Results 91 to 100 of about 1,853,756 (208)

Genetics of autistic disorders : review and clinical implications [PDF]

, 2009
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy ...
Klauck, Sabine M., Duketis, Eftichia, Wouter Staal, Sabine M. Klauck, Christine M. Freitag, Regina Waltes, Freitag, Christine M., Staal, Wouter, Waltes, Regina, Eftichia Duketis   +9 more
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Prenatal Diagnosis of a Fetus with Partial Duplication and Deletion of Chromosome 18 Due to Maternal Pericentric Inversion 18

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, Wilmar Saldarriaga Gil   +1 more
doaj  

"Give me a name for what is wrong with him" : a case study of a rare chromosome disorder [PDF]

, 2006
The case is presented of a young boy with a rare chromosome disorder involving an interstitial deletion on chromosome 16 (16q11.2q13). Background information on chromosome disorders is presented along with a review of previous findings about the ...
Gilmore, Linda, Campbell, Marilyn
core  

The radial arrangement of the human chromosome 7 in the lymphocyte cell nucleus is associated with chromosomal band gene density [PDF]

, 2008
This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ Springer-Verlag 2008.In the nuclei of human lymphocytes, chromosome territories are distributed according to the average gene density of ...
Federico, C, Tosi, S, Cantarella, CD, Saccone, S, Di Mare, P, TOSI S, SACCONE, Salvatore, DI MARE P, CANTARELLA CD, FEDERICO, CONCETTA   +9 more
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Chromosome 21: a small land of fascinating disorders with unknown pathophysiology

, 2002
In the year 2000 we celebrated the sequencing of the entire long arm of human chromosome 21. This achievement now provides unprecedented opportunities to understand the molecular pathophysiology of trisomy 21, elucidate the mechanisms of all monogenic ...
Reymond, Alexandre, Deutsch, Samuel, Antonarakis, Stylianos, Lyle, Robert   +3 more
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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, Marielle Stratikopoulos, Alice Zagato, Hannah Loke, Joohyung Lee   +4 more
doaj   +1 more source

A model system for study of sex chromosome effects on sexually dimorphic neural and behavioral traits [PDF]

, 2002
We tested the hypothesis that genes encoded on the sex chromosomes play a direct role in sexual differentiation of brain and behavior. We used mice in which the testis-determining gene (Sry) was moved from the Y chromosome to an autosome (by deletion of ...
Robin Lovell-Badge, De Vries, Geert, Auger, CJ, Lovell-Badge, R, Catherine J. Auger, Elka M. Scordalakes, Swain, A, Simerly, Richard B., Lovell-Badge, Robin, Richard B. Simerly, Amanda Swain, Arnold, Arthur P., Simerly, RB, Burgoyne, PS, Scordalakes, Elka M., Emilie F. Rissman, Geert J. De Vries, Liang-Yo Yang, Burgoyne, Paul S., Yang, Liang-Yo, Yang, L-Y, Rissman, EF, Rissman, Emilie F., Paul S. Burgoyne, De Vries, G, Arnold, AP, Arthur P. Arnold, Scordalakes, EM, Swain, Amanda, Auger, Catherine J.   +29 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
doaj   +1 more source

Role of sex in immune response and epigenetic mechanisms

Epigenetics & Chromatin
The functioning of the human immune system is highly dependent on the sex of the individual, which comes by virtue of sex chromosomes and hormonal differences. Epigenetic mechanisms such as X chromosome inactivation, mosaicism, skewing, and dimorphism in
Sombodhi Bhattacharya, Debasmita Sadhukhan, Radha Saraswathy   +2 more
doaj   +1 more source

Chromosome-Numbers in Bromeliaceae

, 1986
Meeting abstract of "Chromosome numbers in Bromeliaceae" in American Journal of Botany, 1986, presented at the Annual Meetings of the Botanical Society of ...
Gregory K. Brown (2517214), A. J. Gilmartin (10059460)   +1 more
core   +1 more source