BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

245 related articles for article (PubMed ID: 22584530)

  • 1. A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities.
    Farkas K; Nagy N; Kinyó A; Kemény L; Széll M
    Arch Dermatol Res; 2012 Oct; 304(8):679-81. PubMed ID: 22584530
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript.
    Ramot Y; Horev L; Smolovich I; Molho-Pessach V; Zlotogorski A
    Exp Dermatol; 2010 Aug; 19(8):e320-2. PubMed ID: 20163456
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a novel U2HR mutation c.14C>T in a Chinese patient with Marie Unna hereditary hypotrichosis.
    Zhou C; Zang D; Ma X; Huang H; Jin Y; Zhang J
    Eur J Dermatol; 2012; 22(1):34-5. PubMed ID: 22155146
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.
    Redler S; Kruse R; Eigelshoven S; Hanneken S; Refke M; Wen Y; Zhang X; Cichon S; Betz RC; Nöthen MM
    J Am Acad Dermatol; 2011 Apr; 64(4):e45-50. PubMed ID: 20659777
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis.
    Lefevre P; Rochat A; Bodemer C; Vabres P; Barrandon Y; de Prost Y; Garner C; Hovnanian A
    Eur J Hum Genet; 2000 Apr; 8(4):273-9. PubMed ID: 10854110
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review.
    Yang J; Liang Y; Zeng K; Huang L; Zheng M
    Int J Dermatol; 2014 Feb; 53(2):206-9. PubMed ID: 24261346
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
    Naz G; Khan B; Ali G; Azeem Z; Wali A; Ansar M; Ahmad W
    J Dermatol Sci; 2009 Apr; 54(1):12-6. PubMed ID: 19167195
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis.
    Kim JK; Kim E; Baek IC; Kim BK; Cho AR; Kim TY; Song CW; Seong JK; Yoon JB; Stenn KS; Parimoo S; Yoon SK
    Hum Mol Genet; 2010 Feb; 19(3):445-53. PubMed ID: 19897589
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.
    Düzenli S; Redler S; Müller M; Polat M; Dogruer D; Pasternack SM; Betz RC
    Clin Exp Dermatol; 2009 Dec; 34(8):e953-6. PubMed ID: 20055871
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.
    Yun SK; Cho YG; Song KH; Hwang SR; Kim Yoon SJ; Choi KW; Kim HU; Park J
    Int J Dermatol; 2014 Nov; 53(11):1358-61. PubMed ID: 24961381
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.
    Tariq M; Ayub M; Jelani M; Basit S; Naz G; Wasif N; Raza SI; Naveed AK; ullah Khan S; Azeem Z; Yasinzai M; Wali A; Ali G; Chishti MS; Ahmad W
    Br J Dermatol; 2009 May; 160(5):1006-10. PubMed ID: 19292720
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of mutations in the human hairless gene in two new families with congenital atrichia.
    Betz RC; Indelman M; Pforr J; Schreiner F; Bauer R; Bergman R; Lentze MJ; Nöthen MM; Cichon S; Sprecher E
    Arch Dermatol Res; 2007 Jun; 299(3):157-61. PubMed ID: 17372750
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
    Spiegl B; Hundeiker M
    Fortschr Med; 1979 Nov; 97(44):2018-22. PubMed ID: 511082
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
    Khan S; Habib R; Mir H; Umm-e-Kalsoom ; Naz G; Ayub M; Shafique S; Yamin T; Ali N; Basit S; Wasif N; Kamran-Ul-Hassan Naqvi S; Ali G; Wali A; Ansar M; Ahmad W
    Clin Exp Dermatol; 2011 Aug; 36(6):652-4. PubMed ID: 21426374
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Progressive patterned scalp hypotrichosis, with wiry hair, onycholysis, and intermittently associated cleft lip and palate: clinical and genetic distinction from Marie Unna.
    Green J; Fitzpatrick E; de Berker D; Forrest SM; Sinclair RD
    J Investig Dermatol Symp Proc; 2003 Jun; 8(1):121-5. PubMed ID: 12895008
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
    Nucara S; Colao E; Mangone G; Baudi F; Fabiani F; Nocera D; Passafaro G; Longo T; Laria AE; Malatesta P; Amato R; Trapasso F; Perrotti N
    Dermatol Online J; 2011 Jan; 17(1):3. PubMed ID: 21272494
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
    Zhang X; Guo BR; Cai LQ; Jiang T; Sun LD; Cui Y; Hu JC; Zhu J; Chen G; Tang XF; Sun GQ; Tang HY; Liu Y; Li M; Li QB; Cheng H; Gao M; Li P; Yang X; Zuo XB; Zheng XD; Wang PG; Wang J; Wang J; Liu JJ; Yang S; Li YR; Zhang XJ
    J Med Genet; 2012 Dec; 49(12):727-30. PubMed ID: 23099647
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis.
    Zhong Z; Zhong M; Lu Y; Lu L; Wang J; Xu D; Wang F; Xu G; Chen J
    Clin Exp Dermatol; 2016 Mar; 41(2):175-8. PubMed ID: 26269244
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3.
    He PP; Zhang XJ; Yang Q; Li M; Liang YH; Yang S; Yan KL; Cui Y; Shen YY; Wang HY; Sun LD; Du WH; Shen YJ; Xu SJ; Huang W
    Br J Dermatol; 2004 May; 150(5):837-42. PubMed ID: 15149494
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene.
    Wali A; Ansar M; Khan MN; Ahmad W
    Clin Exp Dermatol; 2006 Sep; 31(5):695-8. PubMed ID: 16901311
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.