Dermatology

Absence of germline p16 ^INK4a alterations in p53 wild type Li-Fraumeni syndrome families
CAROL PORTWINE, JODI LEES, SIGITAS VERSELIS, FREDERICK P LI, DAVID MALKIN

Journal of Medical Genetics Aug 2000, 37 (8) e13; DOI: 10.1136/jmg.37.8.e13
Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure
E Matichard, P Verpillat, R Meziani, B Gérard, V Descamps, E Legroux, M Burnouf, G Bertrand, F Bouscarat, A Archimbaud, C Picard, L Ollivaud, N Basset-Seguin, D Kerob, G Lanternier, C Lebbe, B Crickx, B Grandchamp, N Soufir

Journal of Medical Genetics Feb 2004, 41 (2) e13; DOI: 10.1136/jmg.2003.011536
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes
M Vytopil, S Benedetti, E Ricci, G Galluzzi, A Dello Russo, L Merlini, G Boriani, M Gallina, L Morandi, L Politano, M Moggio, L Chiveri, I Hausmanova-Petrusewicz, R Ricotti, S Vohanka, J Toman, D Toniolo

Journal of Medical Genetics Dec 2003, 40 (12) e132; DOI: 10.1136/jmg.40.12.e132
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene
I Dianzani, E Garelli, P Gustavsson, A Carando, B Gustafsson, N Dahl, G Annerén

Journal of Medical Genetics Dec 2003, 40 (12) e133; DOI: 10.1136/jmg.40.12.e133
Mutational analysis of N-ras, p53, CDKN2A (p16^INK4a), p14^ARF, CDK4, and MC1R genes in human dysplastic melanocytic naevi
T Papp, H Pemsel, I Rollwitz, H Schipper, D G Weiss, D Schiffmann, R Zimmermann

Journal of Medical Genetics Feb 2003, 40 (2) e14; DOI: 10.1136/jmg.40.2.e14
Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome
N C M Hearle, M F Rudd, W Lim, V Murday, A G Lim, R K Phillips, P W Lee, J O’Donohue, P J Morrison, A Norman, S V Hodgson, A Lucassen, R S Houlston

Journal of Medical Genetics Apr 2006, 43 (4) e15; DOI: 10.1136/jmg.2005.036830
Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome
X (R) Yang, R M Pfeiffer, A M Goldstein

Journal of Medical Genetics Apr 2006, 43 (4) e16; DOI: 10.1136/jmg.2005.035006
Mutational spectrum of NSDHL in CHILD syndrome
D Bornholdt, A König, R Happle, L Leveleki, M Bittar, R Danarti, A Vahlquist, W Tilgen, U Reinhold, A Poiares Baptista, É Grosshans, P Vabres, S Niiyama, K Sasaoka, T Tanaka, A L Meiss, P A Treadwell, D Lambert, F Camacho, K-H Grzeschik

Journal of Medical Genetics Feb 2005, 42 (2) e17; DOI: 10.1136/jmg.2004.024448
Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease
Y M Smulders, B H J Eussen, S Verhoef, C H Wouters

Journal of Medical Genetics Feb 2003, 40 (2) e17; DOI: 10.1136/jmg.40.2.e17
LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome
E Volikos, J Robinson, K Aittomäki, J-P Mecklin, H Järvinen, A M Westerman, F W M de Rooji, T Vogel, G Moeslein, V Launonen, I P M Tomlinson, A R J Silver, L A Aaltonen

Journal of Medical Genetics May 2006, 43 (5) e18; DOI: 10.1136/jmg.2005.039875

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