80. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052910

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
K Osoegawa, G M Vessere, K H Utami, M A Mansilla, M K Johnson, B M Riley, J L’Heureux, R Pfundt, J Staaf, W A van der Vliet, A C Lidral, E F P M Schoenmakers, A Borg, B C Schutte, E J Lammer, J C Murray, and P J de Jong
J Med Genet 2008; 45: 81-86. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052191

Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel
L Ocaka, C Zhao, J A Reed, N D Ebenezer, G Brice, T Morley, M Mehta, J O’Dowd, J L Weber, A J Hardcastle, and A H Child
J Med Genet 2008; 45: 87-92. [Abstract] [Full text] [web only figures] [PDF] [Request Permissions]
Published Online First: 11 October 2007. doi:10.1136/jmg.2007.051896

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
M M Hagleitner, A Lankester, P Maraschio, M Hultén, J P Fryns, C Schuetz, G Gimelli, E G Davies, A Gennery, B H Belohradsky, R de Groot, E J A Gerritsen, T Mattina, P J Howard, A Fasth, I Reisli, D Furthner, M A Slatter, A J Cant, G Cazzola, P J van Dijken, M van Deuren, J C de Greef, S M van der Maarel, and C M R Weemaes
J Med Genet 2008; 45: 93-99. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 24 September 2007. doi:10.1136/jmg.2007.053397

Letters to JMG

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal
E J Marco, F E Abidi, J Bristow, W B Dean, P Cotter, R J Jeremy, C E Schwartz, and E H Sherr
J Med Genet 2008; 45: 100-105. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 24 September 2007. doi:10.1136/jmg.2007.052324

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
R H Scott, J Douglas, L Baskcomb, A O Nygren, J M Birch, T R Cole, V Cormier-Daire, D M Eastwood, S Garcia-Minaur, P Lupunzina, K Tatton-Brown, J Bliek, E R Maher, and N Rahman
J Med Genet 2008; 45: 106-113. [Abstract] [Full text] [web only table] [PDF] [Request Permissions]
Published Online First: 15 October 2007. doi:10.1136/jmg.2007.053207

Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease
N Wolf, M Quaranta, N J Prescott, M Allen, R Smith, A D Burden, J Worthington, C E M Griffiths, C G Mathew, J N Barker, F Capon, and R C Trembath
J Med Genet 2008; 45: 114-116. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 9 November 2007. doi:10.1136/jmg.2007.053595

Mutation reports

Isolated cytochrome c oxidase deficiency as a cause of MELAS
W Rossmanith, M Freilinger, J Roka, T Raffelsberger, K Moser-Thier, D Prayer, G Bernert, and R E Bittner
J Med Genet 2008; 45: 117-121. doi:10.1136/jmg.2007.052076 [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]

PostScript

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis
N de Leeuw, R Pfundt, D A Koolen, I Neefs, I Scheltinga, H Mieloo, E A Sistermans, W Nillesen, D F Smeets, B B A de Vries, and N V A M Knoers
J Med Genet 2008; 45: 122-124. doi:10.1136/jmg.2007.054049 [Extract] [Full text] [PDF] [Request Permissions]

Human Gene Mutation Database: towards a comprehensive central mutation database
P D Stenson, E Ball, K Howells, A Phillips, M Mort, and D N Cooper
J Med Genet 2008; 45: 124-126. doi:10.1136/jmg.2007.055210 [Extract] [Full text] [PDF] [Request Permissions]

Estimating risks of common complex diseases: familial and population risks
K Hemminki, A Försti, and J L Bermejo
J Med Genet 2008; 45: 126-127. doi:10.1136/jmg.2007.056325 [Extract] [Full text] [PDF] [Request Permissions]

SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family
A Sun, L Xu, S Wang, K Wang, W Huang, Y Wang, Y Zou, and J Ge
J Med Genet 2008; 45: 127-128. doi:10.1136/jmg.2007.056333 [Extract] [Full text] [PDF] [Request Permissions]

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	General mutation databases: analysis and review R A George, T D Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, M A Wouters, and R G H Cotton J Med Genet 2008; 45: 65-70. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions] Published Online First: 24 September 2007. doi:10.1136/jmg.2007.052639

	Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) N M C Maas, G Van Buggenhout, F Hannes, B Thienpont, D Sanlaville, K Kok, A Midro, J Andrieux, B-M Anderlid, J Schoumans, R Hordijk, K Devriendt, J-P Fryns, and J R Vermeesch J Med Genet 2008; 45: 71-80. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052910

	Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation K Osoegawa, G M Vessere, K H Utami, M A Mansilla, M K Johnson, B M Riley, J L’Heureux, R Pfundt, J Staaf, W A van der Vliet, A C Lidral, E F P M Schoenmakers, A Borg, B C Schutte, E J Lammer, J C Murray, and P J de Jong J Med Genet 2008; 45: 81-86. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052191

	Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel L Ocaka, C Zhao, J A Reed, N D Ebenezer, G Brice, T Morley, M Mehta, J O’Dowd, J L Weber, A J Hardcastle, and A H Child J Med Genet 2008; 45: 87-92. [Abstract] [Full text] [web only figures] [PDF] [Request Permissions] Published Online First: 11 October 2007. doi:10.1136/jmg.2007.051896

	Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) M M Hagleitner, A Lankester, P Maraschio, M Hultén, J P Fryns, C Schuetz, G Gimelli, E G Davies, A Gennery, B H Belohradsky, R de Groot, E J A Gerritsen, T Mattina, P J Howard, A Fasth, I Reisli, D Furthner, M A Slatter, A J Cant, G Cazzola, P J van Dijken, M van Deuren, J C de Greef, S M van der Maarel, and C M R Weemaes J Med Genet 2008; 45: 93-99. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 24 September 2007. doi:10.1136/jmg.2007.053397

	ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal E J Marco, F E Abidi, J Bristow, W B Dean, P Cotter, R J Jeremy, C E Schwartz, and E H Sherr J Med Genet 2008; 45: 100-105. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 24 September 2007. doi:10.1136/jmg.2007.052324

	Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation R H Scott, J Douglas, L Baskcomb, A O Nygren, J M Birch, T R Cole, V Cormier-Daire, D M Eastwood, S Garcia-Minaur, P Lupunzina, K Tatton-Brown, J Bliek, E R Maher, and N Rahman J Med Genet 2008; 45: 106-113. [Abstract] [Full text] [web only table] [PDF] [Request Permissions] Published Online First: 15 October 2007. doi:10.1136/jmg.2007.053207

	Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease N Wolf, M Quaranta, N J Prescott, M Allen, R Smith, A D Burden, J Worthington, C E M Griffiths, C G Mathew, J N Barker, F Capon, and R C Trembath J Med Genet 2008; 45: 114-116. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 9 November 2007. doi:10.1136/jmg.2007.053595

	Isolated cytochrome c oxidase deficiency as a cause of MELAS W Rossmanith, M Freilinger, J Roka, T Raffelsberger, K Moser-Thier, D Prayer, G Bernert, and R E Bittner J Med Genet 2008; 45: 117-121. doi:10.1136/jmg.2007.052076 [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]

	A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis N de Leeuw, R Pfundt, D A Koolen, I Neefs, I Scheltinga, H Mieloo, E A Sistermans, W Nillesen, D F Smeets, B B A de Vries, and N V A M Knoers J Med Genet 2008; 45: 122-124. doi:10.1136/jmg.2007.054049 [Extract] [Full text] [PDF] [Request Permissions]

	Human Gene Mutation Database: towards a comprehensive central mutation database P D Stenson, E Ball, K Howells, A Phillips, M Mort, and D N Cooper J Med Genet 2008; 45: 124-126. doi:10.1136/jmg.2007.055210 [Extract] [Full text] [PDF] [Request Permissions]

	Estimating risks of common complex diseases: familial and population risks K Hemminki, A Försti, and J L Bermejo J Med Genet 2008; 45: 126-127. doi:10.1136/jmg.2007.056325 [Extract] [Full text] [PDF] [Request Permissions]

	SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family A Sun, L Xu, S Wang, K Wang, W Huang, Y Wang, Y Zou, and J Ge J Med Genet 2008; 45: 127-128. doi:10.1136/jmg.2007.056333 [Extract] [Full text] [PDF] [Request Permissions]

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