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September 2007 (Volume 44, Number 9). [Index by author]

		Reviews Original articles Short reports Letters to JMG Online mutation report

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

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Reviews

Cargos and genes: insights into vesicular transport from inherited human disease
Paul Gissen and Eamonn R Maher
J Med Genet 2007; 44: 545-555. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 25 May 2007. doi:10.1136/jmg.2007.050294

Original articles

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
Farah Zahir, Helen V Firth, Agnes Baross, Allen D Delaney, Patrice Eydoux, William T Gibson, Sylvie Langlois, Howard Martin, Lionel Willatt, Marco A Marra, and Jan M Friedman
J Med Genet 2007; 44: 556-561. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 1 June 2007. doi:10.1136/jmg.2007.050823

The C20orf133 gene is disrupted in a patient with Kabuki syndrome
Nicole M C Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Constance T R M Schrander-Stumpel, Damien Sanlaville, David Genevieve, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, Jean-Pierre Fryns, and Joris R Vermeesch
J Med Genet 2007; 44: 562-569. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 23 June 2007. doi:10.1136/jmg.2007.049510

Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment
E Van Eyken, G Van Camp, E Fransen, V Topsakal, J J Hendrickx, K Demeester, P Van de Heyning, E Mäki-Torkko, S Hannula, M Sorri, M Jensen, A Parving, M Bille, M Baur, M Pfister, A Bonaconsa, M Mazzoli, E Orzan, A Espeso, D Stephens, K Verbruggen, J Huyghe, I Dhooge, P Huygen, H Kremer, C W R J Cremers, S Kunst, M Manninen, I Pyykkö, A Lacava, M Steffens, T F Wienker, and L Van Laer
J Med Genet 2007; 44: 570-578. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 18 May 2007. doi:10.1136/jmg.2007.049205

Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers
K L Lachlan, A M Lucassen, D Bunyan, and I K Temple
J Med Genet 2007; 44: 579-585. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 25 May 2007. doi:10.1136/jmg.2007.049981

Short reports

Genetic screening for pheochromocytoma: should SDHC gene analysis be included?
M Mannelli, T Ercolino, V Giachè, L Simi, C Cirami, and G Parenti
J Med Genet 2007; 44: 586-587. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 June 2007. doi:10.1136/jmg.2007.051045

Letters to JMG

Mutations of the Birt–Hogg–Dubé gene in patients with multiple lung cysts and recurrent pneumothorax
Yoko Gunji, Taeko Akiyoshi, Teruhiko Sato, Masatoshi Kurihara, Shigeru Tominaga, Kazuhisa Takahashi, and Kuniaki Seyama
J Med Genet 2007; 44: 588-593. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 May 2007. doi:10.1136/jmg.2007.049874

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management
Wen-Hann Tan, Hagit N Baris, Patricia E Burrows, Caroline D Robson, Ahmad I Alomari, John B Mulliken, Steven J Fishman, and Mira B Irons
J Med Genet 2007; 44: 594-602. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 25 May 2007. doi:10.1136/jmg.2007.048934

Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension
Ana Carolina Braga Marçano, Beverley Burke, Johannie Gungadoo, Chris Wallace, Pamela J Kaisaki, Peng Y Woon, Martin Farrall, David Clayton, Morris Brown, Anna Dominiczak, John M Connell, John Webster, Mark Lathrop, Mark Caulfield, Nilesh Samani, Dominique Gauguier, and Patricia B Munroe
J Med Genet 2007; 44: 603-605. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 June 2007. doi:10.1136/jmg.2007.049718

Insulin-degrading enzyme is genetically associated with Alzheimer’s disease in the Finnish population
Saila Vepsäläinen, Michele Parkinson, Seppo Helisalmi, Arto Mannermaa, Hilkka Soininen, Rudolph E Tanzi, Lars Bertram, and Mikko Hiltunen
J Med Genet 2007; 44: 606-608. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 May 2007. doi:10.1136/jmg.2006.048470

Online mutation report

New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand
Angelika Lüdtke, Janine Buettner, Hartmut H-J Schmidt, and Howard J Worman
J Med Genet 2007; 44: e88. doi:10.1136/jmg.2007.050567 [Abstract] [Full text] [PDF] [Request Permissions]

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	Cargos and genes: insights into vesicular transport from inherited human disease Paul Gissen and Eamonn R Maher J Med Genet 2007; 44: 545-555. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 25 May 2007. doi:10.1136/jmg.2007.050294

	Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children Farah Zahir, Helen V Firth, Agnes Baross, Allen D Delaney, Patrice Eydoux, William T Gibson, Sylvie Langlois, Howard Martin, Lionel Willatt, Marco A Marra, and Jan M Friedman J Med Genet 2007; 44: 556-561. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 1 June 2007. doi:10.1136/jmg.2007.050823

	*The C20orf133* gene is disrupted in a patient with Kabuki syndrome** Nicole M C Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Constance T R M Schrander-Stumpel, Damien Sanlaville, David Genevieve, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, Jean-Pierre Fryns, and Joris R Vermeesch J Med Genet 2007; 44: 562-569. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 23 June 2007. doi:10.1136/jmg.2007.049510

	*Contribution of the N-acetyltransferase 2 polymorphism NAT26A to age-related hearing impairment** E Van Eyken, G Van Camp, E Fransen, V Topsakal, J J Hendrickx, K Demeester, P Van de Heyning, E Mäki-Torkko, S Hannula, M Sorri, M Jensen, A Parving, M Bille, M Baur, M Pfister, A Bonaconsa, M Mazzoli, E Orzan, A Espeso, D Stephens, K Verbruggen, J Huyghe, I Dhooge, P Huygen, H Kremer, C W R J Cremers, S Kunst, M Manninen, I Pyykkö, A Lacava, M Steffens, T F Wienker, and L Van Laer J Med Genet 2007; 44: 570-578. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 18 May 2007. doi:10.1136/jmg.2007.049205

	*Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN* mutation carriers** K L Lachlan, A M Lucassen, D Bunyan, and I K Temple J Med Genet 2007; 44: 579-585. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 25 May 2007. doi:10.1136/jmg.2007.049981

	*Genetic screening for pheochromocytoma: should SDHC* gene analysis be included?** M Mannelli, T Ercolino, V Giachè, L Simi, C Cirami, and G Parenti J Med Genet 2007; 44: 586-587. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 June 2007. doi:10.1136/jmg.2007.051045

	*Mutations of the Birt–Hogg–Dubé* gene in patients with multiple lung cysts and recurrent pneumothorax** Yoko Gunji, Taeko Akiyoshi, Teruhiko Sato, Masatoshi Kurihara, Shigeru Tominaga, Kazuhisa Takahashi, and Kuniaki Seyama J Med Genet 2007; 44: 588-593. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 May 2007. doi:10.1136/jmg.2007.049874

	*The spectrum of vascular anomalies in patients with PTEN* mutations: implications for diagnosis and management** Wen-Hann Tan, Hagit N Baris, Patricia E Burrows, Caroline D Robson, Ahmad I Alomari, John B Mulliken, Steven J Fishman, and Mira B Irons J Med Genet 2007; 44: 594-602. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 25 May 2007. doi:10.1136/jmg.2007.048934

	*Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension* Ana Carolina Braga Marçano, Beverley Burke, Johannie Gungadoo, Chris Wallace, Pamela J Kaisaki, Peng Y Woon, Martin Farrall, David Clayton, Morris Brown, Anna Dominiczak, John M Connell, John Webster, Mark Lathrop, Mark Caulfield, Nilesh Samani, Dominique Gauguier, and Patricia B Munroe J Med Genet 2007; 44: 603-605. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 June 2007. doi:10.1136/jmg.2007.049718

	Insulin-degrading enzyme is genetically associated with Alzheimer’s disease in the Finnish population Saila Vepsäläinen, Michele Parkinson, Seppo Helisalmi, Arto Mannermaa, Hilkka Soininen, Rudolph E Tanzi, Lars Bertram, and Mikko Hiltunen J Med Genet 2007; 44: 606-608. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 May 2007. doi:10.1136/jmg.2006.048470

	*New PPARG* mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand** Angelika Lüdtke, Janine Buettner, Hartmut H-J Schmidt, and Howard J Worman J Med Genet 2007; 44: e88. doi:10.1136/jmg.2007.050567 [Abstract] [Full text] [PDF] [Request Permissions]