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 *

226 related articles for article (PubMed ID: 9585583)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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; 7(1):27-33. PubMed ID: 10094188
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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(1):36-41. PubMed ID: 8988166
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 115(7):1894-902; discussion 1903-5. PubMed ID: 15923834
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 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. 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]  

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

  • 12. Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
    Kress W; Collmann H; Büsse M; Halliger-Keller B; Mueller CR
    Cytogenet Cell Genet; 2000; 91(1-4):134-7. PubMed ID: 11173845
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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; 6(8):1369-73. PubMed ID: 9259286
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.
    Krebs I; Weis I; Hudler M; Rommens JM; Roth H; Scherer SW; Tsui LC; Füchtbauer EM; Grzeschik KH; Tsuji K; Kunz J
    Hum Mol Genet; 1997 Jul; 6(7):1079-86. PubMed ID: 9215678
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome.
    de Heer IM; Hoogeboom J; Vermeij-Keers C; de Klein A; Vaandrager JM
    J Craniofac Surg; 2004 Nov; 15(6):1048-52. PubMed ID: 15547403
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.
    Dollfus H; Biswas P; Kumaramanickavel G; Stoetzel C; Quillet R; Biswas J; Lajeunie E; Renier D; Perrin-Schmitt F
    Am J Med Genet; 2002 May; 109(3):218-25. PubMed ID: 11977182
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
    Nur BG; Pehlivanoğlu S; Mıhçı E; Calışkan M; Demir D; Alper OM; Kayserili H; Lüleci G
    Pediatr Neurol; 2014 May; 50(5):482-90. PubMed ID: 24656465
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.