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CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Published in:
2020
By:
- Dobson-Stone, Carol;
- Hallupp, Marianne;
- Shahheydari, Hamideh;
- Ragagnin, Audrey M G;
- Chatterton, Zac;
- Carew-Jones, Francine;
- Shepherd, Claire E;
- Stefen, Holly;
- Paric, Esmeralda;
- Fath, Thomas;
- Thompson, Elizabeth M;
- Blumbergs, Peter;
- Short, Cathy L;
- Field, Colin D;
- Panegyres, Peter K;
- Hecker, Jane;
- Nicholson, Garth;
- Shaw, Alex D;
- Fullerton, Janice M;
- Luty, Agnes A
Publication type:
journal article
Epilepsy With Cognitive Deficit and Autism Spectrum Disorders: Prospective Diagnosis by Array CGH.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 1, p. 24, doi. 10.1002/ajmg.b.32114
By:
- Nicholl, Jillian;
- Waters, Wendy;
- Suwalski, Shanna;
- Brown, Sue;
- Hull, Yvonne;
- Harbord, Michael G.;
- Entwistle, John;
- Thompson, Suzanna;
- Clark, Damian;
- Pridmore, Claire;
- Haan, Eric;
- Barnett, Christopher;
- McGregor, Lesley;
- Liebelt, Jan;
- Thompson, Elizabeth M.;
- Friend, Kathryn;
- Bain, Sharon M.;
- Yu, Sui;
- Mulley, John C.
Publication type:
Article
EXPRESSION OF THE MULTIFUNCTIONAL EXTRACELLULAR MATRIX PROTEIN THROMBOSPONDIN IN CRESCENTIC GLOMERULONEPHRITIS.
Published in:
Journal of Pathology, 1996, v. 178, n. 1, p. 89, doi. 10.1002/(SICI)1096-9896(199601)178:1<89::AID-PATH457>3.0.CO;2-4
By:
- THOMPSON, ELIZABETH M.;
- HIGHES, JEREMY;
- VAN NOORDEN, SUSAN;
- SHARPE, JULIA;
- SAVILL, JOHN
Publication type:
Article
Expression and localization of plasminogen activator inhibitor 1 mRNA in transplant kidneys.
Published in:
Journal of Pathology, 1993, v. 169, n. 4, p. 445, doi. 10.1002/path.1711690410
By:
- Wang, Yiming;
- Thompson, Elizabeth M.;
- Whawel, Simon A.;
- Fleming, Kenneth A.
Publication type:
Article
Localization of plasminogen activator inhibitor-1 production in inflamed appendix by in situ mRNA hybridization.
Published in:
Journal of Pathology, 1993, v. 169, n. 1, p. 67, doi. 10.1002/path.1711690111
By:
- Whawell, Simon A.;
- Wang, Yiming;
- Fleming, Kenneth A.;
- Thompson, Elizabeth M.;
- Thompson, Jeremy N
Publication type:
Article
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
Published in:
Nature Genetics, 1999, v. 22, n. 4, p. 400, doi. 10.1038/11976
By:
- Gedeon, Ági K.;
- Colley, Alison;
- Jamieson, Robyn;
- Thompson, Elizabeth M.;
- Rogers, John;
- Sillence, David;
- Tiller, George E.;
- Mulley, John C.;
- Gécz, Jozef
Publication type:
Article
JCAHO Preparation: An Educational Plan.
Published in:
Journal of Continuing Education in Nursing, 2008, v. 39, n. 5, p. 225, doi. 10.3928/00220124-20080501-09
By:
- Thompson, Elizabeth M.;
- Pool, Sarah;
- Brown, Dianne;
- Clark, James;
- Ford, Donna;
- Gillett, Craig;
- Hansen, Judith;
- Koehler, Suzanne;
- Miller, Sandra;
- Nadeau, Shelia;
- Wilson, Kathy;
- Zastrow, Sheri
Publication type:
Article
<i>C9ORF72</i> Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056899
By:
- Dobson-Stone, Carol;
- Hallupp, Marianne;
- Loy, Clement T.;
- Thompson, Elizabeth M.;
- Haan, Eric;
- Sue, Carolyn M.;
- Panegyres, Peter K.;
- Razquin, Cristina;
- Seijo-Martínez, Manuel;
- Rene, Ramon;
- Gascon, Jordi;
- Campdelacreu, Jaume;
- Schmoll, Birgit;
- Volk, Alexander E.;
- Brooks, William S.;
- Schofield, Peter R.;
- Pastor, Pau;
- Kwok, John B. J.
Publication type:
Article
Functional performance in young Australian children with achondroplasia.
Published in:
Developmental Medicine & Child Neurology, 2011, v. 53, n. 10, p. 944, doi. 10.1111/j.1469-8749.2011.04050.x
By:
- IRELAND, PENELOPE JANE;
- MCGILL, JAMES;
- ZANKL, ANDREAS;
- WARE, ROBERT S;
- PACEY, VERITY;
- AULT, JENNY;
- SAVARIRAYAN, RAVI;
- SILLENCE, DAVID;
- THOMPSON, ELIZABETH M;
- TOWNSHEND, SHARRON;
- JOHNSTON, LEANNE MARIE
Publication type:
Article
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.
Published in:
2008
By:
- Luty, Agnes A.;
- Kwok, John B. J.;
- Thompson, Elizabeth M.;
- Blumbergs, Peter;
- Brooks, William S.;
- Loy, Clement T.;
- Dobson-Stone, Carol;
- Panegyres, Peter K.;
- Hecker, Jane;
- Nicholson, Garth A.;
- Halliday, Glenda M.;
- Schofield, Peter R.
Publication type:
journal article
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 494, doi. 10.1038/ejhg.2012.209
By:
- Reinstein, Eyal;
- Frentz, Sophia;
- Morgan, Tim;
- García-Miñaúr, Sixto;
- Leventer, Richard J;
- McGillivray, George;
- Pariani, Mitchel;
- van der Steen, Anthony;
- Pope, Michael;
- Holder-Espinasse, Muriel;
- Scott, Richard;
- Thompson, Elizabeth M;
- Robertson, Terry;
- Coppin, Brian;
- Siegel, Robert;
- Bret Zurita, Montserrat;
- Rodríguez, Jose I;
- Morales, Carmen;
- Rodrigues, Yuri;
- Arcas, Joaquín
Publication type:
Article
Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
Published in:
Pediatric Dermatology, 2016, v. 33, n. 3, p. 337, doi. 10.1111/pde.12841
By:
- Forrest, Charlotte E.;
- Casey, Genevieve;
- Mordaunt, Dylan A.;
- Thompson, Elizabeth M.;
- Gordon, Lynne
Publication type:
Article
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 277, doi. 10.1111/cge.14261
By:
- Croft, Brittany;
- Bird, Anthony D.;
- Ono, Makoto;
- Eggers, Stefanie;
- Bagheri‐Fam, Stefan;
- Ryan, Janelle M.;
- Reyes, Alejandra P.;
- van den Bergen, Jocelyn;
- Baxendale, Anne;
- Thompson, Elizabeth M.;
- Kueh, Andrew J.;
- Stanton, Peter;
- Thomas, Tim;
- Sinclair, Andrew H.;
- Harley, Vincent R.
Publication type:
Article
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Published in:
Annals of Neurology, 2007, v. 62, n. 4, p. 390, doi. 10.1002/ana.21213
By:
- Baker, Naomi L.;
- Mörgelin, Matthias;
- Pace, Rishika A.;
- Peat, Rachel A.;
- Adams, Naomi E.;
- Gardner, R. J. McKinlay;
- Rowland, Lewis P.;
- Miller, Geoffrey;
- De Jonghe, Peter;
- Ceulemans, Berten;
- Hannibal, Mark C.;
- Edwards, Matthew;
- Thompson, Elizabeth M.;
- Jacobson, Richard;
- Quinlivan, Ros C. M.;
- Aftimos, Salim;
- Kornberg, Andrew J.;
- North, Kathryn N.;
- Bateman, John F.;
- Lamandé, Shireen R.
Publication type:
Article
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Published in:
Human Mutation, 2018, v. 39, n. 1, p. 124, doi. 10.1002/humu.23354
By:
- Robevska, Gorjana;
- van den Bergen, Jocelyn A.;
- Ohnesorg, Thomas;
- Eggers, Stefanie;
- Hanna, Chloe;
- Hersmus, Remko;
- Thompson, Elizabeth M.;
- Baxendale, Anne;
- Verge, Charles F.;
- Lafferty, Antony R.;
- Marzuki, Nanis S.;
- Santosa, Ardy;
- Listyasari, Nurin A.;
- Riedl, Stefan;
- Warne, Garry;
- Looijenga, Leendert;
- Faradz, Sultana;
- Ayers, Katie L.;
- Sinclair, Andrew H.
Publication type:
Article
Mutation in the carboxy-terminal propeptide of the proα1 (I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): Possible implications for protein folding.
Published in:
Human Mutation, 1996, v. 7, n. 4, p. 318, doi. 10.1002/(SICI)1098-1004(1996)7:4<318::AID-HUMU5>3.0.CO;2-4
By:
- Oliver, Jane E.;
- Thompson, Elizabeth M.;
- Pope, F. Michael;
- Nicholls, Alan C.
Publication type:
Article

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