Publications by authors named "Alan Ma"

21Publications

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Neurology 2020 05 28;94(20):e2148-e2167. Epub 2020 Apr 28.

From the Department of Medicine (M.S.H., M.C., K.A.R., I.E.S.), The University of Melbourne, Austin Health, Heidelberg; Population Health and Immunity Division (V.E.J., T.S.S., M.B.), The Walter and Eliza Hall Institute of Medical Research; Departments of Medical Biology (V.E.J., T.S.S., M.B.) and Audiology and Speech Pathology (R.O.B., A.T.M.) and Department of Paediatrics, The Royal Children's Hospital (B.P.-F., G.P., M.H., D.J.A., I.E.S.), The University of Melbourne; Speech and Language (O.V.R., R.O.B., S.T., S.B., S.R., A.T.M.), Murdoch Children's Research Institute (M.S.H., D.J.A., I.E.S.); Victorian Clinical Genetics Services (A. Boys, M.D.), Parkville, Victoria; Department of Neurology (R.W.) and Clinical Genetics (A.M.), The Children's Hospital Westmead; Department of Paediatrics (M.F., K.S.), Monash University; Monash Children's Hospital (K.S.), Clayton, Victoria; The Wesley Hospital (D.C.), Auchenflower, Queensland; Hunter Genetics (H.G., A. Baxter), John Hunter Hospital, New Lambton Heights; Melbourne Children's Clinic (N.D.), Victoria; Griffith University (S.R.), Mount Gravatt, Queensland, Australia; UCL Great Ormond Street Institute of Child Health (F.J.L.), London, UK; Florey Institute of Neuroscience and Mental Health (A.C., I.E.S.), Parkville, Victoria; South Australian Health and Medical Research Institute (J.G.), Robinson Research Institute and Adelaide Medical School, University of Adelaide, South Australia; Language and Genetics Department (S.E.F.), Max Planck Institute for Psycholinguistics; and Donders Institute for Brain, Cognition and Behaviour (S.E.F.), Radboud University, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000009441DOI Listing
May 2020

Vaccination management in an asymptomatic child with a novel SCN1A variant and family history of status epilepticus following vaccination: A case report on a potential new direction in personalised medicine.

Seizure 2020 May 16;78:49-52. Epub 2020 Mar 16.

The University of Sydney Children's Hospital Westmead Clinical School, Sydney, Australia; Department of Neurology and Neurosurgery, Children's Hospital Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.seizure.2020.03.005DOI Listing
May 2020

Isotretinoin's action against cisplatin-induced ototoxicity in rats.

Pak J Pharm Sci 2018 Nov;31(6 (Supplementary):2579-2584

Department of Otorhinolaryngology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.

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November 2018

Melatonin prevents possible radiotherapy-induced thyroid injury.

Int J Radiat Biol 2017 12 20;93(12):1350-1356. Epub 2017 Nov 20.

e Department of Medical Biochemistry , Meram Faculty of Medicine, Necmettin Erbakan University , Konya , Turkey.

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http://dx.doi.org/10.1080/09553002.2017.1397296DOI Listing
December 2017

Multilayered Closure of Cerebrospinal Fluid Rhinorrhea with Inlay Fascia Lata, Autologous Fat, and Outlay Fascia Lata: Our Experience.

ORL J Otorhinolaryngol Relat Spec 2016 16;78(5):289-295. Epub 2016 Nov 16.

Department of Otorhinolaryngology, Head and Neck Surgery, Necmettin Erbakan University, Konya, Turkey.

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http://dx.doi.org/10.1159/000451002DOI Listing
October 2017

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

Eur J Hum Genet 2016 08 27;24(8):1216-9. Epub 2016 Jan 27.

Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970689PMC
August 2016

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Hum Mutat 2016 Apr 14;37(4):371-84. Epub 2016 Jan 14.

Eye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/humu.22948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4787201PMC
April 2016

The Immune Phenotype of Patients with CHARGE Syndrome.

J Allergy Clin Immunol Pract 2016 Jan-Feb;4(1):96-103.e2. Epub 2015 Nov 7.

Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.jaip.2015.09.004DOI Listing
October 2016

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

Hum Mol Genet 2015 Oct 30;24(20):5789-804. Epub 2015 Jul 30.

Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia,

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http://dx.doi.org/10.1093/hmg/ddv298DOI Listing
October 2015

CHARGE syndrome: a review.

J Paediatr Child Health 2014 Jul 19;50(7):504-11. Epub 2014 Feb 19.

Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.12497DOI Listing
July 2014