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Items: 1 to 20 of 98

1.

Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.

Evans BR, Mosig RA, Lobl M, Martignetti CR, Camacho C, Grum-Tokars V, Glucksman MJ, Martignetti JA.

Am J Hum Genet. 2012 Sep 7;91(3):572-6. doi: 10.1016/j.ajhg.2012.07.022. Epub 2012 Aug 23.

2.

Winchester syndrome: the progression of radiological findings over a 23-year period.

Vanatka R, Rouzier C, Lambert JC, Leroux C, Coussement A.

Skeletal Radiol. 2011 Mar;40(3):347-51. doi: 10.1007/s00256-010-1033-y. Epub 2010 Sep 24.

PMID:
20865259
3.

Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.

Ekbote AV, Danda S, Zankl A, Mandal K, Maguire T, Ungerer K.

J Clin Res Pediatr Endocrinol. 2014;6(1):40-6. doi: 10.4274/Jcrpe.1166. Review.

4.

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.

PMID:
11431697
5.

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. doi: 10.1038/ejhg.2008.204. Epub 2008 Nov 5.

6.

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.

PMID:
15691365
7.

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.

9.

A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.

Jeong SY, Kim BY, Kim HJ, Yang JA, Kim OH.

J Hum Genet. 2010 Nov;55(11):764-6. doi: 10.1038/jhg.2010.102. Epub 2010 Aug 19.

PMID:
20720557
10.

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;69(3):271-6.

PMID:
16542393
11.

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;52(1):366-71. doi: 10.1016/j.bone.2012.10.027. Epub 2012 Oct 29.

PMID:
23117206
12.

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 3;93(1):11-8.

PMID:
10861676
13.

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. doi: 10.1007/s00431-009-1028-7. Epub 2009 Aug 4.

PMID:
19653001
14.

A report of three patients with MMP2 associated hereditary osteolysis.

Temtamy SA, Ismail S, Aglan MS, Ashour AM, Hosny LA, El-Badry TH, Aboul-Ezz EH, Amr K, Fateen E, Maguire T, Ungerer K, Zankl A.

Genet Couns. 2012;23(2):175-84.

PMID:
22876575
15.
16.
17.

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.

PMID:
17563705
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;172(12):1657-63. doi: 10.1007/s00431-013-2102-8. Epub 2013 Jul 31. Review.

PMID:
23900523
19.

The Winchester syndrome: clinical, radiographic and pathologic studies.

Hollister DW, Rimoin DL, Lachman RS, Westin GW, Cohen AH.

Birth Defects Orig Artic Ser. 1974;10(10):89-100. No abstract available.

PMID:
4462644
20.

Don't mess with the matrix.

Vu TH.

Nat Genet. 2001 Jul;28(3):202-3.

PMID:
11431682
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