BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 25036569)

  • 1. Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).
    Yang J; Chandrasekharappa SC; Vilboux T; Smith AC; Peterson EJ
    J Clin Rheumatol; 2014 Aug; 20(5):291-3. PubMed ID: 25036569
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
    Chinen J; Martinez-Gallo M; Gu W; Cols M; Cerutti A; Radigan L; Zhang L; Potocki L; Withers M; Lupski JR; Cunningham-Rundles C
    J Allergy Clin Immunol; 2011 Jun; 127(6):1579-86. PubMed ID: 21514638
    [TBL] [Abstract][Full Text] [Related]  

  • 3. TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.
    Romberg N; Virdee M; Chamberlain N; Oe T; Schickel JN; Perkins T; Cantaert T; Rachid R; Rosengren S; Palazzo R; Geha R; Cunningham-Rundles C; Meffre E
    J Allergy Clin Immunol; 2015 Nov; 136(5):1315-25. PubMed ID: 26100089
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.
    Perkins T; Rosenberg JM; Le Coz C; Alaimo JT; Trofa M; Mullegama SV; Antaya RJ; Jyonouchi S; Elsea SH; Utz PJ; Meffre E; Romberg N
    J Allergy Clin Immunol Pract; 2017; 5(5):1344-1350.e3. PubMed ID: 28286158
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
    Vilboux T; Ciccone C; Blancato JK; Cox GF; Deshpande C; Introne WJ; Gahl WA; Smith AC; Huizing M
    PLoS One; 2011; 6(8):e22861. PubMed ID: 21857958
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Transmembrane Activator and Caml Interactor (Taci) Haploinsufficiency in B-Cell Dysfunction in a Patient with Smith-Magenis Syndrome.
    Karaca E; Atik T; Alpman Durmaz A; Ozkinay F; Cogulu O
    Genet Couns; 2016; 27(2):251-4. PubMed ID: 29485832
    [No Abstract]   [Full Text] [Related]  

  • 7. Prenatal diagnosis and neonatal phenotype of a
    Zhang P; Sun Y; Tian H; Rong L; Wang F; Yu X; Li Y; Gao J
    J Genet; 2020; 99():. PubMed ID: 32661203
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.
    Maya I; Vinkler C; Konen O; Kornreich L; Steinberg T; Yeshaya J; Latarowski V; Shohat M; Lev D; Baris HN
    Am J Med Genet A; 2014 Aug; 164A(8):1940-6. PubMed ID: 24788350
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Antiphospholipid syndrome in combination with autoimmune hepatitis.
    Hueber AJ; Boxberger F; Ganslmayer M; Hahn EG
    Eur J Gastroenterol Hepatol; 2005 Feb; 17(2):241-3. PubMed ID: 15674104
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lupus-related hepatitis: complication of lupus or autoimmune association? Case report and review of the literature.
    Kaw R; Gota C; Bennett A; Barnes D; Calabrese L
    Dig Dis Sci; 2006 Apr; 51(4):813-8. PubMed ID: 16615009
    [No Abstract]   [Full Text] [Related]  

  • 11. A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.
    Tug E; Cine N; Aydin H
    Genet Couns; 2011; 22(1):11-9. PubMed ID: 21614983
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.
    Goh ES; Banwell B; Stavropoulos DJ; Shago M; Yoon G
    Am J Med Genet A; 2014 Mar; 164A(3):748-52. PubMed ID: 24357149
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.
    Yeetong P; Vilboux T; Ciccone C; Boulier K; Schnur RE; Gahl WA; Huizing M; Laje G; Smith AC
    Am J Med Genet A; 2016 Sep; 170(9):2383-8. PubMed ID: 27311559
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
    Vieira GH; Rodriguez JD; Carmona-Mora P; Cao L; Gamba BF; Carvalho DR; de Rezende Duarte A; Santos SR; de Souza DH; DuPont BR; Walz K; Moretti-Ferreira D; Srivastava AK
    Eur J Hum Genet; 2012 Feb; 20(2):148-54. PubMed ID: 21897445
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects.
    Lei TY; Li R; Fu F; Wan JH; Zhang YL; Jing XY; Liao C
    Taiwan J Obstet Gynecol; 2016 Dec; 55(6):886-890. PubMed ID: 28040141
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
    Gropman AL; Duncan WC; Smith AC
    Pediatr Neurol; 2006 May; 34(5):337-50. PubMed ID: 16647992
    [TBL] [Abstract][Full Text] [Related]  

  • 17. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
    Girirajan S; Elsas LJ; Devriendt K; Elsea SH
    J Med Genet; 2005 Nov; 42(11):820-8. PubMed ID: 15788730
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Clinical and genetic study of a case with Smith-Magenis syndrome].
    Shen LX; Zhang JS; Ji X; Xing Y; Hu J; Tao J; Xiao B
    Zhonghua Er Ke Za Zhi; 2012 Mar; 50(3):227-30. PubMed ID: 22801211
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
    Rinaldi B; Villa R; Sironi A; Garavelli L; Finelli P; Bedeschi MF
    Genes (Basel); 2022 Feb; 13(2):. PubMed ID: 35205380
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.
    Huang C; Yang YF; Zhang H; Xie L; Chen JL; Wang J; Tan ZP; Luo H
    Genet Mol Res; 2012 Aug; 11(3):2321-7. PubMed ID: 22911601
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.