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

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

(2015) Surabhi Mulchandani et al.   GENETICS IN MEDICINE

A systems-level approach to parental genomic imprinting: the imprinted gene network includes extracellular matrix genes and regulates cell cycle exit and differentiation

(2015) Hala Al Adhami et al.   GENOME RESEARCH

Loss of Methylation atGNASExon A/B Is Associated With Increased Intrauterine Growth

(2015) Anne-Claire Bréhin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

(2015) Salah Azzi et al.   JOURNAL OF MEDICAL GENETICS

Paternally Inherited IGF2 Mutation and Growth Restriction

(2015) Matthias Begemann et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mosaicism and uniparental disomy in prenatal diagnosis

(2015) Thomas Eggermann et al.   TRENDS IN MOLECULAR MEDICINE

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

(2015) Louise E. Docherty et al.   Nature Communications

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

(2015) Thomas Eggermann et al.   Clinical Epigenetics

The impact of assisted reproductive technologies on genomic imprinting and imprinting disorders

(2014) Asli Uyar et al.   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

(2014) Jasmin Beygo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The specification of imprints in mammals

(2014) C W Hanna et al.   HEREDITY

MKRN3 Mutations in Familial Central Precocious Puberty

(2014) Felix Schreiner et al.   Hormone Research in Paediatrics

Altered expression of the imprinted transcription factor PLAGL1 deregulates a network of genes in the human IUGR placenta

(2014) Isabel Iglesias-Platas et al.   HUMAN MOLECULAR GENETICS

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

(2014) Walid Abi Habib et al.   HUMAN MOLECULAR GENETICS

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

(2014) Salah Azzi et al.   HUMAN MUTATION

A novel MKRN3 missense mutation causing familial precocious puberty

(2014) L. de Vries et al.   HUMAN REPRODUCTION

Central Precocious Puberty in a Girl and Early Puberty in Her Brother Caused by a Novel Mutation in theMKRN3Gene

(2014) Nikolaos Settas et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

(2014) Delanie B. Macedo et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2014) Yiannis Ioannides et al.   JOURNAL OF MEDICAL GENETICS

The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome

(2014) Yonatan Stelzer et al.   NATURE GENETICS

Insulin and insulin-like growth factor 1 receptors are required for normal expression of imprinted genes

(2014) Jeremie Boucher et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

(2014) Abdulla Ibrahim et al.   Clinical Epigenetics

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

(2013) Jennifer M. Kalish et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2013) L. E. Docherty et al.   DIABETOLOGIA

Looking for CDKN1C enhancers

(2013) Flavia Cerrato et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance

(2013) F. Brioude et al.   Hormone Research in Paediatrics

GNAS-Related Loss-of-Function Disorders and the Role of Imprinting

(2013) Agnès Linglart et al.   Hormone Research in Paediatrics

Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

(2013) Stéphanie Maupetit-Méhouas et al.   HUMAN MUTATION

PaternalGNASMutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development

(2013) Nicolas Richard et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

CDKN1Cmutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

(2013) F Brioude et al.   JOURNAL OF MEDICAL GENETICS

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

(2013) Ana Paula Abreu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

(2013) Louise Tee et al.   Clinical Epigenetics

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

(2012) Matthias Begemann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up

(2012) S. E. Boonen et al.   DIABETES CARE

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

(2012) Masayo Kagami et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

(2012) Jasmin Beygo et al.   HUMAN MOLECULAR GENETICS

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction

(2012) Agostina De Crescenzo et al.   JOURNAL OF MEDICAL GENETICS

Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features

(2012) Sabrina Spengler et al.   JOURNAL OF PEDIATRICS

Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features

(2011) T Eggermann et al.   CLINICAL GENETICS

Pseudohypoparathyroidism: Diagnosis and Treatment

(2011) Giovanna Mantovani   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2011) K. Gronskov et al.   JOURNAL OF MEDICAL GENETICS

Angelman syndrome: Mutations influence features in early childhood

(2010) Wen-Hann Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Beckwith-Wiedemann syndrome

(2010) Sanaa Choufani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Epigenotype-phenotype correlations in Silver-Russell syndrome

(2010) E. L. Wakeling et al.   JOURNAL OF MEDICAL GENETICS

6q24 transient neonatal diabetes

(2010) I. Karen Temple et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers

(2010) Masayo Kagami et al.   PLoS Genetics

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

(2009) Julie Demars et al.   HUMAN MOLECULAR GENETICS

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

(2009) A. J. de Smith et al.   HUMAN MOLECULAR GENETICS

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

(2009) S. Bruce et al.   JOURNAL OF MEDICAL GENETICS

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

(2009) Kana Hosoki et al.   JOURNAL OF PEDIATRICS

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

(2009) Esther Meyer et al.   PLoS Genetics

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

(2008) Deborah J G Mackay et al.   NATURE GENETICS

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

(2008) Masayo Kagami et al.   NATURE GENETICS