VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia
Molecular Cytogenetics, 2018 Background VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have ...
Ivan Y. Iourov +3 more
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A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
BMC Medical Genomics, 2021 Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders.
Rosaria Nardello +5 more
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Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
, 2015 Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J +13 more
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Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. [PDF]
, 2014 BackgroundAutism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood.
Cantor, Rita M +5 more
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The Relationship between Skewed X-chromosome Inactivation and Neurological Disorders Development
International Clinical Neuroscience Journal, 2016 X-chromosome inactivation (XCI) is a process by which one of the copies of the X chromosome in mammalian female cells is inactivated. The XCI causes a balanced X-linked gene quantity between male and females; moreover, it results mosaic females which ...
Mahdi Taherian +3 more
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Alopecia areata: a multifactorial autoimmune condition [PDF]
, 2019 Alopecia areata is an autoimmune disease that results in non-scarring hair loss, and it is clinically characterised by small patches of baldness on the scalp and/or around the body. It can later progress to total loss of scalp hair (Alopecia totalis) and/
Butcher, John P. +3 more
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Alzheimer's disease and HIV associated dementia related genes: I. location and function. [PDF]
, 2008 Alzheimer's disease (AD), the most common cause of dementia, has few clinical similarities to HIV-1-associated dementia (HAD). However, genes were identified related among these dementias.
Chiappelli, Francesco +5 more
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Frontiers in Genetics, 2019 Structural chromosome abnormalities, such as translocations and inversions occasionally occur in all livestock species and are typically associated with reproductive and developmental disorders.
Malorie P. Baily +4 more
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Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation [PDF]
, 2015 The identification of chromosomal rearrangements is of utmost importance for the diagnosis and classification of specific leukaemia subtypes and therefore has an impact on therapy choices in individual cases.
Federico, C +4 more
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Neurodevelopmental Disorders Associated with Chromosome 15 [PDF]
, 2011 Chromosome 15 is a focus of increasing interest to both psychiatry and neurology. Several neurodevelopmental disorders are genetically associated with this autosome, including Prader-Willi syndrome, Angelman syndrome, Dyslexia, Autism, Hyperlexia, Ring ...
Sieg, M.D., Karl G.
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