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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
doaj
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
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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Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources
Translational Psychiatry, 2012 The striking excess of affected males in autism spectrum disorders (ASD) suggests that genes located on chromosome X contribute to the etiology of these disorders.
C. Nava +32 more
semanticscholar +1 more source
Current trends in single‐cell RNA sequencing applications in diabetes mellitus
FEBS Open Bio, EarlyView.Single‐cell RNA sequencing is a powerful approach to decipher the cellular and molecular landscape at a single‐cell resolution. The rapid development of this technology has led to a wide range of applications, including the detection of cellular and molecular mechanisms and the identification and introduction of novel potential diagnostic and ...
Seyed Sajjad Zadian +6 more
wiley +1 more source
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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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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Reports, 2023 The chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction.
Federica Saia +4 more
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FEBS Open Bio, EarlyView.Sphingoid base structures, the sphingolipid backbones, vary among species. We established yeast cells in which the native sphingoid base was replaced with plant‐type bases containing cis or trans double bonds. This is, to our knowledge, the first eukaryotic model mostly composed of sphingolipids containing cis‐unsaturated sphingoid base, providing a ...
Takashi Higuchi +5 more
wiley +1 more source