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Items: 1 to 20 of 116

1.

Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome.

Nair S, Fort JA, Yachnis AT, Williams CA.

Pediatr Blood Cancer. 2015 Jun;62(6):1084-6. doi: 10.1002/pbc.25382. Epub 2015 Jan 13.

PMID:
25585602
2.

Pilocytic astrocytoma in a child with Noonan syndrome.

Schuettpelz LG, McDonald S, Whitesell K, Desruisseau DM, Grange DK, Gurnett CA, Wilson DB.

Pediatr Blood Cancer. 2009 Dec;53(6):1147-9. doi: 10.1002/pbc.22193.

PMID:
19621452
3.

Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.

Siegfried A, Cances C, Denuelle M, Loukh N, Tauber M, Cavé H, Delisle MB.

Am J Med Genet A. 2017 Apr;173(4):1061-1065. doi: 10.1002/ajmg.a.38108. Review.

PMID:
28328117
4.

Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.

Mutesa L, Pierquin G, Janin N, Segers K, Thomée C, Provenzi M, Bours V.

Cancer Genet Cytogenet. 2008 Apr 1;182(1):40-2. doi: 10.1016/j.cancergencyto.2007.12.005.

5.

Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

Yoshida R, Ogata T, Masawa N, Nagai T.

Pediatr Blood Cancer. 2008 Jun;50(6):1274-6. doi: 10.1002/pbc.21509.

PMID:
18253957
6.

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Ekvall S, Hagenäs L, Allanson J, Annerén G, Bondeson ML.

Am J Med Genet A. 2011 Jun;155A(6):1217-24. doi: 10.1002/ajmg.a.33987. Epub 2011 May 5.

PMID:
21548061
7.

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

Ferreira LV, Souza SC, Montenegro LR, Malaquias AC, Arnhold IJ, Mendonca BB, Jorge AA.

Clin Endocrinol (Oxf). 2008 Sep;69(3):426-31. doi: 10.1111/j.1365-2265.2008.03234.x. Epub 2008 Mar 10.

PMID:
18331608
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.

[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.

10.

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.

Araki T, Mohi MG, Ismat FA, Bronson RT, Williams IR, Kutok JL, Yang W, Pao LI, Gilliland DG, Epstein JA, Neel BG.

Nat Med. 2004 Aug;10(8):849-57. Epub 2004 Jul 25.

PMID:
15273746
11.

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.

12.

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).

Piard J, Verloes A, Cavé H, Peuchmaur M, Bennaceur S, Leheup B.

Am J Med Genet A. 2012 Jun;158A(6):1406-10. doi: 10.1002/ajmg.a.35329. Epub 2012 Apr 23.

PMID:
22528600
13.

Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation.

Sakamoto K, Imamura T, Asai D, Goto-Kawashima S, Yoshida H, Fujiki A, Furutani A, Ishida H, Aoki Y, Hosoi H.

J Pediatr Hematol Oncol. 2014 Mar;36(2):e136-9. doi: 10.1097/MPH.0000000000000002.

PMID:
24072241
14.

Noonan syndrome, the Ras-MAPK signalling pathway and short stature.

Binder G.

Horm Res. 2009 Apr;71 Suppl 2:64-70. doi: 10.1159/000192439. Epub 2009 Apr 29. Review.

PMID:
19407499
15.

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E.

Eur J Hum Genet. 2003 Jan;11(1):85-8.

17.

Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.

Croonen EA, van der Burgt I, Kapusta L, Draaisma JM.

Am J Med Genet A. 2008 Feb 1;146A(3):350-3. doi: 10.1002/ajmg.a.32140.

PMID:
18203203
18.

[A patient with Noonan syndrome].

Bins A, Gortzak RA.

Ned Tijdschr Tandheelkd. 2013 Dec;120(12):671-5. Dutch.

PMID:
24555250
19.

PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T.

J Clin Endocrinol Metab. 2002 Aug;87(8):3529-33.

PMID:
12161469
20.

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, Rossi C, Silengo MC.

Eur J Med Genet. 2008 Nov-Dec;51(6):566-72. doi: 10.1016/j.ejmg.2008.06.011. Epub 2008 Jul 17.

PMID:
18678287

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