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Journal Abstract Search

276 related items for PubMed ID: 12116251

  • 1. Genetic analysis of patients with the Saethre-Chotzen phenotype.
    Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I.
    Am J Med Genet; 2002 Jun 15; 110(2):136-43. PubMed ID: 12116251
    [Abstract] [Full Text] [Related]

  • 2. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
    Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M, Jabs EW.
    Am J Hum Genet; 1998 Jun 15; 62(6):1370-80. PubMed ID: 9585583
    [Abstract] [Full Text] [Related]

  • 3. Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
    Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW.
    Hum Genet; 2003 Dec 15; 114(1):68-76. PubMed ID: 14513358
    [Abstract] [Full Text] [Related]

  • 4. The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.
    Rose CS, Patel P, Reardon W, Malcolm S, Winter RM.
    Hum Mol Genet; 1997 Aug 15; 6(8):1369-73. PubMed ID: 9259286
    [Abstract] [Full Text] [Related]

  • 5. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
    Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW.
    Nat Genet; 1997 Jan 15; 15(1):36-41. PubMed ID: 8988166
    [Abstract] [Full Text] [Related]

  • 6. Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.
    de Heer IM, de Klein A, van den Ouweland AM, Vermeij-Keers C, Wouters CH, Vaandrager JM, Hovius SE, Hoogeboom JM.
    Plast Reconstr Surg; 2005 Jun 15; 115(7):1894-902; discussion 1903-5. PubMed ID: 15923834
    [Abstract] [Full Text] [Related]

  • 7. Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
    El Ghouzzi V, Lajeunie E, Le Merrer M, Cormier-Daire V, Renier D, Munnich A, Bonaventure J.
    Eur J Hum Genet; 1999 Jan 15; 7(1):27-33. PubMed ID: 10094188
    [Abstract] [Full Text] [Related]

  • 8. Germline mutation screening of the Saethre-Chotzen-associated genes TWIST1 and FGFR3 in families with BRCA1/2-negative breast cancer.
    Bergman A, Sahlin P, Emanuelsson M, Carén H, Tarnow P, Martinsson T, Grönberg H, Stenman G.
    Scand J Plast Reconstr Surg Hand Surg; 2009 Jan 15; 43(5):251-5. PubMed ID: 19863427
    [Abstract] [Full Text] [Related]

  • 9. Mutations in the human TWIST gene.
    Gripp KW, Zackai EH, Stolle CA.
    Hum Mutat; 2000 Jan 15; 15(2):150-5. PubMed ID: 10649491
    [Abstract] [Full Text] [Related]

  • 10. Deletion of the TWIST gene in a large five-generation family.
    De Heer IM, Hoogeboom AJ, Eussen HJ, Vaandrager JM, De Klein A.
    Clin Genet; 2004 May 15; 65(5):396-9. PubMed ID: 15099347
    [Abstract] [Full Text] [Related]

  • 11. Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.
    Jadico SK, Huebner A, McDonald-McGinn DM, Zackai EH, Young TL.
    J AAPOS; 2006 Oct 15; 10(5):435-44. PubMed ID: 17070479
    [Abstract] [Full Text] [Related]

  • 12. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
    Kress W, Schropp C, Lieb G, Petersen B, Büsse-Ratzka M, Kunz J, Reinhart E, Schäfer WD, Sold J, Hoppe F, Pahnke J, Trusen A, Sörensen N, Krauss J, Collmann H.
    Eur J Hum Genet; 2006 Jan 15; 14(1):39-48. PubMed ID: 16251895
    [Abstract] [Full Text] [Related]

  • 13. A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.
    Gripp KW, Kasparcova V, McDonald-McGinn DM, Bhatt S, Bartlett SP, Storm AL, Drumheller TC, Emanuel BS, Zackai EH, Stolle CA.
    Genet Med; 2001 Jan 15; 3(2):102-8. PubMed ID: 11280946
    [Abstract] [Full Text] [Related]

  • 14. Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome.
    Carver EA, Oram KF, Gridley T.
    Anat Rec; 2002 Oct 01; 268(2):90-2. PubMed ID: 12221714
    [Abstract] [Full Text] [Related]

  • 15. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.
    Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SR, Walsh S, Barrow M, Njølstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L, Wilkie AO.
    Am J Hum Genet; 1998 Nov 01; 63(5):1282-93. PubMed ID: 9792856
    [Abstract] [Full Text] [Related]

  • 16. Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.
    Cho E, Yang TH, Shin ES, Byeon JH, Kim GH, Eun BL.
    Childs Nerv Syst; 2013 Nov 01; 29(11):2101-4. PubMed ID: 23958897
    [Abstract] [Full Text] [Related]

  • 17. Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity.
    Freitas EC, Nascimento SR, de Mello MP, Gil-da-Silva-Lopes VL.
    Cleft Palate Craniofac J; 2006 Mar 01; 43(2):142-7. PubMed ID: 16526917
    [Abstract] [Full Text] [Related]

  • 18. Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations.
    Nascimento SR, de Mello MP, Batista JC, Balarin MA, Lopes VL.
    Cleft Palate Craniofac J; 2004 May 01; 41(3):250-5. PubMed ID: 15151448
    [Abstract] [Full Text] [Related]

  • 19. Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.
    Shimada S, Okamoto N, Nomura S, Fukui M, Shimakawa S, Sangu N, Shimojima K, Osawa M, Yamamoto T.
    Am J Med Genet A; 2013 Aug 01; 161A(8):2078-83. PubMed ID: 23825006
    [Abstract] [Full Text] [Related]

  • 20. A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome.
    Guenou H, Kaabeche K, Mée SL, Marie PJ.
    Hum Mol Genet; 2005 Jun 01; 14(11):1429-39. PubMed ID: 15829502
    [Abstract] [Full Text] [Related]

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