Ruth McGowan

Ruth McGowan

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Ruth McGowan

Ruth McGowan

Publications by authors named "Ruth McGowan"

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22Publications

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Serum Anti-Müllerian Hormone In The Prediction Of Response To hCG Stimulation In Children With DSD.

J Clin Endocrinol Metab 2020 Feb 4. Epub 2020 Feb 4.

Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK.

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http://dx.doi.org/10.1210/clinem/dgaa052DOI Listing
February 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Novel PRKAG2 Variant Manifesting with a Cardiac Arrest in a Child.

Pediatr Cardiol 2019 Nov 12. Epub 2019 Nov 12.

Department of Pediatric Cardiology, Royal Hospital for Children, 1345 Govan Rd, Glasgow, G51 4TF, UK.

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http://dx.doi.org/10.1007/s00246-019-02245-6DOI Listing
November 2019

Genetic testing of XY newborns with a suspected disorder of sex development.

Curr Opin Pediatr 2018 08;30(4):548-557

Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Royal Hospital for Children.

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http://dx.doi.org/10.1097/MOP.0000000000000644DOI Listing
August 2018

Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life

J Clin Res Pediatr Endocrinol 2018 07 19;10(3):264-273. Epub 2018 Mar 19.

University of Glasgow Faculty of Medicine, Royal Hospital for Children, Clinic of Child Health, Glasgow, United Kingdom

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http://dx.doi.org/10.4274/jcrpe.0029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6083474PMC
July 2018

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 "DSDnet".

Eur J Endocrinol 2018 Jul 4. Epub 2018 Jul 4.

R McGowan, Department of Clinical Genetics, Queen Elizabeth University Hospital Campus, Glasgow, United Kingdom of Great Britain and Northern Ireland.

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http://dx.doi.org/10.1530/EJE-18-0256DOI Listing
July 2018

Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study.

Sex Dev 2016 2;10(3):130-5. Epub 2016 Sep 2.

West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK.

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http://dx.doi.org/10.1159/000447958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5079067PMC
November 2017

Prescribing an automated external defibrillator for children at increased risk of sudden arrhythmic death.

Cardiol Young 2017 Sep 13;27(7):1271-1279. Epub 2017 Jun 13.

Departments of Cardiology and Clinical Genetics,Royal Hospital for Children,Queen Elizabeth University Hospitals,Glasgow,G51 4TF,United Kingdom.

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http://dx.doi.org/10.1017/S1047951117000026DOI Listing
September 2017

The outcome of prenatal identification of sex chromosome abnormalities.

Arch Dis Child Fetal Neonatal Ed 2016 Sep 13;101(5):F423-7. Epub 2016 Jan 13.

Department of Clinical Genetics, Southern General Hospital, Glasgow, UK.

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http://dx.doi.org/10.1136/archdischild-2015-309681DOI Listing
September 2016

DNA copy number variations are important in the complex genetic architecture of müllerian disorders.

Fertil Steril 2015 Apr 20;103(4):1021-1030.e1. Epub 2015 Feb 20.

School of Medicine, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow, United Kingdom.

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http://dx.doi.org/10.1016/j.fertnstert.2015.01.008DOI Listing
April 2015

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

Clin Genet 2013 Feb 9;83(2):187-90. Epub 2012 Apr 9.

North Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, UK.

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http://dx.doi.org/10.1111/j.1399-0004.2012.01876.xDOI Listing
February 2013

Clinical features and respiratory complications in Myhre syndrome.

Eur J Med Genet 2011 Nov-Dec;54(6):e553-9. Epub 2011 Jul 21.

Ferguson-Smith Dept. of Clinical Genetics, Yorkhill Hospital, Glasgow, UK.

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http://dx.doi.org/10.1016/j.ejmg.2011.07.001DOI Listing
January 2012

X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.

Am J Med Genet A 2011 Oct 9;155A(10):2370-80. Epub 2011 Sep 9.

Molecular Genetics Laboratory, GSTS Pathology, Guy's Hospital, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.33913DOI Listing
October 2011

Novel features in auriculo-condylar syndrome.

Clin Dysmorphol 2011 Jan;20(1):1-10

Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32833e56f5DOI Listing
January 2011