J Med Genet -- Table of Contents (44 [8])

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August 2007 (Volume 44, Number 8). [Index by author]

		Original articles Short reports Letters to JMG Miscellaneous Correspondence

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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

Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
S Sharif, A Moran, S M Huson, R Iddenden, A Shenton, E Howard, and D G R Evans
J Med Genet 2007; 44: 481-484. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 16 March 2007. doi:10.1136/jmg.2007.049346

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon- ${gamma}$ receptor 1 and has a dominant-negative effect on interferon- ${gamma}$ signal transduction
Satoshi Okada, Nobutsune Ishikawa, Ken’ichiro Shirao, Hiroshi Kawaguchi, Miyuki Tsumura, Yoshinori Ohno, Shin’ichiro Yasunaga, Motoaki Ohtsubo, Yoshihiro Takihara, and Masao Kobayashi
J Med Genet 2007; 44: 485-491. [Abstract] [Full text] [web only figure] [PDF] [Request Permissions]
Published Online First: 18 May 2007. doi:10.1136/jmg.2007.049635

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
Anthony Donsante, Jingrong Tang, Sarah C Godwin, Courtney S Holmes, David S Goldstein, Alexander Bassuk, and Stephen G Kaler
J Med Genet 2007; 44: 492-497. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 May 2007. doi:10.1136/jmg.2007.050013

Coordinated transcriptional regulation patterns associated with infertility phenotypes in men
Peter J I Ellis, Robert A Furlong, Sarah J Conner, Jackson Kirkman-Brown, Masoud Afnan, Christopher Barratt, Darren K Griffin, and Nabeel A Affara
J Med Genet 2007; 44: 498-508. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 May 2007. doi:10.1136/jmg.2007.049650

A functional CD86 polymorphism associated with asthma and related allergic disorders
Thomas Juhl Corydon, Annette Haagerup, Thomas Gryesten Jensen, Helle Glud Binderup, Mikkel Steen Petersen, Keld Kaltoft, Jørgen Vestbo, Torben Arvid Kruse, and Anders Dupont Børglum
J Med Genet 2007; 44: 509-515. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 18 May 2007. doi:10.1136/jmg.2007.049536

Short reports

Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics
J Barwell, L Pangon, S Hodgson, A Georgiou, I Kesterton, T Slade, M Taylor, S J Payne, H Brinkman, J Smythe, N J Sebire, E Solomon, Z Docherty, R Camplejohn, T Homfray, and J R Morris
J Med Genet 2007; 44: 516-520. [Abstract] [Full text] [web only figure] [PDF] [Request Permissions]
Published Online First: 4 May 2007. doi:10.1136/jmg.2006.048660

Letters to JMG

Unexplained autism is frequently associated with low-level mosaic aneuploidy
Y B Yurov, S G Vorsanova, I Y Iourov, I A Demidova, A K Beresheva, V S Kravetz, V V Monakhov, A D Kolotii, V Y Voinova-Ulas, and N L Gorbachevskaya
J Med Genet 2007; 44: 521-525. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 4 May 2007. doi:10.1136/jmg.2007.049312

Association of arginase 1 gene polymorphisms with the risk of myocardial infarction and common carotid intima–media thickness
Julie Dumont, Mahmoud Zureik, Dominique Cottel, Michèle Montaye, Pierre Ducimetière, Philippe Amouyel, and Thierry Brousseau
J Med Genet 2007; 44: 526-531. [Abstract] [Full text] [web only figure] [PDF] [Request Permissions]
Published Online First: 16 March 2007. doi:10.1136/jmg.2006.047449

Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case–control and family-based studies
Xingqun Ni, Jose Valente, Maria H Azevedo, Michelle T Pato, Carlos N Pato, and James L Kennedy
J Med Genet 2007; 44: 532-536. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 5 April 2007. doi:10.1136/jmg.2006.047944

Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions
J Andrieux, C Villenet, S Quief, S Lignon, S Geffroy, C Roumier, H de Leersnyder, M-C de Blois, S Manouvrier, B Delobel, B Benzacken, P Bitoun, T Attie-Bitach, S Thomas, S Lyonnet, M Vekemans, and J-P Kerckaert
J Med Genet 2007; 44: 537-540. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 27 April 2007. doi:10.1136/jmg.2006.048736

Pregnancy does not influence colonic polyp multiplicity but may modulate upper gastrointestinal disease in patients with FAP
Nirosha Suraweera, Andrew Latchford, Amy McCart, Pauline Rogers, Sarah Spain, Oliver Sieber, Robin Phillips, Ian Tomlinson, and Andrew Silver
J Med Genet 2007; 44: 541-544. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 May 2007. doi:10.1136/jmg.2007.049965

Miscellaneous

Correction
J Med Genet 2007; 44: 544. doi:10.1136/jmg.2006.045765corr1 [Extract] [Full text] [PDF] [Request Permissions]

Correspondence

BRCA phenocopies or ascertainment bias?
David Goldgar, Vickie Venne, Tom Conner, and Saundra Buys
J Med Genet 2007; 44: e86. [Extract] [Full text] [PDF] [Request Permissions]

Phenocopies: actual risk or self-fulfilling prophecy?
Francois Eisinger
J Med Genet 2007; 44: e87. [Extract] [Full text] [PDF] [Request Permissions]

Response to correspondence on "Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening"
A Smith, M C Boyd, M Bulman, A Shenton, F Lalloo, D G R Evans, A Moran, R Iddenden, L Smith, E R Woodward, and E R Maher
J Med Genet 2007; 44: e88. doi:10.1136/jmg.2007.051722 [Extract] [Full text] [PDF] [Request Permissions]

A prospective study of breast cancer risk in relatives of BRCA1/BRCA2 mutation carriers
Erica Rowan, Aletta Poll, and Steven A Narod
J Med Genet 2007; 44: e89. [Extract] [Full text] [PDF] [Request Permissions]

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	Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening S Sharif, A Moran, S M Huson, R Iddenden, A Shenton, E Howard, and D G R Evans J Med Genet 2007; 44: 481-484. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 16 March 2007. doi:10.1136/jmg.2007.049346

	*The novel IFNGR1* mutation 774del4 produces a truncated form of interferon- ${gamma}$ receptor 1 and has a dominant-negative effect on interferon- ${gamma}$ signal transduction** Satoshi Okada, Nobutsune Ishikawa, Ken’ichiro Shirao, Hiroshi Kawaguchi, Miyuki Tsumura, Yoshinori Ohno, Shin’ichiro Yasunaga, Motoaki Ohtsubo, Yoshihiro Takihara, and Masao Kobayashi J Med Genet 2007; 44: 485-491. [Abstract] [Full text] [web only figure] [PDF] [Request Permissions] Published Online First: 18 May 2007. doi:10.1136/jmg.2007.049635

	Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome Anthony Donsante, Jingrong Tang, Sarah C Godwin, Courtney S Holmes, David S Goldstein, Alexander Bassuk, and Stephen G Kaler J Med Genet 2007; 44: 492-497. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 May 2007. doi:10.1136/jmg.2007.050013

	Coordinated transcriptional regulation patterns associated with infertility phenotypes in men Peter J I Ellis, Robert A Furlong, Sarah J Conner, Jackson Kirkman-Brown, Masoud Afnan, Christopher Barratt, Darren K Griffin, and Nabeel A Affara J Med Genet 2007; 44: 498-508. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 May 2007. doi:10.1136/jmg.2007.049650

	A functional CD86 polymorphism associated with asthma and related allergic disorders Thomas Juhl Corydon, Annette Haagerup, Thomas Gryesten Jensen, Helle Glud Binderup, Mikkel Steen Petersen, Keld Kaltoft, Jørgen Vestbo, Torben Arvid Kruse, and Anders Dupont Børglum J Med Genet 2007; 44: 509-515. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 18 May 2007. doi:10.1136/jmg.2007.049536

	Unexplained autism is frequently associated with low-level mosaic aneuploidy Y B Yurov, S G Vorsanova, I Y Iourov, I A Demidova, A K Beresheva, V S Kravetz, V V Monakhov, A D Kolotii, V Y Voinova-Ulas, and N L Gorbachevskaya J Med Genet 2007; 44: 521-525. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 4 May 2007. doi:10.1136/jmg.2007.049312

	Association of arginase 1 gene polymorphisms with the risk of myocardial infarction and common carotid intima–media thickness Julie Dumont, Mahmoud Zureik, Dominique Cottel, Michèle Montaye, Pierre Ducimetière, Philippe Amouyel, and Thierry Brousseau J Med Genet 2007; 44: 526-531. [Abstract] [Full text] [web only figure] [PDF] [Request Permissions] Published Online First: 16 March 2007. doi:10.1136/jmg.2006.047449

	Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case–control and family-based studies Xingqun Ni, Jose Valente, Maria H Azevedo, Michelle T Pato, Carlos N Pato, and James L Kennedy J Med Genet 2007; 44: 532-536. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 5 April 2007. doi:10.1136/jmg.2006.047944

	Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions J Andrieux, C Villenet, S Quief, S Lignon, S Geffroy, C Roumier, H de Leersnyder, M-C de Blois, S Manouvrier, B Delobel, B Benzacken, P Bitoun, T Attie-Bitach, S Thomas, S Lyonnet, M Vekemans, and J-P Kerckaert J Med Genet 2007; 44: 537-540. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 27 April 2007. doi:10.1136/jmg.2006.048736

	Pregnancy does not influence colonic polyp multiplicity but may modulate upper gastrointestinal disease in patients with FAP Nirosha Suraweera, Andrew Latchford, Amy McCart, Pauline Rogers, Sarah Spain, Oliver Sieber, Robin Phillips, Ian Tomlinson, and Andrew Silver J Med Genet 2007; 44: 541-544. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 May 2007. doi:10.1136/jmg.2007.049965

	Correction J Med Genet 2007; 44: 544. doi:10.1136/jmg.2006.045765corr1 [Extract] [Full text] [PDF] [Request Permissions]

	BRCA phenocopies or ascertainment bias? David Goldgar, Vickie Venne, Tom Conner, and Saundra Buys J Med Genet 2007; 44: e86. [Extract] [Full text] [PDF] [Request Permissions]

	Phenocopies: actual risk or self-fulfilling prophecy? Francois Eisinger J Med Genet 2007; 44: e87. [Extract] [Full text] [PDF] [Request Permissions]

	Response to correspondence on "Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening" A Smith, M C Boyd, M Bulman, A Shenton, F Lalloo, D G R Evans, A Moran, R Iddenden, L Smith, E R Woodward, and E R Maher J Med Genet 2007; 44: e88. doi:10.1136/jmg.2007.051722 [Extract] [Full text] [PDF] [Request Permissions]

	A prospective study of breast cancer risk in relatives of BRCA1/BRCA2 mutation carriers Erica Rowan, Aletta Poll, and Steven A Narod J Med Genet 2007; 44: e89. [Extract] [Full text] [PDF] [Request Permissions]