To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

Review

	Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature M Carlson and M Silberbach J Med Genet 2007; 44: 745-749. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions]   Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052019

Original articles

	Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, F Novara, A Vetro, E Rossi, P Maraschio, M C Bonaglia, C Anichini, G B Ferrero, M Silengo, E Fazzi, A Zatterale, R Fischetto, C Previderé, S Belli, A Turci, G Calabrese, F Bernardi, E Meneghelli, M Riegel, M Rocchi, S Guerneri, F Lalatta, L Zelante, C Romano, M Fichera, T Mattina, G Arrigo, M Zollino, S Giglio, F Lonardo, A Bonfante, A Ferlini, F Cifuentes, H Van Esch, L Backx, A Schinzel, J R Vermeesch, and O Zuffardi J Med Genet 2007; 44: 750-762. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions]   Published Online First: 31 August 2007. doi:10.1136/jmg.2007.052787
	Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome Caroline Nava, Nadine Hanna, Caroline Michot, Sabrina Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yoko Aoki, Yoichi Matsubara, Benoit Arveiler, Didier Lacombe, Eric Pasmant, Béatrice Parfait, Clarisse Baumann, Delphine Héron, Sabine Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloes, and Hélène Cavé J Med Genet 2007; 44: 763-771. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 17 August 2007. doi:10.1136/jmg.2007.050450
	Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia N Maksimova, K Hara, A Miyashia, I Nikolaeva, A Shiga, A Nogovicina, A Sukhomyasova, V Argunov, A Shvedova, T Ikeuchi, M Nishizawa, R Kuwano, and O Onodera J Med Genet 2007; 44: 772-778. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 3 August 2007. doi:10.1136/jmg.2007.051979
	GATA4 sequence variants in patients with congenital heart disease A Tomita-Mitchell, C L Maslen, C D Morris, V Garg, and E Goldmuntz J Med Genet 2007; 44: 779-783. doi:10.1136/jmg.2007.052183 [Abstract] [Full text] [PDF] [Request Permissions]

Short report

	Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation A Saada, A Shaag, S Arnon, T Dolfin, C Miller, D Fuchs-Telem, A Lombes, and O Elpeleg J Med Genet 2007; 44: 784-786. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 14 September 2007. doi:10.1136/jmg.2007.053116

Letters to JMG

	Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion Veronica van Heyningen, Jan M N Hoovers, Jan de Kraker, and John A Crolla J Med Genet 2007; 44: 787-790. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]   Published Online First: 14 July 2007. doi:10.1136/jmg.2007.051318
	Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures S E Heron, K Cox, B E Grinton, S M Zuberi, S Kivity, Z Afawi, R Straussberg, S F Berkovic, I E Scheffer, and J C Mulley J Med Genet 2007; 44: 791-796. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 3 August 2007. doi:10.1136/jmg.2007.051938
	Episodic ataxia and hemiplegia caused by the 8993TC mitochondrial DNA mutation K Craig, H R Elliott, S M Keers, C Lambert, A Pyle, T D Graves, C Woodward, M G Sweeney, M B Davis, M G Hanna, and P F Chinnery J Med Genet 2007; 44: 797-799. doi:10.1136/jmg.2007.052902 [Abstract] [Full text] [PDF] [Request Permissions]

Mutation report

	Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification A De Luca, I Bottillo, M C Dasdia, A Morella, V Lanari, L Bernardini, L Divona, S Giustini, L Sinibaldi, A Novelli, I Torrente, A Schirinzi, and B Dallapiccola J Med Genet 2007; 44: 800-808. doi:10.1136/jmg.2007.053785 [Abstract] [Full text] [web only table] [PDF] [Request Permissions]

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.