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122 related items for PubMed ID: 15756348

  • 1. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene.
    Al-Aqeel AI.
    Saudi Med J; 2005 Jan; 26(1):24-30. PubMed ID: 15756348
    [Abstract] [Full Text] [Related]

  • 2. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.
    Martignetti JA, Aqeel AA, Sewairi WA, Boumah CE, Kambouris M, Mayouf SA, Sheth KV, Eid WA, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ.
    Nat Genet; 2001 Jul; 28(3):261-5. PubMed ID: 11431697
    [Abstract] [Full Text] [Related]

  • 3. The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy.
    Al-Sewairi W.
    Saudi Med J; 2005 Jul; 26(7):1161; author reply 1161-2. PubMed ID: 16178093
    [No Abstract] [Full Text] [Related]

  • 4. The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy.
    Al-Mayouf S.
    Saudi Med J; 2005 Jul; 26(7):1161; author reply 1161-2. PubMed ID: 16047082
    [No Abstract] [Full Text] [Related]

  • 5. Familial arthropathy in Saudi Arabian children: demographic, clinical, and biochemical features.
    Al-Mayouf SM.
    Semin Arthritis Rheum; 2007 Feb; 36(4):256-61. PubMed ID: 16996580
    [Abstract] [Full Text] [Related]

  • 6. Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy.
    Wenkert D, Mumm S, Wiegand SM, McAlister WH, Whyte MP.
    Clin Orthop Relat Res; 2007 Sep; 462():80-6. PubMed ID: 17563705
    [Abstract] [Full Text] [Related]

  • 7. Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family.
    Al Aqeel A, Al Sewairi W, Edress B, Gorlin RJ, Desnick RJ, Martignetti JA.
    Am J Med Genet; 2000 Jul 03; 93(1):11-8. PubMed ID: 10861676
    [Abstract] [Full Text] [Related]

  • 8. A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
    Tuysuz B, Mosig R, Altun G, Sancak S, Glucksman MJ, Martignetti JA.
    Eur J Hum Genet; 2009 May 03; 17(5):565-72. PubMed ID: 18985071
    [Abstract] [Full Text] [Related]

  • 9. Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.
    Zankl A, Bonafé L, Calcaterra V, Di Rocco M, Superti-Furga A.
    Clin Genet; 2005 Mar 03; 67(3):261-6. PubMed ID: 15691365
    [Abstract] [Full Text] [Related]

  • 10. Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.
    Ishaq T, Loid P, Ishaq HA, Seo GH, Mäkitie O, Naz S.
    BMC Musculoskelet Disord; 2023 Sep 14; 24(1):735. PubMed ID: 37710205
    [Abstract] [Full Text] [Related]

  • 11. A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy.
    Kröger L, Löppönen T, Ala-Kokko L, Kröger H, Jauhonen HM, Lehti K, Jääskeläinen J.
    Mol Genet Genomic Med; 2019 Aug 14; 7(8):e802. PubMed ID: 31268248
    [Abstract] [Full Text] [Related]

  • 12. Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.
    Mosig RA, Dowling O, DiFeo A, Ramirez MC, Parker IC, Abe E, Diouri J, Aqeel AA, Wylie JD, Oblander SA, Madri J, Bianco P, Apte SS, Zaidi M, Doty SB, Majeska RJ, Schaffler MB, Martignetti JA.
    Hum Mol Genet; 2007 May 01; 16(9):1113-23. PubMed ID: 17400654
    [Abstract] [Full Text] [Related]

  • 13. A novel homozygous MMP2 mutation in a family with Winchester syndrome.
    Rouzier C, Vanatka R, Bannwarth S, Philip N, Coussement A, Paquis-Flucklinger V, Lambert JC.
    Clin Genet; 2006 Mar 01; 69(3):271-6. PubMed ID: 16542393
    [Abstract] [Full Text] [Related]

  • 14. Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: clinical and molecular genetic findings in 22 patients.
    Albuhairan I, Al-Mayouf SM.
    Semin Arthritis Rheum; 2013 Oct 01; 43(2):292-6. PubMed ID: 23290693
    [Abstract] [Full Text] [Related]

  • 15. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 01; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 16. Recessive cornea plana in the Kingdom of Saudi Arabia.
    Khan AO, Aldahmesh M, Meyer B.
    Ophthalmology; 2006 Oct 01; 113(10):1773-8. PubMed ID: 17011957
    [Abstract] [Full Text] [Related]

  • 17. Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.
    Azzollini J, Rovina D, Gervasini C, Parenti I, Fratoni A, Cubellis MV, Cerri A, Pietrogrande L, Larizza L.
    J Hum Genet; 2014 Nov 01; 59(11):631-7. PubMed ID: 25273674
    [Abstract] [Full Text] [Related]

  • 18. Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review.
    Castberg FC, Kjaergaard S, Mosig RA, Lobl M, Martignetti C, Martignetti JA, Myrup C, Zak M.
    Eur J Pediatr; 2013 Dec 01; 172(12):1657-63. PubMed ID: 23900523
    [Abstract] [Full Text] [Related]

  • 19. Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
    Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, Kabra M, Agarwal M, Ranganath P, Ekbote AV, Phadke SR, Kamath A, Dalal A, Girisha KM.
    Am J Med Genet A; 2016 Feb 01; 170A(2):410-417. PubMed ID: 26601801
    [Abstract] [Full Text] [Related]

  • 20. New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome.
    Al-Mayouf SM, Majeed M, Hugosson C, Bahabri S.
    Am J Med Genet; 2000 Jul 03; 93(1):5-10. PubMed ID: 10861675
    [Abstract] [Full Text] [Related]

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