نتایج جستجو برای: chromosomal disorders
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Introduction: Pregnancy and health is the process in which the egg is fertilized and being able to survive. When pregnancy occurs under some conditions and the fetus is being at risk, it will lead to abortion that occurs involuntarily and spontaneously. Abortions that occur more than two or three times are called recurrent pregnancy loss (RPL). Various etiological factors involved in RPL, inclu...
We developed several novel tools to genome wide screen for CNVs and SNPs in single cells. When applied to cleavage stage embryos from young fertile couples we discovered, unexpectedly, an extremely high incidence of chromosomal instability, a hallmark of tumorigenesis (Vanneste et al., Nature Medicine, 2009; Vanneste et al., Hum.Reprod., 2011). Not only mosaicisms for whole chromosome aneuploid...
Childhood-onset psychiatric disorders, such as attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), mood disorders, obsessive compulsive spectrum disorders (OCSD), and schizophrenia (SZ), affect many school-age children, leading to a lower quality of life, including difficulties in school and personal relationships that persist into adulthood. Currently, the causes o...
H ereditary ataxia is a clinically and genetically heterogenous group of disorders. Most are progressive and associated with other neurological abnormalities. Early onset, non-progressive cerebellar ataxia (OMIM #117360) has been described as a dominantly inherited disorder associated with isolated vermal atrophy or generalised atrophy of the cerebellum. 5 This is a rare entity compared with au...
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