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Journal Abstract Search

238 related items for PubMed ID: 25241110

  • 1. Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.
    Linhares ND, Freire MC, Cardenas RG, Pena HB, Bahia M, Pena SD.
    Eur J Med Genet; 2014; 57(11-12):643-8. PubMed ID: 25241110
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  • 2. "Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.
    Linhares ND, Freire MCM, Cardenas RGCCL, Pena HB, Bahia M, Pena SDJ.
    Eur J Med Genet; 2018 Feb; 61(2):106. PubMed ID: 28223207
    [No Abstract] [Full Text] [Related]

  • 3. Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?
    Linhares ND, Freire MC, Cardenas RG, Bahia M, Puzenat E, Aubin F, Pena SD.
    Genet Mol Res; 2014 Aug 15; 13(3):6287-92. PubMed ID: 25158255
    [Abstract] [Full Text] [Related]

  • 4. Congenital myofibromatosis in two siblings.
    Arcangeli F, Calista D.
    Eur J Dermatol; 2006 Aug 15; 16(2):181-3. PubMed ID: 16581573
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  • 5. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
    Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H.
    Am J Hum Genet; 2013 Jun 06; 92(6):1001-7. PubMed ID: 23731542
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  • 6. A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
    Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N.
    Am J Hum Genet; 2013 Jun 06; 92(6):996-1000. PubMed ID: 23731537
    [Abstract] [Full Text] [Related]

  • 7. Multicentric infantile myofibromatosis: two perinatal cases.
    Pelluard-Nehmé F, Coatleven F, Carles D, Alberti EM, Briex M, Dallay D.
    Eur J Pediatr; 2007 Oct 06; 166(10):997-1001. PubMed ID: 17186271
    [Abstract] [Full Text] [Related]

  • 8. Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.
    Mudry P, Slaby O, Neradil J, Soukalova J, Melicharkova K, Rohleder O, Jezova M, Seehofnerova A, Michu E, Veselska R, Sterba J.
    BMC Cancer; 2017 Feb 10; 17(1):119. PubMed ID: 28183292
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  • 10. Multicentric infantile myofibromatosis with extensive involvement limited to bone.
    Luque-Cabal M, Obregón-Martínez E, Díez-Blanco M, Álvarez-García M, Fernández-Pérez G.
    Skeletal Radiol; 2022 Jul 10; 51(7):1503-1510. PubMed ID: 34865192
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  • 11. [Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI].
    Machan K, Bravo Bravo C, Martínez-León MI, Affumicato L.
    Radiologia; 2014 Jul 10; 56(1):80-3. PubMed ID: 22118778
    [Abstract] [Full Text] [Related]

  • 12. Morphologic Overlap between Infantile Myofibromatosis and Infantile Fibrosarcoma: A Pitfall in Diagnosis.
    Alaggio R, Barisani D, Ninfo V, Rosolen A, Coffin CM.
    Pediatr Dev Pathol; 2008 Jul 10; 11(5):355-62. PubMed ID: 19006426
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  • 13. Infantile myofibromatosis with visceral involvement and complete spontaneous regression.
    Hatzidaki E, Korakaki E, Voloudaki A, Daskaloyannaki M, Manoura A, Giannakopoulou C.
    J Dermatol; 2001 Jul 10; 28(7):379-82. PubMed ID: 11510506
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  • 15. Treatment of generalized infantile myofibromatosis with sorafenib and imatinib: A case report.
    Bidadi B, Watson A, Weigel B, Oliveira A, Kirkham J, Arndt C.
    Pediatr Blood Cancer; 2020 Jun 10; 67(6):e28288. PubMed ID: 32307894
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  • 17. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
    Jelani M, Kang C, Mohamoud HS, Al-Rehaili R, Almramhi MM, Serafi R, Yang H, Al-Aama JY, Naeem M, Alkhiary YM.
    Arch Oral Biol; 2016 Jul 10; 67():28-33. PubMed ID: 27019138
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