Indian Journal of Endocrinology and Metabolism, 2012 Introduction: Silver-Russell syndrome (SRS) is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body.
Namburi Rajendra Prasad +4 more
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Синдром Сильвера - Рассела у ребенка двух лет: клинический случай из практики [PDF]
, 2016 Представлены результаты клинического наблюдения ребенка в возрасте 2 лет жизни, страдающего редким генетическим заболеванием - синдромом Сильвера ...
Крючкова, Т. А. +1 more
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Evolution of imprinting: imprinted gene function in human disease [online encyclopaedia contribution] [PDF]
, 2008 A subset of genes in mammals, known as imprinted genes, show a conditional expression strategy in which transcription depends on an allele’s parental origin.
Dickins, BJA, Kelsey, G
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SILVER-RUSSELL SYNDROME IN COMBINATION WITH INFANTILE CEREBRAL PALSY: CLINICAL OBSERVATION
Медицина в КузбассеA case of combination a rare genetic pathology – Silver-Russell syndrome – with cerebral palsy in three-year-old child is described. The cause of this syndrome is loss of chromosome’s 11p15 (11p15LOM) methylation, maternal uni-parental disomy of ...
Нина Геннадьевна Коновалова +3 more
doaj
Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
Clinical Epigenetics, 2018 Background Loss of paternal methylation (LOM) of the H19/IGF2 intergenic differentially methylated region (H19/IGF2:IG-DMR) causes alteration of H19/IGF2 imprinting and Silver-Russell syndrome (SRS).
Angela Sparago +2 more
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Wachstumsstörungen als Leitsymptom [PDF]
, 2018 Zusammenfassung: Kleinwuchs als Leitsymptom stellt eine häufige Fragestellung sowohl in der humangenetischen als auch in der pädiatrischen Sprechstunde dar. Definiert ist Kleinwuchs als eine Körperhöhe unter der 3.Perzentile der Norm bzw.
Rauch, A., Thiel, C.
core
Novel DNA methylation profiles associated with key gene regulation and transcription pathways in blood and placenta of growth-restricted neonates [PDF]
, 2014 BB/H012494/1/ Biotechnology and Biological Sciences Research ...
Barg E +10 more
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Genetics of Growth Disorders-Which Patients Require Genetic Testing? [PDF]
, 2019 The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in
Argente, J +3 more
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Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b
, 2014 Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. The cluster contains multiple imprinted transcripts, including the stimulatory G protein α subunit (Gs-α) and NESP55 ...
Mackay, Deborah J.G. +5 more
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Limb lengthening in children with Russell–Silver syndrome: A comparison to other etiologies
Journal of Children's Orthopaedics, 2013 Introduction/background Russell–Silver syndrome (RSS) is the combination of intrauterine growth retardation, difficulty feeding, and postnatal growth retardation. Leg length discrepancy (LLD) is one of four major diagnostic criteria of RSS and is present
V. Goldman +4 more
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