Louise Wilson

Louise Wilson

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Louise Wilson

Louise Wilson

Publications by authors named "Louise Wilson"

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Juvenile Paget's disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype.

Bone 2020 Jan 23;130:115098. Epub 2019 Oct 23.

Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115098DOI Listing
January 2020

The impact of reducing alcohol consumption in Australia: An estimate of the proportion of potentially avoidable cancers 2013-2037.

Int J Cancer 2019 12 25;145(11):2944-2953. Epub 2019 Feb 25.

Population Health Department, QIMR Berghofer Medical Research Institute, Herston, QLD, Australia.

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http://dx.doi.org/10.1002/ijc.32204DOI Listing
December 2019

A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.

Clin Dysmorphol 2019 Oct;28(4):219-223

Departments of Clinical Genetics.

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http://dx.doi.org/10.1097/MCD.0000000000000291DOI Listing
October 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.

Am J Med Genet A 2019 07 15;179(7):1346-1350. Epub 2019 May 15.

Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.61169DOI Listing
July 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

J Clin Endocrinol Metab 2019 04;104(4):1079-1089

Department for Pediatric Endocrinology and Diabetology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.

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http://dx.doi.org/10.1210/jc.2018-01250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380466PMC
April 2019

Syndromic Craniosynostosis: Complexities of Clinical Care.

Mol Syndromol 2019 Feb 16;10(1-2):83-97. Epub 2019 Jan 16.

Great Ormond Street Craniofacial Unit, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital for Children NHS Trust, London, UK.

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http://dx.doi.org/10.1159/000495739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422147PMC
February 2019

Sun protection behavior after diagnosis of high-risk primary melanoma and risk of a subsequent primary.

J Am Acad Dermatol 2019 Jan;80(1):139-148.e4

Population Health Department, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia; CRUK Manchester and Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.jaad.2018.06.068DOI Listing
January 2019

Hysterectomy status and all-cause mortality in a 21-year Australian population-based cohort study.

Am J Obstet Gynecol 2019 01 9;220(1):83.e1-83.e11. Epub 2018 Oct 9.

Center for Longitudinal and Life Course Research, School of Public Health, University of Queensland, Brisbane, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00029378183087
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http://dx.doi.org/10.1016/j.ajog.2018.10.002DOI Listing
January 2019

Hysterectomy and perceived physical function in middle-aged Australian women: a 20-year population-based prospective cohort study.

Qual Life Res 2018 06 15;27(6):1501-1511. Epub 2018 Feb 15.

School of Public Health, Centre for Longitudinal and Life Course Research, The University of Queensland, Public Health Building, Herston Road, Herston, QLD, 4006, Australia.

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http://dx.doi.org/10.1007/s11136-018-1812-9DOI Listing
June 2018

How many cancer cases and deaths are potentially preventable? Estimates for Australia in 2013.

Int J Cancer 2018 02 26;142(4):691-701. Epub 2017 Oct 26.

Population Health Department, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD, Australia.

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http://dx.doi.org/10.1002/ijc.31088DOI Listing
February 2018

Hysterectomy trends in Australia, 2000-2001 to 2013-2014: joinpoint regression analysis.

Acta Obstet Gynecol Scand 2017 Oct 18;96(10):1170-1179. Epub 2017 Jul 18.

Centre for Longitudinal and Life Course Research, School of Public Health, University of Queensland, Herston, QLD, Australia.

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http://dx.doi.org/10.1111/aogs.13182DOI Listing
October 2017

Vitamin D deficiency as a public health issue: using vitamin D2 or vitamin D3 in future fortification strategies.

Proc Nutr Soc 2017 08 28;76(3):392-399. Epub 2017 Mar 28.

Department of Nutritional Sciences,University of Surrey,Guildford GU1 7XH,UK.

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http://dx.doi.org/10.1017/S0029665117000349DOI Listing
August 2017

Prevention of DNA damage in human skin by topical sunscreens.

Photodermatol Photoimmunol Photomed 2017 May 2;33(3):135-142. Epub 2017 Mar 2.

Population Health Department, QIMR Berghofer Medical Research Institute, Herston, Qld, Australia.

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http://doi.wiley.com/10.1111/phpp.12298
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http://dx.doi.org/10.1111/phpp.12298DOI Listing
May 2017

The fractions of cancer attributable to modifiable factors: A global review.

Cancer Epidemiol 2016 10 25;44:203-221. Epub 2016 Jul 25.

QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia.

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http://dx.doi.org/10.1016/j.canep.2016.06.013DOI Listing
October 2016

Hot flushes and night sweats symptom profiles over a 17-year period in mid-aged women: The role of hysterectomy with ovarian conservation.

Maturitas 2016 Sep 24;91:1-7. Epub 2016 May 24.

The University of Queensland, Centre for Longitudinal and Life Course Research, School of Public Health, Public Health Building, Herston Road, Herston, QLD 4006, Australia.

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http://dx.doi.org/10.1016/j.maturitas.2016.05.011DOI Listing
September 2016

Age at Menarche, Level of Education, Parity and the Risk of Hysterectomy: A Systematic Review and Meta-Analyses of Population-Based Observational Studies.

PLoS One 2016 10;11(3):e0151398. Epub 2016 Mar 10.

The University of Queensland, Centre for Longitudinal and Life Course Research, School of Public Health, Public Health Building, Herston Road, Herston, Queensland, 4006, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151398PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4786144PMC
August 2016

Association of mutations in FLNA with craniosynostosis.

Eur J Hum Genet 2015 Dec 15;23(12):1684-8. Epub 2015 Apr 15.

Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2015.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519681PMC
December 2015

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.

Am J Med Genet A 2015 Dec 3;167A(12):3153-60. Epub 2015 Sep 3.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, Hampshire, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37336DOI Listing
December 2015

Cancers in Australia in 2010 attributable to infectious agents.

Aust N Z J Public Health 2015 Oct;39(5):446-51

QIMR Berghofer Medical Research Institute, Queensland.

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http://dx.doi.org/10.1111/1753-6405.12445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4606775PMC
October 2015

Cancers in Australia in 2010 attributable to tobacco smoke.

Aust N Z J Public Health 2015 Oct;39(5):464-70

QIMR Berghofer Medical Research Institute, Queensland.

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http://dx.doi.org/10.1111/1753-6405.12446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4606760PMC
October 2015

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Am J Med Genet A 2015 Jun 21;167(6):1215-22. Epub 2015 Apr 21.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37044DOI Listing
June 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Population attributable risk of modifiable risk factors associated with invasive breast cancer in women aged 45-69 years in Queensland, Australia.

Maturitas 2013 Dec 12;76(4):370-6. Epub 2013 Sep 12.

School of Population Health, University of Queensland, Public Health Building, Herston Road, Herston, QLD 4006, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.maturitas.2013.09.002DOI Listing
December 2013

Vascular function and glucose variability improve transiently following initiation of continuous subcutaneous insulin infusion in children with type 1 diabetes.

Pediatr Diabetes 2013 Nov 9;14(7):504-11. Epub 2013 May 9.

Endocrinology and Diabetes Department, The University of Adelaide, SA, Australia.

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http://dx.doi.org/10.1111/pedi.12050DOI Listing
November 2013

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.

Am J Med Genet A 2013 Sep 2;161A(9):2339-46. Epub 2013 Aug 2.

Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36066DOI Listing
September 2013

Variation in the effects of three different breakfast meals on subjective satiety and subsequent intake of energy at lunch and evening meal.

Eur J Nutr 2013 Jun 5;52(4):1353-9. Epub 2012 Sep 5.

Department of Nutrition and Metabolism, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, UK.

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http://link.springer.com/content/pdf/10.1007%2Fs00394-012-04
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http://link.springer.com/10.1007/s00394-012-0444-z
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http://dx.doi.org/10.1007/s00394-012-0444-zDOI Listing
June 2013

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

J Med Genet 2012 Jan;49(1):21-6

Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100378DOI Listing
January 2012

Attenuating memory distrust in a repeated checking task.

Behav Res Ther 2011 Aug 11;49(8):466-71. Epub 2011 May 11.

School of Psychology and Griffith Health Institute, Griffith University, Southport, Australia.

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http://dx.doi.org/10.1016/j.brat.2011.05.001DOI Listing
August 2011

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Am J Med Genet A 2011 Jun 12;155A(6):1414-8. Epub 2011 May 12.

Sheffield Clinical Genetics Services, Sheffield Children's NHS Foundation Trust, UK.

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http://dx.doi.org/10.1002/ajmg.a.33998DOI Listing
June 2011

Intramedullary spinal cord metastases in breast cancer are associated with improved longer-term systemic control.

Future Oncol 2010 Sep;6(9):1517-9

Imperial College Healthcare NHS Trust, Charing Cross Hospital, Fulham Palace Road, London, UK.

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http://dx.doi.org/10.2217/fon.10.118DOI Listing
September 2010

Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.

Pediatr Diabetes 2009 May 22;10(3):193-7. Epub 2008 Oct 22.

Department of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/j.1399-5448.2008.00470.xDOI Listing
May 2009

Elements of morphology: standard terminology for the ear.

Am J Med Genet A 2009 Jan;149A(1):40-60

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32599DOI Listing
January 2009

Improving neonatal outcome through practical shoulder dystocia training.

Obstet Gynecol 2008 Jul;112(1):14-20

Department of Obstetrics and Gynaecology, North Bristol NHS Trust, Southmead Hospital, Bristol, UK.

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http://dx.doi.org/10.1097/AOG.0b013e31817bbc61DOI Listing
July 2008

Immunological abnormalities in CHARGE syndrome.

Eur J Med Genet 2007 Sep-Oct;50(5):338-45. Epub 2007 May 27.

Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1016/j.ejmg.2007.05.002DOI Listing
November 2007

Adolescents' attitudes about obesity and what they want in obesity prevention programs.

Authors:
Louise F Wilson

J Sch Nurs 2007 Aug;23(4):229-38

Beaver Dam Unified School District, Beaver Dam, WI, USA.

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http://dx.doi.org/10.1177/10598405070230040801DOI Listing
August 2007

Cranio-osteoarthropathy in sibs.

Clin Dysmorphol 2007 Jul;16(3):197-201

Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32801470d8DOI Listing
July 2007

Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.

Am J Med Genet A 2006 Dec;140(23):2625-30

Clinical & Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.31374
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http://dx.doi.org/10.1002/ajmg.a.31374DOI Listing
December 2006

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.

Eur J Med Genet 2006 Sep-Oct;49(5):396-401. Epub 2006 Feb 9.

School of Medicine, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1016/j.ejmg.2006.01.004DOI Listing
November 2006

Albright's hereditary osteodystrophy.

Authors:
Louise C Wilson

J Pediatr Endocrinol Metab 2006 May;19 Suppl 2:671-3

Clinical & Molecular Genetics Unit, Great Ormond Street Hospital and Institute of Child Health, London, UK.

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http://dx.doi.org/10.1515/jpem.2006.19.s2.671DOI Listing
May 2006