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Results: 1 to 20 of 48

1.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome with Variable Cardiac Anomalies.

Southgate L, Sukalo M, Karountzos AS, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC.

Circ Cardiovasc Genet. 2015 May 11. pii: CIRCGENETICS.115.001086. [Epub ahead of print]

PMID:
25963545
2.

Development of secondary mutations in wild-type and mutant EZH2 alleles cooperates to confer resistance to EZH2 inhibitors.

Gibaja V, Shen F, Harari J, Korn J, Ruddy D, Saenz-Vash V, Zhai H, Rejtar T, Paris CG, Yu Z, Lira M, King D, Qi W, Keen N, Hassan AQ, Chan HM.

Oncogene. 2015 Apr 20. doi: 10.1038/onc.2015.114. [Epub ahead of print]

PMID:
25893294
3.

Structure-Function Relationships for Electrocatalytic Water Oxidation by Molecular [Mn12O12] Clusters.

Yan Y, Lee JS, Ruddy DA.

Inorg Chem. 2015 May 4;54(9):4550-5. doi: 10.1021/acs.inorgchem.5b00398. Epub 2015 Apr 17.

PMID:
25884959
4.

Studying clonal dynamics in response to cancer therapy using high-complexity barcoding.

Bhang HE, Ruddy DA, Krishnamurthy Radhakrishna V, Caushi JX, Zhao R, Hims MM, Singh AP, Kao I, Rakiec D, Shaw P, Balak M, Raza A, Ackley E, Keen N, Schlabach MR, Palmer M, Leary RJ, Chiang DY, Sellers WR, Michor F, Cooke VG, Korn JM, Stegmeier F.

Nat Med. 2015 May;21(5):440-8. doi: 10.1038/nm.3841. Epub 2015 Apr 13.

PMID:
25849130
5.

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M.

Hum Mutat. 2015 Jun;36(6):593-8. doi: 10.1002/humu.22795. Epub 2015 Apr 21.

PMID:
25824905
6.

A chemical genetics approach for the functional assessment of novel cancer genes.

Zhou Q, Derti A, Ruddy D, Rakiec D, Kao I, Lira M, Gibaja V, Chan H, Yang Y, Min J, Schlabach MR, Stegmeier F.

Cancer Res. 2015 May 15;75(10):1949-58. doi: 10.1158/0008-5472.CAN-14-2930. Epub 2015 Mar 18.

PMID:
25788694
7.

Loss of Tuberous Sclerosis Complex 2 (TSC2) Is Frequent in Hepatocellular Carcinoma and Predicts Response to mTORC1 Inhibitor Everolimus.

Huynh H, Hao HX, Chan SL, Chen D, Ong R, Soo KC, Pochanard P, Yang D, Ruddy D, Liu M, Derti A, Balak MN, Palmer MR, Wang Y, Lee BH, Sellami D, Zhu AX, Schlegel R, Huang A.

Mol Cancer Ther. 2015 May;14(5):1224-35. doi: 10.1158/1535-7163.MCT-14-0768. Epub 2015 Feb 27.

PMID:
25724664
8.

FGFR-Mediated Reactivation of MAPK Signaling Attenuates Antitumor Effects of Imatinib in Gastrointestinal Stromal Tumors.

Li F, Huynh H, Li X, Ruddy DA, Wang Y, Ong R, Chow P, Qiu S, Tam A, Rakiec DP, Schlegel R, Monahan JE, Huang A.

Cancer Discov. 2015 Apr;5(4):438-51. doi: 10.1158/2159-8290.CD-14-0763. Epub 2015 Feb 11.

PMID:
25673643
9.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR.

J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.

10.

Pharmacological and genomic profiling identifies NF-κB-targeted treatment strategies for mantle cell lymphoma.

Rahal R, Frick M, Romero R, Korn JM, Kridel R, Chan FC, Meissner B, Bhang HE, Ruddy D, Kauffmann A, Farsidjani A, Derti A, Rakiec D, Naylor T, Pfister E, Kovats S, Kim S, Dietze K, Dörken B, Steidl C, Tzankov A, Hummel M, Monahan J, Morrissey MP, Fritsch C, Sellers WR, Cooke VG, Gascoyne RD, Lenz G, Stegmeier F.

Nat Med. 2014 Jan;20(1):87-92. doi: 10.1038/nm.3435. Epub 2013 Dec 22.

PMID:
24362935
11.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N.

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.

12.

Chloride channels in myotonia congenita assessed by velocity recovery cycles.

Tan SV, Z'Graggen WJ, Boërio D, Rayan DR, Norwood F, Ruddy D, Howard R, Hanna MG, Bostock H.

Muscle Nerve. 2014 Jun;49(6):845-57. doi: 10.1002/mus.24069. Epub 2014 May 2.

13.

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.

Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network, Nguyen HP.

PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013.

14.

Suicidal ideation in a European Huntington's disease population.

Hubers AA, van Duijn E, Roos RA, Craufurd D, Rickards H, Bernhard Landwehrmeyer G, van der Mast RC, Giltay EJ; REGISTRY investigators of the European Huntington's Disease Network.

J Affect Disord. 2013 Oct;151(1):248-58. doi: 10.1016/j.jad.2013.06.001. Epub 2013 Jul 20.

15.

An F876L mutation in androgen receptor confers genetic and phenotypic resistance to MDV3100 (enzalutamide).

Korpal M, Korn JM, Gao X, Rakiec DP, Ruddy DA, Doshi S, Yuan J, Kovats SG, Kim S, Cooke VG, Monahan JE, Stegmeier F, Roberts TM, Sellers WR, Zhou W, Zhu P.

Cancer Discov. 2013 Sep;3(9):1030-43. doi: 10.1158/2159-8290.CD-13-0142. Epub 2013 Jul 10.

16.

Targeting HSF1 sensitizes cancer cells to HSP90 inhibition.

Chen Y, Chen J, Loo A, Jaeger S, Bagdasarian L, Yu J, Chung F, Korn J, Ruddy D, Guo R, McLaughlin ME, Feng F, Zhu P, Stegmeier F, Pagliarini R, Porter D, Zhou W.

Oncotarget. 2013 Jun;4(6):816-29.

17.

β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease.

Vittori A, Orth M, Roos RA, Outeiro TF, Giorgini F, Hollox EJ; Registry investigators of the European Huntington's Disease Network.

J Huntingtons Dis. 2013;2(1):107-24. doi: 10.3233/JHD-130002.

PMID:
25057107
18.

A randomized, double-blind, placebo-controlled study of latrepirdine in patients with mild to moderate Huntington disease.

HORIZON Investigators of the Huntington Study Group and European Huntington's Disease Network.

JAMA Neurol. 2013 Jan;70(1):25-33. doi: 10.1001/2013.jamaneurol.382.

PMID:
23108692
19.

Control of PbSe quantum dot surface chemistry and photophysics using an alkylselenide ligand.

Hughes BK, Ruddy DA, Blackburn JL, Smith DK, Bergren MR, Nozik AJ, Johnson JC, Beard MC.

ACS Nano. 2012 Jun 26;6(6):5498-506. doi: 10.1021/nn301405j. Epub 2012 May 17.

PMID:
22571723
20.

Pharmacists' knowledge, attitudes, and practices regarding influenza vaccination and treatment of pregnant women.

Dolan SM, Cox S, Tepper N, Ruddy D, Rasmussen SA, MacFarlane K.

J Am Pharm Assoc (2003). 2012 Jan-Feb;52(1):43-51. doi: 10.1331/JAPhA.2012.10141.

PMID:
22257615
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