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	The Medical Article of the Year 2008: Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447:661-78. Free full-text

Dermatology

Free Subscription Articles published in Hum Mutat Retrieve available abstracts of 18 articles: HTML format

Single Articles

June 2008
1. FERNANDEZ LP , Milne RL, Pita G, Aviles JA, et al
   SLC45A2: a novel malignant melanoma-associated gene.
   Hum Mutat. 2008;.
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2. LI C , Zhao H, Hu Z, Liu Z, et al
   Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma.
   Hum Mutat. 2008;.
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   April 2008
3. BESARATINIA A , Pfeifer GP
   Sunlight ultraviolet irradiation and BRAF V600 mutagenesis in human melanoma.
   Hum Mutat. 2008;.
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   March 2008
4. BENTIVEGNA S , Zheng J, Namsaraev E, Carlton VE, et al
   Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD).
   Hum Mutat. 2008;29:441-50.
   PubMed     Related articles    Abstract available
   
   
   February 2008
5. TITEUX M , Pendaries V, Tonasso L, Decha A, et al
   A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa.
   Hum Mutat. 2008;29:267-76.
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6. BENVENUTI S , Frattini M, Arena S, Zanon C, et al
   PIK3CA cancer mutations display gender and tissue specificity patterns.
   Hum Mutat. 2008;29:284-8.
   PubMed     Related articles    Abstract available
   
   
   January 2008
7. VANAKKER OM , Leroy BP, Coucke P, Bercovitch LG, et al
   Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
   Hum Mutat. 2008;29:205.
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   December 2007
8. RAMUS SJ , Harrington PA, Pye C, DiCioccio RA, et al
   Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.
   Hum Mutat. 2007;28:1207-15.
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9. FRANK J , van Steensel MA, van Geel M
   Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?
   Hum Mutat. 2007;28:1241-2.
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   November 2007
10. AUCLAIR J , Leroux D, Desseigne F, Lasset C, et al
    Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
    Hum Mutat. 2007;28:1084-90.
    PubMed     Related articles    Abstract available
    
    
    October 2007
11. CHASSAING N , Martin L, Bourthoumieu S, Calvas P, et al
    Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.
    Hum Mutat. 2007;28:1046.
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    September 2007
12. XIAO M , Gordon MP, Phong A, Ha C, et al
    Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding.
    Hum Mutat. 2007;28:913-21.
    PubMed     Related articles    Abstract available
    
    
    July 2007
13. BAL E , Baala L, Cluzeau C, El Kerch F, et al
    Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
    Hum Mutat. 2007;28:703-9.
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    June 2007
14. HOCKER T , Tsao H
    Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variants.
    Hum Mutat. 2007;28:578-88.
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    May 2007
15. GERSTENBLITH MR , Goldstein AM, Fargnoli MC, Peris K, et al
    Comprehensive evaluation of allele frequency differences of MC1R variants across populations.
    Hum Mutat. 2007;28:495-505.
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16. OSORIO A , Milne RL, Honrado E, Barroso A, et al
    Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information.
    Hum Mutat. 2007;28:477-85.
    PubMed     Related articles    Abstract available
    
    
    April 2007
17. MALFAIT F , Symoens S, De Backer J, Hermanns-Le T, et al
    Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
    Hum Mutat. 2007;28:387-95.
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18. CABRAL WA , Makareeva E, Letocha AD, Scribanu N, et al
    Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
    Hum Mutat. 2007;28:396-405.
    PubMed     Related articles    Abstract available
    
    

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