Table of contents

Original articles

• Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients (31 August, 2007)

  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, O Zuffardi
• Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome (17 August, 2007)

  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, Hélène Cavé
• Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia

  (3 August, 2007)

  N Maksimova, K Hara, A Miyashia, I Nikolaeva, A Shiga, A Nogovicina, A Sukhomyasova, V Argunov, A Shvedova, T Ikeuchi, M Nishizawa, R Kuwano, O Onodera
• GATA4 sequence variants in patients with congenital heart disease

  (30 November, 2007)

  A Tomita-Mitchell, C L Maslen, C D Morris, V Garg, E Goldmuntz