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Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity
- Galina Y Zheleznyakova
- , Sarah Voisin
- & Helgi B Schiöth
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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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Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis
- Andreas Leidenroth
- , Hanne Sørmo Sorte
- & Jane E Hewitt
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Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell lines
- Karolina Åberg
- , Amit N Khachane
- & Edwin JCG van den Oord
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DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations
- Erica Lana
- , André Mégarbané
- & Albertina De Sario
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MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study
- Mireia Gausachs
- , Pilar Mur
- & Gabriel Capellá
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Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects
- Zhuo Liu
- , Zhigang Wang
- & Jianxin Wu
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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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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation
- Ute Grasshoff
- , Michael Bonin
- & Dagmar Wieczorek
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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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Tumour-specific methylation of PTPRG intron 1 locus in sporadic and Lynch syndrome colorectal cancer
- Eddy H J van Roon
- , Noël F C C de Miranda
- & Judith M Boer
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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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Short Report |
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency
- Judit García-Villoria
- , Laura Gort
- & Antonia Ribes
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DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia
- Ryan KC Yuen
- , Maria S Peñaherrera
- & Wendy P Robinson
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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
- Claire Louise Susan Turner
- , Deborah M Mackay
- & I Karen Temple
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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