BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 20683987)

  • 1. Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.
    Mefford HC; Shafer N; Antonacci F; Tsai JM; Park SS; Hing AV; Rieder MJ; Smyth MD; Speltz ML; Eichler EE; Cunningham ML
    Am J Med Genet A; 2010 Sep; 152A(9):2203-10. PubMed ID: 20683987
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Patients with isolated oligo/hypodontia caused by RUNX2 duplication.
    Molin A; Lopez-Cazaux S; Pichon O; Vincent M; Isidor B; Le Caignec C
    Am J Med Genet A; 2015 Jun; 167(6):1386-90. PubMed ID: 25899668
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Calvarial osteoblast gene expression in patients with craniosynostosis leads to novel polygenic mouse model.
    Gustafson JA; Park SS; Cunningham ML
    PLoS One; 2019; 14(8):e0221402. PubMed ID: 31442251
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
    Seto ML; Hing AV; Chang J; Hu M; Kapp-Simon KA; Patel PK; Burton BK; Kane AA; Smyth MD; Hopper R; Ellenbogen RG; Stevenson K; Speltz ML; Cunningham ML
    Am J Med Genet A; 2007 Apr; 143A(7):678-86. PubMed ID: 17343269
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.
    Sowińska-Seidler A; Olech EM; Socha M; Larysz D; Jamsheer A
    J Appl Genet; 2018 Aug; 59(3):281-289. PubMed ID: 29845577
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis.
    Cuellar A; Bala K; Di Pietro L; Barba M; Yagnik G; Liu JL; Stevens C; Hur DJ; Ingersoll RG; Justice CM; Drissi H; Kim J; Lattanzi W; Boyadjiev SA
    Bone; 2020 Aug; 137():115395. PubMed ID: 32360898
    [TBL] [Abstract][Full Text] [Related]  

  • 7. RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.
    Greives MR; Odessey EA; Waggoner DJ; Shenaq DS; Aradhya S; Mitchell A; Whitcomb E; Warshawsky N; He TC; Reid RR
    J Craniofac Surg; 2013 Jan; 24(1):126-9. PubMed ID: 23348268
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.
    Chaudhry A; Sabatini P; Han L; Ray PN; Forrest C; Bowdin S
    Am J Med Genet A; 2015 Nov; 167A(11):2544-7. PubMed ID: 26097063
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis.
    Coussens AK; Wilkinson CR; Hughes IP; Morris CP; van Daal A; Anderson PJ; Powell BC
    BMC Genomics; 2007 Dec; 8():458. PubMed ID: 18076769
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
    Vissers LE; Cox TC; Maga AM; Short KM; Wiradjaja F; Janssen IM; Jehee F; Bertola D; Liu J; Yagnik G; Sekiguchi K; Kiyozumi D; van Bokhoven H; Marcelis C; Cunningham ML; Anderson PJ; Boyadjiev SA; Passos-Bueno MR; Veltman JA; Smyth I; Buckley MF; Roscioli T
    PLoS Genet; 2011 Sep; 7(9):e1002278. PubMed ID: 21931569
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.
    Wang JC; Steinraths M; Dang L; Lomax B; Eydoux P; Stockley T; Yong SL; Van Allen MI
    Am J Med Genet A; 2007 Dec; 143A(24):2931-6. PubMed ID: 17955513
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
    Kutkowska-Kaźmierczak A; Gos M; Obersztyn E
    J Appl Genet; 2018 May; 59(2):133-147. PubMed ID: 29392564
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical interest of molecular study in cases of isolated midline craniosynostosis.
    Di Rocco F; Rossi M; Verlut I; Szathmari A; Beuriat PA; Chatron N; Chauvel-Picard J; Mottolese C; Monin P; Vinchon M; Guernouche S; Collet C
    Eur J Hum Genet; 2023 Jun; 31(6):621-628. PubMed ID: 36732661
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis.
    Kariminejad A; Kariminejad R; Tzschach A; Ullmann R; Ahmed A; Asghari-Roodsari A; Salehpour S; Afroozan F; Ropers HH; Kariminejad MH
    Am J Med Genet A; 2009 Jul; 149A(7):1544-9. PubMed ID: 19533795
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Osteoblast differentiation profiles define sex specific gene expression patterns in craniosynostosis.
    Park SS; Beyer RP; Smyth MD; Clarke CM; Timms AE; Bammler TK; Stamper BD; Mecham BH; Gustafson JA; Cunningham ML
    Bone; 2015 Jul; 76():169-76. PubMed ID: 25753363
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
    Tooze RS; Miller KA; Swagemakers SMA; Calpena E; McGowan SJ; Boute O; Collet C; Johnson D; Laffargue F; de Leeuw N; Morton JV; Noons P; Ockeloen CW; Phipps JM; Tan TY; Timberlake AT; Vanlerberghe C; Wall SA; Weber A; Wilson LC; Zackai EH; Mathijssen IMJ; Twigg SRF; Wilkie AOM
    Genet Med; 2023 Sep; 25(9):100883. PubMed ID: 37154149
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Structural brain differences in school-age children with and without single-suture craniosynostosis.
    Aldridge K; Collett BR; Wallace ER; Birgfeld C; Austin JR; Yeh R; Feil M; Kapp-Simon KA; Aylward EH; Cunningham ML; Speltz ML
    J Neurosurg Pediatr; 2017 Apr; 19(4):479-489. PubMed ID: 28156213
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Non-syndromic single-suture craniosynostosis in triplets.
    Chesler D; Bram R; Antwi P; Timberlake AT; DiLuna ML; Kahle KT
    Childs Nerv Syst; 2018 Jun; 34(6):1241-1245. PubMed ID: 29460062
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.
    Alesi V; Barrano G; Morara S; Darelli D; Petrilli K; Capalbo A; Pacella M; Haass C; Finocchi M; Novelli A; Bertoli M
    Am J Med Genet A; 2011 Oct; 155A(10):2543-51. PubMed ID: 21910230
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.