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Items: 1 to 20 of 37

1.

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA.

Pediatrics. 2014 Oct;134(4):e1149-62. doi: 10.1542/peds.2013-3189. Epub 2014 Sep 1. Review.

2.

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.

3.

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA.

Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2.

4.

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.

Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan..

Am J Med Genet A. 2012 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292. Epub 2012 Apr 11.

PMID:
22495831
5.

BRAF gene deletion broadens the clinical spectrum neuro-cardio-facial-cutaneous syndromes.

Yu S, Graf WD.

J Child Neurol. 2011 Dec;26(12):1593-6. doi: 10.1177/0883073811413830. Epub 2011 Aug 23.

PMID:
21862832
6.

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.

Stark Z, Gillessen-Kaesbach G, Ryan MM, Cirstea IC, Gremer L, Ahmadian MR, Savarirayan R, Zenker M.

Clin Genet. 2012 Jun;81(6):590-4. doi: 10.1111/j.1399-0004.2011.01754.x. Epub 2011 Aug 18.

PMID:
21797849
7.

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):129-35. doi: 10.1002/ajmg.c.30295. Epub 2011 Apr 14.

8.

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.

Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil DH.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):136-46. doi: 10.1002/ajmg.c.30294. Epub 2011 Apr 14.

9.

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.

Siegel DH, McKenzie J, Frieden IJ, Rauen KA.

Br J Dermatol. 2011 Mar;164(3):521-9. doi: 10.1111/j.1365-2133.2010.10122.x. Epub 2011 Jan 28.

10.

Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.

Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB.

Clin Genet. 2011 May;79(5):468-74. doi: 10.1111/j.1399-0004.2010.01495.x.

PMID:
20735442
11.

Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.

Ohtake A, Aoki Y, Saito Y, Niihori T, Shibuya A, Kure S, Matsubara Y.

J Pediatr Hematol Oncol. 2011 Dec;33(8):e342-6. doi: 10.1097/MPH.0b013e3181df5e5b.

PMID:
20523244
12.

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y.

Am J Med Genet A. 2010 Apr;152A(4):807-14. doi: 10.1002/ajmg.a.33342.

13.

A restricted spectrum of NRAS mutations causes Noonan syndrome.

Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M.

Nat Genet. 2010 Jan;42(1):27-9. doi: 10.1038/ng.497. Epub 2009 Dec 6.

14.

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

Tidyman WE, Rauen KA.

Curr Opin Genet Dev. 2009 Jun;19(3):230-6. doi: 10.1016/j.gde.2009.04.001. Epub 2009 May 19. Review.

15.

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

Sol-Church K, Stabley DL, Demmer LA, Agbulos A, Lin AE, Smoot L, Nicholson L, Gripp KW.

Am J Med Genet A. 2009 Mar;149A(3):315-21. doi: 10.1002/ajmg.a.32639.

16.

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M.

Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955.

17.

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
18.

Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.

Marks JL, Gong Y, Chitale D, Golas B, McLellan MD, Kasai Y, Ding L, Mardis ER, Wilson RK, Solit D, Levine R, Michel K, Thomas RK, Rusch VW, Ladanyi M, Pao W.

Cancer Res. 2008 Jul 15;68(14):5524-8. doi: 10.1158/0008-5472.CAN-08-0099.

19.

Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

Estep AL, Palmer C, McCormick F, Rauen KA.

PLoS One. 2007 Dec 5;2(12):e1279.

20.

Neurological complications of cardio-facio-cutaneous syndrome.

Yoon G, Rosenberg J, Blaser S, Rauen KA.

Dev Med Child Neurol. 2007 Dec;49(12):894-9.

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