Fragile-X Syndrome
Methods and Protocols
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27 Result(s)
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Dalit Ben-Yosef
English
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Article
Open AccessIsoform-resolved transcriptome of the human preimplantation embryo
Human preimplantation development involves extensive remodeling of RNA expression and splicing. However, its transcriptome has been compiled using short-read sequencing data, which fails to capture most full-l...
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Article
Open AccessNew insights regarding origin of monosomy occurrence in early develo** embryos as demonstrated in preimplantation genetic testing
Analyses of miscarriage products indicate that the majority of aneuploidies in early develo** embryos derive from errors occurring during maternal meiosis and the paternal contribution is less than 10%. Our ...
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Article
Gonadotropin-Releasing Hormone Agonist Versus Recombinant Human Chorionic Gonadotropin Triggering in Fertility Preservation Cycles
The purpose of this research is to study the efficacy of GnRH-a versus r-hCG triggering in patients who go through fertility preservation cycles. This retrospective cohort study was performed in a tertiary uni...
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Article
Open AccessHeterozygous APC germline mutations impart predisposition to colorectal cancer
Familial adenomatous polyposis (FAP) is an inherited syndrome caused by a heterozygous adenomatous polyposis coli (APC) germline mutation, associated with a profound lifetime risk for colorectal cancer. While ...
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Chapter and Conference Paper
Developmental Stage Classification of Embryos Using Two-Stream Neural Network with Linear-Chain Conditional Random Field
The developmental process of embryos follows a monotonic order. An embryo can progressively cleave from one cell to multiple cells and finally transform to morula and blastocyst. For time-lapse videos of embry...
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Article
The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy
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Chapter and Conference Paper
Automated Measurements of Key Morphological Features of Human Embryos for IVF
A major challenge in clinical In-Vitro Fertilization (IVF) is selecting the highest quality embryo to transfer to the patient in the hopes of achieving a pregnancy. Time-lapse microscopy provides clinicians wi...
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Article
Time-lapse imaging reveals delayed development of embryos carrying unbalanced chromosomal translocations
The purpose of the study was to compare the morphokinetic parameters of embryos carrying balanced chromosomal translocations with those carrying unbalanced chromosomal translocations using time-lapse microscopy.
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Book
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Protocol
Imaging of Somatic Ca2+ Transients in Differentiated Human Neurons
Calcium is a major regulator of neuronal activity and calcium signaling is critically important for normal neuronal function. Ca imaging is a well-established tool for studying neuronal function and ongoing sp...
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Protocol
Modeling FXS: Human Pluripotent Stem Cells and In Vitro Neural Differentiation
In fragile X syndrome (FXS) embryos FMRP is widely expressed during early stages of embryogenesis however it is inactivated by the end of the first trimester. In the same manner, human embryonic stem cell (hES...
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Article
Complex chromosomal rearrangement—a lesson learned from PGS
The aim of the study is to report a case of non-diagnosed complex chromosomal rearrangement (CCR) identified by preimplantation genetic screening (PGS) followed by preimplantation genetic diagnosis (PGD) which...
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Article
Open AccessImproving preimplantation genetic diagnosis (PGD) reliability by selection of sperm donor with the most informative haplotype
The study is aimed to describe a novel strategy that increases the accuracy and reliability of PGD in patients using sperm donation by pre-selecting the donor whose haplotype does not overlap the carrier’s one.
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Article
Open AccessThe effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells
Most cases of colorectal cancer (CRC) are initiated by inactivation mutations in the APC gene, which is a negative regulator of the Wnt-β-catenin pathway. Patients with familial adenomatous polyposis (FAP) inh...
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Article
Impaired function of trophoblast cells derived from translocated hESCs may explain pregnancy loss in women with balanced translocation (11;22)
The aim of the study was to study whether the trophoblasts carrying unbalanced translocation 11,22 [t(11;12)] display abnormal expression of trophoblastic genes and impaired functional properties that may expl...
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Article
Blastomere biopsy for PGD delays embryo compaction and blastulation: a time-lapse microscopic analysis
The purpose of the study was to explore the effect of blastomere biopsy for preimplantation genetic diagnosis (PGD) on the embryos’ dynamics, further cleavage, development, and implantation.
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Article
Correction: Corrigendum: Derivation of novel human ground state naive pluripotent stem cells
Nature 504, 282–286 (2013); doi:10.1038/nature12745 The reduced representation bisulphite sequencing (RRBS) data generated and analysed in this Letter were not originally uploaded to the Gene Expression Omnibu...
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Article
Modeling Neurodevelopmental Disorders Using Human Pluripotent Stem Cells
Neurodevelopmental disorders (NDs) are impairments that affect the development and growth of the brain and the central nervous system during embryonic and early postnatal life. Genetically manipulated animals ...
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Article
Derivation of novel human ground state naive pluripotent stem cells
It is known that human embryonic stem (ES) cells are more similar to mouse primed epiblast stem cells than to naive mouse ES cells; here culture conditions are determined that allow human ES and induced plurip...
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Protocol
Mutated Human Embryonic Stem Cells for the Study of Human Genetic Disorders
Human embryonic stem cells (HESCs) are of great interest in biology and medicine due to their ability to grow indefinitely in culture while maintaining their ability to differentiate into all different cell ty...
