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

The Lancet (British edition), 2015-09, Vol.386 (9997), p.957-963

2015

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

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.784-793

2016

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

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1377-1387

2016

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

Journal of paediatrics and child health, 2015-05, Vol.51 (5), p.555-560

2015

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

Genome research, 2019-07, Vol.29 (7), p.1057-1066

2019

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

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2174-2182

2013

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

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.170-175

2016

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

European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.240-243

2012

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

Journal of Pediatric Endocrinology and Metabolism, 2015-11, Vol.28 (11-12), p.1279

2015

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

European journal of human genetics : EJHG, 2015-04, Vol.23 (4), p.494-499

2015

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Relapsing diabetes can result from moderately activating mutations in KCNJ11

Human molecular genetics, 2005-04, Vol.14 (7), p.925-934

2005

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

European journal of human genetics : EJHG, 2010-06, Vol.18 (6), p.648-655

2010

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

BMC pediatrics, 2015-12, Vol.15 (1), p.200-200, Article 200

2015

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An atypical case of hypomethylation at multiple imprinted loci

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.360-362

2011

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Multilocus methylation defects in imprinting disorders

Biomolecular concepts, 2015-03, Vol.6 (1), p.47-57

2015

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Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

European journal of human genetics : EJHG, 2008-04, Vol.16 (4), p.453-461

2008

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

Journal of Pediatric Endocrinology and Metabolism, 2014-11, Vol.27 (11-12), p.1065

2014

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Report and review of described associations of M ayer‐ R okitansky‐ K üster‐ H auser syndrome and S ilver– R ussell syndrome

Journal of paediatrics and child health, 2015-05, Vol.51 (5), p.555-560

2015

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

European journal of pediatrics, 2010-02, Vol.169 (2), p.207-213

2010

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

Pediatric diabetes, 2010-02, Vol.11 (1), p.18-23

2010

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

Clinical epigenetics, 2015-04, Vol.7 (1), p.48-48, Article 48

2015

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

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.1990-1993

2010

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Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes : A comparative genomic and tagging single nucleotide polymorphism approach

Diabetes (New York, N.Y.), 2006-08, Vol.55 (8), p.2272-2276

2006

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

Diabetes (New York, N.Y.), 2007-07, Vol.56 (7), p.1930-1937

2007

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The phenotype and cardio-metabolic associations of Silver-Russell syndrome in an older cohort and the effects of childhood growth hormone treatment

Endocrine Abstracts, 2018-10

2018

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

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

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

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

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

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

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

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

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

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

Relapsing diabetes can result from moderately activating mutations in KCNJ11

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

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

An atypical case of hypomethylation at multiple imprinted loci

Multilocus methylation defects in imprinting disorders

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

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

Report and review of described associations of M ayer‐ R okitansky‐ K üster‐ H auser syndrome and S ilver– R ussell syndrome

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

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

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

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

Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes : A comparative genomic and tagging single nucleotide polymorphism approach

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

The phenotype and cardio-metabolic associations of Silver-Russell syndrome in an older cohort and the effects of childhood growth hormone treatment

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