Table of contents

Letters to JMG

• Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein (4 May, 2007)

  Byung-Eun Kim, Michael J Petris
• Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome (2 October, 2007)

  Daniela Concolino, Elena Rossi, Pietro Strisciuglio, Maria Antonietta Iembo, Roberto Giorda, Roberto Ciccone, Romano Tenconi, Orsetta Zuffardi
• SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

  (23 June, 2007)

  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, Kerstin Kutsche
• Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

  (6 July, 2007)

  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, Friedhelm Hildebrandt
• Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome (1 June, 2007)

  J Steffann, N Gigarel, J Corcos, M Bonnière, F Encha-Razavi, M Sinico, S Prevot, Y Dumez, A Yamgnane, R Frydman, A Munnich, J P Bonnefont
• The IRF5 polymorphism in type 1 diabetes

  (8 June, 2007)

  Hui-Qi Qu, Luc Marchand, Rosemary Grabs, Constantin Polychronakos