Results 31 to 40 of about 236,633 (310)
Chromosomal disorders and male infertility [PDF]
Asian Journal of Andrology, 2011 Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified.
Harton, Gary L. +1 more
openaire +3 more sources
iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes
PLoS ONE, 2022 Trisomy 21, 18, and 13 are the major autosomal aneuploidy disorders in humans. They are mostly derived from chromosome non-disjunction in maternal meiosis, and the extra trisomic chromosome can cause several congenital malformations. Various genes on the
Silvia Natsuko Akutsu +6 more
doaj +2 more sources
A CASE OF DELETION OF CHROMOSOME 14q23.3 [PDF]
Euromediterranean Biomedical Journal, 2012 An interstitial deletion of the region q23.3 of chromosome 14 is described in a young male patient with epilepsy, mental retardation, behavioural disorders and severe impairments in social interaction and communication.
Nadia Imbrigiotta
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Frontiers in Cell and Developmental Biology, 2023 Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of diseases.
Laura Pignata +13 more
doaj +1 more source
Chromosome Evolution in New World Monkeys (Platyrrhini) [PDF]
, 2012 During the last decades, New World monkey (NWM, Platyrrhini, Anthropoideae) comparative cytogenetics has shed light on many fundamental aspects of genome organisation and evolution in this fascinating, but also highly endangered group of neotropical ...
Müller, Stefan +2 more
core +1 more source
On the mechanisms of the occurrence of autism spectrum disorders: a family case report
Аутизм и нарушение развития, 2020 Currently, more than 1000 genes described in which mutations are observed in autism spectrum disorders. Neurobiological predictors have been found to presume these abnormalities in early postnatal ontogenesis.
S.A. Tyushkevich +5 more
doaj +1 more source
XYY syndrome: a 13-year-old boy with tall stature [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2015 When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan ...
Won Ha Jo +6 more
doaj +1 more source
Journal of Medical SciencesTrisomy 13 syndrome is a lethal chromosomal disorder characterized by severe congenital anomalies. We report a case of trisomy 13 syndrome with semilobar holoprosencephaly, cyclopia, proboscis, omphalocele, and an absent nasal bone, prenatally diagnosed ...
Tzu-Rong Liu, Yi-An Kuo, Chi-Kang Lin
doaj +1 more source
Global patterns in human mitochondrial DNA and Y-chromosome variation caused by spatial instability of the local cultural processes [PDF]
, 2006 Because of the widespread phenomenon of patrilocality, it is hypothesized that Y-chromosome variants tend to be more localized geographically than those of mitochondrial DNA ( mtDNA).
Reddy, B. Mohan +28 more
core +1 more source
Molecular Cytogenetics, 2019 Background This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant ...
Zhengyou Miao +5 more
doaj +1 more source