Journal of Medical Genetics: 43 (1)

Review

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment (13 May, 2005) Free
K Janssens, F Vanhoenacker, M Bonduelle, L Verbruggen, L Van Maldergem, S Ralston, N Guañabens, N Migone, S Wientroub, M T Divizia, C Bergmann, C Bennett, S Simsek, S Melançon, T Cundy, W Van Hul

Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage (27 May, 2005)
P Stuart, R P Nair, G R Abecasis, I Nistor, R Hiremagalore, N V Chia, Z S Qin, R A Thompson, S Jenisch, M Weichenthal, J Janiga, H W Lim, E Christophers, J J Voorhees, J T Elder
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
(3 June, 2005)
M-H Wei, O Toure, G M Glenn, M Pithukpakorn, L Neckers, C Stolle, P Choyke, R Grubb, L Middelton, M L Turner, M M Walther, M J Merino, B Zbar, W M Linehan, J R Toro
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH
(8 June, 2005)
K K Mantripragada, A-C Thuresson, A Piotrowski, T Díaz de Ståhl, U Menzel, G Grigelionis, R E Ferner, S Griffiths, L Bolund, V Mautner, M Nordling, E Legius, D Vetrie, N Dahl, L Messiaen, M Upadhyaya, C E G Bruder, J P Dumanski
Comprehensive analysis of CDKN2A (p16^INK4A/p14^ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma
(3 June, 2005)
K Laud, C Marian, M F Avril, M Barrois, A Chompret, A M Goldstein, M A Tucker, P A Clark, G Peters, V Chaudru, F Demenais, A Spatz, M W Smith, G M Lenoir, B Bressac-de Paillerets

Skewed X chromosome inactivation and early-onset breast cancer (27 May, 2005)
J P Struewing, M A Pineda, M E Sherman, J Lissowska, L A Brinton, B Peplonska, A Bardin-Mikolajczak, M Garcia-Closas

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study (5 January, 2006)
C Thauvin-Robinet, M Cossée, V Cormier-Daire, L Van Maldergem, A Toutain, Y Alembik, E Bieth, V Layet, P Parent, A David, A Goldenberg, G Mortier, D Héron, P Sagot, A M Bouvier, F Huet, V Cusin, A Donzel, D Devys, J R Teyssier, L Faivre
Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes (3 June, 2005)
G J Pazour, N Agrin, B L Walker, G B Witman
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants (27 May, 2005)
P K Lovelock, S Healey, W Au, E Y M Sum, A Tesoriero, E M Wong, S Hinson, R Brinkworth, A Bekessy, O Diez, L Izatt, E Solomon, M Jenkins, H Renard, J Hopper, P Waring, S V Tavtigian, D Goldgar, G J Lindeman, J E Visvader, F J Couch, B R Henderson, M Southey, G Chenevix-Trench, A B Spurdle, M A Brown
Mutations in hepatocyte nuclear factor-1β and their related phenotypes (1 June, 2005)
E L Edghill, C Bingham, S Ellard, A T Hattersley
Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation
(20 July, 2005) Free
B C Figueiredo, R Sandrini, G P Zambetti, R M Pereira, C Cheng, W Liu, L Lacerda, M A Pianovski, E Michalkiewicz, J Jenkins, C Rodriguez-Galindo, M J Mastellaro, S Vianna, F Watanabe, F Sandrini, S B I Arram, P Boffetta, R C Ribeiro