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Journal Abstract Search

187 related items for PubMed ID: 25186005

  • 1. Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report.
    Jaouad IC, Guaoua S, Hajjioui A, Sefiani A.
    J Med Case Rep; 2014 Sep 03; 8():291. PubMed ID: 25186005
    [Abstract] [Full Text] [Related]

  • 2. Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
    Härter B, Benedicenti F, Karall D, Lausch E, Schweigmann G, Stanzial F, Superti-Furga A, Scholl-Bürgi S.
    Mol Genet Genomic Med; 2020 Jun 03; 8(6):e1203. PubMed ID: 32196989
    [Abstract] [Full Text] [Related]

  • 3. Systemic Hyalinosis With Heterozygous CMG2 Mutations: A Case Report and Review of Literature.
    Rahvar M, Teng J, Kim J.
    Am J Dermatopathol; 2016 May 03; 38(5):e60-3. PubMed ID: 26885603
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  • 6. A novel splice site mutation in ANTXR2 (CMG2) gene results in systemic hyalinosis.
    Wang YY, Wen CQ, Wei Z, Jin X.
    J Pediatr Hematol Oncol; 2011 Dec 03; 33(8):e355-7. PubMed ID: 22042284
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  • 7. Hypercalcemia as a rare presentation of hyaline fibromatosis syndrome from different Sudanese families: two case reports.
    Ismail MM, Musa SA, Hassan SS, Abdullah MA.
    J Med Case Rep; 2023 Jun 02; 17(1):244. PubMed ID: 37264371
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  • 8. Three years old child with juvenile hyaline fibromatosis presenting with rectal bleeding.
    Raja K, Khan MA, Mubarak M, Abbas Z, Luck NH, Hassan SM.
    J Pak Med Assoc; 2013 Mar 02; 63(3):396-8. PubMed ID: 23914649
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  • 10. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
    Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA.
    Am J Hum Genet; 2003 Oct 02; 73(4):957-66. PubMed ID: 12973667
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  • 11. Overlapping Hyaline Fibromatosis Syndrome: A Rare Case of Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis.
    Oswal RM, Prasad SS, Manohar N, Pise GA, Rao K.
    Cureus; 2022 Aug 02; 14(8):e27947. PubMed ID: 36120216
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  • 12. Hyaline fibromatosis syndrome: A case report.
    Pereira TDSF, Sales JF, Travassos DV, Lanza CR, Castro WH, Gomes CC, Fonseca FP, Silva TA, Gomez RS.
    Oral Surg Oral Med Oral Pathol Oral Radiol; 2020 Dec 02; 130(6):e328-e335. PubMed ID: 32771412
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  • 13. Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
    Haidar Z, Temanni R, Chouery E, Jithesh P, Liu W, Al-Ali R, Wang E, Marincola FM, Jalkh N, Haddad S, Haidar W, Chouchane L, Mégarbané A.
    BMC Genet; 2017 Jan 19; 18(1):3. PubMed ID: 28103792
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  • 14. Hyaline fibromatosis syndrome: a case presenting with gingival enlargement as the only clinical manifestation and a report of two new mutations in the ANTXR2 gene.
    Liu Y, Zeng X, Ding Y, Xu Y, Duan D.
    BMC Oral Health; 2021 Oct 09; 21(1):508. PubMed ID: 34627224
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  • 15. Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.
    Vahidnezhad H, Ziaee V, Youssefian L, Li Q, Sotoudeh S, Uitto J.
    Clin Exp Dermatol; 2015 Aug 09; 40(6):636-9. PubMed ID: 25754064
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  • 16. [Identification of novel compound heterozygous mutations in the ANTXR2 gene in a Chinese patient with juvenile hyaline fibromatosis].
    Zhang Y, Li R, Li Y, Liao C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Dec 10; 34(6):866-869. PubMed ID: 29188618
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  • 18. [Juvenile hyaline fibromatosis and infantile systemic hyalinosis. Case for diagnosis].
    Brandão FV, Silva CM, Gontijo B, Guedes AC.
    An Bras Dermatol; 2009 Dec 10; 84(6):677-9. PubMed ID: 20191183
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  • 19. Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene.
    Youssefian L, Vahidnezhad H, Aghighi Y, Ziaee V, Zeinali S, Abiri M, Uitto J.
    Acta Derm Venereol; 2017 Jan 04; 97(1):108-109. PubMed ID: 27174544
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  • 20. Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.
    Daşar T, Gönen HN, Kösemehmetoğlu K, Tekşam Ö, Boduroğlu K, Utine GE, Şimşek Kiper PÖ.
    Turk J Pediatr; 2024 May 23; 66(2):205-214. PubMed ID: 38814306
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