Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Esther, Manor"'
Autor:
Poonnada Jiraanont, Esther Manor, Nazi Tabatadze, Marwa Zafarullah, Guadalupe Mendoza, Gia Melikishvili, Flora Tassone
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5′
Externí odkaz:
https://doaj.org/article/5a06631eb44a4855ab9462d21053d169
Autor:
Esther Manor, Raphael Gonen, Benjamin Sarussi, Danielle Keidar‐Friedman, Jay Kumar, Hiu‐Tung Tang, Flora Tassone
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Abstract Background The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AG
Externí odkaz:
https://doaj.org/article/f037af9044994a2ba3b2f8732faadf54
Autor:
Raphael Gonen, Max Platkov, Ziv Gardos, Sheli Shayir, Inna Levitsky, Marcelo Weinstein, Esther Manor
Publikováno v:
Cell Biochemistry and Biophysics. 80:375-384
Many chromosome assays rely on the quantification of chromosome abnormalities in cells, and one important abnormality is the existence of more than one centromere for each chromosome. The quantification of such abnormalities has been studied before.
Publikováno v:
Frontiers in Genetics, Vol 8 (2017)
Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable allele from his full mutation mosaic mother (29, 160, >200 CGG repeats) reduced to a normal size range (19 CGG repeats). Haplotype analysis showed that the fe
Externí odkaz:
https://doaj.org/article/9e0704561f234fa09f45334b88e90a0f
Publikováno v:
International Journal of Medical Sciences, Vol 9, Iss 1, Pp 20-26 (2012)
Three hundred and twenty-two patients (192 male and 130 female) with cystic lesions of the jaw were successfully diagnosed and treated. One hundred and fifty-five (48%) were radicular cysts, 80 (25%) were dentigerous cysts, 23 (7%) were odontogenic k
Externí odkaz:
https://doaj.org/article/c083fc30ee63421988bbdc31450e2069
Autor:
Tamar Tenne, Adi Reches, Morad Khayat, Julia Grinshpun-Cohen, Adel Shalata, Hagith Yonath, Reeval Segel, Ehud Banne, Amihood Singer, Idit Maya, Racheli Berger, Ayala Frumkin, Esther Manor, Lena Sagi-Dain, Shay Ben-Shachar
Publikováno v:
Obstetrics & Gynecology. 132:1368-1375
Objective To examine chromosomal microarray analysis results in pregnancies with various ultrasonographic anomalies and to characterize the copy number variants in diverse fetal phenotypes. Methods We retrospectively examined chromosomal microarray a
Autor:
Esther Manor, David Gisselsson, Jenny Karlsson, Daniel Lichtenzstejn, Polina Kachko, Sabine Mai
Publikováno v:
Genes, Chromosomes and Cancer. 58:452-461
Tissue cultures of immortalized human cells, also known as established cell lines, are broadly accessible and cost-efficient tools for biomedical research. We here review potential genetic sources of systematic error in cell line experiments due to c
Publikováno v:
Case Reports in Dentistry, Vol 2012 (2012)
Background. Ameloblastic fibroodontoma (AFO) is a rare mixed odontogenic tumor with epithelial and mesenchymal components. AFO presents as a painless swelling in the mandible or maxilla. Radiographs show a well-defined radiolucent area containing var
Externí odkaz:
https://doaj.org/article/4d5428178cc442108b29f39141bd9869
Autor:
Erel Joffe, Esther Manor, Howard S. Oster, Itai Levi, Uri Greenbaum, Gili Man-El, Kalman Filanovsky, Ilya Kirgner, Irit Avivi, Moshe Mittelman, Pia Raanani
Publikováno v:
European Journal of Haematology. 101:502-507
Objectives To ascertain the relevance of bone marrow cellularity (BMC) to the interpretation of blast percentage (blast%) in MDS prognostication. Methods We compared survival prediction based on blast% adjusted to different levels of cellularity, com
Autor:
Jay Kumar, Esther Manor, Raphael Gonen, Flora Tassone, Danielle Keidar-Friedman, Hiu Tung Tang, Benjamin Sarussi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Molecular genetics & genomic medicine, vol 7, iss 10
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 7, iss 10
Molecular Genetics & Genomic Medicine
Background The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AGG in the