Results 11 to 20 of about 3,137,340 (284)

Imprinting disorders in humans: a review. [PDF]

Curr Opin Pediatr, 2020
Purpose of review Mammals have two complete sets of chromosomes, one from each parent with equal autosomal gene expression. Less than one percentage of human genes are imprinted or show expression from only one parent without changing gene structure ...
Butler MG.
europepmc   +5 more sources

Recent Advances in Imprinting Disorders. [PDF]

Clinical Genetics, 2016
Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism.
Begemann, M, Eggermann, T, Grønskov, K, Linglart, A, Mackay, DJG, Maher, ER, Monk, D, Netchine, I, Riccio, A, Soellner, L, Temple, IK, Tümer, Z   +11 more
core   +8 more sources

Multilocus methylation defects in imprinting disorders

Biomolecular Concepts, 2015
Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. In imprinted genes, the expression of the allele is dependent upon its parental
Mackay Deborah J.G., Eggermann Thomas, Buiting Karin, Garin Intza, Netchine Irène, Linglart Agnès, de Nanclares Guiomar Perez   +6 more
doaj   +6 more sources

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.

JAMA Netw Open, 2022
Key Points Question Is newborn screening feasible for chromosome 15 imprinting disorders, including Prader-Willi, Angelman, and Dup15q syndromes, using SNRPN methylation analysis?
Godler DE, Ling L, Gamage D, Baker EK, Bui M, Field MJ, Rogers C, Butler MG, Murgia A, Leonardi E, Polli R, Schwartz CE, Skinner CD, Alliende AM, Santa Maria L, Pitt J, Greaves R, Francis D, Oertel R, Wang M, Simons C, Amor DJ.   +21 more
europepmc   +2 more sources

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders. [PDF]

Transl Psychiatry, 2020
Chromosome 15 (C15) imprinting disorders including Prader–Willi (PWS), Angelman (AS) and chromosome 15 duplication (Dup15q) syndromes are severe neurodevelopmental disorders caused by abnormal expression of genes from the 15q11–q13 region, associated ...
Baker EK, Butler MG, Hartin SN, Ling L, Bui M, Francis D, Rogers C, Field MJ, Slee J, Gamage D, Amor DJ, Godler DE.   +11 more
europepmc   +2 more sources

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.

J Clin Endocrinol Metab, 2021
Background (Epi)genetic disorders associated with small-for-gestational-age with short stature (SGA-SS) include imprinting disorders (IDs). Silver-Russell syndrome (SRS) is a representative ID in SGA-SS and has heterogenous (epi)genetic causes.
Fuke T, Nakamura A, Inoue T, Kawashima S, Hara KI, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M.   +10 more
europepmc   +2 more sources

Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years. [PDF]

Clin Epigenetics, 2020
Backgrounds The proportion of assisted reproductive technology (ART)-conceived livebirths of patients with imprinting disorders (IDs) is higher than that of the general population.
Hara-Isono K, Matsubara K, Mikami M, Arima T, Ogata T, Fukami M, Kagami M.   +6 more
europepmc   +2 more sources

Imprinting disorders as a window to understand pediatric feeding disorders [PDF]

Orphanet Journal of Rare Diseases
Imprinting disorders are a group of rare congenital disorders characterized by common clinical features that affect growth, development, metabolism, and shared molecular abnormalities [1].
Juliette Salles, Thomas Gorse, Grégoire Benvegnu, Jean-Philippe Raynaud, Maithé Tauber   +4 more
doaj   +2 more sources

Prenatal testing for Imprinting Disorders: A clinical perspective

Prenatal Diagnosis, 2023
Imprinting Disorders (ImpDis) are a group of congenital conditions caused by aberrant imprinting resulting in disturbed expression of parentally imprinted genes.
A. Dufke, Thomas Eggermann, K. Kagan, M. Hoopmann, M. Elbracht   +4 more
semanticscholar   +4 more sources

Prenatal testing for imprinting disorders: A laboratory perspective

Prenatal Diagnosis, 2023
Imprinting Disorders (ImpDis) are a group of congenital syndromes associated with up to four different types of molecular disturbances affecting the monoallelic and parent‐of‐origin specific expression of genomically imprinted genes.
J. Beygo, S. Russo, P. Tannorella, G. Santen, A. Dufke, Elia Schlaich, Thomas Eggermann   +6 more
semanticscholar   +4 more sources