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February 2007 (Volume 44, Number 2). [Index by author]

		Reviews Original articles Short reports Letters to JMG Miscellaneous Electronic letters Online mutation report

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Reviews

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
Rosalie E Ferner, Susan M Huson, Nick Thomas, Celia Moss, Harry Willshaw, D Gareth Evans, Meena Upadhyaya, Richard Towers, Michael Gleeson, Christine Steiger, and Amanda Kirby
J Med Genet 2007; 44: 81-88. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 November 2006. doi:10.1136/jmg.2006.045906

Original articles

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
Louise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Al-Madani, Helen Firth, Mohammad Hassan Karimi-Nejad, Chong Ae Kim, Kathryn Leask, Melissa Maisenbacher, Ellen Moran, John G Pappas, Paolo Prontera, Thomy de Ravel, Jean-Pierre Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, L C Wilson, Ralph S Lachman, David L Rimoin, Daniel H Cohn, Deborah Krakow, and Stephen P Robertson
J Med Genet 2007; 44: 89-98. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 26 June 2006. doi:10.1136/jmg.2006.043687

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
Alisa M Goldstein, May Chan, Mark Harland, Nicholas K Hayward, Florence Demenais, D Timothy Bishop, Esther Azizi, Wilma Bergman, Giovanna Bianchi-Scarra, William Bruno, Donato Calista, Lisa A Cannon Albright, Valerie Chaudru, Agnes Chompret, Francisco Cuellar, David E Elder, Paola Ghiorzo, Elizabeth M Gillanders, Nelleke A Gruis, Johan Hansson, David Hogg, Elizabeth A Holland, Peter A Kanetsky, Richard F Kefford, Maria Teresa Landi, Julie Lang, Sancy A Leachman, Rona M MacKie, Veronica Magnusson, Graham J Mann, Julia Newton Bishop, Jane M Palmer, Susana Puig, Joan A Puig-Butille, Mitchell Stark, Hensin Tsao, Margaret A Tucker, Linda Whitaker, Emanuel Yakobson, The Lund Melanoma Study Group, and the Melanoma Genetics Consortium (GenoMEL)
J Med Genet 2007; 44: 99-106. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 August 2006. doi:10.1136/jmg.2006.043802

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer
Jacques Simard, Martine Dumont, Anne-Marie Moisan, Valérie Gaborieau, Hélène Vézina, Francine Durocher, Jocelyne Chiquette, Marie Plante, Denise Avard, Paul Bessette, Claire Brousseau, Michel Dorval, Béatrice Godard, Louis Houde, Yann Joly, Marie-Andrée Lajoie, Gilles Leblanc, Jean Lépine, Bernard Lespérance, Hélène Malouin, Jillian Parboosingh, Roxane Pichette, Louise Provencher, Josée Rhéaume, Daniel Sinnett, Carolle Samson, Jean-Claude Simard, Martine Tranchant, Patricia Voyer, INHERIT BRCAs, Douglas Easton, Sean V Tavtigian, Bartha-Maria Knoppers, Rachel Laframboise, Peter Bridge, and David Goldgar
J Med Genet 2007; 44: 107-121. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 August 2006. doi:10.1136/jmg.2006.044388

Schimke immuno-osseous dysplasia: a clinicopathological correlation
J Marietta Clewing, Barbara C Antalfy, Thomas Lücke, Behzad Najafian, Katja M Marwedel, Akira Hori, Ralph M Powel, A F Safo Do, Lydia Najera, Karen SantaCruz, M John Hicks, Dawna L Armstrong, and Corndins F Boerkoel
J Med Genet 2007; 44: 122-130. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 July 2006. doi:10.1136/jmg.2006.044313

Short reports

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
Martin Zenker, Katarina Lehmann, Anna Leana Schulz, Helmut Barth, Dagmar Hansmann, Rainer Koenig, Rudolf Korinthenberg, Martina Kreiss-Nachtsheim, Peter Meinecke, Susanne Morlot, Stefan Mundlos, Anne S Quante, Salmo Raskin, Dirk Schnabel, Lars-Erik Wehner, Christian P Kratz, Denise Horn, and Kerstin Kutsche
J Med Genet 2007; 44: 131-135. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 October 2006. doi:10.1136/jmg.2006.046300

Letters to JMG

An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism
Lisa Edelmann, Aaron Prosnitz, Sherly Pardo, Jahnavi Bhatt, Ninette Cohen, Tara Lauriat, Leonid Ouchanov, Patricia J González, Elina R Manghi, Pamela Bondy, Marcela Esquivel, Silvia Monge, Marietha F Delgado, Alessandra Splendore, Uta Francke, Barbara K Burton, and L Alison McInnes
J Med Genet 2007; 44: 136-143. [Abstract] [Full text] [web only figure][web only tables] [PDF] [Request Permissions]
Published Online First: 13 September 2006. doi:10.1136/jmg.2006.044537

Methylation analysis of KvDMR1 in human oocytes
Elke Geuns, Pierre Hilven, André Van Steirteghem, Inge Liebaers, and Martine De Rycke
J Med Genet 2007; 44: 144-147. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 1 September 2006. doi:10.1136/jmg.2006.044149

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation
Hayley Archer, Julie Evans, Helen Leonard, Lyn Colvin, David Ravine, John Christodoulou, Sarah Williamson, Tony Charman, Mark E S Bailey, Julian Sampson, Nicholas de Klerk, and Angus Clarke
J Med Genet 2007; 44: 148-152. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 August 2006. doi:10.1136/jmg.2006.045260

Development of a genotyping microarray for Usher syndrome
Frans P M Cremers, William J Kimberling, Maigi Külm, Arjan P de Brouwer, Erwin van Wijk, Heleen te Brinke, Cor W R J Cremers, Lies H Hoefsloot, Sandro Banfi, Francesca Simonelli, Johannes C Fleischhauer, Wolfgang Berger, Phil M Kelley, Elene Haralambous, Maria Bitner-Glindzicz, Andrew R Webster, Zubin Saihan, Elfride De Baere, Bart P Leroy, Giuliana Silvestri, Gareth J McKay, Robert K Koenekoop, Jose M Millan, Thomas Rosenberg, Tarja Joensuu, Eeva-Marja Sankila, Dominique Weil, Mike D Weston, Bernd Wissinger, and Hannie Kremer
J Med Genet 2007; 44: 153-160. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions]
Published Online First: 8 September 2006. doi:10.1136/jmg.2006.044784

Miscellaneous

CORRECTION
J Med Genet 2007; 44: 147. doi:10.1136/jmg.2006.041285corr1 [Extract] [Full text] [PDF] [Request Permissions]

CORRECTION
J Med Genet 2007; 44: 160. doi:10.1136/jmg.2006.044222corr1 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease
Jacinta Bustamante, Capucine Picard, Claire Fieschi, Orchidée Filipe-Santos, Jacqueline Feinberg, Christian Perronne, Ariane Chapgier, Ludovic de Beaucoudrey, Guillaume Vogt, Damien Sanlaville, Arnaud Lemainque, Jean-François Emile, Laurent Abel, and Jean-Laurent Casanova
J Med Genet 2007; 44: e65. doi:10.1136/jmg.2006.043406 [Abstract] [Full text] [PDF] [Request Permissions]

Genetic variants in brain-derived neurotrophic factor associated with Alzheimer’s disease
R Huang, J Huang, H Cathcart, S Smith, and S E Poduslo
J Med Genet 2007; 44: e66. doi:10.1136/jmg.2006.044883 [Abstract] [Full text] [PDF] [Request Permissions]

Online mutation report

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres
Daniela Rossi, Patrick De Smet, Alla Lyfenko, Lucia Galli, Stefania Lorenzini, Daniela Franci, Francesco Petrioli, Alfredo Orrico, Corrado Angelini, Vincenzo Tegazzin, Robert Dirksen, and Vincenzo Sorrentino
J Med Genet 2007; 44: e67. doi:10.1136/jmg.2006.043794 [Abstract] [Full text] [PDF] [Request Permissions]

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	A molecular and clinical study of Larsen syndrome caused by mutations in FLNB Louise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Al-Madani, Helen Firth, Mohammad Hassan Karimi-Nejad, Chong Ae Kim, Kathryn Leask, Melissa Maisenbacher, Ellen Moran, John G Pappas, Paolo Prontera, Thomy de Ravel, Jean-Pierre Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, L C Wilson, Ralph S Lachman, David L Rimoin, Daniel H Cohn, Deborah Krakow, and Stephen P Robertson J Med Genet 2007; 44: 89-98. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 26 June 2006. doi:10.1136/jmg.2006.043687

	Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents Alisa M Goldstein, May Chan, Mark Harland, Nicholas K Hayward, Florence Demenais, D Timothy Bishop, Esther Azizi, Wilma Bergman, Giovanna Bianchi-Scarra, William Bruno, Donato Calista, Lisa A Cannon Albright, Valerie Chaudru, Agnes Chompret, Francisco Cuellar, David E Elder, Paola Ghiorzo, Elizabeth M Gillanders, Nelleke A Gruis, Johan Hansson, David Hogg, Elizabeth A Holland, Peter A Kanetsky, Richard F Kefford, Maria Teresa Landi, Julie Lang, Sancy A Leachman, Rona M MacKie, Veronica Magnusson, Graham J Mann, Julia Newton Bishop, Jane M Palmer, Susana Puig, Joan A Puig-Butille, Mitchell Stark, Hensin Tsao, Margaret A Tucker, Linda Whitaker, Emanuel Yakobson, The Lund Melanoma Study Group, and the Melanoma Genetics Consortium (GenoMEL) J Med Genet 2007; 44: 99-106. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 August 2006. doi:10.1136/jmg.2006.043802

	*Evaluation of BRCA1* and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer** Jacques Simard, Martine Dumont, Anne-Marie Moisan, Valérie Gaborieau, Hélène Vézina, Francine Durocher, Jocelyne Chiquette, Marie Plante, Denise Avard, Paul Bessette, Claire Brousseau, Michel Dorval, Béatrice Godard, Louis Houde, Yann Joly, Marie-Andrée Lajoie, Gilles Leblanc, Jean Lépine, Bernard Lespérance, Hélène Malouin, Jillian Parboosingh, Roxane Pichette, Louise Provencher, Josée Rhéaume, Daniel Sinnett, Carolle Samson, Jean-Claude Simard, Martine Tranchant, Patricia Voyer, INHERIT BRCAs, Douglas Easton, Sean V Tavtigian, Bartha-Maria Knoppers, Rachel Laframboise, Peter Bridge, and David Goldgar J Med Genet 2007; 44: 107-121. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 August 2006. doi:10.1136/jmg.2006.044388

	Schimke immuno-osseous dysplasia: a clinicopathological correlation J Marietta Clewing, Barbara C Antalfy, Thomas Lücke, Behzad Najafian, Katja M Marwedel, Akira Hori, Ralph M Powel, A F Safo Do, Lydia Najera, Karen SantaCruz, M John Hicks, Dawna L Armstrong, and Corndins F Boerkoel J Med Genet 2007; 44: 122-130. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 July 2006. doi:10.1136/jmg.2006.044313

	An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism Lisa Edelmann, Aaron Prosnitz, Sherly Pardo, Jahnavi Bhatt, Ninette Cohen, Tara Lauriat, Leonid Ouchanov, Patricia J González, Elina R Manghi, Pamela Bondy, Marcela Esquivel, Silvia Monge, Marietha F Delgado, Alessandra Splendore, Uta Francke, Barbara K Burton, and L Alison McInnes J Med Genet 2007; 44: 136-143. [Abstract] [Full text] [web only figure][web only tables] [PDF] [Request Permissions] Published Online First: 13 September 2006. doi:10.1136/jmg.2006.044537

	Methylation analysis of KvDMR1 in human oocytes Elke Geuns, Pierre Hilven, André Van Steirteghem, Inge Liebaers, and Martine De Rycke J Med Genet 2007; 44: 144-147. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 1 September 2006. doi:10.1136/jmg.2006.044149

	*Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2* mutation, and the direction and degree of skewing of X-chromosome inactivation** Hayley Archer, Julie Evans, Helen Leonard, Lyn Colvin, David Ravine, John Christodoulou, Sarah Williamson, Tony Charman, Mark E S Bailey, Julian Sampson, Nicholas de Klerk, and Angus Clarke J Med Genet 2007; 44: 148-152. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 August 2006. doi:10.1136/jmg.2006.045260

	Development of a genotyping microarray for Usher syndrome Frans P M Cremers, William J Kimberling, Maigi Külm, Arjan P de Brouwer, Erwin van Wijk, Heleen te Brinke, Cor W R J Cremers, Lies H Hoefsloot, Sandro Banfi, Francesca Simonelli, Johannes C Fleischhauer, Wolfgang Berger, Phil M Kelley, Elene Haralambous, Maria Bitner-Glindzicz, Andrew R Webster, Zubin Saihan, Elfride De Baere, Bart P Leroy, Giuliana Silvestri, Gareth J McKay, Robert K Koenekoop, Jose M Millan, Thomas Rosenberg, Tarja Joensuu, Eeva-Marja Sankila, Dominique Weil, Mike D Weston, Bernd Wissinger, and Hannie Kremer J Med Genet 2007; 44: 153-160. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions] Published Online First: 8 September 2006. doi:10.1136/jmg.2006.044784

	CORRECTION J Med Genet 2007; 44: 147. doi:10.1136/jmg.2006.041285corr1 [Extract] [Full text] [PDF] [Request Permissions]

	CORRECTION J Med Genet 2007; 44: 160. doi:10.1136/jmg.2006.044222corr1 [Extract] [Full text] [PDF] [Request Permissions]

	A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease Jacinta Bustamante, Capucine Picard, Claire Fieschi, Orchidée Filipe-Santos, Jacqueline Feinberg, Christian Perronne, Ariane Chapgier, Ludovic de Beaucoudrey, Guillaume Vogt, Damien Sanlaville, Arnaud Lemainque, Jean-François Emile, Laurent Abel, and Jean-Laurent Casanova J Med Genet 2007; 44: e65. doi:10.1136/jmg.2006.043406 [Abstract] [Full text] [PDF] [Request Permissions]

	Genetic variants in brain-derived neurotrophic factor associated with Alzheimer’s disease R Huang, J Huang, H Cathcart, S Smith, and S E Poduslo J Med Genet 2007; 44: e66. doi:10.1136/jmg.2006.044883 [Abstract] [Full text] [PDF] [Request Permissions]