Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Gabriel, Dabscheck"'
Autor:
Navdeep Kaur, Catherine Lewis, Sandra Staffieri, Jonathan Ruddle, Ilias Goranitis, Jay Stiles, Gabriel Dabscheck
Publikováno v:
British and Irish Orthoptic Journal, Vol 19, Pp 26–34-26–34 (2023)
Purpose: To conduct a costing study comparing orthoptist-led with consultant-led clinics screening for optic pathway gliomas (OPGs) in children with neurofibromatosis Type 1 (NF1) attending the Royal Children’s Hospital (RCH), Melbourne. Methods: P
Externí odkaz:
https://doaj.org/article/4a75edf05c444c2f8238bbc64701695f
Autor:
Anita K. Chisholm, Kristina M. Haebich, Natalie A. Pride, Karin S. Walsh, Francesca Lami, Alex Ure, Tiba Maloof, Amanda Brignell, Melissa Rouel, Yael Granader, Alice Maier, Belinda Barton, Hayley Darke, Gabriel Dabscheck, Vicki A. Anderson, Katrina Williams, Kathryn N. North, Jonathan M. Payne
Publikováno v:
Molecular Autism, Vol 13, Iss 1, Pp 1-17 (2022)
Abstract Background Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To
Externí odkaz:
https://doaj.org/article/17d84eaaf919467896a6e3156f7eb969
Autor:
Anita L. Dharan, Stephen C. Bowden, Andre Peterson, Alan Lai, Udaya Seneviratne, Gabriel Dabscheck, Ewan Nurse, Amy Loughman, Nicholas Parsons, Wendyl J. D'Souza
Publikováno v:
Epilepsia. 64:742-753
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6bddb81b66aa061563634782f9b25e7
https://doi.org/10.1111/epi.17505
https://doi.org/10.1111/epi.17505
Autor:
Gary Rance, Alice Maier, Julien Zanin, Kristina M. Haebich, Kathryn N. North, Francesca Orsini, Gabriel Dabscheck, Martin B. Delatycki, Jonathan M. Payne
Publikováno v:
Neurological Sciences. 43:5637-5641
Background A high proportion of patients with neurofibromatosis type 1 (NF1) present with functional hearing deficiency as a result of neural abnormality in the late auditory brainstem. Methods In this randomized, two-period crossover study, we inves
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dfb47ebd23fa7b0caf74b02c7b253a68
https://doi.org/10.1007/s10072-022-06203-8
https://doi.org/10.1007/s10072-022-06203-8
Autor:
Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J. Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K. Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F. Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, Angela T. Morgan
Publikováno v:
Molecular Psychiatry, 28, 4, pp. 1664-1666
Molecular Psychiatry, 28, 1664-1666
Molecular Psychiatry, 28, 1664-1666
Contains fulltext : 293730.pdf (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::059b5e06128141f777393c091ff9582e
Autor:
Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J. Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K. Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F. Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, Angela T. Morgan
Publikováno v:
Molecular Psychiatry, 28, 4, pp. 1647-1663
Molecular Psychiatry. Advance online publication
Molecular Psychiatry, 28, 1647-1663
Molecular Psychiatry. Advance online publication
Molecular Psychiatry, 28, 1647-1663
Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and planning deficits. Genetic factors make substantive contributions to CAS aetiology, with a monogenic pathogenic variant iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba7abf5251637179712ca43b933ec76d
Autor:
Kate Drummond, Andrew P. Morokoff, Gabriel Dabscheck, Jonathan Pesic-Smith, Jordan Jones, Sarah A. Cain, Peter F. M. Choong
Publikováno v:
Journal of Neuro-Oncology. 154:265-274
The leading cause of early death in patients with neurofibromatosis type 1 (NF1) is malignant peripheral nerve sheath tumor (MPNST). The principles of management include early diagnosis, surgical clearance and close monitoring for tumor recurrence. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e9028155467557e21cf8ac6c4c71ad6e
https://doi.org/10.1007/s11060-021-03846-z
https://doi.org/10.1007/s11060-021-03846-z
Autor:
Anita K, Chisholm, Francesca, Lami, Kristina M, Haebich, Alex, Ure, Amanda, Brignell, Tiba, Maloof, Natalie A, Pride, Karin S, Walsh, Alice, Maier, Melissa, Rouel, Yael, Granader, Belinda, Barton, Hayley, Darke, Ian, Fuelscher, Gabriel, Dabscheck, Vicki A, Anderson, Katrina, Williams, Kathryn N, North, Jonathan M, Payne
Publikováno v:
Journal of autism and developmental disorders.
This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ≥ 60). Thirty-four males and 28
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3cfcbe31ec3889e5aa09b6b844a16b68
https://pubmed.ncbi.nlm.nih.gov/35445370
https://pubmed.ncbi.nlm.nih.gov/35445370
Autor:
Anita K. Chisholm, Francesca Lami, Kristina M. Haebich, Alex Ure, Amanda Brignell, Tiba Maloof, Natalie A. Pride, Karin S. Walsh, Alice Maier, Melissa Rouel, Yael Granader, Belinda Barton, Hayley Darke, Ian Fuelscher, Gabriel Dabscheck, Vicki A. Anderson, Katrina Williams, Kathryn N. North, Jonathan M. Payne
This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ≥ 60). Thirty-four males and 28
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbd53242920ca1eac0612b56ac1651b7
https://acuresearchbank.acu.edu.au/item/8ywv4/sex-and-age-related-differences-in-autistic-behaviours-in-children-with-neurofibromatosis-type-1
https://acuresearchbank.acu.edu.au/item/8ywv4/sex-and-age-related-differences-in-autistic-behaviours-in-children-with-neurofibromatosis-type-1
Autor:
Gary Rance, Julien Zanin, Alice Maier, Donella Chisari, Kristina M. Haebich, Kathryn N. North, Gabriel Dabscheck, Marc L. Seal, Martin B. Delatycki, Jonathan M. Payne
Publikováno v:
JAMA Network Open
Key Points Question Is neurofibromatosis type 1 (NF1) associated with auditory neural dysfunction and functional hearing consequences? Findings In this case-control study of 44 individuals with NF1 and 44 matched control participants, 1 in 4 particip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83663f5e5f37af1add3484be4ada1791
https://pubmed.ncbi.nlm.nih.gov/34870681
https://pubmed.ncbi.nlm.nih.gov/34870681