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Items: 1 to 20 of 115

1.

Analysis of giant cell tumour of bone cells for Noonan syndrome/cherubism-related mutations.

Moskovszky L, Idowu B, Taylor R, Mertens F, Athanasou N, Flanagan A.

J Oral Pathol Med. 2013 Jan;42(1):95-8. doi: 10.1111/j.1600-0714.2012.01194.x. Epub 2012 Jun 22.

PMID:
22725657
2.

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

Beneteau C, Cavé H, Moncla A, Dorison N, Munnich A, Verloes A, Leheup B.

Eur J Hum Genet. 2009 Oct;17(10):1216-21. doi: 10.1038/ejhg.2009.44. Epub 2009 Apr 8.

3.

SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.

Hanna N, Parfait B, Talaat IM, Vidaud M, Elsedfy HH.

Clin Genet. 2009 Jun;75(6):568-71. doi: 10.1111/j.1399-0004.2009.01149.x. Epub 2009 May 5.

PMID:
19438935
4.

Telomeric associations correlate with telomere length reduction and clonal chromosome aberrations in giant cell tumor of bone.

Gebre-Medhin S, Broberg K, Jonson T, Gorunova L, von Steyern FV, Brosjö O, Jin Y, Gisselsson D, Panagopoulos I, Mandahl N, Mertens F.

Cytogenet Genome Res. 2009;124(2):121-7. doi: 10.1159/000207516. Epub 2009 May 5.

PMID:
19420923
5.

Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.

Jafarov T, Ferimazova N, Reichenberger E.

Clin Genet. 2005 Aug;68(2):190-1. No abstract available.

PMID:
15996221
6.

Phenotypic and molecular studies of giant-cell tumors of bone and soft tissue.

Lau YS, Sabokbar A, Gibbons CL, Giele H, Athanasou N.

Hum Pathol. 2005 Sep;36(9):945-54.

PMID:
16153456
7.

Noonan syndrome with giant cell lesions.

de Lange J, van der Akker HP.

Int J Paediatr Dent. 2006 Jan;16(1):69. No abstract available.

PMID:
16364097
8.

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.

Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, Eng C, Kukolich MK, Sutton VR.

Am J Med Genet A. 2008 Apr 15;146A(8):1042-8. doi: 10.1002/ajmg.a.32215.

PMID:
18348260
9.

Epidermal growth factor receptor signalling contributes to osteoblastic stromal cell proliferation, osteoclastogenesis and disease progression in giant cell tumour of bone.

Balla P, Moskovszky L, Sapi Z, Forsyth R, Knowles H, Athanasou NA, Szendroi M, Kopper L, Rajnai H, Pinter F, Petak I, Benassi MS, Picci P, Conti A, Krenacs T.

Histopathology. 2011 Sep;59(3):376-89. doi: 10.1111/j.1365-2559.2011.03948.x.

PMID:
22034878
10.

SH3BP2 is rarely mutated in exon 9 in giant cell lesions outside cherubism.

Lietman SA, Prescott NL, Hicks DG, Westra WH, Levine MA.

Clin Orthop Relat Res. 2007 Jun;459:22-7.

PMID:
17545756
11.

IL-17A stimulates the progression of giant cell tumors of bone.

Xu M, Song ZG, Xu CX, Rong GH, Fan KX, Chen JY, Zhang W, Jia JP, Han G, Wang W, Chai W, Liang WT, Bi WZ, Wang Y.

Clin Cancer Res. 2013 Sep 1;19(17):4697-705. doi: 10.1158/1078-0432.CCR-13-0251. Epub 2013 Jul 15.

12.

Prognostic impact of reduced connexin43 expression and gap junction coupling of neoplastic stromal cells in giant cell tumor of bone.

Balla P, Maros ME, Barna G, Antal I, Papp G, Sapi Z, Athanasou NA, Benassi MS, Picci P, Krenacs T.

PLoS One. 2015 May 1;10(5):e0125316. doi: 10.1371/journal.pone.0125316. eCollection 2015.

13.

Cytogenetic analysis of 101 giant cell tumors of bone: nonrandom patterns of telomeric associations and other structural aberrations.

Gorunova L, Vult von Steyern F, Storlazzi CT, Bjerkehagen B, Follerås G, Heim S, Mandahl N, Mertens F.

Genes Chromosomes Cancer. 2009 Jul;48(7):583-602. doi: 10.1002/gcc.20667.

PMID:
19396867
14.

Noonan-like/multiple giant cell lesion syndrome: report of a case and review of the literature.

Wolvius EB, de Lange J, Smeets EE, van der Wal KG, van den Akker HP.

J Oral Maxillofac Surg. 2006 Aug;64(8):1289-92. Review. No abstract available.

PMID:
16860226
15.

Giant cell lesions in noonan syndrome: case report and review of the literature.

Bufalino A, Carrera M, Carlos R, Coletta RD.

Head Neck Pathol. 2010 Jun;4(2):174-7. doi: 10.1007/s12105-010-0178-2. Epub 2010 Apr 11. Review.

16.

High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.

Lo FS, Luo JD, Lee YJ, Shu SG, Kuo MT, Chiou CC.

Clin Chim Acta. 2009 Nov;409(1-2):75-7. doi: 10.1016/j.cca.2009.08.021. Epub 2009 Sep 6. Erratum in: Clin Chim Acta. 2010 Feb;411(3-4):297.

PMID:
19737548
17.

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.

Carapito R, Paul N, Untrau M, Ott L, Corradini N, Poignant S, Geffroy L, Caldagues E, Heymann MF, Cassagnau E, Isidor B, Bahram S.

J Hum Genet. 2014 Jan;59(1):57-9. doi: 10.1038/jhg.2013.118. Epub 2013 Nov 14.

PMID:
24225993
18.

[SOS1 mutation: a new cause of Noonan syndrome].

Serrano-Martín MM, Martínez-Aedo MJ, Tartaglia M, López-Siguero JP.

An Pediatr (Barc). 2008 Apr;68(4):365-8. Spanish.

19.

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

Brasil AS, Malaquias AC, Wanderley LT, Kim CA, Krieger JE, Jorge AA, Pereira AC, Bertola DR.

Arq Bras Endocrinol Metabol. 2010 Nov;54(8):717-22.

20.

Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L.

Rev Esp Cardiol (Engl Ed). 2012 May;65(5):447-55. doi: 10.1016/j.recesp.2011.12.016. Epub 2012 Mar 31. English, Spanish.

PMID:
22465605

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