Results 31 to 40 of about 11,144,186 (305)

PRENATAL DIAGNOSIS [PDF]

open access: yesRomanian Journal of Pediatrics, 2009
Another reproductive option that is now available is prenatal diagnosis. By utilizing increasingly sophisticated technology, many congenital malformations and genetic defects can now be diagnosed prior to twenty weeks of pregnancy. The authors present:
Valeriu Popescu, Andrei Zamfirescu
doaj   +1 more source

An assessment of opportunities to dissect host genetic variation in resistance to infectious diseases in livestock [PDF]

open access: yes, 2009
This paper reviews the evidence for host genetic variation in resistance to infectious diseases for a wide variety of diseases of economic importance in poultry, cattle, pig, sheep and Atlantic salmon.
S. Genini   +7 more
core   +1 more source

Effects of selection and mutation on epidemiology of X-linked genetic diseases

open access: yesMathematical Biosciences and Engineering, 2017
The epidemiology of X-linked recessive diseases, a class of genetic disorders, is modeled with a discrete-time, structured, non linear mathematical system. The model accounts for both de novo mutations (i.e., affected sibling born to unaffected parents) and selection (i.e., distinct fitness rates depending on individual's health conditions).
Verrilli, Francesca   +7 more
openaire   +6 more sources

Genetic analysis of candidate genes linked to atopic eczema in the Bangladeshi population of East London [PDF]

open access: yes, 2010
PhDBackground: Atopic Eczema (AE) is a common skin disease that results from a complex interplay between genetic and environmental factors. It may be associated with other atopic phenotypes including; asthma, hayfever and food allergy.
Al Kuwaiti, Rauda
core   +4 more sources

Zebrafish Models of Autosomal Dominant Ataxias

open access: yesCells, 2021
Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination.
Ana Quelle-Regaldie   +4 more
doaj   +1 more source

Evolutionary strata on the X chromosomes of the dioecious plant Silene latifolia: Evidence from new sex-linked genes [PDF]

open access: yes, 2007
Despite its recent evolutionary origin, the sex chromosome system of the plant Silene latifolia shows signs of progressive suppression of recombination having created evolutionary strata of different X-Y divergence on sex chromosomes. However, even after
Bergero, Roberta   +3 more
core   +1 more source

IDENTIFICATION OF GENETIC DEFECTS IN X-LINKED MENTAL RETARDATION [PDF]

open access: yes, 2010
Backgrounds: X-linked mental retardation (XLMR) has been the focus of MR research because of 40% excess of males with MR. Genetic defects are estimated to account for 50% MR cases.
Fitri, Aditia Retno
core   +1 more source

ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene

open access: yesComputational and Structural Biotechnology Journal, 2020
ATP7A is a critical copper transporter involved in Menkes Disease, Occipital horn Syndrome and X-linked distal spinal muscular atrophy type 3 which are X linked genetic disorders.
Aditi Mhaske   +7 more
doaj   +1 more source

Long noncoding RNA XIST: Mechanisms for X chromosome inactivation, roles in sex-biased diseases, and therapeutic opportunities

open access: yesGenes and Diseases, 2022
Sexual dimorphism has been reported in various human diseases including autoimmune diseases, neurological diseases, pulmonary arterial hypertension, and some types of cancers, although the underlying mechanisms remain poorly understood.
Jianjian Li   +5 more
doaj   +1 more source

Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males

open access: yesHaematologica, 2007
All males in two generations of a Hungarian family died of interstitial pneumonia. History and records suggested X-linked hyper-IgM syndrome (X-HIGM). DNA sequencing of a female carrier revealed a c.
Melinda Erdos   +2 more
doaj   +1 more source

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