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 *

134 related articles for article (PubMed ID: 30439533)

  • 1. A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.
    Song C; Li N; Hu X; Shi Y; Chen L; Zhou T; Xu X; Shen J; Zhu M
    Eur J Med Genet; 2019 Nov; 62(11):103575. PubMed ID: 30439533
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.
    Li D; Weber DR; Deardorff MA; Hakonarson H; Levine MA
    Eur J Hum Genet; 2015 Feb; 23(2):264-6. PubMed ID: 24781753
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.
    Diaz Escagedo P; Fiscaletti M; Olivier P; Hudon C; Miranda V; Miron MC; Campeau PM; Alos N
    BMC Pediatr; 2021 May; 21(1):248. PubMed ID: 34022834
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.
    Bonilla-Fornés S; Galán-Ledesma L; Pérez PM; Modamio-Høybjør S; Carbonell-Pérez JM; Parrón-Pajares M; Heath KE; Galán-Gómez E
    Eur J Med Genet; 2021 Oct; 64(10):104307. PubMed ID: 34407464
    [TBL] [Abstract][Full Text] [Related]  

  • 5. MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
    Bonafé L; Liang J; Gorna MW; Zhang Q; Ha-Vinh R; Campos-Xavier AB; Unger S; Beckmann JS; Le Béchec A; Stevenson B; Giedion A; Liu X; Superti-Furga G; Wang W; Spahr A; Superti-Furga A
    Am J Med Genet A; 2014 May; 164A(5):1175-9. PubMed ID: 24648384
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.
    Sharony R; Borochowitz Z; Cohen L; Shtorch-Asor A; Rosenfeld R; Modai S; Reinstein E
    Clin Genet; 2017 Dec; 92(6):645-648. PubMed ID: 28342220
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
    Lausch E; Keppler R; Hilbert K; Cormier-Daire V; Nikkel S; Nishimura G; Unger S; Spranger J; Superti-Furga A; Zabel B
    Am J Hum Genet; 2009 Aug; 85(2):168-78. PubMed ID: 19615667
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia.
    Le Merrer M; Maroteaux P
    Pediatr Radiol; 1998 Oct; 28(10):771-5. PubMed ID: 9799299
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Metaphyseal anadysplasia in two sisters.
    Slama M; Mathieu M; Dehouck I; al Hosri J; Vanthournout I; Baratte B; Grumbach Y
    Pediatr Radiol; 1999 May; 29(5):372-5. PubMed ID: 10382218
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Metaphyseal dysplasia, Spahr type: a mimicker of rickets.
    Balasubramaniyan M; Kaur A; Sinha A; Gopinathan NR
    BMJ Case Rep; 2019 Aug; 12(8):. PubMed ID: 31413057
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation.
    Matsumoto H; Hori T; Mori M; Sasai H; Tokuyama T; Yamada T; Ohnishi H
    Pediatr Int; 2024; 66(1):e15766. PubMed ID: 38973228
    [No Abstract]   [Full Text] [Related]  

  • 12. Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.
    Tadros S; Scott RH; Calder AD; Hurst JA
    Clin Dysmorphol; 2017 Jan; 26(1):13-17. PubMed ID: 27576021
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Metaphyseal anadysplasia: evidence of genetic heterogeneity.
    Nishimura G; Ikegawa S; Saga T; Nagai T; Aya M; Kawano T
    Am J Med Genet; 1999 Jan; 82(1):43-8. PubMed ID: 9916842
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.
    Azakli H; Akkaya AD; Aygün MS; Demirkesen C; Eraslan S; Kayserili H
    Am J Med Genet A; 2019 Jan; 179(1):123-129. PubMed ID: 30561107
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
    Kennedy AM; Inada M; Krane SM; Christie PT; Harding B; López-Otín C; Sánchez LM; Pannett AA; Dearlove A; Hartley C; Byrne MH; Reed AA; Nesbit MA; Whyte MP; Thakker RV
    J Clin Invest; 2005 Oct; 115(10):2832-42. PubMed ID: 16167086
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
    Tüysüz B; Kasap B; Sarıtaş M; Alkaya DU; Bozlak S; Kıykım A; Durmaz A; Yıldırım T; Akpınar E; Apak H; Vural M
    Bone; 2023 Feb; 167():116614. PubMed ID: 36400164
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.
    Sobreira N; Modaff P; Steel G; You J; Nanda S; Hoover-Fong J; Valle D; Pauli RM
    Am J Med Genet A; 2015 Jan; 167A(1):159-63. PubMed ID: 25348816
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
    Zhang G; Tang S; Wang H; Pan H; Zhang W; Huang Y; Kong J; Wang Y; Gu J; Wang Y
    Eur J Med Genet; 2020 Nov; 63(11):104021. PubMed ID: 32755715
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of Novel Compound Heterozygous Variants of
    Cheng L; Yang F; Chen X; Kang J; Li J; Zhang Y; Liu J; Li J; Ma J; Duan J
    Front Genet; 2022; 13():938457. PubMed ID: 36035187
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.