Results 71 to 80 of about 236,633 (310)

The spectrum and prevalence of genetic pathology among children and adolescents of the northern districts of kharkiv region

Актуальні проблеми сучасної медицини, 2019
The spectrum and prevalence of genetic pathology among the population of a certain region are determined by the founder effect and microevolution factors and, therefore, are not always comparable in different countries.
Olena Fedota, Iurii Sadovnychenko, Mykola Hryshchenko, Kostiantyn Tyshchenko, Yana Hryshchenko
doaj  

A novel analytical framework for dissecting the genetic architecture of behavioral symptoms in neuropsychiatric disorders. [PDF]

PLoS ONE, 2010
For diagnosis of neuropsychiatric disorders, a categorical classification system is often utilized as a simple way for conceptualizing an often complex clinical picture.
Anthony J Deo, Ramiro Costa, Lynn E DeLisi, Rob DeSalle, Fatemeh Haghighi   +4 more
doaj   +1 more source

Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment [PDF]

, 2014
Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of SLI which included parent-of-origin effects and child ...
Newbury, Dianne F, Bolton, Patrick F, A. O'Hare, Paracchini, S., Fisher, S E, Hennessy, E. R., Monaco, Anthony P, Simpson, N., Fisher, S. E., S. E. Fisher, Simpson, N H, Ring, S M, O'Hare, A., N. H. Simpson, Newbury, D., S. Paracchini, Bolton, P F, Ring, SM, Nudel, R, Smith, G D, Smith, G., Monaco, AP, P. F. Bolton, Simpson, N. H., Smith, George Davey, O'Hare, Anne, O'Hare, A, ?, ?, Hennessy, ER, E. R. Hennessy, G. Baird, Conti-Ramsden, G., Nudel, Ron, Francks, Clyde, O’Hare, A., S. M. Ring, Monaco, A., Paracchini, Silvia, Simpson, Nuala H, Nudel, R., Bolton, PF, Baird, Gillian, D. F. Newbury, Newbury, D F, Bolton, P. F., Hennessy, E., C. Francks, Newbury, D. F., Baird, G., The SLli consortium, Smith, G. Davey, G. Conti‐Ramsden, SLI Consortium, Fisher, Simon E, Cohen, Wendy, Ring, Susan M, Davey Smith, G, R. Nudel, Baird, G, Fisher, S., Bolton, P., The SLI Consortium, Fisher, SE, Conti-Ramsden, G, Simpson, NH, Conti-Ramsden, Gina, Francks, C., Monaco, A. P., Hennessy, Elizabeth R, A. P. Monaco, Paracchini, S, Francks, C, Monaco, A P, The SLI Consortium (includes Wendy Cohen), Ring, S. M., Newbury, DF, Ring, S., G. Davey Smith, Hennessy, E R   +78 more
core   +1 more source

Development of human monoclonal antibodies against TARM1 by yeast display

FEBS Open Bio, EarlyView.
Human monoclonal antibodies against TARM1 are generated by yeast display‐guided selection. These antibodies bind to soluble and cell‐surface forms of TARM1. Also, these antibodies exhibit agonistic activity in the NFAT‐GFP reporter assay, indicating that TARM1 signaling can be functionally modulated by antibodies and suggesting TARM1 as a potential ...
Rikio Yabe, Mayumi Saeki, Masaaki Hashiguchi, Sayaka Ono, Kazuhisa Aoki, Hidetaka Tanno   +5 more
wiley   +1 more source

Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
Background: infertility is a clinical problem with a significant social medical impact on the health of the couple. It is considered that 36 % of the genetic causes of infertility are caused by chromosomal aberrations.Objective: to describe the results ...
Enelis Reyes Reyes, Nora María Orive Rodríguez, Glenys Katiuska Silva González, Lisset Romero Portelles, Ivette Díaz Plá   +4 more
doaj  

A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia

Case Reports in Endocrinology, 2013
Disorders of sex development (DSD), formerly termed “intersex” conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD.
Lei Zhang, Linda D. Cooley, Sonal R. Chandratre, Atif Ahmed, Jill D. Jacobson   +4 more
doaj   +1 more source

Pre-implantation Genetic Testing for Aneuploidy (PGT-A)

Thai Journal of Obstetrics and Gynaecology, 2020
Preimplantation genetic diagnosis (PGD) or embryo selection was first performed in 1989 using PCR for gender selection to avoid X-linked recessive disorder. However, there was a misdiagnosis due to allele drop out (ADO). Therefore, fluorescent in situ
Wirawit Piyamongkol
doaj   +1 more source

Cancer risk in patients with constitutional chromosome deletions: a nationwide British cohort study [PDF]

, 2008
The finding of increased risks of specific cancers in individuals with constitutional deletions of chromosomes 11p and 13q led to the discovery of cancer predisposition genes at these locations, but there have been no systematic studies of cancer risks ...
Schoemaker, MJ, Jacobs, P.A., Swerdlow, AJ, P A Jacobs, Schoemaker, M.J., Schoemaker, M J, Wright, A F, A F Wright, Wright, AF, A J Swerdlow, Higgins, C.D., Wright, A.F., Swerdlow, A.J., Jacobs, PA, Jacobs, P A, Swerdlow, A J, C D Higgins, Higgins, C D, Higgins, CD, M J Schoemaker   +19 more
core   +1 more source

Identifying transcription factors controlling the basal expression of human MRP4 highlights a substantial role for Sp1

FEBS Open Bio, EarlyView.
The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer, Angelique Kragl, Katrin Ziems, Juliane Glaubitz, Sophie Grammbauer, Susanne Hildebrandt, Mladen V. Tzvetkov, Gabriele Jedlitschky   +7 more
wiley   +1 more source

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13

Neurobiology of Disease, 2010
Human chromosome 15q11–q13 is subject to regulation by genomic imprinting, an epigenetic process by which genes are expressed in a parent-of-origin specific manner.
Stormy J. Chamberlain, Marc Lalande
doaj   +1 more source