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Items: 1 to 20 of 29

1.

Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations.

Bauler TJ, Kamiya N, Lapinski PE, Langewisch E, Mishina Y, Wilkinson JE, Feng GS, King PD.

Dis Model Mech. 2011 Mar;4(2):228-39. doi: 10.1242/dmm.006130. Epub 2010 Nov 10.

2.

Enchondromatosis: insights on the different subtypes.

Pansuriya TC, Kroon HM, Bovée JV.

Int J Clin Exp Pathol. 2010 Jun 26;3(6):557-69. Review.

3.

Noonan syndrome: clinical aspects and molecular pathogenesis.

Tartaglia M, Zampino G, Gelb BD.

Mol Syndromol. 2010 Feb;1(1):2-26. doi: 10.1159/000276766. Epub 2010 Jan 15.

4.

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB.

PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991.

5.

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
6.

The tyrosine phosphatase Shp2 in development and cancer.

Grossmann KS, Rosário M, Birchmeier C, Birchmeier W.

Adv Cancer Res. 2010;106:53-89. doi: 10.1016/S0065-230X(10)06002-1. Review.

PMID:
20399956
7.

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA.

N Engl J Med. 2010 Apr 1;362(13):1181-91. doi: 10.1056/NEJMoa0908094. Epub 2010 Mar 10.

8.

Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ.

Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10.

9.

A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.

Jones KB, Piombo V, Searby C, Kurriger G, Yang B, Grabellus F, Roughley PJ, Morcuende JA, Buckwalter JA, Capecchi MR, Vortkamp A, Sheffield VC.

Proc Natl Acad Sci U S A. 2010 Feb 2;107(5):2054-9. doi: 10.1073/pnas.0910875107. Epub 2009 Dec 22.

10.

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, Sznajer Y, Craen M, Leventopoulos G, Mutesa L, Vandecasseye W, Massa G, Kayserili H, Sciot R, Fryns JP, Legius E.

Genes Chromosomes Cancer. 2010 Mar;49(3):242-52. doi: 10.1002/gcc.20735.

PMID:
19953625
11.

The tyrosine phosphatase Shp2 (PTPN11) directs Neuregulin-1/ErbB signaling throughout Schwann cell development.

Grossmann KS, Wende H, Paul FE, Cheret C, Garratt AN, Zurborg S, Feinberg K, Besser D, Schulz H, Peles E, Selbach M, Birchmeier W, Birchmeier C.

Proc Natl Acad Sci U S A. 2009 Sep 29;106(39):16704-9. doi: 10.1073/pnas.0904336106. Epub 2009 Sep 11.

12.

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB.

Horm Res. 2009;71(4):185-93. doi: 10.1159/000201106. Epub 2009 Mar 4. Review.

PMID:
19258709
13.

PTHR1 mutations associated with Ollier disease result in receptor loss of function.

Couvineau A, Wouters V, Bertrand G, Rouyer C, Gérard B, Boon LM, Grandchamp B, Vikkula M, Silve C.

Hum Mol Genet. 2008 Sep 15;17(18):2766-75. doi: 10.1093/hmg/ddn176. Epub 2008 Jun 17.

14.

Multiple osteochondromas.

Bovée JV.

Orphanet J Rare Dis. 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. Review.

15.

Ollier disease.

Silve C, Jüppner H.

Orphanet J Rare Dis. 2006 Sep 22;1:37. Review.

16.

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
17.

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG.

J Biol Chem. 2006 Mar 10;281(10):6785-92. Epub 2005 Dec 23.

18.

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.

Abecasis GR, Cherny SS, Cookson WO, Cardon LR.

Nat Genet. 2002 Jan;30(1):97-101. Epub 2001 Dec 3.

PMID:
11731797
19.

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

Bovée JV, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AH, Bakker E, Van Hul W, Cornelisse CJ, Hogendoorn PC.

Am J Hum Genet. 1999 Sep;65(3):689-98.

20.

Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp-2.

Saxton TM, Henkemeyer M, Gasca S, Shen R, Rossi DJ, Shalaby F, Feng GS, Pawson T.

EMBO J. 1997 May 1;16(9):2352-64.

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