Elakis, G.: search on Z-Library

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1

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience

Ma, Alan, Gurnasinghani, Sunita, Kirk, Edwin P., McClenaghan, Conor, Singh, Gautam K., Grange, Dorothy K., Pandit, Chetan, Zhou, Ying, Roscioli, Tony, Elakis, George, Buckley, Michael, Mehta, Bhavesh,

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.17 MB

english, 2019

2

Pembrolizumab‐induced sarcoid granulomatous panniculitis and bullous pemphigoid in a single patient

Honigman, Anthony D., Lai, Franics, Elakis, Joshua, Prall, Owen, Goh, Michelle, McCormack, Christopher

Journal:

Clinical Case Reports

Year:

2019

Language:

english

File:

PDF, 320 KB

english, 2019

3

Indications and outcomes of rapid turn around time whole exome sequencing studies

Buckley, Michael F., Elakis, George, Lang, Sarah, Richards, Anna, Cliffe, Corrina, Chan, Cheng-Yee, Kirk, Edwin P., Zhu, Ying, Roscioli, Tony

Journal:

Year:

2020

Language:

english

File:

PDF, 46 KB

english, 2020

4

A case of Beare???Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype

McGaughran, Julie, Sinnott, Stephen, Susman, Rachel, Buckley, Michael F., Elakis, George, Cox, Timothy, Roscioli, Tony

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 154 KB

english, 2006

5

Somatic FGFR and TWIST Mutations are not a Common Cause of Isolated Nonsyndromic Single Suture Craniosynostosis

Anderson, Peter J., Cox, Timothy C., Roscioli, Tony, Elakis, George, Smithers, Lisa, David, David J., Powell, Barry

Journal:

Journal of Craniofacial Surgery

Year:

2007

Language:

english

File:

PDF, 62 KB

english, 2007

6

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

Taylor, P. J, Maroulis, S., Mullan, G. L, Pedersen, R. L, Baumli, A., Elakis, G., Piras, S., Walsh, C., Prosper-Gutierrez, B., De La Puente-Alonso, F., Bell, C. G, Mowat, D. R, Johnston, H. M, Buckley

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 208 KB

english, 2007

7

Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation

Freeman, Lucinda, Elakis, George, Watson, Geoff, Mullan, Glenda L., Taylor, Peter J., Anderson, Peter, Ogle, Robert, Buckley, Michael F., Roscioli, Tony

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 73 KB

english, 2008

8

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre–Chotzen syndrome: An Australian multicenter study

Paul A. James, Bronwyn Culling, Glenda Mullan, Mark Jenkins, George Elakis, Anne M. Turner, David M. Mowat, Meredith Wilson, Peter Anderson, Ravi Savarirayan, Simon T. Cliffe, Melody Caramins, Michael

Journal:

Genes, Chromosomes and Cancer

Year:

2009

Language:

english

File:

PDF, 81 KB

english, 2009

9

Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”

Kirk, Edwin P., Barlow-Stewart, Kristine, Selvanathan, Arthavan, Josephi-Taylor, Sarah, Worgan, Lisa, Rajagopalan, Sulekha, Cowley, Mark J., Gayevskiy, Velimir, Bittles, Alan, Burnett, Leslie, Elakis,

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 235 KB

english, 2018

10

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

Roscioli, T., Elakis, G., Cox, T.C., Moon, D.J., Venselaar, H., Turner, A.M., Le, T., Hackett, E., Haan, E., Colley, A., Mowat, D., Worgan, L., Kirk, E.P., Sachdev, R., Thompson, E., Gabbett, M., McGa

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2013

Language:

english

File:

PDF, 394 KB

english, 2013

11

Validation and implementation of the amplidex fragile X test in an Australian diagnostic laboratory

Galea, Melanie A., Elakis, George, Caramins, Melody C.

Journal:

Year:

2012

Language:

english

File:

PDF, 43 KB

english, 2012

12

Skin disease of penis and male genitalia is linked to atopy and circumcision: caseload in a male genital dermatology clinic

Elakis, Joshua Angelo, Hall, Anthony P.

Journal:

Australasian Journal of Dermatology

Year:

2016

Language:

english

File:

PDF, 67 KB

english, 2016

13

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation

Andreas Zankl, George Elakis, Rachel D. Susman, Garry Inglis, Glenn Gardener, Michael F. Buckley, Tony Roscioli

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 265 KB

english, 2008

14

The validation of a diagnostic exome sequencing service for the investigation of monogenic disorders

Cliffe, C., Elakis, G., Zhu, Y., Mullan, G., Mead, R., Kirk, E., Lau, C., Buckley, M.F., Roscioli, T.

Journal:

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

15

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

Lee, Eric, Le, Trang, Zhu, Ying, Elakis, George, Turner, Anne, Lo, William, Venselaar, Hanka, Verrenkamp, Carol-Ann, Snow, Nicole, Mowat, David, Kirk, Edwin Philip, Sachdev, Rani, Smith, Janine, Brown

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 144 KB

english, 2017

16

Early menopause in a family carrying a fragile X premutation

G. DRISCOLL, J. CLARK, G. ELAKIS, G. TURNER

Journal:

Internal Medicine Journal

Year:

2000

Language:

english

File:

PDF, 343 KB

english, 2000

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