Results 41 to 50 of about 224,806 (164)
Molecular Cytogenetics, 2009 Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15.
Liu Dahai +6 more
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Disorders caused by chromosome abnormalities
The Application of Clinical Genetics, 2010 Many human genetic disorders result from unbalanced chromosome abnormalities, in which there is a net gain or loss of genetic material. Such imbalances often disrupt large numbers of dosage-sensitive, developmentally important genes and result in specific and complex phenotypes.
Shaffer, Lisa, Theisen,Aaron
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Frontiers in Genetics, 2019 Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI-escaping gene SHOX regulation is unclear.
Yixi Sun +21 more
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International Journal of Medical Students, 2022 The phenotype of structural chromosome 18 mutations is heterogenous, the clinical manifestations may range from mild to severe, they have been widely studied in the literature, however, there are few cases where two or more mutations are present in the ...
Manuel Alejandro Vásquez Salguero +1 more
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Mouse models of aneuploidy to understand chromosome disorders. [PDF]
Mamm Genome, 2022 Tosh J, Tybulewicz V, Fisher EMC.
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The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes. [PDF]
J Assist Reprod Genet, 2022 Martel RA, Blakemore JK, Fino ME.
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Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders
Brain Sciences, 2018 Males and females sometimes significantly differ in their propensity to develop neurological disorders. Females suffer more from mood disorders such as depression and anxiety, whereas males are more susceptible to deficits in the dopamine system ...
Paulo Pinares-Garcia +4 more
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Animal Models of Psychiatric Disorders That Reflect Human Copy Number Variation
Neural Plasticity, 2012 The development of genetic technologies has led to the identification of several copy number variations (CNVs) in the human genome. Genome rearrangements affect dosage-sensitive gene expression in normal brain development.
Jun Nomura, Toru Takumi
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Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function
Endocrine Connections, 2017 Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with ...
Rossella Cannarella +6 more
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Epigenetics and autoimmune diseases: The X chromosome-nucleolus nexus
Frontiers in Genetics, 2015 Autoimmune diseases occur more often in females, suggesting a key role for the X chromosome. X chromosome inactivation, a major epigenetic feature in female cells that provides dosage compensation of X-linked genes to avoid overexpression, presents ...
Wesley H. Brooks +2 more
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