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List of works by Deborah Jg Mackay

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

scientific article

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

scientific article published on 01 March 2019

A familial disorder of altered DNA-methylation

scientific article published on 10 April 2014

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

scientific article published on 01 July 2006

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

scientific article

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

scientific article

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission

scientific article

An atypical case of hypomethylation at multiple imprinted loci

scientific article

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1 ⬇️

scientific article published on August 24, 2011

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

scientific article published on 06 January 2005

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

scientific article published on 24 May 2016

Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia

scientific article published on 01 November 2014

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

scientific article published on 26 April 2016

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

scientific article published on 9 March 2015

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

scientific article published on 6 February 2013

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

scientific article published on 03 July 2013

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

scientific article published on 26 February 2014

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes

scientific article published on 01 February 2002

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

scientific article published on September 2009

Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management.

scientific article published on 10 June 2015

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

scientific article

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

scientific article published on 13 June 2009

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

scientific article published on 28 January 2011

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

scientific article

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

scientific article published on 04 March 2019

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

scientific article published on 11 May 2016

Epigenotype-phenotype correlations in Silver-Russell syndrome

scientific article

Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

scientific article published on 05 January 2006

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

scientific article published on 7 March 2016

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

scientific article

Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up.

scientific article published on 24 April 2011

Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes.

scientific article published on 30 July 2010

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

scientific article published on 06 February 2019

Genetics, molar pregnancies and medieval ideas of monstrous births: the lump of flesh in The King of Tars

scientific article published on 07 August 2018

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

scientific article (publication date: April 2014)

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

scientific article

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

scientific article published on 21 March 2019

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

scientific article published on 01 April 2019

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

scientific article published on 01 January 2018

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

scientific article published on 03 June 2019

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

scientific article published on 20 December 2012

Human imprinting disorders: Principles, practice, problems and progress

scientific article published on 14 August 2017

Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.

scientific article published on 31 October 2012

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

scientific article

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

scientific article

Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.

scientific article published on 3 June 2009

Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets.

scientific article published on 8 November 2012

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

article

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

scientific article

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

scientific article published on 28 June 2018

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

scientific article published on 6 August 2015

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

scientific article published on 24 March 2018

Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus

scientific article published on 01 December 2008

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome

scientific article published on 12 May 2008

Multilocus methylation defects in imprinting disorders.

scientific article published on March 2015

Mutation of HERC2 causes developmental delay with Angelman-like features.

scientific article

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

article

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

scientific article

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.

scientific article published on 24 July 2015

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

scientific article published in February 2010

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

scientific article

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

scientific article published on 13 February 2020

Prematurity and Genetic Testing for Neonatal Diabetes.

scientific article published on 18 August 2016

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

scientific article published on 28 October 2015

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus

scientific article

Recent Advances in Imprinting Disorders.

scientific article published on July 2016

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

scientific article

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

scientific article

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

scientific article published on 15 February 2018

Rho GTPases ⬇️

scientific article published on August 14, 1998

Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretion

scientific article published on June 2015

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

scientific article

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

scientific article published on 23 September 2015

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

scientific article published on 02 June 2014

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

scientific article published on 28 July 2015

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

scientific article published on 11 December 2019

Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report

scientific article published on 2 December 2015

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

scientific article published on January 2013

Transient neonatal diabetes mellitus type 1.

scientific article

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up

scientific article published on 12 November 2012

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

scientific article

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