BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

242 related articles for article (PubMed ID: 19863427)

  • 1. 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]  

  • 2. Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer.
    Sahlin P; Tarnow P; Martinsson T; Stenman G
    Genes Chromosomes Cancer; 2009 Mar; 48(3):285-8. PubMed ID: 19025794
    [No Abstract]   [Full Text] [Related]  

  • 3. Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
    Roscioli T; Elakis G; Cox TC; Moon DJ; Venselaar H; Turner AM; Le T; Hackett E; Haan E; Colley A; Mowat D; Worgan L; Kirk EP; Sachdev R; Thompson E; Gabbett M; McGaughran J; Gibson K; Gattas M; Freckmann ML; Dixon J; Hoefsloot L; Field M; Hackett A; Kamien B; Edwards M; Adès LC; Collins FA; Wilson MJ; Savarirayan R; Tan TY; Amor DJ; McGillivray G; White SM; Glass IA; David DJ; Anderson PJ; Gianoutsos M; Buckley MF
    Am J Med Genet C Semin Med Genet; 2013 Nov; 163C(4):259-70. PubMed ID: 24127277
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 110(2):136-43. PubMed ID: 12116251
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 14(11):1429-39. PubMed ID: 15829502
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and genetic characteristics of craniosynostosis in Hungary.
    Bessenyei B; Nagy A; Szakszon K; Mokánszki A; Balogh E; Ujfalusi A; Tihanyi M; Novák L; Bognár L; Oláh É
    Am J Med Genet A; 2015 Dec; 167A(12):2985-91. PubMed ID: 26289989
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations.
    Ko JM; Jeong SY; Yang JA; Park DH; Yoon SH
    Plast Reconstr Surg; 2012 May; 129(5):814e-821e. PubMed ID: 22544111
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
    Paumard-Hernández B; Berges-Soria J; Barroso E; Rivera-Pedroza CI; Pérez-Carrizosa V; Benito-Sanz S; López-Messa E; Santos F; García-Recuero II; Romance A; Ballesta-Martínez JM; López-González V; Campos-Barros Á; Cruz J; Guillén-Navarro E; Sánchez Del Pozo J; Lapunzina P; García-Miñaur S; Heath KE
    Eur J Hum Genet; 2015 Jul; 23(7):907-14. PubMed ID: 25271085
    [TBL] [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; 10(5):435-44. PubMed ID: 17070479
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Saethre-Chotzen syndrome: a case report.
    Peña WA; Slavotinek A; Oberoi S
    Cleft Palate Craniofac J; 2010 May; 47(3):318-21. PubMed ID: 19860490
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
    James PA; Culling B; Mullan G; Jenkins M; Elakis G; Turner AM; Mowat DM; Wilson M; Anderson P; Savarirayan R; Cliffe ST; Caramins M; Buckley MF; Tucker K; Roscioli T
    Genes Chromosomes Cancer; 2009 Jul; 48(7):533-8. PubMed ID: 19373776
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
    Lee E; Le T; Zhu Y; Elakis G; Turner A; Lo W; Venselaar H; Verrenkamp CA; Snow N; Mowat D; Kirk EP; Sachdev R; Smith J; Brown NJ; Wallis M; Barnett C; McKenzie F; Freckmann ML; Collins F; Chopra M; Gregersen N; Hayes I; Rajagopalan S; Tan TY; Stark Z; Savarirayan R; Yeung A; Adès L; Gattas M; Gibson K; Gabbett M; Amor DJ; Lattanzi W; Boyd S; Haan E; Gianoutsos M; Cox TC; Buckley MF; Roscioli T
    Genet Med; 2018 Sep; 20(9):1061-1068. PubMed ID: 29215649
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 62(6):1370-80. PubMed ID: 9585583
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome.
    Oram KF; Gridley T
    Genetics; 2005 Jun; 170(2):971-4. PubMed ID: 15802514
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
    Anderson PJ; Cox TC; Roscioli T; Elakis G; Smithers L; David DJ; Powell B
    J Craniofac Surg; 2007 Mar; 18(2):312-4. PubMed ID: 17414280
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.