Deborah G. Mackay

Southampton, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 64 publications

Temple syndrome - an under-recognised multi-system growth disorder: large cohort analysis and proposed scoring system.

Temple syndrome - an under-recognised multi-system growth disorder: large cohort analysis and proposed scoring system.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 06, 2026

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Journal: Clinical epigenetics

Published: April 25, 2024

Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes.

Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes.

Journal: Pediatric diabetes

Published: January 03, 2024

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.

Journal: The Journal of clinical endocrinology and metabolism

Published: November 04, 2023

A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.

A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.

Journal: American journal of medical genetics. Part A

Published: May 04, 2023

Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome

Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome

Journal: Journal of clinical research in pediatric endocrinology

Published: February 02, 2023

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

Journal: Clinical epigenetics

Published: May 20, 2022

Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.

Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.

Journal: Molecular diagnosis & therapy

Published: April 03, 2022

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Journal: Clinical epigenetics

Published: January 07, 2022

A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.

A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.

Journal: American journal of medical genetics. Part A

Published: August 25, 2021

Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.

Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.

Journal: Clinical endocrinology

Published: August 17, 2021

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.

Journal: Journal of medical genetics

Published: January 06, 2021

Showing 1-12 of 64

Last Updated: 09/26/2026