These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. 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; 67(3):261-6. PubMed ID: 15691365 [TBL] [Abstract][Full Text] [Related]
5. 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 [TBL] [Abstract][Full Text] [Related]
6. Idiopathic multicentric osteolysis: family report and review of the literature. Rizzo R; Sorge G; Denaro V; Carpinato C; Tiné A Clin Dysmorphol; 1993 Jul; 2(3):251-6. PubMed ID: 8287188 [TBL] [Abstract][Full Text] [Related]
8. 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; 170A(2):410-417. PubMed ID: 26601801 [TBL] [Abstract][Full Text] [Related]
9. 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; 17(5):565-72. PubMed ID: 18985071 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
13. 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; 59(11):631-7. PubMed ID: 25273674 [TBL] [Abstract][Full Text] [Related]
14. 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; 7(8):e802. PubMed ID: 31268248 [TBL] [Abstract][Full Text] [Related]
15. Three cases of multicentric carpotarsal osteolysis syndrome: a case series. Park PG; Kim KH; Hyun HS; Lee CH; Park JS; Kie JH; Choi YH; Moon KC; Cheong HI BMC Med Genet; 2018 Sep; 19(1):164. PubMed ID: 30208859 [TBL] [Abstract][Full Text] [Related]
16. Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. Zankl A; Pachman L; Poznanski A; Bonafé L; Wang F; Shusterman Y; Fishman DA; Superti-Furga A J Bone Miner Res; 2007 Feb; 22(2):329-33. PubMed ID: 17059372 [TBL] [Abstract][Full Text] [Related]
17. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
18. 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; 169(3):363-7. PubMed ID: 19653001 [TBL] [Abstract][Full Text] [Related]
19. Idiopathic multicentric osteolysis with nephropathy. Chiang HW; Chu TS; Tsai CC; Hsieh BS J Formos Med Assoc; 2000 Mar; 99(3):243-7. PubMed ID: 10820958 [TBL] [Abstract][Full Text] [Related]
20. 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; 24(1):735. PubMed ID: 37710205 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]