Dermatology

A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase
B-E Kim, K Smith, M J Petris

Journal of Medical Genetics Apr 2003, 40 (4) 290-295; DOI: 10.1136/jmg.40.4.290
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
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
Nail patella syndrome: a review of the phenotype aided by developmental biology
E Sweeney, A Fryer, R Mountford, A Green, I McIntosh

Journal of Medical Genetics Mar 2003, 40 (3) 153-162; DOI: 10.1136/jmg.40.3.153
Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation
J J Cox, S T Holden, S Dee, J I Burbridge, F L Raymond

Journal of Medical Genetics Mar 2003, 40 (3) 169-174; DOI: 10.1136/jmg.40.3.169
Cancer risk in 348 French MSH2 or MLH1 gene carriers
Y Parc, C Boisson, G Thomas, S Olschwang

Journal of Medical Genetics Mar 2003, 40 (3) 208-213; DOI: 10.1136/jmg.40.3.208
From Aldrovandi’s “Homuncio” (1592) to Buffon’s girl (1749) and the “Wart Man” of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis?
M Ruggieri, A Polizzi

Journal of Medical Genetics Mar 2003, 40 (3) 227-232; DOI: 10.1136/jmg.40.3.227
Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl
G Barbi, C Spaich, S Adolph, H Kehrer-Sawatzki

Journal of Medical Genetics Mar 2003, 40 (3) e27; DOI: 10.1136/jmg.40.3.e27
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
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

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