| | Other Issues: previous | next | latest | archiveReview Camurati‐Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment 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, and W Van Hul PMCID: PMC2564495 Original Articles Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage 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, and J T Elder PMCID: PMC2564497 Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer 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, and J R Toro PMCID: PMC2564499 Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array‐CGH 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, and J P Dumanski PMCID: PMC2564500 Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma 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, and B Bressac‐de Paillerets PMCID: PMC2564502 Short Report Skewed X chromosome inactivation and early‐onset breast cancer J P Struewing, M A Pineda, M E Sherman, J Lissowska, L A Brinton, B Peplonska, A Bardin‐Mikolajczak, and M Garcia‐Closas PMCID: PMC1876702 Letters to JMG Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study 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, and J R Teyssier PMCID: PMC2564504 Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes G J Pazour, N Agrin, B L Walker, and G B Witman PMCID: PMC2593024 Genetic, functional, and histopathological evaluation of two C‐terminal BRCA1 missense variants 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, kConFab Investigators, 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, and M A Brown PMCID: PMC2564506 Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation 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, and R C Ribeiro PMCID: PMC2564508 Medical Genetics in Practice Mutations in hepatocyte nuclear factor‐1β and their related phenotypes E L Edghill, C Bingham, S Ellard, and A T Hattersley PMCID: PMC2564507 Electronic Letters Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24–25 M Geremek, E Ziętkiewicz, S R Diehl, B Z Alizadeh, C Wijmenga, and M Witt PMCID: PMC2564509 A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract A Arora, P J Minogue, X Liu, M A Reddy, J R Ainsworth, S S Bhattacharya, A R Webster, D M Hunt, L Ebihara, A T Moore, E C Beyer, and V M Berthoud PMCID: PMC2564510 Get Published within Days of Acceptance with JMG J Med Genet. 2006 January; 43(1): 11. PMCID: PMC2564496 Fillers J Med Genet. 2006 January; 43(1): 17. PMCID: PMC2564498 J Med Genet. 2006 January; 43(1): 38. PMCID: PMC2564501 J Med Genet. 2006 January; 43(1): 61. PMCID: PMC2564505 |
