Associated Papers
Vanishing Bones and Stubborn Joints: Unravelling the Enigma of Multicentric Osteolysis, Nodulosis, and Arthropathy Syndrome.
Sahu RK et al.
Cureus, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
40796658 (PubMed )
Supplement: 41431_2025_1916_MOESM1_ESM.xlsx › S1_SNV_Data
Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.
Ishaq T et al.
Bmc Musculoskeletal Disorders, 2023
Multicentric Osteolysis Nodulosis Arthropathy Syndrome Simulating Juvenile Idiopathic Arthritis in an Adult Female: A Case Report and a Literature Review.
Imam SK et al.
Cureus, 2023
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
Bhavani GS et al.
American Journal of Medical Genetics. Part A, 2016
Matrix metalloproteinase-2 promoter variability in psoriasis.
Vasku V et al.
Archives of Dermatological Research, 2009
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.
Zankl A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007
A novel homozygous MMP2 mutation in a family with Winchester syndrome.
Rouzier C et al.
Clinical Genetics, 2006
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.
Zankl A et al.
Clinical Genetics, 2005
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 Medical Journal, 2005
Linked common polymorphisms in the gelatinase a promoter are associated with diminished transcriptional response to estrogen and genetic fitness.
Harendza S et al.
The Journal of Biological Chemistry, 2003
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.
Martignetti JA et al.
Nature Genetics, 2001
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