OpenURL Connection Search

Select item for more details and to access through your institution.

Normal Gamma Glutamyl Transferase Levels at Presentation Predict Poor Outcome in Biliary Atresia.
Published in:
2020
By:
- Shankar, Sahana;
- Bolia, Rishi;
- Hee Wei Foo;
- D’Arcy, Colleen E.;
- Hardikar, Natasha;
- Wensing, Martin;
- Hardikar, Winita;
- Foo, Hee Wei;
- D'Arcy, Colleen E
Publication type:
journal article
Bilateral Congenital Adrenal Agenesis: A Rare Disease Entity and Not a Result of Poor Autopsy Technique.
Published in:
2014
By:
- D'ARCY, COLLEEN;
- PERTILE, MARK;
- GOODWIN, T ESS;
- BITTINGER, SOPHIE
Publication type:
Case Study
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
Published in:
2015
By:
- D’Arcy, Colleen;
- Kanellakis, Voula;
- Forbes, Robin;
- Wilding, Brendan;
- McGrath, Meagan;
- Howell, Katherine;
- Ryan, Monique;
- McLean, Catriona
Publication type:
Case Study
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1264, doi. 10.1093/brain/awad379
By:
- Macdonald-Laurs, Emma;
- Warren, Aaron E L;
- Francis, Peter;
- Mandelstam, Simone A;
- Lee, Wei Shern;
- Coleman, Matthew;
- Stephenson, Sarah E M;
- Barton, Sarah;
- D'Arcy, Colleen;
- Lockhart, Paul J;
- Leventer, Richard J;
- Harvey, A Simon
Publication type:
Article
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Published in:
2022
By:
- Van Bergen, Nicole J.;
- Hock, Daniella H.;
- Spencer, Lucy;
- Massey, Sean;
- Stait, Tegan;
- Stark, Zornitza;
- Lunke, Sebastian;
- Roesley, Ain;
- Peters, Heidi;
- Lee, Joy Yaplito;
- Le Fevre, Anna;
- Heath, Oliver;
- Mignone, Cristina;
- Yang, Joseph Yuan-Mou;
- Ryan, Monique M.;
- D'Arcy, Colleen;
- Nash, Margot;
- Smith, Sile;
- Caruana, Nikeisha J.;
- Thorburn, David R.
Publication type:
Case Study
Naevoid miliaria profunda, successfully treated with botulinum toxin.
Published in:
Australasian Journal of Dermatology, 2024, v. 65, n. 4, p. 399, doi. 10.1111/ajd.14256
By:
- Berry, William;
- D'Arcy, Colleen;
- Welsh, Belinda;
- Orchard, David;
- Bekhor, Philip S.;
- Robertson, Susan J.
Publication type:
Article
Acquired idiopathic lipoatrophic panniculitis in a 12-month-old infant.
Published in:
Australasian Journal of Dermatology, 2015, v. 56, n. 4, p. e102, doi. 10.1111/ajd.12159
By:
- Ng, Su Yuen;
- D'Arcy, Colleen;
- Orchard, David
Publication type:
Article
Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-30395-4
By:
- Ajuyah, Pamela;
- Mayoh, Chelsea;
- Lau, Loretta M. S.;
- Barahona, Paulette;
- Wong, Marie;
- Chambers, Hazel;
- Valdes-Mora, Fatima;
- Senapati, Akanksha;
- Gifford, Andrew J.;
- D'Arcy, Colleen;
- Hansford, Jordan R.;
- Manoharan, Neevika;
- Nicholls, Wayne;
- Williams, Molly M.;
- Wood, Paul J.;
- Cowley, Mark J.;
- Tyrrell, Vanessa;
- Haber, Michelle;
- Ekert, Paul G.;
- Ziegler, David S.
Publication type:
Article
FHL1 Reduces Dystrophy in Transgenic Mice Overexpressing FSHD Muscular Dystrophy Region Gene 1 (FRG1).
Published in:
PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117665
By:
- Feeney, Sandra J.;
- McGrath, Meagan J.;
- Sriratana, Absorn;
- Gehrig, Stefan M.;
- Lynch, Gordon S.;
- D’Arcy, Colleen E.;
- Price, John T.;
- McLean, Catriona A.;
- Tupler, Rossella;
- Mitchell, Christina A.
Publication type:
Article
Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia.
Published in:
Epilepsia Open, 2023, v. 8, n. 1, p. 205, doi. 10.1002/epi4.12678
By:
- Lee, Wei Shern;
- Macdonald‐Laurs, Emma;
- Stephenson, Sarah E M;
- D'Arcy, Colleen;
- MacGregor, Duncan;
- Leventer, Richard J;
- Maixner, Wirginia;
- Harvey, A Simon;
- Lockhart, Paul J
Publication type:
Article
Juvenile polymyositis or paediatric muscular dystrophy: a detailed re-analysis of 13 cases.
Published in:
Histopathology, 2009, v. 55, n. 4, p. 452, doi. 10.1111/j.1365-2559.2009.03407.x
By:
- D’Arcy, Colleen E.;
- Ryan, Monique M.;
- McLean, Catriona A.
Publication type:
Article
Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.
Published in:
Journal of Clinical Immunology, 2019, v. 39, n. 3, p. 324, doi. 10.1007/s10875-019-00602-x
By:
- Slade, Charlotte A.;
- McLean, Catriona;
- Scerri, Thomas;
- Giang, Tran Binh;
- Megaloudis, Steven;
- Strathmore, Alexander;
- Tempany, Jessica C.;
- Nicholls, Katherine;
- D'Arcy, Colleen;
- Bahlo, Melanie;
- Hodgkin, Philip D.;
- Douglass, Jo A.;
- Bryant, Vanessa L.
Publication type:
Article
Identification of FHL1 as a therapeutic target for Duchenne muscular dystrophy.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 3, p. 618, doi. 10.1093/hmg/ddt449
By:
- D'Arcy, Colleen E.;
- Feeney, Sandra J.;
- McLean, Catriona A.;
- Gehrig, Stefan M.;
- Lynch, Gordon S.;
- Smith, Jaclyn E.;
- Cowling, Belinda S.;
- Mitchell, Christina A.;
- McGrath, Meagan J.
Publication type:
Article
An unexpected disease course for a patient with diffuse midline glioma.
Published in:
2021
By:
- Malalasekera, Vajiranee S.;
- D'Arcy, Colleen E.;
- Mignone, Cristina;
- Wray, Alison C.;
- Nazarian, Javad;
- Freeman, Jeremy L.;
- Hansford, Jordan R.
Publication type:
Case Study
Novel high‐affinity EGFRvIII‐specific chimeric antigen receptor T cells effectively eliminate human glioblastoma.
Published in:
2021
By:
- Abbott, Rebecca C;
- Verdon, Daniel J;
- Gracey, Fiona M;
- Hughes‐Parry, Hannah E;
- Iliopoulos, Melinda;
- Watson, Katherine A;
- Mulazzani, Matthias;
- Luong, Kylie;
- D'Arcy, Colleen;
- Sullivan, Lucy C;
- Kiefel, Ben R;
- Cross, Ryan S;
- Jenkins, Misty R
Publication type:
Correction Notice
Novel high‐affinity EGFRvIII‐specific chimeric antigen receptor T cells effectively eliminate human glioblastoma.
Published in:
Clinical & Translational Immunology, 2021, v. 10, n. 5, p. 1, doi. 10.1002/cti2.1283
By:
- Abbott, Rebecca C;
- Verdon, Daniel J;
- Gracey, Fiona M;
- Hughes‐Parry, Hannah E;
- Iliopoulos, Melinda;
- Watson, Katherine A;
- Mulazzani, Matthias;
- Luong, Kylie;
- D'Arcy, Colleen;
- Sullivan, Lucy C;
- Kiefel, Ben R;
- Cross, Ryan S;
- Jenkins, Misty R
Publication type:
Article

Found: 16