Dermatology

Citations 1-10 of 185 total displayed.

Review
Encephalocraniocutaneous lipomatosis

U Moog
J. Med. Genet. 2009 46: 721 -729; published online before print as 10.1136/jmg.2009.066068 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1

U Hüffmeier, J Lascorz, T Becker, F Schürmeier-Horst, A Magener, A B Ekici, S Endele, C T Thiel, S Thoma-Uszynski, R Mössner, K Reich, W Kurrat, T F Wienker, H Traupe, A Reis
J. Med. Genet. 2009 46: 736 -744; published online before print as 10.1136/jmg.2008.065029 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy

Y Bacq, C Gendrot, F Perrotin, L Lefrou, S Chrétien, V Vie-Buret, M-C Brechot, C R Andres
J. Med. Genet. 2009 46: 711 -715; published online before print as 10.1136/jmg.2009.067397 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation report
Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome

S M Maas, M P Lombardi, A J van Essen, E L Wakeling, B Castle, I K Temple, V K A Kumar, K Writzl, Raoul C M Hennekam
J. Med. Genet. 2009 46: 716 -720; published online before print as 10.1136/jmg.2009.068403 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation

A Ghalamkarpour, W Holnthoner, P Saharinen, L M Boon, J B Mulliken, K Alitalo, M Vikkula
J. Med. Genet. 2009 46: 399 -404; published online before print as 10.1136/jmg.2008.064469 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

S Farasat, M-H Wei, M Herman, D J Liewehr, S M Steinberg, S J Bale, P Fleckman, J R Toro
J. Med. Genet. 2009 46: 103 -111; published online before print as 10.1136/jmg.2008.060905 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy

D Araújo-Vilar, G Lattanzi, B González-Méndez, A T Costa-Freitas, D Prieto, M Columbaro, E Mattioli, B Victoria, N Martínez-Sánchez, A Ramazanova, M Fraga, A Beiras, J Forteza, L Domínguez-Gerpe, C Calvo, J Lado-Abeal
J. Med. Genet. 2009 46: 40 -48; published online before print as 10.1136/jmg.2008.059485 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits

L Kent, J Emerton, V Bhadravathi, E Weisblatt, G Pasco, L R Willatt, R McMahon, J R W Yates
J. Med. Genet. 2008 45: 519 -524; published online before print as 10.1136/jmg.2008.057729 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
CDKN2A mutations and melanoma risk in the Icelandic population

A M Goldstein, S N Stacey, J H Olafsson, G F Jonsson, A Helgason, P Sulem, B Sigurgeirsson, K R Benediktsdottir, K Thorisdottir, R Ragnarsson, J Kjartansson, J Kostic, G Masson, K Kristjansson, J R Gulcher, A Kong, U Thorsteinsdottir, T Rafnar, M A Tucker, K Stefansson
J. Med. Genet. 2008 45: 284 -289; published online before print as 10.1136/jmg.2007.055376 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
CYLD mutations in familial skin appendage tumours

S Saggar, K A Chernoff, S Lodha, L Horev, S Kohl, R S Honjo, H R C Brandt, K Hartmann, J T Celebi
J. Med. Genet. 2008 45: 298 -302; published online before print as 10.1136/jmg.2007.056127 [Abstract] [Full text] [PDF] [Request Permissions]