Syndromic Disorders Caused by Disturbed Human Imprinting
JCRPE, 2020 Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic imprinting, affecting prenatal and postnatal growth, neurocognitive development, metabolism and cancer predisposition.
Diana Carli +3 more
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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
BMC Medical Genetics, 2018 Background Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright’s hereditary osteodystrophy (AHO) phenotype, which is ...
Arrate Pereda +3 more
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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci [PDF]
Clinical Epigenetics, 2015 Published by BioMed Central, [S.l.]
Eggermann, Thomas +10 more
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Retinoblastoma makes its mark on imprinting in plants [PDF]
, 2008 Genomic imprinting results in the preferential expression of alleles from either the maternal or paternal chromosomes. This epigenetic process occurs in embryonic and extra-embryonic (placental) tissues of mammals, but only in the extra-embryonic ...
Gutierrez-Marcos, José F. +5 more
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Too large to fit? Recent developments in macromolecular imprinting. [PDF]
, 2008 Molecular imprinting involves the synthesis of polymers in the presence of a template to produce complementary binding sites with specific recognition ability.
Turner, Anthony P. F. +5 more
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Imprinting and cortical plasticity: A comparative review: a comparative review [PDF]
, 1983 Bischof H-J. Imprinting and cortical plasticity: A comparative review: a comparative review. Neuroscience and Biobehavioral Reviews. 1983;7(2):213-225.Results of research on imprinting and developmental neurobiology of the visual cortex are compared to ...
Bischof, Hans-Joachim
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Prenatal testing for imprinting disorders: A laboratory perspective
Prenatal Diagnosis, 2023 AbstractImprinting 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. Though each ImpDis is characterized by aberrations at a distinct genetic site and a specific set of postnatal ...
Jasmin Beygo +6 more
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Sexual imprinting in female zebra finches: changes in preferences as an effect of adult experience [PDF]
, 1996 Oetting S, Bischof H-J. Sexual imprinting in female zebra finches: changes in preferences as an effect of adult experience. Behaviour. 1996;133(5):387-397.It has been shown that sexual imprinting in male zebra finches can be seen as a two stage process ...
Oetting, Sabine, Bischof, Hans-Joachim
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Imprinting disorders and assisted reproductive technology [PDF]
Current Opinion in Endocrinology, Diabetes & Obesity, 2010 To summarize current evidence in the association of imprinting disorders and assisted reproductive technology.The worldwide usage of assisted reproductive technology (ART) has continued to increase since the first successful birth of a human after IVF. Since 2002, several reports have raised concerns that children conceived by ART are at increased risk
Lawrence N, Odom, James, Segars
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Prenatal testing for Imprinting Disorders: A clinical perspective
Prenatal Diagnosis, 2023 AbstractImprinting Disorders (ImpDis) are a group of congenital conditions caused by aberrant imprinting resulting in disturbed expression of parentally imprinted genes. ImpDis are rarely associated with major malformations, but pre‐ and/or postnatal growth and nutrition are often affected.
Andreas Dufke +4 more
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