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Dermatology

Free Subscription Articles published in Hum Mutat Retrieve available abstracts of 24 articles: HTML format Text format

Single Articles

January 2010
1. CATUCCI I , Yang R, Verderio P, Pizzamiglio S, et al
   Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases.
   Hum Mutat. 2010;31:E1052-7.
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2. TCHATCHOU S , Riedel A, Lyer S, Schmutzhard J, et al
   Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity.
   Hum Mutat. 2010;31:60-6.
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3. LIM DH , Rehal PK, Nahorski MS, Macdonald F, et al
   A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
   Hum Mutat. 2010;31:E1043-51.
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   September 2009
4. FUSCO F , Paciolla M, Pescatore A, Lioi MB, et al
   Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.
   Hum Mutat. 2009;30:1284-91.
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5. WEI MH , Blake PW, Shevchenko J, Toro JR, et al
   The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dube syndrome.
   Hum Mutat. 2009;30:E880-90.
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   July 2009
6. BLAKE PW , Toro JR
   Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.
   Hum Mutat. 2009;30:1025-36.
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7. ALI AM , Kirby M, Jansen M, Lach FP, et al
   Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.
   Hum Mutat. 2009;30:E761-70.
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   June 2009
8. MITCHELL AL , Schwarze U, Jennings JF, Byers PH, et al
   Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
   Hum Mutat. 2009;30:995-1002.
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9. SCHMITT S , Kury S, Giraud M, Dreno B, et al
   An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.
   Hum Mutat. 2009;30:926-33.
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10. NGUYEN-DUMONT T , Calvez-Kelm FL, Forey N, McKay-Chopin S, et al
    Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.
    Hum Mutat. 2009;30:884-90.
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    May 2009
11. BORNHOLDT D , Oeffner F, Konig A, Happle R, et al
    PORCN mutations in focal dermal hypoplasia: coping with lethality.
    Hum Mutat. 2009;30:E618-28.
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12. ROTH W , Reuter U, Wohlenberg C, Bruckner-Tuderman L, et al
    Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex.
    Hum Mutat. 2009;30:832-41.
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    April 2009
13. SARKOZY A , Carta C, Moretti S, Zampino G, et al
    Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
    Hum Mutat. 2009;30:695-702.
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14. DEUQUET J , Abrami L, Difeo A, Ramirez MC, et al
    Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.
    Hum Mutat. 2009;30:583-9.
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    March 2009
15. BALAKRISHNAN A , Penachioni JY, Lamba S, Bleeker FE, et al
    Molecular profiling of the "plexinome" in melanoma and pancreatic cancer.
    Hum Mutat. 2009.
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16. KANNENGIESSER C , Brookes S, Del Arroyo AG, Pham D, et al
    Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
    Hum Mutat. 2009.
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17. BOTTA E , Nardo T, Orioli D, Guglielmino R, et al
    Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.
    Hum Mutat. 2009;30:438-45.
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18. ROSENBERGER G , Meien S, Kutsche K
    Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.
    Hum Mutat. 2009;30:352-62.
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    February 2009
19. SYMOENS S , Malfait F, Renard M, Andre J, et al
    COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
    Hum Mutat. 2009;30:E395-403.
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    January 2009
20. PEREZ OLIVA AB , Fernendez LP, Detorre C, Herraiz C, et al
    Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.
    Hum Mutat. 2009.
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21. VREESWIJK MP , Kraan JN, van der Klift HM, Vink GR, et al
    Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
    Hum Mutat. 2009;30:107-14.
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22. CALIGO MA , Bonatti F, Guidugli L, Aretini P, et al
    A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.
    Hum Mutat. 2009;30:123-33.
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23. HU Z , Liang J, Wang Z, Tian T, et al
    Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women.
    Hum Mutat. 2009;30:79-84.
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    December 2008
24. HERMAN ML , Farasat S, Steinbach PJ, Wei MH, et al
    Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1.
    Hum Mutat. 2008.
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