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Items: 1 to 20 of 38

1.

In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy.

Wang J, Chandrasekhar V, Abbadessa G, Yu Y, Schwartz B, Kontaridis MI.

PLoS One. 2017 Jun 5;12(6):e0178905. doi: 10.1371/journal.pone.0178905. eCollection 2017.

2.

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Zhang J, Li M, Yao Z.

Mol Med Rep. 2016 Nov;14(5):4023-4029. doi: 10.3892/mmr.2016.5760. Epub 2016 Sep 22. Review.

3.

The function of Shoc2: A scaffold and beyond.

Jang ER, Galperin E.

Commun Integr Biol. 2016 May 18;9(4):e1188241. doi: 10.1080/19420889.2016.1188241. eCollection 2016 Jul-Aug.

4.

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy.

Lim YH, Ovejero D, Derrick KM; Yale Center for Mendelian Genomics, Collins MT, Choate KA.

J Am Acad Dermatol. 2016 Aug;75(2):420-7. doi: 10.1016/j.jaad.2015.11.012. Review.

5.

P2A-Fluorophore Tagging of BRAF Tightly Links Expression to Fluorescence In Vivo.

van Veen JE, Pringle DR, McMahon M.

PLoS One. 2016 Jun 27;11(6):e0157661. doi: 10.1371/journal.pone.0157661. eCollection 2016.

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.

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

Qi Z, Jeng LJ, Slavotinek A, Yu J.

BMC Med Genomics. 2015 Jul 15;8:38. doi: 10.1186/s12920-015-0113-1.

8.

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.

9.

Syndrome in question. Costello syndrome.

Peixoto IL, Carreno AM, Prazeres VM, Chirano CA, Ihara GM, Akel PB.

An Bras Dermatol. 2014 Nov-Dec;89(6):1005-6.

10.

Diagnostically relevant facial gestalt information from ordinary photos.

Ferry Q, Steinberg J, Webber C, FitzPatrick DR, Ponting CP, Zisserman A, Nellåker C.

Elife. 2014 Jun 24;3:e02020. doi: 10.7554/eLife.02020.

11.

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.

Justino A, Dias P, João Pina M, Sousa S, Cirnes L, Berta Sousa A, Carlos Machado J, Costa JL.

Eur J Hum Genet. 2015 Mar;23(3):347-53. doi: 10.1038/ejhg.2014.97. Epub 2014 Jun 4.

12.

PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.

Paardekooper Overman J, Yi JS, Bonetti M, Soulsby M, Preisinger C, Stokes MP, Hui L, Silva JC, Overvoorde J, Giansanti P, Heck AJ, Kontaridis MI, den Hertog J, Bennett AM.

Mol Cell Biol. 2014 Aug;34(15):2874-89. doi: 10.1128/MCB.00135-14. Epub 2014 May 27.

13.

A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome.

Hazan F, Karaca E, Koker SA, Korkmaz HA, Mese T, Onay H, Ozkinay F.

Iran J Pediatr. 2013 Oct;23(5):608-9. No abstract available.

14.

Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia.

Çelik N, Cinaz P, Bideci A, Yüce Ö, Emeksiz HC, Döğer E, Çamurdan O.

J Clin Res Pediatr Endocrinol. 2014;6(1):55-8. doi: 10.4274/Jcrpe.1151.

15.

Fibroblast growth factor receptor 1 signaling in adult cardiomyocytes increases contractility and results in a hypertrophic cardiomyopathy.

Cilvik SN, Wang JI, Lavine KJ, Uchida K, Castro A, Gierasch CM, Weinheimer CJ, House SL, Kovacs A, Nichols CG, Ornitz DM.

PLoS One. 2013 Dec 11;8(12):e82979. doi: 10.1371/journal.pone.0082979. eCollection 2013.

16.

Putative role of HIF transcriptional activity in melanocytes and melanoma biology.

Zbytek B, Peacock DL, Seagroves TN, Slominski A.

Dermatoendocrinol. 2013 Apr 1;5(2):239-51. doi: 10.4161/derm.22678. Review.

17.

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.

18.

Nf1 loss and Ras hyperactivation in oligodendrocytes induce NOS-driven defects in myelin and vasculature.

Mayes DA, Rizvi TA, Titus-Mitchell H, Oberst R, Ciraolo GM, Vorhees CV, Robinson AP, Miller SD, Cancelas JA, Stemmer-Rachamimov AO, Ratner N.

Cell Rep. 2013 Sep 26;4(6):1197-212. doi: 10.1016/j.celrep.2013.08.011. Epub 2013 Sep 12.

19.

The RASopathies.

Rauen KA.

Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Review.

20.

Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.

Harmon RM, Simpson CL, Johnson JL, Koetsier JL, Dubash AD, Najor NA, Sarig O, Sprecher E, Green KJ.

J Clin Invest. 2013 Apr;123(4):1556-70. doi: 10.1172/JCI65220. Epub 2013 Mar 25.

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