Silver-Russell syndrome: genetic basis and molecular genetic testing
T Eggermann, M Begemann, G Binder… - Orphanet journal of rare …, 2010 - Springer
Imprinted genes with a parent-of-origin specific expression are involved in various aspects
of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so …
of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so …
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth …
RH Scott, J Douglas, L Baskcomb, AO Nygren… - Journal of Medical …, 2008 - jmg.bmj.com
Background: A variety of abnormalities have been demonstrated at chromosome 11p15 in
individuals with overgrowth and growth retardation. The identification of these abnormalities …
individuals with overgrowth and growth retardation. The identification of these abnormalities …
Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions
J Bliek, S Snijder, SM Maas, A Polstra… - European journal of …, 2009 - Elsevier
We report on two families in which the parental origin of duplications of the BWS imprinted
regions on chromosome 11p15 influences the phenotype. In family A the transmission of at …
regions on chromosome 11p15 influences the phenotype. In family A the transmission of at …
[HTML][HTML] Close yet so far away: a look into the management strategies of genetic imprinting disorders
MA Pianka, AT McIntosh, SD Patel… - American Journal of …, 2018 - ncbi.nlm.nih.gov
Genetic imprinting is the process of epigenetic labelling or silencing of particular genes,
based on the maternal or paternal origin of the gene, in a heritable pattern. The incidence of …
based on the maternal or paternal origin of the gene, in a heritable pattern. The incidence of …
Methylation-specific MLPA (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
RH Scott, J Douglas, L Baskcomb, AO Nygren… - Journal of Medical …, 2007 - jmg.bmj.com
Background: A variety of abnormalities have been demonstrated at chromosome 11p15 in
individuals with overgrowth and growth retardation. The identification of these abnormalities …
individuals with overgrowth and growth retardation. The identification of these abnormalities …
[HTML][HTML] Methylation Status of H19/IGF2 Differentially Methylated Region in in vitro Human Blastocysts Donated by Healthy Couples
M Derakhshan-Horeh, F Abolhassani… - Iranian Biomedical …, 2017 - ncbi.nlm.nih.gov
Background: Imprinted genes are a unique subset of few genes that have been differentially
methylated region (DMR) in a parental origin-dependent manner during gametogenesis …
methylated region (DMR) in a parental origin-dependent manner during gametogenesis …
[BOOK][B] Aberrant genomic imprinting in chromosome 11p15-associated congenital growth disorders: consequences for DNA-diagnostics
HJ Bliek - 2009 - dare.uva.nl
The H19 differentially methylated region (DMR) controls the allele-specific expression of
both the imprinted H19 tumor-suppressor gene and the IGF2 growth factor …
both the imprinted H19 tumor-suppressor gene and the IGF2 growth factor …