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Items: 1 to 20 of 259

1.

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.

2.

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, Annerén G, Bondeson ML.

BMC Med Genet. 2015 Oct 14;16:95. doi: 10.1186/s12881-015-0239-1. Review.

3.

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.

Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y.

J Hum Genet. 2010 Dec;55(12):801-9. doi: 10.1038/jhg.2010.116. Epub 2010 Sep 30.

PMID:
20882035
4.

[Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome].

Seemanová E, Zenker M.

Cas Lek Cesk. 2014;153(5):242-5. Czech.

PMID:
25370770
6.

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML.

Am J Med Genet A. 2014 Mar;164A(3):579-87. doi: 10.1002/ajmg.a.36313. Epub 2013 Dec 19.

PMID:
24357598
7.

[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B.

Med Clin (Barc). 2015 Jan 20;144(2):67-72. doi: 10.1016/j.medcli.2014.06.009. Epub 2014 Sep 4. Spanish.

PMID:
25194980
8.

Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

Croonen EA, Nillesen W, Schrander C, Jongmans M, Scheffer H, Noordam C, Draaisma JM, van der Burgt I, Yntema HG.

Mol Syndromol. 2013 Jun;4(5):227-34. doi: 10.1159/000350686. Epub 2013 May 8.

9.

Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

Lee BH, Kim JM, Jin HY, Kim GH, Choi JH, Yoo HW.

J Pediatr. 2011 Dec;159(6):1029-35. doi: 10.1016/j.jpeds.2011.05.024. Epub 2011 Jul 23.

PMID:
21784453
10.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H.

J Med Genet. 2007 Dec;44(12):763-71. Epub 2007 Aug 17.

11.

New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.

Čizmárová M, Hlinková K, Bertok S, Kotnik P, Duba HC, Bertalan R, Poločková K, Košťálová Ľ, Pribilincová Z, Hlavatá A, Kovács L, Ilenčíková D.

Ann Hum Genet. 2016 Jan;80(1):50-62. doi: 10.1111/ahg.12140. Epub 2015 Nov 26.

PMID:
26607044
12.

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
13.

Acute lymphoblastic leukemia in the context of RASopathies.

Cavé H, Caye A, Strullu M, Aladjidi N, Vignal C, Ferster A, Méchinaud F, Domenech C, Pierri F, Contet A, Cacheux V, Irving J, Kratz C, Clavel J, Verloes A.

Eur J Med Genet. 2016 Mar;59(3):173-8. doi: 10.1016/j.ejmg.2016.01.003. Epub 2016 Feb 5.

PMID:
26855057
14.

Clinical and molecular analysis of RASopathies in a group of Turkish patients.

Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K.

Clin Genet. 2013 Feb;83(2):181-6. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9.

PMID:
22420426
15.

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

Nyström AM, Ekvall S, Thuresson AC, Denayer E, Legius E, Kamali-Moghaddam M, Westermark B, Annerén G, Bondeson ML.

Eur J Med Genet. 2010 May-Jun;53(3):117-21. doi: 10.1016/j.ejmg.2010.03.001. Epub 2010 Mar 17.

PMID:
20302979
16.

Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R.

Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8. doi: 10.1073/pnas.1324128111. Epub 2014 Jul 21.

17.

Noonan syndrome and clinically related disorders.

Tartaglia M, Gelb BD, Zenker M.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Review.

18.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

Narumi Y, Aoki Y, Niihori T, Sakurai M, Cavé H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y.

J Hum Genet. 2008;53(9):834-41. doi: 10.1007/s10038-008-0320-0. Epub 2008 Jul 24.

PMID:
18651097
19.

Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young.

Szopa M, Ludwig-Gałęzowska A, Radkowski P, Skupień J, Zapała B, Płatek T, Klupa T, Kieć-Wilk B, Borowiec M, Młynarski W, Wołkow P, Małecki MT.

Pol Arch Med Wewn. 2015;125(11):845-51. Epub 2015 Nov 9.

20.

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

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

Genet Test Mol Biomarkers. 2010 Jun;14(3):425-32. doi: 10.1089/gtmb.2009.0192.

PMID:
20578946

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