Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Tiffany Wotton"'
Autor:
Lara E. Graves, Eva B. van Dijk, Erhua Zhu, Sundar Koyyalamudi, Tiffany Wotton, Dinah Sung, Shubha Srinivasan, Samantha L. Ginn, Ian E. Alexander
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 2, Pp 101232- (2024)
Despite the availability of life-saving corticosteroids for 70 years, treatment for adrenal insufficiency is not able to recapitulate physiological diurnal cortisol secretion and results in numerous complications. Gene therapy is an attractive possib
Externí odkaz:
https://doaj.org/article/387ce34d92fb4972a41cda974893bd95
Autor:
Natasha Heather, Ronda F. Greaves, Kaustuv Bhattacharya, Lawrence Greed, James Pitt, Carol Wai-Kwan Siu, Mark de Hora, Ricky Price, Enzo Ranieri, Tiffany Wotton, Dianne Webster
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 47 (2024)
A greater number of screened conditions is often considered to equate to better screening, whereas it may be due to conditions being counted differently. This manuscript describes a harmonised Australasian approach to listing target conditions found
Externí odkaz:
https://doaj.org/article/70b1748652df47b9b45550103cd1e7dd
Autor:
Tiffany Wotton, Veronica Wiley, Bruce Bennetts, Louise Christie, Bridget Wilcken, Gemma Jenkins, Carolyn Rogers, Jackie Boyle, Michael Field
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 1, p 9 (2018)
Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess the feasibility and reliability of population screening fo
Externí odkaz:
https://doaj.org/article/63d3a0019aca4329a6125469f294ebf6
Autor:
Rachel Sze Hui Wong, Shekeeb Mohammad, Bindu Parayil Sankaran, Rosie Junek, Won-Tae Kim, Tiffany Wotton, Sushil Bandodkar, Shanti Balasubramaniam
Publikováno v:
Brain and Development.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d0c4c0a1b5e070a9bd351fd49edd657c
https://doi.org/10.1016/j.braindev.2023.04.004
https://doi.org/10.1016/j.braindev.2023.04.004
Autor:
Michelle A, Farrar, Didu, Kariyawasam, Sarah, Grattan, Klair, Bayley, Mark, Davis, Sandra, Holland, Leigh B, Waddel, Kristi, Jones, Michelle, Lorentzos, Anja, Ravine, Tiffany, Wotton, Veronica, Wiley
Publikováno v:
Journal of neuromuscular diseases.
A pilot newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) study proposes to assess the feasibility of the screening procedure, temporal course of the various steps of screening and the public acceptability of the program. This is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::38f9bf48b34f13c90272a3f368fb956d
https://pubmed.ncbi.nlm.nih.gov/36373292
https://pubmed.ncbi.nlm.nih.gov/36373292
Autor:
Tony Huynh, Ronda Greaves, Nazha Mawad, Lawrence Greed, Tiffany Wotton, Veronica Wiley, Enzo Ranieri, Wayne Rankin, Jacobus Ungerer, Ricky Price, Dianne Webster, Natasha Heather
Publikováno v:
Clinical chemistry and laboratory medicineReferences. 60(10)
Objectives Since its implementation 50 years ago in Quebec, Canada, newborn screening for congenital hypothyroidism has become one of the most successful public health measures worldwide. Screening programmes across Australia and New Zealand are char
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef983e22d16d0ce44d0b6b3cf7a10a1
https://pubmed.ncbi.nlm.nih.gov/35998658
https://pubmed.ncbi.nlm.nih.gov/35998658
Autor:
Tony Huynh, Ronda Greaves, Nazha Mawad, Lawrence Greed, Tiffany Wotton, Veronica Wiley, Enzo Ranieri, Wayne Rankin, Jacobus Ungerer, Ricky Price, Dianne Webster, Natasha Heather, Australasian Paediatric Endocrine G Subcommittee
Publikováno v:
SSRN Electronic Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2c65e656e622a92eb0a0d1a20e7b55c
https://doi.org/10.2139/ssrn.4081074
https://doi.org/10.2139/ssrn.4081074
Autor:
Jonathan Cohen, Claudine Kraan, Lesley Bretherton, Carolyn Rogers, Emma Baker, Minh Bui, Michael Field, David Francis, Matt F Hunter, Marta Arpone, Ling Ling, David J. Amor, David E. Godler, Dinusha Gamage, Tiffany Wotton
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 20
International Journal of Molecular Sciences, Vol 21, Iss 7735, p 7735 (2020)
Volume 21
Issue 20
International Journal of Molecular Sciences, Vol 21, Iss 7735, p 7735 (2020)
Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic utility of the Fragile X-Related Epigenetic Element 2 DNA methylation (FREE2m) assessed by Met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3334b57a1058757318549b9d8b24554d
https://doi.org/10.3390/ijms21207735
https://doi.org/10.3390/ijms21207735
Autor:
David J. Amor, Claudine Kraan, Bruce Bennetts, Sylvia A Metcalfe, Ralph Oertel, Tiffany Wotton, Alison D Archibald, David E. Godler, Damien L. Bruno, Michael Field, Melanie J Smith, Louise Christie, Quang M. Bui, David Francis, Desirée du Sart
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(12)
Developmental delay phenotypes have been associated with FMR1 premutation (PM: 55–200 CGG repeats) and “gray zone” (GZ: 45–54 CGG repeats) alleles. However, these associations have not been confirmed by larger studies to be useful in pediatri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ec920a270f7cec6f26717ab60521412
https://pubmed.ncbi.nlm.nih.gov/29595813
https://pubmed.ncbi.nlm.nih.gov/29595813
Autor:
Gemma Jenkins, Louise Christie, Carolyn Rogers, Bruce Bennetts, Jackie Boyle, Veronica Wiley, Michael Field, Bridget Wilcken, Tiffany Wotton
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 1, p 9 (2018)
International Journal of Neonatal Screening; Volume 4; Issue 1; Pages: 9
International Journal of Neonatal Screening
International Journal of Neonatal Screening; Volume 4; Issue 1; Pages: 9
International Journal of Neonatal Screening
Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess the feasibility and reliability of population screening fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ac6aff5044a47c436bb2f3b6ffc2104
https://doi.org/10.3390/ijns4010009
https://doi.org/10.3390/ijns4010009