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 *

484 related articles for article (PubMed ID: 11120765)

  • 1. JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.
    Chatila TA; Blaeser F; Ho N; Lederman HM; Voulgaropoulos C; Helms C; Bowcock AM
    J Clin Invest; 2000 Dec; 106(12):R75-81. PubMed ID: 11120765
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The dimerization domain of HNF-1alpha: structure and plasticity of an intertwined four-helix bundle with application to diabetes mellitus.
    Narayana N; Hua Q; Weiss MA
    J Mol Biol; 2001 Jul; 310(3):635-58. PubMed ID: 11439029
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.
    Tiller GE; Hannig VL; Dozier D; Carrel L; Trevarthen KC; Wilcox WR; Mundlos S; Haines JL; Gedeon AK; Gecz J
    Am J Hum Genet; 2001 Jun; 68(6):1398-407. PubMed ID: 11326333
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
    Bennett CL; Christie J; Ramsdell F; Brunkow ME; Ferguson PJ; Whitesell L; Kelly TE; Saulsbury FT; Chance PF; Ochs HD
    Nat Genet; 2001 Jan; 27(1):20-1. PubMed ID: 11137993
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene.
    Torgerson TR; Linane A; Moes N; Anover S; Mateo V; Rieux-Laucat F; Hermine O; Vijay S; Gambineri E; Cerf-Bensussan N; Fischer A; Ochs HD; Goulet O; Ruemmele FM
    Gastroenterology; 2007 May; 132(5):1705-17. PubMed ID: 17484868
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).
    Orrico A; Galli L; Falciani M; Bracci M; Cavaliere ML; Rinaldi MM; Musacchio A; Sorrentino V
    FEBS Lett; 2000 Aug; 478(3):216-20. PubMed ID: 10930571
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
    Bolz H; von Brederlow B; Ramírez A; Bryda EC; Kutsche K; Nothwang HG; Seeliger M; del C-Salcedó Cabrera M; Vila MC; Molina OP; Gal A; Kubisch C
    Nat Genet; 2001 Jan; 27(1):108-12. PubMed ID: 11138009
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.
    Zeniou M; Pannetier S; Fryns JP; Hanauer A
    Am J Hum Genet; 2002 Jun; 70(6):1421-33. PubMed ID: 11992250
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
    Miano MG; Testa F; Filippini F; Trujillo M; Conte I; Lanzara C; Millán JM; De Bernardo C; Grammatico B; Mangino M; Torrente I; Carrozzo R; Simonelli F; Rinaldi E; Ventruto V; D'Urso M; Ayuso C; Ciccodicola A
    Hum Mutat; 2001 Aug; 18(2):109-19. PubMed ID: 11462235
    [TBL] [Abstract][Full Text] [Related]  

  • 10. JEM-1, a novel gene encoding a leucine-zipper nuclear factor upregulated during retinoid-induced maturation of NB4 promyelocytic leukaemia.
    Duprez E; Tong JH; Dérré J; Chen SJ; Berger R; Chen Z; Lanotte M
    Oncogene; 1997 Apr; 14(13):1563-70. PubMed ID: 9129147
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
    Wada T; Kubota T; Fukushima Y; Saitoh S
    Am J Med Genet; 2000 Sep; 94(3):242-8. PubMed ID: 10995512
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
    Pusch CM; Zeitz C; Brandau O; Pesch K; Achatz H; Feil S; Scharfe C; Maurer J; Jacobi FK; Pinckers A; Andreasson S; Hardcastle A; Wissinger B; Berger W; Meindl A
    Nat Genet; 2000 Nov; 26(3):324-7. PubMed ID: 11062472
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
    Hertz JM; Juncker I; Persson U; Matthijs G; Schmidtke J; Petersen MB; Kjeldsen M; Gregersen N
    Hum Mutat; 2001 Aug; 18(2):141-8. PubMed ID: 11462238
    [TBL] [Abstract][Full Text] [Related]  

  • 14. FOXP3 is a homo-oligomer and a component of a supramolecular regulatory complex disabled in the human XLAAD/IPEX autoimmune disease.
    Li B; Samanta A; Song X; Iacono KT; Brennan P; Chatila TA; Roncador G; Banham AH; Riley JL; Wang Q; Shen Y; Saouaf SJ; Greene MI
    Int Immunol; 2007 Jul; 19(7):825-35. PubMed ID: 17586580
    [TBL] [Abstract][Full Text] [Related]  

  • 15. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.
    Wildin RS; Ramsdell F; Peake J; Faravelli F; Casanova JL; Buist N; Levy-Lahad E; Mazzella M; Goulet O; Perroni L; Bricarelli FD; Byrne G; McEuen M; Proll S; Appleby M; Brunkow ME
    Nat Genet; 2001 Jan; 27(1):18-20. PubMed ID: 11137992
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification and functional analysis of mutations in the hepatocyte nuclear factor-1alpha gene in anti-islet autoantibody-negative Japanese patients with type 1 diabetes.
    Kawasaki E; Sera Y; Yamakawa K; Abe T; Ozaki M; Uotani S; Ohtsu N; Takino H; Yamasaki H; Yamaguchi Y; Matsuura N; Eguchi K
    J Clin Endocrinol Metab; 2000 Jan; 85(1):331-5. PubMed ID: 10634407
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
    de Kok YJ; van der Maarel SM; Bitner-Glindzicz M; Huber I; Monaco AP; Malcolm S; Pembrey ME; Ropers HH; Cremers FP
    Science; 1995 Feb; 267(5198):685-8. PubMed ID: 7839145
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
    Jin H; May M; Tranebjaerg L; Kendall E; Fontán G; Jackson J; Subramony SH; Arena F; Lubs H; Smith S; Stevenson R; Schwartz C; Vetrie D
    Nat Genet; 1996 Oct; 14(2):177-80. PubMed ID: 8841189
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant.
    Bellacchio E; Palma A; Corrente S; Di Girolamo F; Helen Kemp E; Di Matteo G; Comelli L; Carsetti R; Cascioli S; Cancrini C; Fierabracci A
    Gene; 2014 Oct; 549(2):286-94. PubMed ID: 25068407
    [TBL] [Abstract][Full Text] [Related]  

  • 20. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.
    Delépine M; Nicolino M; Barrett T; Golamaully M; Lathrop GM; Julier C
    Nat Genet; 2000 Aug; 25(4):406-9. PubMed ID: 10932183
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.