Results 241 to 250 of about 18,499 (269)

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

Human Reproduction, 2012
BACKGROUND There is an increased incidence of rare imprinting disorders associated with assisted reproduction technologies (ARTs). The identification of epigenetic changes at imprinted loci in ART infants has led to the suggestion that the techniques ...
Hitoshi Hiura, Hiroaki Okae, Naoko Miyauchi   +2 more
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Imprinted disorders and growth

Annales d'Endocrinologie, 2017
Fetal growth is a complex process. Its restriction is associated with morbidity and long-term metabolic consequences. Imprinted genes have a critical role in mammalian fetal growth. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders with opposite fetal growth disturbance.
Giabicani, Eloïse, Brioude, Frédéric, Le Bouc, Yves, Netchine, Irène   +3 more
openaire   +3 more sources

Sleep disorders in imprinting disorders

S.S. Korsakov Journal of Neurology and Psychiatry
A literature review of the current state of the etiology and pathogenesis of genomic imprinting disorders such as Angelman syndrome and Prader—Willi syndrome was performed. The mechanisms of the development of sleep disorders associated with these syndromes related to impaired expression of specific genes are considered in detail.
E.M. Ivannikova, T.Yu. Degtyarevskaya, N.N. Tarasova, E.A. Tinyatov, A.N. Magomedova, K.A. Magomedova   +5 more
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GENOMIC IMPRINTING IN DISORDERS OF GROWTH

Endocrinology and Metabolism Clinics of North America, 1996
This review has briefly considered some of the vast amount of information that has been gathered on genomic imprinting and its role in PWS, AS, BWS and Russell-Silver syndrome. The pace of investigation into the phenomenon of imprinting will undoubtedly continue, because our understanding remains far from complete.
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Genomic imprinting and genetic disorders in man

Trends in Genetics, 1989
In a considerable number of genetic disorders in the human, the phenotypic expression of the disease can depend on maternal or paternal inheritance of the mutation. It is suggested that genomic imprinting, an epigenetic process that marks maternal and paternal chromosomes in mammals, is involved in such parental effects.
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Uniparental Disomy and Disorders of Imprinting

2018
Abstract Uniparental disomy (UPD) is a fascinating pathogenetic mechanism, albeit that it is applicable only to a small but important number of conditions. This chapter discusses the basis of UPD and the different mechanisms by which it may arise. It reviews the concept of epigenetics in this setting.
R. J McKinlay Gardner, David J Amor
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Uniparental Disomy and Disorders of Imprinting

2011
Abstract UNIPARENTAL DISOMY IS A FASCINATING and important pathogenetic mechanism, albeit that it is the basis of only a small number of well-defined clinical conditions. At the outset, we may list these seven major syndromes: Prader-Willi syndromeAngelman syndromeBeckwith-Wiedemann syndromeSilver-Russell ...
R. J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer   +2 more
openaire   +1 more source

Imprinting Disorders of Early Childhood

2011
Imprinted genes are exceptional in that one allele is silenced (imprinted) in a parent of origin specific manner, making the two parental alleles functionally different. Imprinted genes are known to play a vital role in fetal growth and normal metabolism and most of the medical conditions caused by aberrant imprinting result in problems with growth ...
I. Karen Temple, Jill Clayton-Smith, Deborah J. G. Mackay   +2 more
openaire   +1 more source

Anticipation and imprinting in Japanese familial mood disorders

Psychiatry Research, 1998
Several reports have suggested the presence of anticipation and imprinting in Caucasian families with either unipolar or bipolar affective disorders. In practice, families consisting of subjects with bipolar and unipolar affective disorders are common, whereas unipolar cases were not included in the analysis because of their uncertain diagnostic status.
K, Ohara, Y, Suzuki, Y, Ushimi, K, Yoshida, K, Ohara   +4 more
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Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders

Journal of Bone and Mineral Research
Abstract Pseudohypoparathyroidism (PHP) was first described as a syndrome characterized by PTH resistance combined with skeletal abnormalities known as Albright’s hereditary osteodystrophy (AHO). Studies have since focused on genetic or epigenetic alterations underlying PHP and related disorders.
Yorihiro Iwasaki, Murat Bastepe
openaire   +2 more sources