Publications by authors named "Janine Smith"

58Publications

Current Practice of Genetic Testing and Counselling in Congenital Heart Disease: An Australian Perspective.

Heart Lung Circ 2020 Aug 29. Epub 2020 Aug 29.

Heart Centre for Children, The Children's Hospital at Westmead, Sydney, NSW, Australia; Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hlc.2020.07.013DOI Listing
August 2020

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

N Engl J Med 2017 08;377(6):544-552

From the Divisions of Developmental and Stem Cell Biology (H.S., A.E., M.R., E.M.M.A.M., R.W., J.M., J.O.S., E.I., K.S., J.H., K.K., G.C., D.B.S., S.L.D.), Vascular Biology (G.J.M., R.S.), and Molecular, Structural, and Computational Biology (D.T.H., J.W.K.H., E.G.), Victor Chang Cardiac Research Institute, the Faculties of Medicine and Science, University of New South Wales (H.S., A.E., J.O.S., E.I., D.T.H., G.J.M., J.W.K.H., K.K., R.S., E.G., G.C., D.B.S., S.L.D.), Liverpool Hospital, Department of Clinical Genetics (A.E., A.C.), the Department of Clinical Genetics (A.E., J.S., F.C., D.O.S.) and the Heart Centre for Children (D.S.W.), Children's Hospital at Westmead, the Discipline of Genetic Medicine (A.E., J.S., F.C., D.O.S.) and the Medical School (D.S.W.), University of Sydney, and the Faculty of Medicine and Health Sciences, Macquarie University (C.K.L., G.J.G.) - all in Sydney, the School of Biological Sciences, University of Adelaide, Adelaide, SA (J.N.H., P.Q.T.), and the Institute of Health and Biomedical Innovation, Queensland University of Technology (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Translational Research Institute (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Department of Endocrinology, Royal Brisbane and Women's Hospital (E.L.D.), and the University of Queensland School of Medicine (E.L.D.), Brisbane - all in Australia; and Spectrum Health Medical Group, Medical Genetics, Grand Rapids, MI (P.R.M.).

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http://dx.doi.org/10.1056/NEJMoa1616361DOI Listing
August 2017

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Genome Biol 2016 11 29;17(1):243. Epub 2016 Nov 29.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1186/s13059-016-1105-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126855PMC
November 2016

Role of human herpes virus 6 in corneal inflammation alone or with human herpesviruses.

Cornea 2011 Feb;30(2):204-7

Department of Microbiology, Hyogo College of Medicine, Hyogo, Japan.

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http://dx.doi.org/10.1097/ICO.0b013e3181e2e9beDOI Listing
February 2011

Epidemiology and course of disease in childhood uveitis.

Ophthalmology 2009 Aug;116(8):1544-51, 1551.e1

National Eye Institute, National Institutes of Health/Department of Health and Human Services, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.ophtha.2009.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2937251PMC
August 2009

Corneal verticillata after dual anti-epidermal growth factor receptor and anti-vascular endothelial growth factor receptor 2 therapy (vandetanib) for anaplastic astrocytoma.

Cornea 2009 Jul;28(6):699-702

National Eye Institute and daggerNational Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1097/ICO.0b013e3181922146DOI Listing
July 2009

Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.

J Surg Res 2009 Nov 4;157(1):55-62. Epub 2008 Sep 4.

Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Australia.

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http://dx.doi.org/10.1016/j.jss.2008.07.043DOI Listing
November 2009

Management of acute hydrops with perforation in a patient with keratoconus and cone dystrophy: case report and literature review.

Cornea 2008 Oct;27(9):1062-5

Division of Epidemiology and Clinical Research, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1097/ICO.0b013e31817618c2DOI Listing
October 2008

Menisci and fullness of the blink in dry eye.

Optom Vis Sci 2008 Aug;85(8):706-14

Indiana University School of Optometry, Bloomington, Indiana, USA.

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http://dx.doi.org/10.1097/OPX.0b013e318181ae02DOI Listing
August 2008

Current patterns in the use of diagnostic tests in dry eye evaluation.

Cornea 2008 Jul;27(6):656-62

National Eye Institute/NIH/DHHS, Bethesda, MD, USA.

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http://dx.doi.org/10.1097/QAI.0b013e3181605b95DOI Listing
July 2008

Recruitment and manpower in pediatric ophthalmology and strabismus.

J AAPOS 2007 Aug;11(4):336-40

Lions Eye Institute, Albany Medical College, Albany, New York 12159, USA.

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http://dx.doi.org/10.1016/j.jaapos.2007.04.004DOI Listing
August 2007

Toward optimal health: Janine A. Smith, M.D., discusses vision impairment in women: interviewed by Jodi Godfrey.

Authors:
Janine A Smith

J Womens Health (Larchmt) 2007 Apr;16(3):293-8

National Eye Institute, National Institutes of Health, USA.

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http://dx.doi.org/10.1089/jwh.2007.C073DOI Listing
April 2007

Effects of topical anti-inflammatory agents in a botulinum toxin B-induced mouse model of keratoconjunctivitis sicca.

J Ocul Pharmacol Ther 2007 Feb;23(1):27-34

Wilmer Ophthalmological Institute, Johns Hopkins University, Baltimore, MD 21286-9278, USA.

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http://dx.doi.org/10.1089/jop.2006.0071DOI Listing
February 2007

Hypergammaglobulinemia and corneal opacities in patients with human T-cell lymphotrophic virus type-1.

Am J Ophthalmol 2006 Dec 31;142(6):1088-9. Epub 2006 Aug 31.

Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1016/j.ajo.2006.07.028DOI Listing
December 2006

Inhibition of inflammatory cytokine production in human corneal cells by dexamethasone, but not cyclosporin.

Cornea 2006 Jul;25(6):709-14

Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1097/01.ico.0000208815.02120.90DOI Listing
July 2006

Diagnosis and treatment of vasculitis of the central nervous system in a patient with systemic lupus erythematosus.

Nat Clin Pract Rheumatol 2006 Nov;2(11):627-33; quiz 634

National Institute of Dental and Craniofacial Research, Gene Therapy and Therapeutics Branch, NIH, Bethesda, MD 20892, USA.

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http://www.nature.com/doifinder/10.1038/ncprheum0337
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http://dx.doi.org/10.1038/ncprheum0337DOI Listing
November 2006

Sensorineural hearing loss in Vogt-Koyanagi-Harada syndrome.

Laryngoscope 2006 Oct;116(10):1873-6

Department of Otolaryngology, University of Minnesota, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1097/01.mlg.0000234946.31603.feDOI Listing
October 2006

Microarray and protein analysis of human pterygium.

Mol Vis 2006 Jan 23;12:55-64. Epub 2006 Jan 23.

National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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January 2006

Erlotinib: small-molecule targeted therapy in the treatment of non-small-cell lung cancer.

Authors:
Janine Smith

Clin Ther 2005 Oct;27(10):1513-34

Ernest Mario School of Pharmacy, Rutgers, The State University of New Jersey, Piscataway, 08852, USA.

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http://dx.doi.org/10.1016/j.clinthera.2005.10.014DOI Listing
October 2005

Management of chronic pediatric uveitis.

Curr Opin Ophthalmol 2005 Oct;16(5):281-8

Laboratory of Immunology and Division of Clinical Research and Epidemiology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1097/01.icu.0000177414.79030.32DOI Listing
October 2005

X-linked anhidrotic ectodermal dysplasia disruption yields a mouse model for ocular surface disease and resultant blindness.

Am J Pathol 2005 Jul;167(1):89-95

Laboratory of Genetics, National Institute on Aging, National Institutes of Health, Baltimore, Maryland, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1603450PMC
http://dx.doi.org/10.1016/S0002-9440(10)62956-2DOI Listing
July 2005

Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.

Pediatrics 2005 Jun;115(6):e737-8

Royal North Shore Hospital, St Leonards, New South Wales, Australia.

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http://dx.doi.org/10.1542/peds.2004-1910DOI Listing
June 2005

Three patients with terminal deletions within the subtelomeric region of chromosome 9q.

Am J Med Genet A 2005 Feb;132A(4):425-30

Department of Clinical Genetics, The Children's Hospital at Westmead, New South Wales, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.30496
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http://dx.doi.org/10.1002/ajmg.a.30496DOI Listing
February 2005

Outcome measures for Sjögren's syndrome, April 10-11, 2003, Bethesda, Maryland, USA.

J Rheumatol 2005 Jan;32(1):143-9

Gene Therapy and Therapeutics Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.

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January 2005

The expanding phenotype of cystic fibrosis.

Med J Aust 2004 Nov;181(9):514

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November 2004

Diagnosis of Proteus syndrome was correct.

Am J Med Genet A 2004 Oct;130A(2):214-5; author reply 216-7

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http://doi.wiley.com/10.1002/ajmg.a.30337
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http://dx.doi.org/10.1002/ajmg.a.30337DOI Listing
October 2004

The ocular complications of smallpox and smallpox immunization.

Arch Ophthalmol 2004 Sep;122(9):1407; author reply 1407-8

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http://dx.doi.org/10.1001/archopht.122.9.1407-aDOI Listing
September 2004

Comparison of the NEI-VFQ and OSDI questionnaires in patients with Sjögren's syndrome-related dry eye.

Health Qual Life Outcomes 2004 Sep 1;2:44. Epub 2004 Sep 1.

Division of Epidemiology and Clinical Research, National Eye Institute, Building 31, room 6A52, 31 Center Drive, MSC 2510, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1186/1477-7525-2-44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC517949PMC
September 2004

Pilot clinical trial of dehydroepiandrosterone (DHEA) versus placebo for Sjögren's syndrome.

Arthritis Rheum 2004 Aug;51(4):601-4

National Institute of Dental and Craniofacial Research, Bethesda, Maryland 28092, USA.

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http://dx.doi.org/10.1002/art.20540DOI Listing
August 2004

Dry eye signs and symptoms in women with premature ovarian failure.

Arch Ophthalmol 2004 Feb;122(2):151-6

Division of Epidemiology and Clinical Research, National Eye Institute, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1863, USA.

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http://dx.doi.org/10.1001/archopht.122.2.151DOI Listing
February 2004

Grading of corneal and conjunctival staining in the context of other dry eye tests.

Cornea 2003 Oct;22(7):640-50

Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, UK.

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http://pdfs.journals.lww.com/corneajrnl/2003/10000/Grading_O
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http://dx.doi.org/10.1097/00003226-200310000-00008DOI Listing
October 2003

Tarsal-conjunctival disease associated with Wegener's granulomatosis.

Ophthalmology 2003 Sep;110(9):1770-80

National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/S0161-6420(03)00616-XDOI Listing
September 2003

Association of clinical diagnostic tests and dry eye surveys: the NEI-VFQ-25 and the OSDI.

Adv Exp Med Biol 2002 ;506(Pt B):1177-81

The Ohio State University College of Optometry, Columbus, Ohio, USA

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http://dx.doi.org/10.1007/978-1-4615-0717-8_166DOI Listing
May 2003

Immunopathogenesis of conjunctival histopathologic alteration in non-Sjögren's keratoconjunctivitis sicca.

Adv Exp Med Biol 2002 ;506(Pt B):801-3

Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1007/978-1-4615-0717-8_113DOI Listing
May 2003

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35.

Hum Genet 2003 May 27;112(5-6):593-9. Epub 2003 Feb 27.

Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, Maryland 20892-1860, USA.

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http://dx.doi.org/10.1007/s00439-002-0905-1DOI Listing
May 2003

Conjunctival T-cell subpopulations in Sjögren's and non-Sjögren's patients with dry eye.

Invest Ophthalmol Vis Sci 2002 Aug;43(8):2609-14

llergan, Inc., Irvine, California 92612, USA.

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August 2002

Auckland paediatric liver transplant experience 1990-2000.

N Z Med J 2002 May;115(1154):244-5

Department of Gastroenterology, Starship Hospital, Auckland.

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May 2002

Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.

Ophthalmology 2002 Mar;109(3):588-94

National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1857, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/s0161-6420(01)00968-xDOI Listing
March 2002

Conjunctival papillomas caused by human papillomavirus type 33.

Arch Ophthalmol 2002 Feb;120(2):202-4

National Eye Institute, National Institutes of Health, Bethesda, MD 20892-1857, USA.

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http://dx.doi.org/10.1001/archopht.120.2.202DOI Listing
February 2002