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138 related items for PubMed ID: 16178093

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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]

  • 6. 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]

  • 7. 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 14; 67(3):261-6. PubMed ID: 15691365
    [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 14; 17(5):565-72. PubMed ID: 18985071
    [Abstract] [Full Text] [Related]

  • 9. Japanese siblings with multicentric osteolysis nodulosis and arthropathy.
    Okada S, Suzuki E, Suzuki Y, Moriwake T, Hasegawa K, Omuro A, Hasegawa S.
    Pediatr Int; 2024 May 14; 66(1):e15743. PubMed ID: 38409917
    [No Abstract] [Full Text] [Related]

  • 10. [Hajdu-Cheney Syndrome: a case of acroosteolysis].
    Cunha I, Saavedra MJ, Oliveira MA, Salvador MJ, Malcata A.
    Acta Reumatol Port; 2007 May 14; 32(2):169-74. PubMed ID: 17576397
    [Abstract] [Full Text] [Related]

  • 11. 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 14; 28(3):261-5. PubMed ID: 11431697
    [Abstract] [Full Text] [Related]

  • 12. Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.
    Gok F, Crettol LM, Alanay Y, Hacihamdioglu B, Kocaoglu M, Bonafe L, Ozen S.
    Eur J Pediatr; 2010 Mar 14; 169(3):363-7. PubMed ID: 19653001
    [Abstract] [Full Text] [Related]

  • 13. Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling.
    de Vos IJHM, Wong ASW, Welting TJM, Coull BJ, van Steensel MAM.
    Am J Med Genet A; 2019 Aug 14; 179(8):1652-1664. PubMed ID: 31218820
    [Abstract] [Full Text] [Related]

  • 14. 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 14; 69(3):271-6. PubMed ID: 16542393
    [Abstract] [Full Text] [Related]

  • 15. 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 14; 170A(2):410-417. PubMed ID: 26601801
    [Abstract] [Full Text] [Related]

  • 16. Cyclic intravenous pamidronate treatment in children with nodulosis, arthropathy and osteolysis syndrome.
    Al-Mayouf SM, Madi SM, Bin-Abbas BS.
    Ann Rheum Dis; 2006 Dec 14; 65(12):1672-3. PubMed ID: 17105860
    [No Abstract] [Full Text] [Related]

  • 17. Familial arthropathy in Saudi Arabian children: demographic, clinical, and biochemical features.
    Al-Mayouf SM.
    Semin Arthritis Rheum; 2007 Feb 14; 36(4):256-61. PubMed ID: 16996580
    [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 14; 172(12):1657-63. PubMed ID: 23900523
    [Abstract] [Full Text] [Related]

  • 19. A genetic acro-osteolysis syndrome. A Hajdu-Cheney syndrome.
    Coigne E, Veys E, Raeman F, Mielants H.
    Acta Rhumatol Belg; 1978 Dec 14; 2(1-2):45-51. PubMed ID: 751470
    [No Abstract] [Full Text] [Related]

  • 20. Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.
    Stathopoulos IP, Trovas G, Lampropoulou-Adamidou K, Koromila T, Kollia P, Papaioannou NA, Lyritis G.
    Bone; 2013 Jan 14; 52(1):366-71. PubMed ID: 23117206
    [Abstract] [Full Text] [Related]

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