Alastair H MacLennan

Alastair H MacLennan

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Alastair H MacLennan

Alastair H MacLennan

Publications by authors named "Alastair H MacLennan"

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

Transl Psychiatry 2018 04 23;8(1):88. Epub 2018 Apr 23.

Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1038/s41398-018-0136-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911435PMC
April 2018

Cerebral palsy and genomics: an international consortium.

Dev Med Child Neurol 2018 02;60(2):209-210

The Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/dmcn.13643DOI Listing
February 2018

The genetic basis of cerebral palsy.

Dev Med Child Neurol 2017 05 1;59(5):462-469. Epub 2017 Jan 1.

Departments of Child Health, Neurology and Genetics, University of Arizona, College of Medicine, Phoenix, AZ, USA.

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http://dx.doi.org/10.1111/dmcn.13363DOI Listing
May 2017

Cerebral palsy: causes, pathways, and the role of genetic variants.

Am J Obstet Gynecol 2015 Dec 21;213(6):779-88. Epub 2015 May 21.

Neurogenetics Research Program, School of Pediatrics and Reproductive Health, the University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.1016/j.ajog.2015.05.034DOI Listing
December 2015

Single-nucleotide polymorphism associations with preterm delivery: a case-control replication study and meta-analysis.

Pediatr Res 2013 Oct 8;74(4):433-8. Epub 2013 Jul 8.

Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health, Robinson Institute, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/pr.2013.117DOI Listing
October 2013

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

Eur J Med Genet 2013 Sep 30;56(9):506-9. Epub 2013 Jul 30.

The Robinson Institute, The University of Adelaide, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.07.003DOI Listing
September 2013

Genetic and clinical contributions to cerebral palsy: a multi-variable analysis.

J Paediatr Child Health 2013 Jul 11;49(7):575-81. Epub 2013 Jun 11.

Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health, Robinson Institute, Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1111/jpc.12279DOI Listing
July 2013

Brain damage and maternal medication.

Am J Obstet Gynecol 2013 Feb 19;208(2):160-1. Epub 2012 Nov 19.

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http://dx.doi.org/10.1016/j.ajog.2012.11.022DOI Listing
February 2013

A 'no-fault' cerebral palsy pension scheme would benefit all Australians.

Aust N Z J Obstet Gynaecol 2011 Dec 21;51(6):479-84. Epub 2011 Oct 21.

Discipline of Obstetrics and Gynaecology, The University of Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1479-828X.2011.01370.xDOI Listing
December 2011

Epidemiologic associations with cerebral palsy.

Obstet Gynecol 2011 Sep;118(3):576-82

Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health, Robinson Institute, The University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1097/AOG.0b013e31822ad2dcDOI Listing
September 2011

Fetal MBL2 haplotypes combined with viral exposure are associated with adverse pregnancy outcomes.

J Matern Fetal Neonatal Med 2011 Jun 21;24(6):847-54. Epub 2010 Dec 21.

The University of Adelaide, Women’sand Children's Hospital, Adelaide, South Australia.

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http://dx.doi.org/10.3109/14767058.2010.531324DOI Listing
June 2011

Comparison of DNA extraction methods from small samples of newborn screening cards suitable for retrospective perinatal viral research.

J Biomol Tech 2011 Apr;22(1):5-9

Women’s and Children’s Hospital, Discipline of Obstetrics and Gynaecology, 1st Floor, Queen Victoria Bldg., 72 King William Rd., North Adelaide, SA 5006, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059536PMC
April 2011

The Australian cerebral palsy research study--protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy.

J Paediatr Child Health 2011 Mar 21;47(3):99-110. Epub 2010 Nov 21.

Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health, Robinson Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2010.01896.xDOI Listing
March 2011

Gathering the evidence: cord gases and placental histology for births with low Apgar scores.

Aust N Z J Obstet Gynaecol 2011 Feb;51(1):17-21

Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1479-828X.2010.01275.xDOI Listing
February 2011

DNA from buccal swabs suitable for high-throughput SNP multiplex analysis.

J Biomol Tech 2009 Dec;20(5):232-5

The University of Adelaide, Disciplines of Obstetrics and Gynaecology, Women's and Children's Hospital, Adelaide, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777348PMC
December 2009

Hormone therapy use and risk of ovarian cancer.

JAMA 2009 Nov;302(20):2203; author reply 2204

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http://dx.doi.org/10.1001/jama.2009.1724DOI Listing
November 2009

Evidence-based review of therapies at the menopause.

Int J Evid Based Healthc 2009 Jun;7(2):112-23

Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Medicine, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1744-1609.2009.00133.xDOI Listing
June 2009

Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population.

Hum Genet 2008 Nov 23;124(4):411-6. Epub 2008 Sep 23.

Discipline of Obstetrics and Gynaecology, Women's and Children's Hospital, The University of Adelaide, 1st Floor Queen Victoria Building, 72 King William Road, Adelaide, SA, 5006, Australia.

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http://dx.doi.org/10.1007/s00439-008-0564-yDOI Listing
November 2008

Candidate genes and cerebral palsy: a population-based study.

Pediatrics 2008 Nov;122(5):1079-85

Schools of aPaediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.1542/peds.2007-3758DOI Listing
November 2008

Mannose-binding lectin haplotypes may be associated with cerebral palsy only after perinatal viral exposure.

Am J Obstet Gynecol 2008 May;198(5):509.e1-8

Discipline of Obstetrics and Gynecology, The University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1016/j.ajog.2008.02.027DOI Listing
May 2008

Seminars may increase recruitment to randomised controlled trials: lessons learned from WISDOM.

Trials 2008 Jan 29;9. Epub 2008 Jan 29.

Department of Obstetrics & Gynaecology, University of Adelaide, Adelaide 5005, Australia.

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http://dx.doi.org/10.1186/1745-6215-9-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2249567PMC
January 2008

A decade of swings and arrows.

Climacteric 2007 Dec;10(6):443-5

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http://dx.doi.org/10.1080/13697130701783173DOI Listing
December 2007

HRT: a reappraisal of the risks and benefits.

Med J Aust 2007 Jun;186(12):643-6

University of Adelaide, Adelaide, SA, Australia.

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June 2007

The weight problem.

Climacteric 2007 Apr;10(2):83-4

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http://dx.doi.org/10.1080/13697130701276053DOI Listing
April 2007

Genetic polymorphisms and spontaneous preterm birth.

Obstet Gynecol 2007 Feb;109(2 Pt 1):384-91

School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.1097/01.AOG.0000252712.62241.1aDOI Listing
February 2007

Not all placebos are equally pleasing.

Climacteric 2006 Dec;9(6):401-3

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http://dx.doi.org/10.1080/13697130601066588DOI Listing
December 2006

Inadequate compliance with periconceptional folic acid supplementation in South Australia.

Aust N Z J Obstet Gynaecol 2006 Dec;46(6):528-33

Discipline of Obstetrics and Gynaecology, Women's and Children's Hospital, School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1479-828X.2006.00654.xDOI Listing
December 2006

Reducing the problems of the progestogen.

Climacteric 2006 Aug;9(4):241-3

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http://dx.doi.org/10.1080/13697130600877522DOI Listing
August 2006

Cerebral palsy and the application of the international criteria for acute intrapartum hypoxia.

Obstet Gynecol 2006 Jun;107(6):1357-65

Discipline of Obstetrics and Gynaecology, University of Adelaide, at the Women's and Children's Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1097/01.AOG.0000220544.21316.80DOI Listing
June 2006

Obstetric litigation is asphyxiating our maternity services.

Obstet Gynecol 2006 Jun;107(6):1382-5

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of Texas Medical Branch, Galveston, Texas, USA.

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http://dx.doi.org/10.1097/01.AOG.0000220531.25707.27DOI Listing
June 2006

The use and abuse of screening tests around menopause.

Climacteric 2006 Jun;9(3):153-5

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http://dx.doi.org/10.1080/13697130600727867DOI Listing
June 2006

Associations between fetal inherited thrombophilia and adverse pregnancy outcomes.

Am J Obstet Gynecol 2006 Apr;194(4):947.e1-10

Department of Obstetrics and Gynaecology, The University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1016/j.ajog.2006.01.111DOI Listing
April 2006

Postmenopausal hormone therapy: who now takes it and do they differ from non-users?

Aust N Z J Obstet Gynaecol 2006 Apr;46(2):128-35

Population Research and Outcome Studies, South Australian Department of Health, Adelaide, South Australia.

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http://dx.doi.org/10.1111/j.1479-828X.2006.00542.xDOI Listing
April 2006

The association between inherited cytokine polymorphisms and cerebral palsy.

Am J Obstet Gynecol 2006 Mar;194(3):674.e1-11

Department of Obstetrics and Gynaecology, The University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1016/j.ajog.2006.01.093DOI Listing
March 2006

The 'bioidentical/bioequivalent' hormone scam.

Climacteric 2006 Feb;9(1):1-3

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http://dx.doi.org/10.1080/13697130500487166DOI Listing
February 2006

The continuing use of complementary and alternative medicine in South Australia: costs and beliefs in 2004.

Med J Aust 2006 Jan;184(1):27-31

Department of Obstetrics and Gynaecology, University of Adelaide, Women's & Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.

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January 2006

Neurotropic viruses and cerebral palsy: population based case-control study.

BMJ 2006 Jan 6;332(7533):76-80. Epub 2006 Jan 6.

Department of Obstetrics and Gynaecology, University of Adelaide, Women's and Children's Hospital, 1st Floor Queen Victoria Building, 72 King William Road, Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1136/bmj.38668.616806.3ADOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1326927PMC
January 2006

How low can you go?

Climacteric 2005 Dec;8(4):305-6

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http://dx.doi.org/10.1080/13697130500401878DOI Listing
December 2005

Associations between inherited thrombophilias, gestational age, and cerebral palsy.

Am J Obstet Gynecol 2005 Oct;193(4):1437

Department of Obstetrics and Gynaecology, The University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1016/j.ajog.2005.02.107DOI Listing
October 2005

Climacteric - The Journal of Adult Women's Health & Medicine.

Climacteric 2005 Sep;8(3):201-202

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http://dx.doi.org/10.1080/13697130500196874DOI Listing
September 2005

The prevalence of inherited thrombophilias in a Caucasian Australian population.

Pathology 2005 Apr;37(2):160-3

Department of Obstetrics and Gynaecology, The University of Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1080/00313020500058250DOI Listing
April 2005

Evolution and revolution at the menopause.

Climacteric 2004 Dec;7(4):325-6

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December 2004

WHI, WHI, WHI?

Climacteric 2004 Sep;7(3):221-4

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September 2004

The impact of incontinence on health-related quality of life in a South Australian population sample.

Aust N Z J Public Health 2004 Apr;28(2):173-9

Population Research and Outcome Studies Unit, Department of Human Services, Adelaide, South Australia.

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April 2004

The trials and tribulations of long-term postmenopausal hormone therapy.

Obstet Gynecol Surv 2004 Feb;59(2):65-7

Department of Obstetircs and Gynaecology, University of Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1097/01.OGX.0000112149.78151.04DOI Listing
February 2004

Is combined estrogen/progestogen hormone therapy worth the risk?

Climacteric 2003 Sep;6(3):177-9

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September 2003

Antenatal causes of cerebral palsy: associations between inherited thrombophilias, viral and bacterial infection, and inherited susceptibility to infection.

Obstet Gynecol Surv 2003 Mar;58(3):209-20

Department of Obstetrics and Gynaecology, The University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1097/01.OGX.0000055205.21611.6EDOI Listing
March 2003

The prevalence of recalled low back pain during and after pregnancy: a South Australian population survey.

Aust N Z J Obstet Gynaecol 2002 Nov;42(5):482-5

Department of Obstetrics and Gynaecology, The University of Adelaide, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.0004-8666.2002.00482.xDOI Listing
November 2002

The escalating cost and prevalence of alternative medicine.

Prev Med 2002 Aug;35(2):166-73

Department of Obstetrics and Gynaecology, Adelaide University, Women's and Children's Hospital, North Adelaide, South Australia, 5000, Australia.

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August 2002

A scent of a woman.

Climacteric 2002 Jun;5(2):105-6

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June 2002

Projections of Australian obstetricians ceasing practice and the reasons.

Med J Aust 2002 May;176(9):425-8

Department of Obstetrics and Gynaecology, The University of Adelaide, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006.

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May 2002