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 *

168 related articles for article (PubMed ID: 9259286)

  • 21. A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.
    De Marco P; Raso A; Beri S; Gimelli S; Merello E; Mascelli S; Baldi M; Baffico AM; Pavanello M; Cama A; Capra V; Giorda R; Gimelli G
    Eur J Med Genet; 2011; 54(5):e478-83. PubMed ID: 21708297
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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; 161A(8):2078-83. PubMed ID: 23825006
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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; 43(5):251-5. PubMed ID: 19863427
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.
    Zackai EH; Stolle CA
    Am J Hum Genet; 1998 Nov; 63(5):1277-81. PubMed ID: 9792855
    [No Abstract]   [Full Text] [Related]  

  • 25. Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.
    El Ghouzzi V; Legeai-Mallet L; Benoist-Lasselin C; Lajeunie E; Renier D; Munnich A; Bonaventure J
    FEBS Lett; 2001 Mar; 492(1-2):112-8. PubMed ID: 11248247
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?
    Kosaki R; Higuchi M; Mitsui N; Matsushima K; Ohashi H; Kosaki K
    Congenit Anom (Kyoto); 2005 Mar; 45(1):35-8. PubMed ID: 15737130
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter.
    Touliatou V; Mavrou A; Kolialexi A; Kanavakis E; Kitsiou-Tzeli S
    Genet Couns; 2007; 18(3):295-301. PubMed ID: 18019370
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.
    Reid CS; McMorrow LE; McDonald-McGinn DM; Grace KJ; Ramos FJ; Zackai EH; Cohen MM; Jabs EW
    Am J Med Genet; 1993 Oct; 47(5):637-9. PubMed ID: 8266989
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene.
    Boeck A; Kosan C; Ciznar P; Kunz J
    Am J Med Genet; 2001 Nov; 104(1):53-6. PubMed ID: 11746028
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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; 41(3):250-5. PubMed ID: 15151448
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 14(1):39-48. PubMed ID: 16251895
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Women with Saethre-Chotzen syndrome are at increased risk of breast cancer.
    Sahlin P; Windh P; Lauritzen C; Emanuelsson M; Grönberg H; Stenman G
    Genes Chromosomes Cancer; 2007 Jul; 46(7):656-60. PubMed ID: 17437280
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.
    Cai J; Shoo BA; Sorauf T; Jabs EW
    Clin Genet; 2003 Jul; 64(1):79-82. PubMed ID: 12791045
    [No Abstract]   [Full Text] [Related]  

  • 34. Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome.
    Yousfi M; Lasmoles F; Lomri A; Delannoy P; Marie PJ
    J Clin Invest; 2001 May; 107(9):1153-61. PubMed ID: 11342579
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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; 43(2):142-7. PubMed ID: 16526917
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome.
    Foo R; Guo Y; McDonald-McGinn DM; Zackai EH; Whitaker LA; Bartlett SP
    Plast Reconstr Surg; 2009 Dec; 124(6):2085-2095. PubMed ID: 19952666
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.
    Spaggiari E; Aboura A; Sinico M; Mabboux P; Dupont C; Delezoide AL; Guimiot F
    Eur J Med Genet; 2012; 55(8-9):498-501. PubMed ID: 22569119
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma.
    Seifert G; Kress W; Meisel C; Henze G; Seeger K
    Cancer Genet Cytogenet; 2006 Nov; 171(1):76-8. PubMed ID: 17074596
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
    Woods RH; Ul-Haq E; Wilkie AOM; Jayamohan J; Richards PG; Johnson D; Lester T; Wall SA
    Plast Reconstr Surg; 2009 Jun; 123(6):1801-1810. PubMed ID: 19483581
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.
    Shimbo H; Oyoshi T; Kurosawa K
    Congenit Anom (Kyoto); 2018 Jan; 58(1):33-35. PubMed ID: 28220539
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.