I. Temple

发表

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

C. Mattocks, L. Docherty, R. Poole, 2010, Diabetologia.

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

Z. Tümer, K. Brøndum‐Nielsen, D. Mackay, 2011, Journal of Medical Genetics.

Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome.

I. Temple, 2007, Endocrine development.

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

Z. Tümer, N. Tommerup, P. Guldberg, 2016, BMC Medical Genetics.

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

R. Siebert, Jian-Bing Fan, J. Martín-Subero, 2008, American journal of medical genetics. Part A.

Transient neonatal diabetes mellitus type 1

D. Mackay, I. Temple, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

D. Mackay, I. Temple, H. Bullman, 2009, BMJ Case Reports.

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

D. Mackay, I. Temple, 2022, Molecular Diagnosis & Therapy.

Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.

J. Barber, D. Mackay, J. Shield, 2000, Diabetes.

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

Z. Tümer, P. Lapunzina, T. Ogata, 2022, Clinical epigenetics.

Aberrant genomic imprinting in chromosome 11p15-associated congenital growth disorders : consequences for DNA-diagnostics

F. Lalatta, P. Ferrari, D. Mackay, 2009 .

Response to hepatitis B vaccine in relation to the hepatitis B status of family members.

H. Inskip, H. Whittle, A. Hall, 1991, International journal of epidemiology.

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

S. Bens, R. Siebert, I. Temple, 2014, European Journal of Human Genetics.

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

D. Mackay, I. Temple, H. Bullman, 2007, Journal of Medical Genetics.

Neonatal diabetes mellitus

J. Shield, I. Temple, 2002, Pediatric diabetes.

Epigenotype e phenotype correlations in Silver e Russell syndrome

T. Tangeraas, M. Alders, S. Price, 2022 .

Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.

E. Hatchwell, J. Crolla, J. Barber, 1996, The Journal of pediatrics.

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

Z. Tümer, P. Lapunzina, T. Ogata, 2022, Clinical Epigenetics.

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

R. Gibbs, N. Jojic, A. Visel, 2019, Cell.

Recent Advances in Imprinting Disorders

Z. Tümer, D. Monk, E. Maher, 2017, Clinical genetics.

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

Z. Tümer, T. Eggermann, I. Temple, 2016, Clinical Epigenetics.

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

Z. Tümer, N. Tommerup, P. Guldberg, 2016, BMC Medical Genetics.

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

N. Carter, R. Sandstrom, H. Fiegler, 2005, Journal of Medical Genetics.

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

S. McKee, M. McEntagart, D. Mackay, 2021, Journal of Medical Genetics.

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

I. Temple, A. Caliebe, D. Mackay, 2013, American journal of medical genetics. Part A.

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

R. Siebert, J. Clayton-Smith, P. Njølstad, 2006, Human Genetics.

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

J. Clayton-Smith, N. S. Thomas, H. White, 2006, Human Genetics.

Transient neonatal diabetes, a disorder of imprinting

J. Shield, I. Temple, 2002, Journal of medical genetics.

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

N. Carter, J. Crolla, A. Vianna-Morgante, 2009, Cytogenetic and Genome Research.

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

D. Mackay, I. Temple, J. Davies, 2022, American journal of medical genetics. Part A.

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

T. Briggs, D. Mackay, K. Chandler, 2016, American journal of medical genetics. Part A.

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

A. Pagnamenta, N. Popitsch, Jenny C. Taylor, 2017, European Journal of Human Genetics.

Central Precocious Puberty in a Girl with Triple X Syndrome and Neonatal Diabetes Mellitus Associated with Paternal Isodisomy of Chromosome 6

A. Franzese, G. Valerio, D. Mackay, 2001, Journal of pediatric endocrinology & metabolism : JPEM.

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

J. Crolla, S. Ellard, M. Polak, 2010, American journal of medical genetics. Part A.

Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region

J. Wit, S. Kant, D. Mackay, 2005, Human Genetics.

Zellweger syndrome resulting from maternal isodisomy of chromosome 1

H. Waterham, R. Wanders, N. S. Thomas, 2007, American journal of medical genetics. Part A.

Prematurity and Genetic Testing for Neonatal Diabetes

B. Shields, A. Hattersley, S. Ellard, 2016, Pediatrics.

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

J. Crolla, I. Temple, D. Mackay, 2010, American journal of medical genetics. Part A.

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

H. Inskip, G. Binder, I. Temple, 2022, Clinical endocrinology.

A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome - a Case Report.

V. Iotova, I. Temple, D. Mackay, 2023, Journal of clinical research in pediatric endocrinology.

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

T. Eggermann, S. Mansour, I. Temple, 2015, Nature Communications.

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

E. Zackai, I. Krantz, N. Spinner, 2015, Genetics in Medicine.

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

I. Temple, D. Mackay, I. Temple, 2014, Journal of Medical Genetics.

Epigenotype–phenotype correlations in Silver–Russell syndrome

I. Temple, S Kumar, D. Mackay, 2010, Journal of Medical Genetics.

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

S. Mehta, S. Mansour, I. Temple, 2010, European Journal of Human Genetics.

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

I. Temple, M. Cubellis, F. Lalatta, 2009, European Journal of Human Genetics.

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

B. Olsen, I. Temple, K. Brøndum‐Nielsen, 2008, European Journal of Human Genetics.

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

I. Temple, D. Mackay, I. Temple, 2017, European journal of medical genetics.

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

A. Hattersley, S. Ellard, I. Temple, 2013, Diabetologia.

Aetiopathology and genetic basis of neonatal diabetes

I. Temple, M. Whiteford, J. Shield, 1997, Archives of disease in childhood. Fetal and neonatal edition.

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

S. Ellard, M. Polak, A. Gloyn, 2002, Diabetologia.

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

David I. Wilson, I. Temple, J. Holloway, 2014, Journal of Medical Genetics.

An atypical case of hypomethylation at multiple imprinted loci

S. Mansour, E. Baple, I. Temple, 2011, European Journal of Human Genetics.

6q24 transient neonatal diabetes

I. Temple, J. Shield, I. Temple, 2010, Reviews in Endocrine and Metabolic Disorders.

Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.

J. Barber, D. Mackay, J. Shield, 2000, Diabetes.

A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?

I. Temple, I. Lerer, D. Abeliovich, 1999, American journal of human genetics.

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

F. Ashcroft, A. Hattersley, S. Ellard, 2005, Human molecular genetics.

Clinical utility gene card for: Beckwith–Wiedemann Syndrome

R. Weksberg, I. Temple, P. Lapunzina, 2013, European Journal of Human Genetics.

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

T. Prescott, F. Rezwan, D. Mackay, 2014, European Journal of Human Genetics.

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

I. Temple, Michael Wright, Ahmed S N Alhendi, 2023, American journal of medical genetics. Part A.

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

I. Temple, B. Searle, A. Dauber, 2019, Hormone Research in Paediatrics.

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

T. Briggs, D. Mackay, K. Chandler, 2016, American journal of medical genetics. Part A.

Imprinting Disorders of Early Childhood

J. Clayton-Smith, I. Temple, D. Mackay, 2012 .

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

Z. Tümer, K. Brøndum‐Nielsen, D. Mackay, 2011, Journal of Medical Genetics.

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

I. Temple, D. Mackay, I. Temple, 2018, Medical Humanities.