Results 21 to 30 of about 3,137,340 (284)

Clinical characteristics and epilepsy in genomic imprinting disorders: Angelman syndrome and Prader-Willi syndrome. [PDF]

Tzu Chi Med J, 2020
Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are considered sister imprinting disorders. Although both AS and PWS congenital neurodevelopmental disorders have chromosome 15q11.3-q13 dysfunction, their molecular mechanisms differ owing to ...
Wang TS, Tsai WH, Tsai LP, Wong SB.
europepmc   +2 more sources

Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders. [PDF]

Sci Adv, 2019
Temple or Silver-Russell syndrome? We reveal the molecular reasons for the clinical resemblance between these two syndromes. Imprinting disorders (IDs) often affect growth in humans, leading to diseases with overlapping features, regardless of the ...
Abi Habib W, Brioude F, Azzi S, Rossignol S, Rossignol S, Linglart A, Sobrier ML, Giabicani É, Steunou V, Harbison MD, Le Bouc Y, Netchine I.   +11 more
europepmc   +2 more sources

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care. [PDF]

Clinical Epigenetics, 2015
Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of ...
Eggermann, Thomas, Grønskov, Karin, Linglart, Agnès, Mackay, Deborah, Maher, Eamonn R, Monk, David, Netchine, Irène, Riccio, Andrea, Temple, I Karen, Tümer, Zeynep   +9 more
core   +6 more sources

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management. [PDF]

Int J Mol Sci, 2019
Silver–Russell and Beckwith–Wiedemann syndromes (SRS, BWS) are rare congenital human disorders characterized by opposite growth disturbances. With the increasing knowledge on the molecular basis of SRS and BWS, it has become obvious that the disorders ...
Wesseler K, Kraft F, Eggermann T.
europepmc   +2 more sources

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders [PDF]

Clinical Epigenetics
Introduction Imprinting disorders (IDs) are a rare class of diseases caused by the disruption of imprinted genes, i.e., genes with a specific pattern of expression from only one allele.
Frédéric Brioude, Martin A. Haagmans, Marcel Mannens, Irene Netchine, Marielle Alders, Peter Henneman, Jet Bliek   +6 more
doaj   +2 more sources

Molecular testing for imprinting disorders [PDF]

Medizinische Genetik, 2020
Imprinting disorders are a group of rare diseases with a broad phenotypic spectrum caused by a wide variety of genetic and epigenetic disturbances of imprinted genes or gene clusters.
J. Beygo, Deniz Kanber, T. Eggermann, M. Begemann   +3 more
semanticscholar   +3 more sources

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome [PDF]

European Journal of Human Genetics, 2016
Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions.
A Behnecke, A De Crescenzo, A Ibrahim, A Mussa, A Sparago, AC Smith, Andrea Riccio, B Keren, C Shuman, D Prawitt, David Monk, Deborah JG Mackay, Dirk Prawitt, DJ Mackay, DJ Mackay, E Meyer, Eamonn R Maher, EL Wakeling, Elizabeth Algar, F Brioude, F Brioude, F Brioude, Fiona Macdonald, Frédéric Brioude, G Binder, Gudrun Moore, H Bullman, HM Saal, Irène Netchine, J Beygo, J Bliek, Jet Bliek, JM Dupont, JM Kalish, Karen Grønskov, Karin Buiting, Katja Eggermann, KY Niederhoffer, L Cardarelli, L Tee, LE Docherty, Lukas Soellner, M Alders, M Begemann, M Begemann, M Constancia, M Elliott, M Kagami, Marcel Mannens, Matthias Begemann, MR DeBaun, P Monnier, Pablo Lapunzina, Paolo Lombardi, Rosanna Weksberg, S Azzi, S Azzi, S Bruce, S Kaltenbach, S Mulchandani, S Richards, S Schoenfelder, S Spengler, Silvia Russo, T Eggermann, T Eggermann, T Eggermann, T Eggermann, T Takenouchi, Thalia Antoniadi, Thomas Eggermann, Thomas Eggermann, Thomas Eggermann, Thomas Eggermann, W Abi Habib, WW Lam, X Cai, Y Ioannides, Zeynep Tümer   +78 more
core   +6 more sources

Uniparental Disomy and Imprinting Disorders [PDF]

OBM Genetics, 2018
Uniparental disomy (UPD), the inheritance of both homologues of a chromosome from only one parent, has been reported for nearly all human chromosomes.
T. Eggermann, D. Mackay, Z. Tümer
semanticscholar   +3 more sources

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci [PDF]

Clinical Epigenetics, 2015
Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner.
T. Eggermann, G. Perez de Nanclares, E. Maher, I. Temple, Z. Tümer, D. Monk, D. Mackay, K. Grønskov, A. Riccio, A. Linglart, I. Netchine   +10 more
semanticscholar   +16 more sources

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans. [PDF]

Nat Commun, 2015
Human-imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of parent of origin-specific DNA methylation at imprinted loci across the genome.
Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ.   +20 more
europepmc   +2 more sources