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Items: 8

1.

A phase 1b dose-escalation and expansion study of the BCL-2 inhibitor venetoclax combined with tamoxifen in ER and BCL-2-positive metastatic breast cancer.

Lindeman GJ, Lok SW, Whittle JR, Vaillant F, Teh CE, Lo LL, Policheni AN, Bergin ART, Desai J, Ftouni S, Gandolfo LC, Liew D, Liu HK, Mann GB, Moodie K, Murugasu A, Pal B, Roberts AW, Rosenthal MA, Shackleton K, Silva MJ, Siow ZR, Smyth GK, Taylor L, Travers A, Yeo B, Yeung MM, Zivanovic Bujak A, Dawson SJ, Gray DHD, Visvader JE.

Cancer Discov. 2018 Dec 5. pii: CD-18-1151. doi: 10.1158/2159-8290.CD-18-1151. [Epub ahead of print]

PMID:
30518523
2.

RLE plots: Visualizing unwanted variation in high dimensional data.

Gandolfo LC, Speed TP.

PLoS One. 2018 Feb 5;13(2):e0191629. doi: 10.1371/journal.pone.0191629. eCollection 2018.

3.

A critical epithelial survival axis regulated by MCL-1 maintains thymic function in mice.

Jain R, Sheridan JM, Policheni A, Heinlein M, Gandolfo LC, Dewson G, Smyth GK, Sansom SN, Fu NY, Visvader JE, Holländer GA, Strasser A, Gray DHD.

Blood. 2017 Dec 7;130(23):2504-2515. doi: 10.1182/blood-2017-03-771576. Epub 2017 Sep 29.

4.

Dating rare mutations from small samples with dense marker data.

Gandolfo LC, Bahlo M, Speed TP.

Genetics. 2014 Aug;197(4):1315-27. doi: 10.1534/genetics.114.164616. Epub 2014 May 30.

5.

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR.

Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015. Epub 2014 Jan 23.

6.

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF.

Brain. 2013 Apr;136(Pt 4):1146-54. doi: 10.1093/brain/awt021. Epub 2013 Feb 28.

PMID:
23449775
7.

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

Oates EC, Reddel S, Rodriguez ML, Gandolfo LC, Bahlo M, Hawke SH, Lamandé SR, Clarke NF, North KN.

Brain. 2012 Jun;135(Pt 6):1714-23. doi: 10.1093/brain/aws108.

PMID:
22628388
8.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):657-63. doi: 10.1016/j.ajhg.2011.04.011. Epub 2011 May 5.

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