Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

Placental Pathology in Beckwith–Wiedemann Syndrome According to Genotype/Epigenotype Subgroups

(2019) Lucie Gaillot-Durand et al.   Fetal and Pediatric Pathology

ZNF445 is a primary regulator of genomic imprinting

(2019) Nozomi Takahashi et al.   GENES & DEVELOPMENT

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

(2019) Federica Maria Valente et al.   GENETICS IN MEDICINE

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

(2019) David Monk et al.   NATURE REVIEWS GENETICS

Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction

(2019) Ana Monteagudo-Sánchez et al.   Clinical Epigenetics

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest

(2019) Jian Mu et al.   JOURNAL OF MEDICAL GENETICS

Syndromic Disorders Caused by Disturbed Human Imprinting

(2019) Diana Carli et al.   Journal of Clinical Research in Pediatric Endocrinology

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

(2019) Jasmin Beygo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2

(2019) Yuko Yamaguchi et al.   Clinical Epigenetics

Transgenerational inheritance: how impacts to the epigenetic and genetic information of parents affect offspring health

(2019) Miguel João Xavier et al.   HUMAN REPRODUCTION UPDATE

Molecular and clinical studies in 8 patients with Temple syndrome

(2018) G. Gillessen-Kaesbach et al.   CLINICAL GENETICS

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

(2018) David Monk et al.   Epigenetics

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

(2018) JianHua Qian et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epigenetic regulation in development: is the mouse a good model for the human?

(2018) Courtney W Hanna et al.   HUMAN REPRODUCTION UPDATE

Recurrent complete hydatidiform mole: where we are, is there a safe gestational horizon? Opinion and mini-review

(2018) Ioannis Kalogiannidis et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Maternal variants inNLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

(2018) Matthias Begemann et al.   JOURNAL OF MEDICAL GENETICS

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

(2018) Ngoc Minh Phuong Nguyen et al.   MODERN PATHOLOGY

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

(2018) Frédéric Brioude et al.   Nature Reviews Endocrinology

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

(2018) Giovanna Mantovani et al.   Nature Reviews Endocrinology

Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest

(2018) Xueqian Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?

(2018) Angela Sparago et al.   Clinical Epigenetics

Fetal growth restriction in a genetic model of sporadic Beckwith-Wiedemann Syndrome

(2018) S. J. Tunster et al.   Disease Models & Mechanisms

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

(2018) L. Fontana et al.   Epigenetics

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers

(2018) Lukas Soellner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A mouse model of angelman syndrome imprinting defects

(2018) Michael W Lewis et al.   HUMAN MOLECULAR GENETICS

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles

(2018) Ngoc Minh Phuong Nguyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Schaaf-Yang syndrome overview: Report of 78 individuals

(2018) John McCarthy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cannabinoid exposure and altered DNA methylation in rat and human sperm

(2018) Susan K. Murphy et al.   Epigenetics

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

(2017) Lukas Soellner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

(2017) Jasmin Beygo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

(2017) Rick Kamps et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Detection of fetal epigenetic biomarkers through genome-wide DNA methylation study for non-invasive prenatal diagnosis

(2017) Hong-Dan Wang et al.   Molecular Medicine Reports

Impairment of sperm DNA methylation in male infertility: a meta-analytic study

(2017) D. Santi et al.   Andrology

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

(2016) Yao Xu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novelIGF2/H19domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

(2016) Dorota Jurkiewicz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The human knockout phenotype ofPADI6is female sterility caused by cleavage failure of their fertilized eggs

(2016) S. Maddirevula et al.   CLINICAL GENETICS

Recent Advances in Imprinting Disorders

(2016) L. Soellner et al.   CLINICAL GENETICS

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

(2016) Masayo Kagami et al.   GENETICS IN MEDICINE

The subcortical maternal complex: multiple functions for one biological structure?

(2016) D. Bebbere et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

(2016) Emma L. Wakeling et al.   Nature Reviews Endocrinology

Angelman syndrome — insights into a rare neurogenetic disorder

(2016) Karin Buiting et al.   Nature Reviews Neurology

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

(2016) Marta Sanchez-Delgado et al.   TRENDS IN GENETICS

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances

(2016) Susanne Bens et al.   Epigenomics

Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome

(2016) Matthew Van De Pette et al.   PLoS Genetics

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

(2016) Anne Rochtus et al.   Clinical Epigenetics

Genomic imprinting in the human placenta

(2015) David Monk   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Filia Is an ESC-Specific Regulator of DNA Damage Response and Safeguards Genomic Stability

(2015) Bo Zhao et al.   Cell Stem Cell

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

(2015) Thomas Eggermann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2015) Surabhi Mulchandani et al.   GENETICS IN MEDICINE

A systematic review and meta-analysis of DNA methylation levels and imprinting disorders in children conceived by IVF/ICSI compared with children conceived spontaneously

(2015) G. Lazaraviciute et al.   HUMAN REPRODUCTION UPDATE

Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

(2015) Tsutomu Ogata et al.   JOURNAL OF HUMAN GENETICS

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

(2015) Elisa De Franco et al.   LANCET

Paternally Inherited IGF2 Mutation and Growth Restriction

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

Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome

(2015) Karl Oliver Kagan et al.   PRENATAL DIAGNOSIS

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations

(2015) Elie Akoury et al.   REPRODUCTIVE BIOMEDICINE ONLINE

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

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

The hydatidiform mole

(2015) Jean-Jacques Candelier   Cell Adhesion & Migration

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

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

(2014) Salah Azzi et al.   HUMAN MUTATION

Fetal intracardiac rhabdomyoma in beckwith-wiedemann syndrome

(2014) Ann Carolin Longardt et al.   JOURNAL OF CLINICAL ULTRASOUND

A familial disorder of altered DNA-methylation

(2014) Almuth Caliebe et al.   JOURNAL OF MEDICAL GENETICS

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

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

(2013) Rebecca L. Poole 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

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

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

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

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

NLRP5 Mediates Mitochondrial Function in Mouse Oocytes and Embryos1

(2012) Roxanne Fernandes et al.   BIOLOGY OF REPRODUCTION

Assisted reproduction treatment and epigenetic inheritance

(2012) A.P.A. van Montfoort et al.   HUMAN REPRODUCTION UPDATE

Culture of oocytes and risk of imprinting defects

(2012) Ellen Anckaert et al.   HUMAN REPRODUCTION UPDATE

Trim28 Is Required for Epigenetic Stability During Mouse Oocyte to Embryo Transition

(2012) D. M. Messerschmidt et al.   SCIENCE

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

(2011) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An atypical case of hypomethylation at multiple imprinted loci

(2011) Emma L Baple et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

In Embryonic Stem Cells, ZFP57/KAP1 Recognize a Methylated Hexanucleotide to Affect Chromatin and DNA Methylation of Imprinting Control Regions

(2011) Simon Quenneville et al.   MOLECULAR CELL

The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes

(2011) JianHua Qian et al.   MOLECULAR HUMAN REPRODUCTION

Mechanisms of imprint dysregulation

(2010) Bernhard Horsthemke   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Maternal-effect gene Ces5/Ooep/Moep19/Floped is essential for oocyte cytoplasmic lattice formation and embryonic development at the maternal-zygotic stage transition

(2010) Fumi Tashiro et al.   GENES TO CELLS

6q24 transient neonatal diabetes

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

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

(2009) Salah Azzi et al.   HUMAN MOLECULAR GENETICS

Role of Filia, a maternal effect gene, in maintaining euploidy during cleavage-stage mouse embryogenesis

(2009) P. Zheng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) Esther Meyer et al.   PLoS Genetics

Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

(2008) Ortal Barel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Role for PADI6 and the cytoplasmic lattices in ribosomal storage in oocytes and translational control in the early mouse embryo

(2008) P. Yurttas et al.   DEVELOPMENT

A Subcortical Maternal Complex Essential for Preimplantation Mouse Embryogenesis

(2008) Lei Li et al.   DEVELOPMENTAL CELL

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

(2008) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

(2008) Susanne E Boonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation

(2008) Catherine Deveault et al.   HUMAN MOLECULAR 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