These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

106 related articles for article (PubMed ID: 21465663)

  • 1. A novel X-linked phenotype caused by hypomorphic EBP mutations.
    Happle R
    Am J Med Genet A; 2011 Jul; 155A(7):1770-1; author reply 1772. PubMed ID: 21465663
    [No Abstract]   [Full Text] [Related]  

  • 2. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
    Furtado LV; Bayrak-Toydemir P; Hulinsky B; Damjanovich K; Carey JC; Rope AF
    Am J Med Genet A; 2010 Nov; 152A(11):2838-44. PubMed ID: 20949533
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
    Barboza-Cerda MC; Wong LJ; Martínez-de-Villarreal LE; Zhang VW; Déctor MA
    Am J Med Genet A; 2014 Jul; 164A(7):1642-7. PubMed ID: 24700572
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.
    Hartill VL; Tysoe C; Manning N; Dobbie A; Santra S; Walter J; Caswell R; Koster J; Waterham H; Hobson E
    Am J Med Genet A; 2014 Apr; 164A(4):907-14. PubMed ID: 24459067
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome.
    Shotelersuk V; Tongkobpetch S
    Clin Exp Dermatol; 2005 Jul; 30(4):419-21. PubMed ID: 15953085
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.
    Hellenbroich Y; Grzeschik KH; Krapp M; Jarutat T; Lehrmann-Petersen C; Buiting K; Gillessen-Kaesbach G
    Eur J Med Genet; 2007; 50(5):392-8. PubMed ID: 17625999
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
    Cañueto J; Girós M; Ciria S; Pi-Castán G; Artigas M; García-Dorado J; García-Patos V; Virós A; Vendrell T; Torrelo A; Hernández-Martín A; Martín-Hernández E; Garcia-Silva MT; Fernández-Burriel M; Rosell J; Tejedor M; Martínez F; Valero J; García JL; Sánchez-Tapia EM; Unamuno P; González-Sarmiento R
    Br J Dermatol; 2012 Apr; 166(4):830-8. PubMed ID: 22121851
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).
    Arnold AW; Bruckner-Tuderman L; Has C; Happle R
    Br J Dermatol; 2012 Jun; 166(6):1309-13. PubMed ID: 22229330
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Conradi-Hünermann-Happle syndrome.
    Hartman RD; Molho-Pessach V; Schaffer JV
    Dermatol Online J; 2010 Nov; 16(11):4. PubMed ID: 21163155
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.
    Ausavarat S; Tanpaiboon P; Tongkobpetch S; Suphapeetiporn K; Shotelersuk V
    Eur J Dermatol; 2008; 18(4):391-3. PubMed ID: 18573709
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome.
    Ikegawa S
    Am J Med Genet A; 2004 Sep; 130A(1):106. PubMed ID: 15368506
    [No Abstract]   [Full Text] [Related]  

  • 12. Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
    Lenski C; Abidi F; Meindl A; Gibson A; Platzer M; Frank Kooy R; Lubs HA; Stevenson RE; Ramser J; Schwartz CE
    Am J Hum Genet; 2004 Apr; 74(4):777-80. PubMed ID: 15024694
    [No Abstract]   [Full Text] [Related]  

  • 13. Familial syndrome resembling Aarskog syndrome.
    Xu M; Qi M; Zhou H; Yong J; Qiu H; Cong P; Hong X; Li C; Jiang Y; Chen X; Yu Y
    Am J Med Genet A; 2010 Aug; 152A(8):2017-22. PubMed ID: 20607856
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation.
    Bode H; Galm C; Hummler H; Teller C; Haas D; Gencik M
    Am J Med Genet A; 2013 Sep; 161A(9):2385-8. PubMed ID: 23852825
    [No Abstract]   [Full Text] [Related]  

  • 15. Novel SLC9A6 mutations in two families with Christianson syndrome.
    Riess A; Rossier E; Krüger R; Dufke A; Beck-Woedl S; Horber V; Alber M; Gläser D; Riess O; Tzschach A
    Clin Genet; 2013 Jun; 83(6):596-7. PubMed ID: 22931061
    [No Abstract]   [Full Text] [Related]  

  • 16. Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations.
    Takeichi T; Honda A; Okuno Y; Kojima D; Kono M; Nakamura Y; Tohyama M; Tanaka T; Aoyama Y; Akiyama M
    Br J Dermatol; 2018 Nov; 179(5):1186-1188. PubMed ID: 29851033
    [No Abstract]   [Full Text] [Related]  

  • 17. The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
    Seeger MA; Paller AS
    Biochim Biophys Acta; 2014 Mar; 1841(3):345-52. PubMed ID: 24060582
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.
    Derry JM; Gormally E; Means GD; Zhao W; Meindl A; Kelley RI; Boyd Y; Herman GE
    Nat Genet; 1999 Jul; 22(3):286-90. PubMed ID: 10391218
    [TBL] [Abstract][Full Text] [Related]  

  • 19. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
    Pacault M; Vincent M; Besnard T; Kannengiesser C; Bénéteau C; Barbarot S; Latypova X; Belabbas K; Lamazière A; Winer N; Joubert M; Bézieau S; Isidor B; Mercier S; Nizon M; Leclerc-Mercier S; Hadj-Rabia S; Dufernez F
    Eur J Hum Genet; 2018 Dec; 26(12):1784-1790. PubMed ID: 30135486
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.
    Morice-Picard F; Kostrzewa E; Wolf C; Benlian P; Taïeb A; Lacombe D
    Arch Dermatol; 2011 Sep; 147(9):1073-6. PubMed ID: 21931045
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.