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

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

Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age

(2012) Rinki Murphy et al.   BMC Medical Genetics

Aberrant DNA methylation of imprinted loci in human spontaneous abortions after assisted reproduction techniques and natural conception

(2012) H.-Y. Zheng et al.   HUMAN REPRODUCTION

Methylation levels at imprinting control regions are not altered with ovulation induction or in vitro fertilization in a birth cohort

(2012) R.C. Rancourt et al.   HUMAN REPRODUCTION

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

(2012) Hitoshi Hiura et al.   HUMAN REPRODUCTION

Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at theGNASLocus

(2012) Gustavo Perez-Nanclares et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Reproductive Outcomes After Assisted Conception

(2012) Vikram Sinai Talaulikar et al.   OBSTETRICAL & GYNECOLOGICAL SURVEY

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

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

(2011) S. Choufani et al.   GENOME RESEARCH

Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes†

(2011) Kazuhiko Nakabayashi et al.   HUMAN MOLECULAR GENETICS

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

Dynamic CpG island methylation landscape in oocytes and preimplantation embryos

(2011) Sébastien A Smallwood et al.   NATURE GENETICS

Mechanisms of imprint dysregulation

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

Prader-Willi syndrome and Angelman syndrome

(2010) Karin Buiting   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Russell-Silver syndrome

(2010) Thomas Eggermann   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Imprinting on chromosome 20: Tissue-specific imprinting and imprinting mutations in the GNAS locus

(2010) Gavin Kelsey   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Beckwith-Wiedemann syndrome

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

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

(2010) M Begemann et al.   CLINICAL GENETICS

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

(2010) L. E. Docherty et al.   DIABETOLOGIA

Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14

(2010) Tsutomu Ogata et al.   Epigenetics

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases

(2010) Salah Azzi et al.   Epigenetics

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

(2010) Claire Louise Susan Turner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

(2010) Z. Powis et al.   JOURNAL OF APPLIED GENETICS

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

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

(2009) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies

(2009) M.V. Gomes et al.   MOLECULAR HUMAN REPRODUCTION

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

(2009) Esther Meyer et al.   PLoS Genetics

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

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

(2008) F. Cerrato et al.   HUMAN MOLECULAR GENETICS

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprintedDLK1/GTL2gene cluster

(2008) Karin Buiting et al.   HUMAN MUTATION

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