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Dermatology

Free Subscription Articles published in Hum Mutat Retrieve available abstracts of 14 articles: HTML format Text format

Single Articles

October 2011
1. COTTON RG
   Rare disease registries and mutation/variation databases.
   Hum Mutat. 2011;32:1073-4.
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   July 2011
2. MUCAKI EJ , Ainsworth P, Rogan PK
   Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.
   Hum Mutat. 2011;32:735-42.
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3. LOMBARDI MP , Bulk S, Celli J, Lampe A, et al
   Mutation update for the PORCN gene.
   Hum Mutat. 2011;32:723-8.
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4. ZHOU C , Zang D, Jin Y, Wu H, et al
   Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.
   Hum Mutat. 2011;32:710-4.
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   June 2011
5. WEI X , Moncada-Pazos A, Cal S, Soria-Valles C, et al
   Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma.
   Hum Mutat. 2011;32:E2148-75.
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6. HELLEBRAND H , Sutter C, Honisch E, Gross E, et al
   Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.
   Hum Mutat. 2011;32:E2176-88.
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7. VOGT J , Kohlhase J, Morlot S, Kluwe L, et al
   Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.
   Hum Mutat. 2011;32:E2134-47.
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   April 2011
8. CALLEWAERT B , Renard M, Hucthagowder V, Albrecht B, et al
   New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
   Hum Mutat. 2011;32:445-55.
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9. HEINEMANN A , He Y, Zimina E, Boerries M, et al
   Induction of phenotype modifying cytokines by FERMT1 mutations.
   Hum Mutat. 2011;32:397-406.
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   January 2011
10. DENAYER E , Chmara M, Brems H, Kievit AM, et al
    Legius syndrome in fourteen families.
    Hum Mutat. 2011;32:E1985-98.
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11. CLUZEAU C , Hadj-Rabia S, Jambou M, Mansour S, et al
    Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
    Hum Mutat. 2011;32:70-2.
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12. GREMER L , Merbitz-Zahradnik T, Dvorsky R, Cirstea IC, et al
    Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
    Hum Mutat. 2011;32:33-43.
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    October 2010
13. ATEN E , Brasz LC, Bornholdt D, Hooijkaas IB, et al
    Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
    Hum Mutat. 2010;31:1125-33.
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14. NATSUGA K , Nishie W, Shinkuma S, Arita K, et al
    Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.
    Hum Mutat. 2010;31:E1687-98.
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