BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé Syndrome: A new series of 50 families and a review of published reports
J. R. Toro, M. Wei, G. Glenn, M. Weinreich, O. Toure, C. Vocke, M. L. Turner, M. Merino, P. Pinto, S. Steinberg, L. Schmidt, and W. M. Linehan
J Med Genet 45: 321-331

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis
K. D. Hadfield, W. G. Newman, N. L. Bowers, A. Wallace, C. M. Bolger, A. Colley, E. McCann, D. Trump, T. Prescott, and G. Evans
J Med Genet 45: 332-339

A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
M. Clendenning, L. Senter, H. Hampel, K. Lagerstedt Robinson, S. Sun, D. Buchanan, M. D. Walsh, M. Nilbert, J. S. Green, J. Potter, A. Lindblom, and A. de la Chapelle
J Med Genet 45: 340-345

Clinical and Molecular Characteristics of 1qter Syndrome: Delineating a Critical Region for corpus callosum agenesis/hypogenesis
B. W. van Bon, D. A. Koolen, R. Borgatti, A. Magee, S. Garcia-Minaur, L. Rooms, W. Reardon, M. Zollino, M. C. Bonaglia, M. De gregori, F. Novara, R. Grasso, R. Ciccone, H. A. van Duyvenvoorde, A. M. Aalbers, R. Guerrini, E. Fazzi, W. M. Nillesen, S. McCullough, S. G. Kant, C. L. Marcelis, R. Pfundt, N. de Leeuw, D. Smeets, E. A. Sistermans, J. M. Wit, B. C. Hamel, H. G. Brunner, F. Kooy, O. Zuffardi, and B. B. de Vries
J Med Genet 45: 346-354

High frequency of genomic deletions and duplication in the LIS1 gene in lissencephaly: implications for molecular diagnosis
D. Mei, R. Lewis, E. Parrini, L. P. Lazarou, C. Marini, D. T. Pilz, and R. Guerrini
J Med Genet 45: 355-361

Interferon Regulatory Factor 5 (IRF5) Gene Variants are Associated with Multiple Sclerosis in Three Distinct Populations
G. Kristjansdottir, J. K. Sandling, A. Bonetti, I. M. Roos, L. Milani, C. Wang, S. M. Gustafsdottir, S. Sigurdsson, A. Lundmark, P. J. Tienari, K. Koivisto, I. Elovaara, T. Pirttilä, M. Reunanen, L. Peltonen, J. Saarela, J. Hillert, T. Olsson, U. Landegren, A. Alcina, O. Fernández, L. Leyva, M. Guerrero, M. Lucas, G. Izquierdo, F. Matesanz, and A. Syvänen
J Med Genet 45: 362-369

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
E. Klopocki, C. Ott, N. Benatar, R. Ullmann, S. Mundlos, and K. Lehmann
J Med Genet 45: 370-375

Identification of a novel PEX14 mutation in Zellweger syndrome
S. J. Huybrechts, P. P. Van Veldhoven, I. Hoffman, R. Zeevaert, R. de Vos, P. Demaerel, M. Brams, J. Jaeken, M. Fransen, and D. Cassiman
J Med Genet 45: 376-383

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
L. Faivre, G. Collod-Beroud, B. L. Loeys, A. Child, C. Binquet, E. Gautier, B. Callewaert, E. Arbustini, K. Mayer, M. Arslan-Kirchner, C. Stheneur, A. Kiotsekoglu, P. Comeglio, N. Marziliano, D. Halliday, C. Beroud, C. Bonithon-Kopp, M. Claustres, H. Plauchu, P. N. Robinson, L. Ades, J. De Backer, P. Coucke, U. Francke, A. De Paepe, C. Boileau, and G. Jondeau
J Med Genet 45: 384-390

Expansion in Size of a Terminal Deletion: A Paradigm shift for Parental Follow-up Studies
S. South, A. Rope, A. Lamb, E. Aston, N. Glaus, H. Whitby, T. Maxwell, X. Zhu, and A. Brothman
J Med Genet 45: 391-395

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome
H. Bullman, M. Lever, D. O. Robinson, D. J. Mackay, S. E. Holder, and E. L. Wakeling
J Med Genet 45: 396-399

"Heme oxygenase 1 variations and lung function decline in smokers - proof of replication"
M. Siedli, C. van Diemen, D. Postma, and H. M. Boezen
J Med Genet 45: 400-400