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October 2007 (Volume 44, Number 10). [Index by author]

		Original articles Short reports Letters to JMG Miscellaneous Correspondence Online mutation report

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Special Data Supplement for this Issue

[British Human Genetics Conference 2007]

Original articles

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A
M Fanin, L Nardetto, A C Nascimbeni, E Tasca, M Spinazzi, R Padoan, and C Angelini
J Med Genet 2007; 44: 609-614. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 25 May 2007. doi:10.1136/jmg.2007.050328

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
J Dahlqvist, J Klar, I Hausser, I Anton-Lamprecht, M Hellström Pigg, T Gedde-Dahl, Jr, A Gånemo, A Vahlquist, and N Dahl
J Med Genet 2007; 44: 615-620. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 June 2007. doi:10.1136/jmg.2007.050542

Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
Ellen G Pfendner, Olivier M Vanakker, Sharon F Terry, Sophia Vourthis, Patricia E McAndrew, Monica R McClain, Sarah Fratta, Anna-Susan Marais, Susan Hariri, Paul J Coucke, Michele Ramsay, Denis Viljoen, Patrick F Terry, Anne De Paepe, Jouni Uitto, and Lionel G Bercovitch
J Med Genet 2007; 44: 621-628. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 6 July 2007. doi:10.1136/jmg.2007.051094

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
Juliane Hoyer, Alexander Dreweke, Christian Becker, Ina Göhring, Christian T Thiel, Maarit M Peippo, Ralf Rauch, Michael Hofbeck, Udo Trautmann, Christiane Zweier, Martin Zenker, Ulrike Hüffmeier, Cornelia Kraus, Arif B Ekici, Franz Rüschendorf, Peter Nürnberg, André Reis, and Anita Rauch
J Med Genet 2007; 44: 629-636. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 29 June 2007. doi:10.1136/jmg.2007.050914

Short reports

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
I K Temple, V Shrubb, M Lever, H Bullman, and D J G Mackay
J Med Genet 2007; 44: 637-640. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 29 June 2007. doi:10.1136/jmg.2007.050807

Letters to JMG

Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein
Byung-Eun Kim and Michael J Petris
J Med Genet 2007; 44: 641-646. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 4 May 2007. doi:10.1136/jmg.2007.049627

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome
Daniela Concolino, Elena Rossi, Pietro Strisciuglio, Maria Antonietta Iembo, Roberto Giorda, Roberto Ciccone, Romano Tenconi, and Orsetta Zuffardi
J Med Genet 2007; 44: 647-650. doi:10.1136/jmg.2007.050963 [Abstract] [Full text] [PDF] [Request Permissions]

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
Martin Zenker, Denise Horn, Dagmar Wieczorek, Judith Allanson, Silke Pauli, Ineke van der Burgt, Helmuth-Guenther Doerr, Harald Gaspar, Michael Hofbeck, Gabriele Gillessen-Kaesbach, Andreas Koch, Peter Meinecke, Stefan Mundlos, Anja Nowka, Anita Rauch, Silke Reif, Christian von Schnakenburg, Heide Seidel, Lars-Erik Wehner, Christiane Zweier, Susanne Bauhuber, Verena Matejas, Christian P Kratz, Christoph Thomas, and Kerstin Kutsche
J Med Genet 2007; 44: 651-656. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 23 June 2007. doi:10.1136/jmg.2007.051276

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome
Juliana Helou, Edgar A Otto, Massimo Attanasio, Susan J Allen, Melissa A Parisi, Ian Glass, Boris Utsch, Seema Hashmi, Elisa Fazzi, Heymut Omran, John F O’Toole, John A Sayer, and Friedhelm Hildebrandt
J Med Genet 2007; 44: 657-663. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2007. doi:10.1136/jmg.2007.052027

Stability of the m.8993T $->$ G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome
J Steffann, N Gigarel, J Corcos, M Bonnière, F Encha-Razavi, M Sinico, S Prevot, Y Dumez, A Yamgnane, R Frydman, A Munnich, and J P Bonnefont
J Med Genet 2007; 44: 664-669. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 1 June 2007. doi:10.1136/jmg.2006.048553

The IRF5 polymorphism in type 1 diabetes
Hui-Qi Qu, Luc Marchand, Rosemary Grabs, and Constantin Polychronakos
J Med Genet 2007; 44: 670-672. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 June 2007. doi:10.1136/jmg.2007.050971

Miscellaneous

Correction
J Med Genet 2007; 44: 628. doi:10.1136/jmg.2007.049635corr1 [Extract] [Full text] [PDF] [Request Permissions]

Correspondence

Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature
Alexander A L Jorge, Ivo J P Arnhold, Werner Blum, and Gudrun Rappold
J Med Genet 2007; 44: e90-e91. [Extract] [Full text] [PDF] [Request Permissions]

Online mutation report

The T/G–13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population
F Imtiaz, E Savilahti, A Sarnesto, D Trabzuni, K Al-Kahtani, I Kagevi, M S Rashed, B F Meyer, and I Järvelä
J Med Genet 2007; 44: e89. doi:10.1136/jmg.2007.051631 [Abstract] [Full text] [PDF] [Request Permissions]

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	Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A M Fanin, L Nardetto, A C Nascimbeni, E Tasca, M Spinazzi, R Padoan, and C Angelini J Med Genet 2007; 44: 609-614. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 25 May 2007. doi:10.1136/jmg.2007.050328

	*Congenital ichthyosis: mutations in ichthyin* are associated with specific structural abnormalities in the granular layer of epidermis** J Dahlqvist, J Klar, I Hausser, I Anton-Lamprecht, M Hellström Pigg, T Gedde-Dahl, Jr, A Gånemo, A Vahlquist, and N Dahl J Med Genet 2007; 44: 615-620. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 June 2007. doi:10.1136/jmg.2007.050542

	*Mutation detection in the ABCC6* gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum** Ellen G Pfendner, Olivier M Vanakker, Sharon F Terry, Sophia Vourthis, Patricia E McAndrew, Monica R McClain, Sarah Fratta, Anna-Susan Marais, Susan Hariri, Paul J Coucke, Michele Ramsay, Denis Viljoen, Patrick F Terry, Anne De Paepe, Jouni Uitto, and Lionel G Bercovitch J Med Genet 2007; 44: 621-628. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 6 July 2007. doi:10.1136/jmg.2007.051094

	Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays Juliane Hoyer, Alexander Dreweke, Christian Becker, Ina Göhring, Christian T Thiel, Maarit M Peippo, Ralf Rauch, Michael Hofbeck, Udo Trautmann, Christiane Zweier, Martin Zenker, Ulrike Hüffmeier, Cornelia Kraus, Arif B Ekici, Franz Rüschendorf, Peter Nürnberg, André Reis, and Anita Rauch J Med Genet 2007; 44: 629-636. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 29 June 2007. doi:10.1136/jmg.2007.050914

	Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14 I K Temple, V Shrubb, M Lever, H Bullman, and D J G Mackay J Med Genet 2007; 44: 637-640. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 29 June 2007. doi:10.1136/jmg.2007.050807

	Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein Byung-Eun Kim and Michael J Petris J Med Genet 2007; 44: 641-646. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 4 May 2007. doi:10.1136/jmg.2007.049627

	Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome Daniela Concolino, Elena Rossi, Pietro Strisciuglio, Maria Antonietta Iembo, Roberto Giorda, Roberto Ciccone, Romano Tenconi, and Orsetta Zuffardi J Med Genet 2007; 44: 647-650. doi:10.1136/jmg.2007.050963 [Abstract] [Full text] [PDF] [Request Permissions]

	SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome Martin Zenker, Denise Horn, Dagmar Wieczorek, Judith Allanson, Silke Pauli, Ineke van der Burgt, Helmuth-Guenther Doerr, Harald Gaspar, Michael Hofbeck, Gabriele Gillessen-Kaesbach, Andreas Koch, Peter Meinecke, Stefan Mundlos, Anja Nowka, Anita Rauch, Silke Reif, Christian von Schnakenburg, Heide Seidel, Lars-Erik Wehner, Christiane Zweier, Susanne Bauhuber, Verena Matejas, Christian P Kratz, Christoph Thomas, and Kerstin Kutsche J Med Genet 2007; 44: 651-656. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 23 June 2007. doi:10.1136/jmg.2007.051276

	*Mutation analysis of NPHP6/CEP290* in patients with Joubert syndrome and Senior–Løken syndrome** Juliana Helou, Edgar A Otto, Massimo Attanasio, Susan J Allen, Melissa A Parisi, Ian Glass, Boris Utsch, Seema Hashmi, Elisa Fazzi, Heymut Omran, John F O’Toole, John A Sayer, and Friedhelm Hildebrandt J Med Genet 2007; 44: 657-663. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2007. doi:10.1136/jmg.2007.052027

	Stability of the m.8993T $->$ G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome J Steffann, N Gigarel, J Corcos, M Bonnière, F Encha-Razavi, M Sinico, S Prevot, Y Dumez, A Yamgnane, R Frydman, A Munnich, and J P Bonnefont J Med Genet 2007; 44: 664-669. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 1 June 2007. doi:10.1136/jmg.2006.048553

	*The IRF5* polymorphism in type 1 diabetes** Hui-Qi Qu, Luc Marchand, Rosemary Grabs, and Constantin Polychronakos J Med Genet 2007; 44: 670-672. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 June 2007. doi:10.1136/jmg.2007.050971

	Correction J Med Genet 2007; 44: 628. doi:10.1136/jmg.2007.049635corr1 [Extract] [Full text] [PDF] [Request Permissions]

	*Anthropometric evaluation of children with SHOX* mutations can be used as indication for genetic studies in children of short stature** Alexander A L Jorge, Ivo J P Arnhold, Werner Blum, and Gudrun Rappold J Med Genet 2007; 44: e90-e91. [Extract] [Full text] [PDF] [Request Permissions]

	*The T/G–13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population* F Imtiaz, E Savilahti, A Sarnesto, D Trabzuni, K Al-Kahtani, I Kagevi, M S Rashed, B F Meyer, and I Järvelä J Med Genet 2007; 44: e89. doi:10.1136/jmg.2007.051631 [Abstract] [Full text] [PDF] [Request Permissions]