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 *

178 related articles for article (PubMed ID: 24624349)

  • 1. Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.
    Jeon GW; Lee MN; Jung JM; Hong SY; Kim YN; Sin JB; Ki CS
    Ann Lab Med; 2014 Mar; 34(2):134-8. PubMed ID: 24624349
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in two regions of FLNB result in atelosteogenesis I and III.
    Farrington-Rock C; Firestein MH; Bicknell LS; Superti-Furga A; Bacino CA; Cormier-Daire V; Le Merrer M; Baumann C; Roume J; Rump P; Verheij JB; Sweeney E; Rimoin DL; Lachman RS; Robertson SP; Cohn DH; Krakow D
    Hum Mutat; 2006 Jul; 27(7):705-10. PubMed ID: 16752402
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
    S UK; Sankar S; Younes S; D TK; Ahmad MN; Okashah SS; Kamaraj B; Al-Subaie AM; C GPD; Zayed H
    Molecules; 2020 Nov; 25(23):. PubMed ID: 33255942
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.
    Rehder H; Laccone F; Kircher SG; Schild RL; Rapp C; Bald R; Schulze B; Behunova J; Neesen J; Schoner K
    Am J Med Genet A; 2018 Jul; 176(7):1559-1568. PubMed ID: 29797497
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.
    Li BC; Hogue J; Eilers M; Mehrotra P; Hyland J; Holm T; Prosen T; Slavotinek AM
    Am J Med Genet A; 2013 Mar; 161A(3):619-25. PubMed ID: 23401428
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.
    Wu H; Wang Y; Chen X; Yao Y; Zhao W; Fang L; Sun X; Wang N; Jiang J; Gao L; Zhao J; Xu C
    Oxid Med Cell Longev; 2022; 2022():8956636. PubMed ID: 35832491
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.
    Quiggle A; Charng WL; Antunes L; Nikolov M; Bledsoe X; Hecht JT; Dobbs MB; Gurnett CA
    Clin Orthop Relat Res; 2022 Feb; 480(2):421-430. PubMed ID: 34491919
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin.
    Upadhyay K; Loke J; O V; Taragin B; Ostrer H
    Clin Genet; 2018 Feb; 93(2):412-416. PubMed ID: 29095481
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Atelosteogenesis type III: orthopedic management.
    Sarikaya IA; Gorgun B; Erdal OA
    J Pediatr Orthop B; 2017 Nov; 26(6):546-551. PubMed ID: 27258362
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A case study of atypical Larsen syndrome with absent hallmark joint dislocations.
    Kodra N; Diamonstein C; Hauser NS
    Mol Genet Genomic Med; 2019 May; 7(5):e648. PubMed ID: 30916490
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
    Girisha KM; Bidchol AM; Graul-Neumann L; Gupta A; Hehr U; Lessel D; Nader S; Shah H; Wickert J; Kutsche K
    BMC Med Genet; 2016 Apr; 17():27. PubMed ID: 27048506
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in FLNB cause boomerang dysplasia.
    Bicknell LS; Morgan T; Bonafé L; Wessels MW; Bialer MG; Willems PJ; Cohn DH; Krakow D; Robertson SP
    J Med Genet; 2005 Jul; 42(7):e43. PubMed ID: 15994868
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Filamin B: The next hotspot in skeletal research?
    Xu Q; Wu N; Cui L; Wu Z; Qiu G
    J Genet Genomics; 2017 Jul; 44(7):335-342. PubMed ID: 28739045
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.
    Qasim H; Khan H; Zeb H; Ahmad A; Ilyas M; Zahoor M; Umar MN; Ullah R; Ali EA
    J Basic Clin Physiol Pharmacol; 2024 May; 35(3):181-187. PubMed ID: 38743867
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.
    Tsutsumi S; Maekawa A; Obata M; Morgan T; Robertson SP; Kurachi H
    Fetal Diagn Ther; 2012; 32(3):216-20. PubMed ID: 22354125
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
    Grosch M; Grüner B; Spranger S; Stütz AM; Rausch T; Korbel JO; Seelow D; Nürnberg P; Sticht H; Lausch E; Zabel B; Winterpacht A; Tagariello A
    Matrix Biol; 2013; 32(7-8):387-92. PubMed ID: 23665482
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
    Parrini E; Mei D; Pisanti MA; Catarzi S; Pucatti D; Bianchini C; Mascalchi M; Bertini E; Morrone A; Cavaliere ML; Guerrini R
    J Med Genet; 2015 Jun; 52(6):405-12. PubMed ID: 25755106
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing identifies PDE4D mutations in acrodysostosis.
    Lee H; Graham JM; Rimoin DL; Lachman RS; Krejci P; Tompson SW; Nelson SF; Krakow D; Cohn DH
    Am J Hum Genet; 2012 Apr; 90(4):746-51. PubMed ID: 22464252
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
    Mansouri M; Kayserili H; Elalaoui SC; Nishimura G; Iida A; Lyahyai J; Miyake N; Matsumoto N; Sefiani A; Ikegawa S
    Am J Med Genet A; 2016 Feb; 170A(2):460-465. PubMed ID: 26463668
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.