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Items: 20

1.

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.

PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14.

2.

EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.

Vining NC, Done S, Glass IA, Parnell SE, Sternen DL, Leppig KA, Mosca VS, Goldberg MJ.

Skeletal Radiol. 2012 May;41(5):607-10. doi: 10.1007/s00256-011-1261-9. Epub 2011 Sep 4.

PMID:
21892728
3.

Avascular necrosis of the capital femoral epiphysis in metachondromatosis.

Keret D, Bassett GS.

J Pediatr Orthop. 1990 Sep-Oct;10(5):658-61.

PMID:
2394820
5.

Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis.

Kikuchi N, Ogino T, Kashiwa H, Muragaki Y.

Congenit Anom (Kyoto). 2007 Sep;47(3):105-7.

PMID:
17688470
6.

Metachondromatosis.

Hunter AG, Kozlowski K, Hochberger O.

Can Assoc Radiol J. 1995 Jun;46(3):202-8.

PMID:
7538882
7.

Metachondromatosis. Report of four cases.

Bassett GS, Cowell HR.

J Bone Joint Surg Am. 1985 Jun;67(5):811-4. No abstract available.

PMID:
3873457
8.

EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis.

Bovée JV, Hameetman L, Kroon HM, Aigner T, Hogendoorn PC.

J Pathol. 2006 Jul;209(3):411-9.

PMID:
16622899
9.

Chondrosarcoma in metachondromatosis: a case report.

Mavrogenis AF, Skarpidi E, Papakonstantinou O, Papagelopoulos PJ.

J Bone Joint Surg Am. 2010 Jun;92(6):1507-13. doi: 10.2106/JBJS.I.00693. No abstract available.

PMID:
20516327
10.

Metachondromatosis.

Wittram C, Carty H.

Pediatr Radiol. 1995 Nov;25 Suppl 1:S138-9.

PMID:
8577506
11.

Metachondromatosis and avascular necrosis of the femoral head: a radiographic and histologic correlation.

Wenger DR, Birch J, Rathjen K, Tobin R, Billman G.

J Pediatr Orthop. 1991 May-Jun;11(3):294-300.

PMID:
2056076
12.

Metachondromatosis: a report of two cases in a family.

Ikegawa S, Nagano A, Matsushita T, Nakamura K.

Nihon Seikeigeka Gakkai Zasshi. 1992 May;66(5):460-6.

PMID:
1506743
13.

Metachondromatosis.

Kennedy LA.

Radiology. 1983 Jul;148(1):117-8. No abstract available.

PMID:
6602353
14.

[Metachondromatosis].

Maroteaux P.

Z Kinderheilkd. 1971;109(3):246-61. French. No abstract available.

PMID:
5313319
15.

Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864.

Herman TE, Chines A, McAlister WH, Gottesman GS, Eddy MC, Whyte MP.

Pediatr Radiol. 1997 May;27(5):436-41.

PMID:
9133359
16.

[Metachondromatosis. Report of a family with 4 cases].

Hinkel GK, Rupprecht E, Harzer W.

Helv Paediatr Acta. 1984 Dec;39(5-6):481-9. German.

PMID:
6336171
17.

Erratum: metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr radiol (1997) 27: 436-441)

Herman TE, Chines A, McAlister WH, Gottesman GS, Eddy MC, Whyte MP.

Pediatr Radiol. 1997 Nov;27(11):864.

PMID:
9361046
18.

Metachondromatosis.

Lachman RS, Cohen A, Hollister D, Rimoin DL.

Birth Defects Orig Artic Ser. 1974;10(9):171-8. No abstract available.

PMID:
4547387
19.

Roentgen rounds #89. Metachondromatosis.

McAlister WH, Cacciarelli AA, Gilula LA.

Orthop Rev. 1987 Jul;16(7):498-500. No abstract available.

PMID:
3502612
20.

Metachondromatosis.

Beals RK.

Clin Orthop Relat Res. 1982 Sep;(169):167-70. No abstract available.

PMID:
6980764

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