Featured
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Incorporating information from markers in LD with test locus for detecting imprinting and maternal effects
- Fangyuan Zhang
- & Shili Lin
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Searching for parent-of-origin effects on cardiometabolic traits in imprinted genomic regions
- Einat Granot-Hershkovitz
- , Peitao Wu
- & Hagit Hochner
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Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment
- Jasmin Beygo
- , Joachim Bürger
- & Karin Buiting
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A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21
- Laïla Allach El Khattabi
- , Stéphanie Backer
- & Sandrine Barbaux
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New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
- Jasmin Beygo
- , Alma Küchler
- & Karin Buiting
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Policy
| Open AccessEMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
- Katja Eggermann
- , Jet Bliek
- & Thomas Eggermann
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A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome
- Jasmin Beygo
- , Ivana Joksic
- & Karin Buiting
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Article
| Open AccessComprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)
- Masayo Kagami
- , Kenji Kurosawa
- & Tsutomu Ogata
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Article
| Open AccessEpimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype
- Masayo Kagami
- , Seiji Mizuno
- & Tsutomu Ogata
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Article
| Open AccessVery small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b
- Faisal I Rezwan
- , Rebecca L Poole
- & Deborah JG Mackay
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Joint detection of association, imprinting and maternal effects using all children and their parents
- Miao Han
- , Yue-Qing Hu
- & Shili Lin
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Frequency and characterization of DNA methylation defects in children born SGA
- Susanne Bens
- , Andrea Haake
- & Reiner Siebert
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Short Report |
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour
- Magdalena Gogiel
- , Matthias Begemann
- & Gertrud Strobl-Wildemann
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Short Report |
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human
- Partha Sen
- , Romana Gerychova
- & Pawel Stankiewicz
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Variable imprinting of the MEST gene in human preimplantation embryos
- John D Huntriss
- , Karen E Hemmings
- & Helen M Picton
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| Open AccessA genome-wide search for linkage to allergic rhinitis in Danish sib-pair families
- Lisbeth Venø Kruse
- , Mette Nyegaard
- & Anders Dupont Børglum
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Analysis of H19 methylation in control and abnormal human embryos, sperm and oocytes
- Samira Ibala-Romdhane
- , Mohamed Al-Khtib
- & Annick Lefèvre
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Short Report |
An atypical case of hypomethylation at multiple imprinted loci
- Emma L Baple
- , Rebecca L Poole
- & Deborah J G Mackay
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Estimating penetrance from multiple case families with predisposing mutations: extension of the ‘genotype-restricted likelihood’ (GRL) method
- Bernard Bonaïti
- , Valérie Bonadona
- & Catherine Bonaïti-Pellié
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Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34
- Frauke Stanke
- , Colin Davenport
- & Burkhard Tümmler