BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 30989250)

  • 1. Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
    Wordsworth P; Chan M
    Calcif Tissue Int; 2019 May; 104(5):530-543. PubMed ID: 30989250
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
    Gnoli M; Staals EL; Campanacci L; Bedeschi MF; Faletra F; Gallone S; Gaudio A; Mattina T; Gurrieri F; Percesepe A; Neri I; Virdi A; Tremosini M; Milanesi A; Brizola E; Pedrini E; Sangiorgi L
    Calcif Tissue Int; 2019 Aug; 105(2):215-221. PubMed ID: 31129707
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Melorheostosis: a Rare Sclerosing Bone Dysplasia.
    Kotwal A; Clarke BL
    Curr Osteoporos Rep; 2017 Aug; 15(4):335-342. PubMed ID: 28676968
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.
    Mumm S; Wenkert D; Zhang X; McAlister WH; Mier RJ; Whyte MP
    J Bone Miner Res; 2007 Feb; 22(2):243-50. PubMed ID: 17087626
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.
    Zhang Y; Castori M; Ferranti G; Paradisi M; Wordsworth BP
    Clin Genet; 2009 Jun; 75(6):556-61. PubMed ID: 19438932
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
    Whyte MP; Griffith M; Trani L; Mumm S; Gottesman GS; McAlister WH; Krysiak K; Lesurf R; Skidmore ZL; Campbell KM; Rosman IS; Bayliss S; Bijanki VN; Nenninger A; Van Tine BA; Griffith OL; Mardis ER
    Bone; 2017 Aug; 101():145-155. PubMed ID: 28434888
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.
    Couto AR; Bruges-Armas J; Peach CA; Chapman K; Brown MA; Wordsworth BP; Zhang Y
    Calcif Tissue Int; 2007 Aug; 81(2):81-4. PubMed ID: 17622481
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.
    Gutierrez D; Cooper KD; Mitchell AL; Cohn HI
    Pediatr Dermatol; 2015; 32(5):e219-20. PubMed ID: 26135202
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
    Hellemans J; Debeer P; Wright M; Janecke A; Kjaer KW; Verdonk PC; Savarirayan R; Basel L; Moss C; Roth J; David A; De Paepe A; Coucke P; Mortier GR
    Hum Mutat; 2006 Mar; 27(3):290. PubMed ID: 16470551
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.
    Jha S; Fratzl-Zelman N; Roschger P; Papadakis GZ; Cowen EW; Kang H; Lehky TJ; Alter K; Deng Z; Ivovic A; Flynn L; Reynolds JC; Dasgupta A; Miettinen M; Lange E; Katz J; Klaushofer K; Marini JC; Siegel RM; Bhattacharyya T
    J Bone Miner Res; 2019 Jan; 34(1):145-156. PubMed ID: 30138550
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
    Kang H; Jha S; Ivovic A; Fratzl-Zelman N; Deng Z; Mitra A; Cabral WA; Hanson EP; Lange E; Cowen EW; Katz J; Roschger P; Klaushofer K; Dale RK; Siegel RM; Bhattacharyya T; Marini JC
    J Exp Med; 2020 May; 217(5):. PubMed ID: 32232430
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
    Hellemans J; Preobrazhenska O; Willaert A; Debeer P; Verdonk PC; Costa T; Janssens K; Menten B; Van Roy N; Vermeulen SJ; Savarirayan R; Van Hul W; Vanhoenacker F; Huylebroeck D; De Paepe A; Naeyaert JM; Vandesompele J; Speleman F; Verschueren K; Coucke PJ; Mortier GR
    Nat Genet; 2004 Nov; 36(11):1213-8. PubMed ID: 15489854
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case.
    Han X; Xu Y; Wei Z; Wang C; Yue H; Zhang Z
    Mol Genet Genomic Med; 2022 Oct; 10(10):e2043. PubMed ID: 36004822
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Melorheostosis in a patient with familial osteopoikilosis.
    Butkus CE; Michels VV; Lindor NM; Cooney WP
    Am J Med Genet; 1997 Oct; 72(1):43-6. PubMed ID: 9295073
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Melorheostosis in a family with autosomal dominant osteopoikilosis.
    Nevin NC; Thomas PS; Davis RI; Cowie GH
    Am J Med Genet; 1999 Feb; 82(5):409-14. PubMed ID: 10069713
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Melorheostosis: segmental osteopoikilosis or a separate entity?
    Kadhim M; Deardorff MA; Dubbs H; Zackai EH; Dormans JP
    J Pediatr Orthop; 2015 Mar; 35(2):e13-7. PubMed ID: 25575356
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis.
    De Ridder R; Boudin E; Zillikens MC; Ibrahim J; van der Eerden BCJ; Van Hul W; Mortier G
    Bone; 2020 Aug; 137():115406. PubMed ID: 32387835
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.
    Yadegari M; Whyte MP; Mumm S; Phelps RG; Shanske A; Totty WG; Cohen SR
    Arch Dermatol; 2010 Jan; 146(1):63-8. PubMed ID: 20083694
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis.
    Happle R
    Am J Med Genet A; 2004 Mar; 125A(3):221-3. PubMed ID: 14994228
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Melorheostosis, osteopoikilosis and ostiopathia striata. Their clinical significance and the value of scintigraphy in the differential diagnosis].
    Michiels I; Schaub T; Scheinzabach M
    Beitr Orthop Traumatol; 1990 Jun; 37(6):317-30. PubMed ID: 2386475
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.