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Results: 1 to 20 of 59

1.

Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.

Bonetti M, Paardekooper Overman J, Tessadori F, Noël E, Bakkers J, den Hertog J.

Development. 2014 May;141(9):1961-70. doi: 10.1242/dev.106310. Epub 2014 Apr 9.

PMID:
24718990
[PubMed - indexed for MEDLINE]
Free Article
2.

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B.

BMC Med Genet. 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14.

PMID:
24451042
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Information from your family doctor. Noonan syndrome: what you should know.

[No authors listed]

Am Fam Physician. 2014 Jan 1;89(1):Online. No abstract available.

PMID:
24444511
[PubMed - indexed for MEDLINE]
4.

Noonan syndrome.

Bhambhani V, Muenke M.

Am Fam Physician. 2014 Jan 1;89(1):37-43.

PMID:
24444506
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.

Nosan G, Bertok S, Vesel S, Yntema HG, Paro-Panjan D.

Croat Med J. 2013 Dec;54(6):574-8.

PMID:
24382853
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
7.

Frequency of aortic dilation in Noonan syndrome.

Cornwall JW, Green RS, Nielsen JC, Gelb BD.

Am J Cardiol. 2014 Jan 15;113(2):368-71. doi: 10.1016/j.amjcard.2013.09.034. Epub 2013 Oct 4.

PMID:
24220280
[PubMed - indexed for MEDLINE]
8.

MAPK activation in mature cataract associated with Noonan syndrome.

Hashida N, Ping X, Nishida K.

BMC Ophthalmol. 2013 Nov 12;13:70. doi: 10.1186/1471-2415-13-70.

PMID:
24219368
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.

Essawi ML, Ismail MF, Afifi HH, Kobesiy MM, El Kotoury A, Barakat MM.

J Formos Med Assoc. 2013 Nov;112(11):707-12. doi: 10.1016/j.jfma.2012.06.002. Epub 2012 Aug 1.

PMID:
24183200
[PubMed - indexed for MEDLINE]
10.

Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.

Cizmarova M, Kostalova L, Pribilincova Z, Lasabova Z, Hlavata A, Kovacs L, Ilencikova D.

Endocr Regul. 2013 Oct;47(4):217-22. Review.

PMID:
24156711
[PubMed - indexed for MEDLINE]
11.

Concurrence of anorexia nervosa and Noonan syndrome.

Arvaniti A, Samakouri M, Keskeridou F, Veletza S.

Eur Eat Disord Rev. 2014 Jan;22(1):83-5. doi: 10.1002/erv.2261. Epub 2013 Sep 24.

PMID:
24089313
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Do you know this syndrome? Noonan syndrome.

Kondo RN, Martins LM, Lopes VC, Bittar RA, Araújo FM.

An Bras Dermatol. 2013 Jul-Aug;88(4):664-6. doi: 10.1590/abd1806-4841.20131934.

PMID:
24068150
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Noonan syndrome with complete atrioventricular canal defect with pulmonary stenosis.

Pradhan AK, Pandey S, Usman K, Kumar M, Mishra R.

J Am Coll Cardiol. 2013 Nov 12;62(20):1905. doi: 10.1016/j.jacc.2013.06.062. Epub 2013 Sep 18. No abstract available.

PMID:
24055746
[PubMed - indexed for MEDLINE]
15.

Anesthetic implications of emergent Cesarean section in a parturient with Noonan syndrome and bacterial endocarditis.

Chase CJ, Holak EJ, Pagel PS.

J Clin Anesth. 2013 Aug;25(5):403-6. doi: 10.1016/j.jclinane.2012.11.016. Epub 2013 Aug 17.

PMID:
23965213
[PubMed - indexed for MEDLINE]
16.

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K.

Am J Med Genet A. 2013 Oct;161(10):2420-30. doi: 10.1002/ajmg.a.36098. Epub 2013 Aug 5.

PMID:
23918763
[PubMed - indexed for MEDLINE]
17.

Learning and memory in children with Noonan syndrome.

Pierpont EI, Tworog-Dube E, Roberts AE.

Am J Med Genet A. 2013 Sep;161(9):2250-7. doi: 10.1002/ajmg.a.36075. Epub 2013 Aug 5.

PMID:
23918208
[PubMed - indexed for MEDLINE]
18.

Targeting protein tyrosine phosphatase SHP2 for the treatment of PTPN11-associated malignancies.

Yu B, Liu W, Yu WM, Loh ML, Alter S, Guvench O, Mackerell AD Jr, Tang LD, Qu CK.

Mol Cancer Ther. 2013 Sep;12(9):1738-48. doi: 10.1158/1535-7163.MCT-13-0049-T. Epub 2013 Jul 3.

PMID:
23825065
[PubMed - indexed for MEDLINE]
19.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y.

Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20.

PMID:
23791108
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.

Bader-Meunier B, Cavé H, Jeremiah N, Magerus A, Lanzarotti N, Rieux-Laucat F, Cormier-Daire V.

Semin Arthritis Rheum. 2013 Oct;43(2):217-9. doi: 10.1016/j.semarthrit.2013.04.009. Epub 2013 Jun 17. Review.

PMID:
23786871
[PubMed - indexed for MEDLINE]

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