Deborah J. Mackay

Southampton, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 10 publications

Prematurity and Genetic Testing for Neonatal Diabetes.

Prematurity and Genetic Testing for Neonatal Diabetes.

Journal: Pediatrics

Published: June 14, 2016

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

Journal: American journal of human genetics

Published: February 29, 2016

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Journal: European journal of human genetics : EJHG

Published: November 26, 2015

Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea.

Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea.

Journal: Diabetes research and clinical practice

Published: October 17, 2015

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Journal: European journal of human genetics : EJHG

Published: July 15, 2015

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.

Journal: Clinical epigenetics

Published: January 08, 2015

Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome.

Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome.

Journal: Journal of paediatrics and child health

Published: October 18, 2014

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

Journal: European journal of endocrinology

Published: October 08, 2014

3-M syndrome: a growth disorder associated with IGF2 silencing.

3-M syndrome: a growth disorder associated with IGF2 silencing.

Journal: Endocrine connections

Published: October 24, 2013

Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children.

Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children.

Journal: Diabetes research and clinical practice

Published: March 06, 2012

Showing 1-10 of 10

Last Updated: 09/26/2026