| P50 | author | Deborah Jg Mackay | Q64502757 |
| | Almuth Caliebe | Q73758538 |
| P2093 | author name string | I Karen Temple | |
| | Claire Turner | |
| | Louise E Docherty | |
| | Rebecca L Poole | |
| | Abeer Al Sayegh | |
| | Anna Lehmann | |
| | Lucy Harrison | |
| | Emma Baple | |
| | Emma Wakeling | |
| | International Clinical Imprinting Consortium | |
| P2860 | cites work | Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 | Q24312925 |
| | A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS | Q24531505 |
| | DNA methylation and human disease | Q29615417 |
| | Maternal UPD 20 in a hyperactive child with severe growth retardation | Q30634203 |
| | Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). | Q33419813 |
| | The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers | Q33619072 |
| | Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. | Q34326159 |
| | Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells | Q34328129 |
| | Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci | Q34329150 |
| | Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age | Q34463847 |
| | Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans | Q34492213 |
| | A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes | Q34605643 |
| | An atypical case of hypomethylation at multiple imprinted loci | Q34705172 |
| | Imprinting and disease | Q35043723 |
| | Dynamic CpG island methylation landscape in oocytes and preimplantation embryos | Q35135165 |
| | Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte | Q35204932 |
| | Imprinting errors and developmental asymmetry | Q35213638 |
| | Methylation levels at imprinting control regions are not altered with ovulation induction or in vitro fertilization in a birth cohort | Q36035241 |
| | The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region | Q36927144 |
| | Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14. | Q37242328 |
| | Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature | Q37564857 |
| | Mechanisms of imprint dysregulation | Q37783977 |
| | Prader–Willi syndrome and Angelman syndrome | Q37783981 |
| | Imprinting on chromosome 20: Tissue‐specific imprinting and imprinting mutations in theGNASlocus | Q37783982 |
| | Reproductive outcomes after assisted conception | Q38044617 |
| | Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis | Q40693831 |
| | Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes. | Q42669985 |
| | Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes. | Q43045181 |
| | Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. | Q43825665 |
| | Aberrant DNA methylation of imprinted loci in human spontaneous abortions after assisted reproduction techniques and natural conception | Q43837126 |
| | 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 | Q45340913 |
| | Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies. | Q48719048 |
| | Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases. | Q52600968 |
| | Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus. | Q54315268 |
| | Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour | Q57976817 |
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 2174-2182 | |
| P577 | publication date | 2013-08-02 | |
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders | |
| P478 | volume | 161A | |