Results 41 to 50 of about 3,786,126 (364)
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
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
doaj +1 more source
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
doaj +1 more source
A brief history of research on the genetics of alcohol and other drug use disorders. [PDF]
, 2014 ObjectiveThis article reviews developments in research on genetic influences on alcohol and other drug use and disorders over the past 7 decades.MethodThe author began with a review of the flow and content of articles published in the three iterations of
Schuckit, Marc A
core +2 more sources
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
core +2 more sources
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
doaj +1 more source
On a break with the X: the role of repair of double-stranded DNA breaks in X-linked disease [PDF]
, 2012 The problem of managing free reactive DNA ends in eukaryotic cells has resulted in the development of a number of mechanisms in order to ensure that free ends are rendered non-reactive, or that the double-strand DNA breaks generating the free ends are ...
Cecceroni, Lucia +2 more
core +3 more sources
Chromosomal abnormalities and mental disorders [PDF]
Postgraduate Medical Journal, 1972 THE almost constant concomitance of severe intellectual impairment with autosomal chromosome imbalance is well known. Mental defect is a more variable manifestation in the presence of sex chromosome anomalies. In both categories, however, the impairment of cognitive function has been the centre ofmuch attention.
openaire +3 more sources
Sex assignment in conditions affecting sex development [PDF]
, 2017 The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core +1 more source
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
doaj +1 more source