Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Josepha Yeshaya"'
Autor:
Alina Kurolap, David Hagin, Tal Freund, Sigal Fishman, Noa Zunz Henig, Eli Brazowski, Josepha Yeshaya, Tova Naiman, Elon Pras, Jacob N. Ablin, Hagit Baris Feldman
Publikováno v:
Human Genetics. 142:683-690
The complement system regulator CD55 was initially found to carry the Cromer blood group system antigens, and its complete loss of function was subsequently revealed to cause a severe monogenic gastrointestinal syndrome characterized by protein-losin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6ac11c1937fd3aedaf2cdfd563e3bf1
https://doi.org/10.1007/s00439-021-02428-3
https://doi.org/10.1007/s00439-021-02428-3
Autor:
Reuven Sharony, Ifaat Agmon-Fishman, Shiri Yacobson, Sarit Kahana, Tamar Tenne, Lital Cohen-Vig, Mordechai Shohat, Josepha Yeshaya, Lina Basel-Vanagaite, Idit Maya
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 50:332-335
Objectives An association between isolated, increased nuchal translucency thickness and pathogenic chromosomal microarray analysis (CMA) has been reported. A recent meta-analysis reported that most studies used a 3.5 mm cut-off value. Considering nuc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a4b1baff879a7b6566fd625afa518d7
https://doi.org/10.1002/uog.17421
https://doi.org/10.1002/uog.17421
Autor:
Tamar Tenne, Idit Maya, Josepha Yeshaya, Reuven Sharony, Shiri Yacobson, Alex Levi, Ifaat Agmon-Fishman, Lital Cohen‐Vig, Sarit Kahana, Eyal Reinstein, Lina Basel-Vanagaite
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 49:337-341
Objective To evaluate the association between aberrant right subclavian artery (ARSA), with or without additional risk factors for aneuploidy or ultrasound abnormality, and results of chromosomal microarray analysis (CMA). Methods This was a multicen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3184960b0dbc862fc7800df6e6ed41ee
https://doi.org/10.1002/uog.15935
https://doi.org/10.1002/uog.15935
Autor:
Nino Oniashvili, Pia Raanani, Adina Aviram, Daniel Shepshelovich, Eli Muchtar, Josepha Yeshaya, Doris Parnes, Alina Klein, Esther Rabizadeh
Publikováno v:
Cancer Genetics. 208:575-579
Acute promyelocytic leukemia (APL) is a subtype of acute leukemia that is characterized by typical morphology, bleeding events and distinct chromosomal aberrations, usually the t(15;17)(q22;q21) translocation. Approximately 9% of APL patients harbor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f29c7c65479a1b045bbb76fe0c3f0eae
https://doi.org/10.1016/j.cancergen.2015.08.001
https://doi.org/10.1016/j.cancergen.2015.08.001
Autor:
Idit Maya, Israel Meizner, Lina Basel-Vanagaite, Eran Hadar, Rinat Gabbay-Benziv, Shiri Yacobson, Lylach Haizler-Cohen, Sarit Kahana, Ifaat Agmon-Fishman, Josepha Yeshaya, Lital Cohen-Vig, Ron Bardin
Publikováno v:
Journal of perinatal medicine. 46(9)
Objective: To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings. Design: Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fe22bc6958ae591538fadb58e499bdd
https://pubmed.ncbi.nlm.nih.gov/28915119
https://pubmed.ncbi.nlm.nih.gov/28915119
Autor:
Lital Cohen-Vig, Tamar Tenne, Sarit Kahana, Yael Goldberg, Ifaat Agmon-Fishman, Shiri Yacobson, Josepha Yeshaya, Mordechai Shohat, Lina Basel-Salmon, Idit Maya, Reuven Sharony, Racheli Berger
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(1)
PurposeTo compare the frequency of copy-number variants (CNVs) of variable penetrance in low-risk and high-risk prenatal samples and postnatal samples.MethodsTwo cohorts were categorized according to chromosomal microarray analysis (CMA) indication:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf5c327d8cbf64a982a9731c49df7b97
https://pubmed.ncbi.nlm.nih.gov/28726807
https://pubmed.ncbi.nlm.nih.gov/28726807
Autor:
Hagit N. Baris, Liora Kornreich, Dorit Lev, Chana Vinkler, Osnat Konen, Mordechai Shohat, Tamar Steinberg, Victoria Latarowski, Idit Maya, Josepha Yeshaya
Publikováno v:
American journal of medical genetics. Part A. (8)
Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome ascribed to an interstitial deletion in chromosome 17p11.2. Seventy percent of SMS patients have a common deletion interval spanning 3.5 megabases (Mb). Clinical featu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14ed70c9391be45db93be3d14c2e8827
https://pubmed.ncbi.nlm.nih.gov/24788350
https://pubmed.ncbi.nlm.nih.gov/24788350
Publikováno v:
Human Genetics. 105:86-97
X-chromosome inactivation and the size of the CGG repeat number are assumed to play a role in the clinical, physical, and behavioral phenotype of female carriers of a mutated FMR1 allele. In view of the tight relationship between replication timing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::721f0f9347aa2641491f8b16a0b67603
https://doi.org/10.1007/s004399900081
https://doi.org/10.1007/s004399900081
Publikováno v:
Molecular Cytogenetics, Vol 2, Iss 1, p 11 (2009)
Molecular Cytogenetics
Molecular Cytogenetics
Background The temporal order of allelic replication is interrelated to the epigenomic profile. A significant epigenetic marker is the asynchronous replication of monoallelically-expressed genes versus the synchronous replication of biallelically-exp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9787231f33aab1eaa5f012dbc20d024e
https://doi.org/10.1186/1755-8166-2-11
https://doi.org/10.1186/1755-8166-2-11
Publikováno v:
IEEE/ACM transactions on computational biology and bioinformatics. 4(2)
Solving a multiclass classification task using a small imbalanced database of patterns of high dimension is difficult due to the curse-of-dimensionality and the bias of the training toward the majority classes. Such a problem has arisen while diagnos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::024100129eaacd507fe32d1e6b169205
https://pubmed.ncbi.nlm.nih.gov/17473314
https://pubmed.ncbi.nlm.nih.gov/17473314