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Items: 1 to 20 of 40

1.

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.

Mucciolo M, Dello Russo C, D'Emidio L, Mesoraca A, Giorlandino C.

Int J Mol Sci. 2016 Jun 16;17(6). pii: E952.

2.

Dabrafenib in an elderly patient with metastatic melanoma and BRAF V600R mutation: a case report.

Casadevall D, Vidal J, Gallardo F, Zuccarino F, Arumí-Uría M, Dalmases A, Bellosillo B, Montagut C.

J Med Case Rep. 2016 Jun 2;10(1):158. doi: 10.1186/s13256-016-0953-0.

3.

Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.

Cashman TJ, Josowitz R, Johnson BV, Gelb BD, Costa KD.

PLoS One. 2016 Jan 19;11(1):e0146697. doi: 10.1371/journal.pone.0146697. eCollection 2016.

4.

The yin-yang of kinase activation and unfolding explains the peculiarity of Val600 in the activation segment of BRAF.

Kiel C, Benisty H, Lloréns-Rico V, Serrano L.

Elife. 2016 Jan 8;5:e12814. doi: 10.7554/eLife.12814.

5.

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.

6.

The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).

Hernández-Porras I, Jiménez-Catalán B, Schuhmacher AJ, Guerra C.

Rare Dis. 2015 May 22;3(1):e1045169. doi: 10.1080/21675511.2015.1045169. eCollection 2015.

7.

BRAF gene: From human cancers to developmental syndromes.

Hussain MR, Baig M, Mohamoud HS, Ulhaq Z, Hoessli DC, Khogeer GS, Al-Sayed RR, Al-Aama JY.

Saudi J Biol Sci. 2015 Jul;22(4):359-73. doi: 10.1016/j.sjbs.2014.10.002. Epub 2014 Oct 23. Review.

8.

Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as a Model for Heart Development and Congenital Heart Disease.

Doyle MJ, Lohr JL, Chapman CS, Koyano-Nakagawa N, Garry MG, Garry DJ.

Stem Cell Rev. 2015 Oct;11(5):710-27. doi: 10.1007/s12015-015-9596-6. Review.

PMID:
26085192
9.

Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.

Clay SA, Domeier TL, Hanft LM, McDonald KS, Krenz M.

Am J Physiol Heart Circ Physiol. 2015 May 1;308(9):H1086-95. doi: 10.1152/ajpheart.00501.2014. Epub 2015 Feb 27.

10.

Giant cell lesions of the craniofacial bones.

Flanagan AM, Speight PM.

Head Neck Pathol. 2014 Dec;8(4):445-53. doi: 10.1007/s12105-014-0589-6. Epub 2014 Nov 20. Review. No abstract available.

11.

Clinical and Molecular Findings of Tunisian Patients with RASopathies.

Louati R, Abdelmoula NB, Trabelsi I, Abid D, Lissewski C, Kharrat N, Kamoun S, Zenker M, Rebai T.

Mol Syndromol. 2014 Aug;5(5):212-7. doi: 10.1159/000362898. Epub 2014 May 23.

12.

Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.

Yu ZH, Zhang RY, Walls CD, Chen L, Zhang S, Wu L, Liu S, Zhang ZY.

Biochemistry. 2014 Jul 1;53(25):4136-51. doi: 10.1021/bi5002695. Epub 2014 Jun 17.

13.

Understanding intellectual disability through RASopathies.

San Martín A, Pagani MR.

J Physiol Paris. 2014 Sep-Dec;108(4-6):232-9. doi: 10.1016/j.jphysparis.2014.05.003. Epub 2014 May 21. Review.

14.

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C, Serrano L.

Mol Syst Biol. 2014 May 6;10:727. doi: 10.1002/msb.20145092.

15.

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.

16.

Genetic predispositions to childhood leukemia.

Stieglitz E, Loh ML.

Ther Adv Hematol. 2013 Aug;4(4):270-90. doi: 10.1177/2040620713498161.

17.

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.

18.

The etiology and molecular genetics of human pigmentation disorders.

Baxter LL, Pavan WJ.

Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):379-92. doi: 10.1002/wdev.72. Epub 2012 May 17. Review.

19.

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.

Timeus F, Crescenzio N, Baldassarre G, Doria A, Vallero S, Foglia L, Pagliano S, Rossi C, Silengo MC, Ramenghi U, Fagioli F, Cordero di Montezemolo L, Ferrero GB.

Oncol Rep. 2013 Aug;30(2):553-9. doi: 10.3892/or.2013.2535. Epub 2013 Jun 11.

20.

Automated universal BRAF state detection within the activation segment in skin metastases by pyrosequencing-based assay U-BRAF(V600).

Skorokhod A, Helmbold P, Brors B, Schirmacher P, Enk A, Penzel R.

PLoS One. 2013;8(3):e59221. doi: 10.1371/journal.pone.0059221. Epub 2013 Mar 26.

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