J Med Genet -- Table of Contents (44 [12])

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December 2007 (Volume 44, Number 12). [Index by author]

		Review Original articles Short report Letters to JMG Mutation report

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

To see an article, click its [Full Text] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstracts' 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 8993T $->$ C 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]

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	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

	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]

	*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

	*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 8993T $->$ C 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]

	*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]