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Items: 1 to 20 of 166

1.

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.

2.

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
3.

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
4.

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N.

Am J Med Genet A. 2017 Sep;173(9):2346-2352. doi: 10.1002/ajmg.a.38337. Epub 2017 Jun 26.

PMID:
28650561
5.

Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.

Allanson JE.

Am J Med Genet A. 2016 Oct;170(10):2570-7. doi: 10.1002/ajmg.a.37736. Epub 2016 May 7.

PMID:
27155212
6.

Genetic and pathogenetic aspects of Noonan syndrome and related disorders.

Zenker M.

Horm Res. 2009 Dec;72 Suppl 2:57-63. doi: 10.1159/000243782. Epub 2009 Dec 22. Review.

PMID:
20029240
7.

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.

Tidyman WE, Rauen KA.

Expert Rev Mol Med. 2008 Dec 9;10:e37. doi: 10.1017/S1462399408000902. Review.

PMID:
19063751
8.

[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
9.

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

Seemanová E, Zenker M.

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

PMID:
25370770
10.

Autism traits in the RASopathies.

Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA.

J Med Genet. 2014 Jan;51(1):10-20. doi: 10.1136/jmedgenet-2013-101951. Epub 2013 Oct 7.

11.

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

Ko JM, Kim JM, Kim GH, Yoo HW.

J Hum Genet. 2008;53(11-12):999-1006. doi: 10.1007/s10038-008-0343-6. Epub 2008 Nov 20.

PMID:
19020799
12.

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

Xu S, Fan Y, Sun Y, Wang L, Gu X, Yu Y.

BMC Med Genomics. 2017 Oct 30;10(1):62. doi: 10.1186/s12920-017-0298-6.

13.

FOXI2: a possible gene contributing to ectodermal dysplasia.

Kurban M, Zeineddine SB, Hamie L, Safi R, Abbas O, Kibbi AG, Bitar F, Nemer G.

Eur J Dermatol. 2017 Dec 1;27(6):641-645. doi: 10.1684/ejd.2017.3130.

PMID:
29165300
14.

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L.

Am J Med Genet A. 2014 Nov;164A(11):2814-21. doi: 10.1002/ajmg.a.36737. Epub 2014 Sep 22. Review.

PMID:
25250515
15.

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD.

Nat Genet. 2007 Aug;39(8):1007-12. Epub 2007 Jul 1.

PMID:
17603483
16.

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.

17.

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
18.
19.

Genotype and phenotype spectrum of NRAS germline variants.

Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, Baynam G, Buscarilli M, Dyack S, Gillis J, Yntema HG, Pantaleoni F, van Loon RL, MacKay S, Mina K, Schanze I, Tan TY, Walsh M, White SM, Niewisch MR, García-Miñaúr S, Plaza D, Ahmadian MR, Cavé H, Tartaglia M, Zenker M.

Eur J Hum Genet. 2017 Jun;25(7):823-831. doi: 10.1038/ejhg.2017.65. Epub 2017 May 3.

20.

Behavioral profile in RASopathies.

Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S.

Am J Med Genet A. 2014 Apr;164A(4):934-42. doi: 10.1002/ajmg.a.36374. Epub 2014 Jan 23.

PMID:
24458522

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