Dermatology

A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy
C Gendrot, Y Bacq, M-C Brechot, J Lansac, C Andres

Journal of Medical Genetics Mar 2003, 40 (3) e32; DOI: 10.1136/jmg.40.3.e32
Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII
A C NICHOLLS, J L SHER, M J WRIGHT, C OLEY, R F MUELLER, F M POPE

Journal of Medical Genetics Nov 2000, 37 (11) e33; DOI: 10.1136/jmg.37.11.e33
Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1?
A-M Martin, P A Kanetsky, B Amirimani, T A Colligon, G Athanasiadis, H A Shih, M R Gerrero, K Calzone, T R Rebbeck, B L Weber

Journal of Medical Genetics Apr 2003, 40 (4) e34; DOI: 10.1136/jmg.40.4.e34
Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype
S Shackleton, D T Smallwood, P Clayton, L C Wilson, A K Agarwal, A Garg, R C Trembath

Journal of Medical Genetics Jun 2005, 42 (6) e36; DOI: 10.1136/jmg.2004.029751
Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
F Malfait, S Symoens, P Coucke, L Nunes, S De Almeida, A De Paepe

Journal of Medical Genetics Jul 2006, 43 (7) e36; DOI: 10.1136/jmg.2005.038224
Studies on the pathogenesis of Costello syndrome
G M S Mancini, O P van Diggelen, W J Kleijer, M Di Rocco, V Farina, M Yuksel-Apak, H Kayserili, D J J Halley

Journal of Medical Genetics Apr 2003, 40 (4) e37; DOI: 10.1136/jmg.40.4.e37
STK11 status and intussusception risk in Peutz-Jeghers syndrome
N Hearle, V Schumacher, F H Menko, S Olschwang, L A Boardman, J J P Gille, J J Keller, A M Westerman, R J Scott, W Lim, J D Trimbath, F M Giardiello, S B Gruber, G J A Offerhaus, F W M D E Rooij, J H P Wilson, A Hansmann, G Möslein, B Royer-Pokora, T Vogel, R K S Phillips, A D Spigelman, R S Houlston

Journal of Medical Genetics Aug 2006, 43 (8) e41; DOI: 10.1136/jmg.2005.040535
A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders
M Hesse, T Berg, B Wiedenmann, U Spengler, R P Woitas, T M Magin

Journal of Medical Genetics Apr 2004, 41 (4) e42; DOI: 10.1136/jmg.2003.012393
Functional analysis of novel SLC11A1 (NRAMP1) promoter variants in susceptibility to HIV-1
H Donninger, T J Cashmore, T Scriba, D C Petersen, E Janse van Rensburg, V M Hayes

Journal of Medical Genetics Apr 2004, 41 (4) e49; DOI: 10.1136/jmg.2003.013318
Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect
K Brockmann, R Böhm, J Bürger

Journal of Medical Genetics Sep 2002, 39 (9) e51; DOI: 10.1136/jmg.39.9.e51

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