Results 31 to 40 of about 224,806 (164)
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 +9 more
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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
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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 +4 more
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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 +4 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
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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 +4 more
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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
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X chromosome inactivation, X-linked disorders, and cancer
Frontiers in GeneticsX chromosome inactivation is an essential process that compensates for gene dosage differences between men and women. During early embryogenesis, one of the two X chromosomes in females is randomly selected for transcriptional silencing, inactivating ...
Consuelo Salas-Labadía +6 more
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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.
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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 +4 more
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