BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 30051459)

  • 1. Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia.
    Cadoff EB; Sheffer R; Wientroub S; Ovadia D; Meiner V; Schwarzbauer JE
    Clin Genet; 2018 Nov; 94(5):429-437. PubMed ID: 30051459
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
    Lee CS; Fu H; Baratang N; Rousseau J; Kumra H; Sutton VR; Niceta M; Ciolfi A; Yamamoto G; Bertola D; Marcelis CL; Lugtenberg D; Bartuli A; Kim C; Hoover-Fong J; Sobreira N; Pauli R; Bacino C; Krakow D; Parboosingh J; Yap P; Kariminejad A; McDonald MT; Aracena MI; Lausch E; Unger S; Superti-Furga A; Lu JT; ; Cohn DH; Tartaglia M; Lee BH; Reinhardt DP; Campeau PM
    Am J Hum Genet; 2017 Nov; 101(5):815-823. PubMed ID: 29100092
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
    Costantini A; Valta H; Baratang NV; Yap P; Bertola DR; Yamamoto GL; Kim CA; Chen J; Wierenga KJ; Fanning EA; Escobar L; McWalter K; McLaughlin H; Willaert R; Begtrup A; Alm JJ; Reinhardt DP; Mäkitie O; Campeau PM
    Bone; 2019 Apr; 121():163-171. PubMed ID: 30599297
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).
    Sabir AH; Singhal J; Man J; Mensah NE; Ahn JW; Cheung MS; Irving M
    Clin Dysmorphol; 2021 Jul; 30(3):154-158. PubMed ID: 33605604
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
    Machol K; Jain M; Almannai M; Orand T; Lu JT; Tran A; Chen Y; Schlesinger A; Gibbs R; Bonafe L; Campos-Xavier AB; Unger S; Superti-Furga A; Lee BH; Campeau PM; Burrage LC
    Am J Med Genet A; 2017 Mar; 173(3):733-739. PubMed ID: 27888646
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.
    Ramos-Mejía R; Heath KE; Modamio-Høybjør S; Huckstadt V; Calcagni J; Remondino R; Fano V
    Am J Med Genet A; 2024 Mar; 194(3):e63469. PubMed ID: 37940834
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
    Burrage LC; Reynolds JJ; Baratang NV; Phillips JB; Wegner J; McFarquhar A; Higgs MR; Christiansen AE; Lanza DG; Seavitt JR; Jain M; Li X; Parry DA; Raman V; Chitayat D; Chinn IK; Bertuch AA; Karaviti L; Schlesinger AE; Earl D; Bamshad M; Savarirayan R; Doddapaneni H; Muzny D; Jhangiani SN; Eng CM; Gibbs RA; Bi W; Emrick L; Rosenfeld JA; Postlethwait J; Westerfield M; Dickinson ME; Beaudet AL; Ranza E; Huber C; Cormier-Daire V; Shen W; Mao R; Heaney JD; Orange JS; ; ; Bertola D; Yamamoto GL; Baratela WAR; Butler MG; Ali A; Adeli M; Cohn DH; Krakow D; Jackson AP; Lees M; Offiah AC; Carlston CM; Carey JC; Stewart GS; Bacino CA; Campeau PM; Lee B
    Am J Hum Genet; 2019 Mar; 104(3):422-438. PubMed ID: 30773277
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases.
    Currarino G; Birch JG; Herring JA
    Pediatr Radiol; 2000 Jan; 30(1):14-24. PubMed ID: 10663502
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts.
    Zoppi N; Ritelli M; Colombi M
    Biochim Biophys Acta; 2012 Oct; 1820(10):1576-87. PubMed ID: 22705941
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Fibronectin isoforms in skeletal development and associated disorders.
    Dinesh NEH; Campeau PM; Reinhardt DP
    Am J Physiol Cell Physiol; 2022 Aug; 323(2):C536-C549. PubMed ID: 35759430
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
    Chen J; Ma X; Zhou Y; Li G; Guo Q
    BMC Pediatr; 2017 Jul; 17(1):175. PubMed ID: 28738883
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
    Simsek-Kiper PO; Taskiran EZ; Kosukcu C; Urel-Demir G; Akgun-Dogan O; Yilmaz G; Utine GE; Nishimura G; Boduroglu K; Alikasifoglu M
    Am J Med Genet A; 2018 Sep; 176(9):2009-2016. PubMed ID: 30063090
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
    Shao J; Zhao S; Yan Z; Wang L; Zhang Y; Lin M; Yu C; Wang S; Niu Y; Li X; Qiu G; Zhang J; ; Wu Z; Wu N
    BMC Med Genet; 2020 May; 21(1):115. PubMed ID: 32460719
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
    Wang Z; Horemuzova E; Iida A; Guo L; Liu Y; Matsumoto N; Nishimura G; Nordgren A; Miyake N; Tham E; Grigelioniene G; Ikegawa S
    J Hum Genet; 2017 Apr; 62(4):503-506. PubMed ID: 28123176
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis.
    Sutton VR; Hyland JC; Phillips WA; Schlesinger AE; Brill PW
    Am J Med Genet A; 2005 Mar; 133A(2):209-12. PubMed ID: 15666313
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
    Wang Z; Iida A; Miyake N; Nishiguchi KM; Fujita K; Nakazawa T; Alswaid A; Albalwi MA; Kim OH; Cho TJ; Lim GY; Isidor B; David A; Rustad CF; Merckoll E; Westvik J; Stattin EL; Grigelioniene G; Kou I; Nakajima M; Ohashi H; Smithson S; Matsumoto N; Nishimura G; Ikegawa S
    PLoS One; 2016; 11(3):e0150555. PubMed ID: 26974433
    [TBL] [Abstract][Full Text] [Related]  

  • 17. AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
    Edgerley K; Barnicoat A; Offiah AC; Calder AD; Mankad K; Thomas NS; Bunyan DJ; Williams M; Buxton C; Majumdar A; Vijayakumar K; Hilliard T; Turner J; Burren CP; Monsell F; Smithson SF
    Am J Med Genet A; 2021 Apr; 185(4):1228-1235. PubMed ID: 33439541
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.
    Smith AC; Mears AJ; Bunker R; Ahmed A; MacKenzie M; Schwartzentruber JA; Beaulieu CL; Ferretti E; ; Majewski J; Bulman DE; Celik FC; Boycott KM; Graham GE
    J Med Genet; 2014 Jul; 51(7):470-4. PubMed ID: 24706940
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Fibronectin binds and enhances the activity of bone morphogenetic protein 1.
    Huang G; Zhang Y; Kim B; Ge G; Annis DS; Mosher DF; Greenspan DS
    J Biol Chem; 2009 Sep; 284(38):25879-88. PubMed ID: 19617627
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in FN1 cause glomerulopathy with fibronectin deposits.
    Castelletti F; Donadelli R; Banterla F; Hildebrandt F; Zipfel PF; Bresin E; Otto E; Skerka C; Renieri A; Todeschini M; Caprioli J; Caruso RM; Artuso R; Remuzzi G; Noris M
    Proc Natl Acad Sci U S A; 2008 Feb; 105(7):2538-43. PubMed ID: 18268355
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.