J Med Genet -- Table of Contents (44 [5])

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May 2007 (Volume 44, Number 5). [Index by author]

		Reviews Original articles Short reports Letters to JMG Correspondence

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Reviews

Genetics of dyslexia: the evolving landscape
Johannes Schumacher, Per Hoffmann, Christine Schmäl, Gerd Schulte-Körne, and Markus M Nöthen
J Med Genet 2007; 44: 289-297. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 16 February 2007. doi:10.1136/jmg.2006.046516

Original articles

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts
D Haas, J Morgenthaler, F Lacbawan, B Long, H Runz, S F Garbade, J Zschocke, R I Kelley, J G Okun, G F Hoffmann, and M Muenke
J Med Genet 2007; 44: 298-305. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 19 January 2007. doi:10.1136/jmg.2006.047258

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency
Gudrun Rappold, Werner F Blum, Elena P Shavrikova, Brenda J Crowe, Ralph Roeth, Charmian A Quigley, Judith L Ross, and Beate Niesler
J Med Genet 2007; 44: 306-313. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 December 2006. doi:10.1136/jmg.2006.046581

The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus
Anna Hellquist, Marco Zucchelli, Katja Kivinen, Ulpu Saarialho-Kere, Sari Koskenmies, Elisabeth Widen, Heikki Julkunen, Andrew Wong, Marja-Liisa Karjalainen-Lindsberg, Tiina Skoog, Johanna Vendelin, Deborah S Cunninghame-Graham, Timothy J Vyse, Juha Kere, and Cecilia M Lindgren
J Med Genet 2007; 44: 314-321. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 12 January 2007. doi:10.1136/jmg.2006.046185

Short reports

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
Julie Desir, Graciela Moya, Orit Reish, Nicole Van Regemorter, Hilde Deconinck, Karen L David, Françoise M Meire, and Marc J Abramowicz
J Med Genet 2007; 44: 322-326. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 January 2007. doi:10.1136/jmg.2006.046904

Letters to JMG

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, Martijn H Breuning, Dunja Niedrist, Raoul C Hennekam, Albert Schinzel, and Dorien J M Peters
J Med Genet 2007; 44: 327-333. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 January 2007. doi:10.1136/jmg.2006.046698

L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model
Jacques Penderis, Jacqui Calvin, Carley Abramson, Cornelis Jakobs, Louise Pettitt, Matthew M Binns, Nanda M Verhoeven, Eamonn O’Driscoll, Simon R Platt, and Cathryn S Mellersh
J Med Genet 2007; 44: 334-340. doi:10.1136/jmg.2006.042507 [Abstract] [Full text] [PDF] [Request Permissions]

Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X
Isabel Aznarez, Julian Zielenski, Johanna M Rommens, Benjamin J Blencowe, and Lap-Chee Tsui
J Med Genet 2007; 44: 341-346. doi:10.1136/jmg.2006.045880 [Abstract] [Full text] [PDF] [Request Permissions]

FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage
Kim Debacker, Birgitta Winnepenninckx, Neta Ben-Porat, David FitzPatrick, Rob Van Luijk, Stefaan Scheers, Batsheva Kerem, and R Frank Kooy
J Med Genet 2007; 44: 347-352. doi:10.1136/jmg.2006.044628 [Abstract] [Full text] [web only table] [PDF] [Request Permissions]

Correspondence

Correction: Functional analysis of BRCA1 M1628V variant
Marcelo A Carvalho and Alvaro N A Monteiro
J Med Genet 2007; 44: e78. [Extract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 February 2007. doi:10.1136/jmg.2006.045344

No screening yet after a negative test for the family mutation
M M A Tilanus-Linthorst
J Med Genet 2007; 44: e79. doi:10.1136/jmg.2006.048785 [Extract] [Full text] [PDF] [Request Permissions]

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	Genetics of dyslexia: the evolving landscape Johannes Schumacher, Per Hoffmann, Christine Schmäl, Gerd Schulte-Körne, and Markus M Nöthen J Med Genet 2007; 44: 289-297. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 16 February 2007. doi:10.1136/jmg.2006.046516

	Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts D Haas, J Morgenthaler, F Lacbawan, B Long, H Runz, S F Garbade, J Zschocke, R I Kelley, J G Okun, G F Hoffmann, and M Muenke J Med Genet 2007; 44: 298-305. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 19 January 2007. doi:10.1136/jmg.2006.047258

	*Genotypes and phenotypes in children with short stature: clinical indicators of SHOX* haploinsufficiency** Gudrun Rappold, Werner F Blum, Elena P Shavrikova, Brenda J Crowe, Ralph Roeth, Charmian A Quigley, Judith L Ross, and Beate Niesler J Med Genet 2007; 44: 306-313. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 20 December 2006. doi:10.1136/jmg.2006.046581

	*The human GIMAP5* gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus** Anna Hellquist, Marco Zucchelli, Katja Kivinen, Ulpu Saarialho-Kere, Sari Koskenmies, Elisabeth Widen, Heikki Julkunen, Andrew Wong, Marja-Liisa Karjalainen-Lindsberg, Tiina Skoog, Johanna Vendelin, Deborah S Cunninghame-Graham, Timothy J Vyse, Juha Kere, and Cecilia M Lindgren J Med Genet 2007; 44: 314-321. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 12 January 2007. doi:10.1136/jmg.2006.046185

	Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300 Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, Martijn H Breuning, Dunja Niedrist, Raoul C Hennekam, Albert Schinzel, and Dorien J M Peters J Med Genet 2007; 44: 327-333. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 12 January 2007. doi:10.1136/jmg.2006.046698

	L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model Jacques Penderis, Jacqui Calvin, Carley Abramson, Cornelis Jakobs, Louise Pettitt, Matthew M Binns, Nanda M Verhoeven, Eamonn O’Driscoll, Simon R Platt, and Cathryn S Mellersh J Med Genet 2007; 44: 334-340. doi:10.1136/jmg.2006.042507 [Abstract] [Full text] [PDF] [Request Permissions]

	Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X Isabel Aznarez, Julian Zielenski, Johanna M Rommens, Benjamin J Blencowe, and Lap-Chee Tsui J Med Genet 2007; 44: 341-346. doi:10.1136/jmg.2006.045880 [Abstract] [Full text] [PDF] [Request Permissions]

	FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage Kim Debacker, Birgitta Winnepenninckx, Neta Ben-Porat, David FitzPatrick, Rob Van Luijk, Stefaan Scheers, Batsheva Kerem, and R Frank Kooy J Med Genet 2007; 44: 347-352. doi:10.1136/jmg.2006.044628 [Abstract] [Full text] [web only table] [PDF] [Request Permissions]

	Correction: Functional analysis of BRCA1 M1628V variant Marcelo A Carvalho and Alvaro N A Monteiro J Med Genet 2007; 44: e78. [Extract] [Full text] [PDF] [Request Permissions] Published Online First: 20 February 2007. doi:10.1136/jmg.2006.045344

	No screening yet after a negative test for the family mutation M M A Tilanus-Linthorst J Med Genet 2007; 44: e79. doi:10.1136/jmg.2006.048785 [Extract] [Full text] [PDF] [Request Permissions]

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