Results 71 to 80 of about 1,853,756 (208)

A comprehensive and universal approach for embryo testing in patients with different genetic disorders

Clinical and Translational Medicine, 2021
Background In vitro fertilization (IVF) with preimplantation genetic testing (PGT) has markedly improved clinical pregnancy outcomes for carriers of gene mutations or chromosomal structural rearrangements by the selection of embryos free of disease ...
Shuo Zhang, Caixia Lei, Junping Wu, Min Xiao, Jing Zhou, Saijuan Zhu, Jing Fu, Daru Lu, Xiaoxi Sun, Congjian Xu   +9 more
doaj   +1 more source

Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes [PDF]

, 1988
Chromosome aberrations in two glioma cell lines were analyzed using biotinylated DNA library probes that specifically decorate chromosomes 1, 4, 7, 18 and 22 from pter to qter.
Cremer, Thomas, Manuelidis, L., Lichter, Peter, Borden, J., Ward, D. C.   +4 more
core   +1 more source

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, Paracchini, Silvia; id_orcid   +79 more
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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

Chromosome-wise distribution of SNP markers.

, 2022
Chromosome-wise distribution of SNP markers.
Mukhlesur Rahman (2248396), Ahasanul Hoque (9244156), Jayanta Roy (3001521)   +2 more
core   +1 more source

Marcadores ultrasonográficos como signos predictivos de cromosomopatías en el período fetal precoz

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Fundamento: los estudios ecográficos se utilizan en el diagnóstico fetal precoz. Mediante marcadores ultrasonográficos se puede determinar un número importante de defectos congénitos.Objetivo: describir la utilidad de los marcadores ultrasonográficos en ...
Sandor Varela Iraola, Kenia Pérez de Zayas, Héctor Ignacio Pimentel Benítez, Maby Cruz Morales, Miosotis de Lourdes Fernández Lastre   +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

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

Developmental trajectories in genetic disorders

, 2011
Book synopsis: This special issue is among the first volumes to examine the topic of early development in children with neurogenetic disorders associated with intellectual disability.
Thomas, Michael S.C., Knowland, V.C.P., Victoria C.P. Knowland, Michael S.C. Thomas   +3 more
core   +1 more source