Deborah J G Mackay

Deborah J G Mackay

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Deborah J G Mackay

Deborah J G Mackay

Publications by authors named "Deborah J G Mackay"

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52Publications

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Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.

J Med Genet 2020 Feb 13. Epub 2020 Feb 13.

Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK

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http://dx.doi.org/10.1136/jmedgenet-2019-106561DOI Listing
February 2020

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.

Horm Res Paediatr 2018 5;90(6):407-413. Epub 2019 Mar 5.

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000496700DOI Listing
August 2019

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects.

J Med Genet 2019 05 6;56(5):271-282. Epub 2019 Feb 6.

Reproduction and Genetics Department, Vrije Universiteit Brussel, Brussels, Belgium.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105513
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http://dx.doi.org/10.1136/jmedgenet-2018-105513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581078PMC
May 2019

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.

Nat Rev Genet 2019 04;20(4):235-248

Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', Caserta; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, Napoli, Italy.

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http://www.nature.com/articles/s41576-018-0092-0
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http://dx.doi.org/10.1038/s41576-018-0092-0DOI Listing
April 2019

Genetics, molar pregnancies and medieval ideas of monstrous births: the lump of flesh in .

Med Humanit 2019 Mar 7;45(1):2-9. Epub 2018 Aug 7.

Department of Human Genetics and Genomics Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.

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http://dx.doi.org/10.1136/medhum-2017-011387DOI Listing
March 2019

Human imprinting disorders: Principles, practice, problems and progress.

Eur J Med Genet 2017 Nov 14;60(11):618-626. Epub 2017 Aug 14.

Faculty of Medicine, University of Southampton, Duthie Building (MP808), Southampton University Hospital, Tremona Road, Southampton SO16 6YD, UK.

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http://dx.doi.org/10.1016/j.ejmg.2017.08.014DOI Listing
November 2017

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Clin Epigenetics 2016 7;8:27. Epub 2016 Mar 7.

Endocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.

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http://dx.doi.org/10.1186/s13148-016-0194-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782320PMC
March 2016

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.

Am J Med Genet A 2016 Jan 23;170A(1):170-5. Epub 2015 Sep 23.

Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

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http://doi.wiley.com/10.1002/ajmg.a.37400
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http://dx.doi.org/10.1002/ajmg.a.37400DOI Listing
January 2016

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Clin Epigenetics 2015 14;7:123. Epub 2015 Nov 14.

Endocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.

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http://dx.doi.org/10.1186/s13148-015-0143-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650860PMC
November 2015

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.

Eur J Hum Genet 2015 Apr 9;23(4):494-9. Epub 2014 Jul 9.

1] Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury NHS Foundation Trust, Salisbury, UK.

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http://dx.doi.org/10.1038/ejhg.2014.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247793PMC
April 2015

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.

J Med Genet 2014 Aug 2;51(8):495-501. Epub 2014 Jun 2.

Academic Unit of Human Development and Health, Human Genetics and Genomics Medicine group, Faculty of Medicine, University of Southampton, Southampton, UK Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Southampton, UK.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2014-102396
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http://dx.doi.org/10.1136/jmedgenet-2014-102396DOI Listing
August 2014

A familial disorder of altered DNA-methylation.

J Med Genet 2014 Jun 10;51(6):407-12. Epub 2014 Apr 10.

Institute of Human Genetics, University Hospital Schleswig-Holstein Campus Kiel/Christian-Albrechts University Kiel, Kiel, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2013-102149DOI Listing
June 2014

Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene.

J Clin Res Pediatr Endocrinol 2013 ;5(2):125-8

Şişli Etfal Education and Research Hospital, Division of Pediatric Endocrinology, İstanbul, Turkey.

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http://dx.doi.org/10.4274/Jcrpe.928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701919PMC
January 2014

Evidence for anticipation in Beckwith-Wiedemann syndrome.

Eur J Hum Genet 2013 Dec 10;21(12):1344-8. Epub 2013 Apr 10.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1038/ejhg.2013.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831082PMC
December 2013

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

Eur J Med Genet 2013 Feb 20;56(2):114-7. Epub 2012 Dec 20.

Department of Paediatric Oncology, University Hospital Southampton Foundation Trust, Southampton, UK.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.001DOI Listing
February 2013

An atypical case of hypomethylation at multiple imprinted loci.

Eur J Hum Genet 2011 Mar 5;19(3):360-2. Epub 2011 Jan 5.

SW Thames Regional Genetics Service, St George's NHS Trust, London, UK.

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http://dx.doi.org/10.1038/ejhg.2010.218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061991PMC
March 2011

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting.

Am J Med Genet A 2010 Aug;152A(8):1990-3

Division of Human Genetics, University of Southampton School of Medicine, Southampton SO16 6YD, UK.

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http://doi.wiley.com/10.1002/ajmg.a.33530
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http://dx.doi.org/10.1002/ajmg.a.33530DOI Listing
August 2010

Transient neonatal diabetes mellitus type 1.

Am J Med Genet C Semin Med Genet 2010 Aug;154C(3):335-42

University of Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.c.30272DOI Listing
August 2010

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins.

Eur J Pediatr 2010 Feb 13;169(2):207-13. Epub 2009 Jun 13.

Department of Pediatrics, Haukeland University Hospital, 5021 Bergen, Norway.

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http://link.springer.com/10.1007/s00431-009-1008-y
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http://dx.doi.org/10.1007/s00431-009-1008-yDOI Listing
February 2010

Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.

Pediatr Dev Pathol 2009 Sep-Oct;12(5):417-20

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.2350/09-03-0628-CR.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2916925PMC
December 2009

Zellweger syndrome resulting from maternal isodisomy of chromosome 1.

Am J Med Genet A 2007 Sep;143A(18):2172-7

Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Princess Anne Hospital, Coxford Road, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.31912DOI Listing
September 2007

Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24.

J Pediatr Endocrinol Metab 2006 Nov;19(11):1353-7

Department of Endocrinology, Mother and Child Health Care Institute of Serbia, Radoja Dakica 8, 11070 Belgrade, Serbia.

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http://dx.doi.org/10.1515/jpem.2006.19.11.1353DOI Listing
November 2006

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Hum Mol Genet 2005 Apr 17;14(7):925-34. Epub 2005 Feb 17.

Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DW, USA.

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http://dx.doi.org/10.1093/hmg/ddi086DOI Listing
April 2005

Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

Hum Genet 2005 Mar 6;116(4):255-61. Epub 2005 Jan 6.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK.

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http://dx.doi.org/10.1007/s00439-004-1236-1DOI Listing
March 2005