Search Results - "Altarescu, Gheona"

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing by Nowak, Albina, Murik, Omer, Mann, Tzvia, Zeevi, David A., Altarescu, Gheona

“…More than 900 variants have been described in the GLA gene. Some intronic variants and copy number variants in GLA can cause Fabry disease but will not be…”
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Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial by Verpoest, Willem, Staessen, Catherine, Bossuyt, Patrick M, Goossens, Veerle, Altarescu, Gheona, Bonduelle, Maryse, Devesa, Martha, Eldar-Geva, Talia, Gianaroli, Luca, Griesinger, Georg, Kakourou, Georgia, Kokkali, Georgia, Liebenthron, Jana, Magli, Maria-Cristina, Parriego, Monica, Schmutzler, Andreas G, Tobler, Monica, van der Ven, Katrin, Geraedts, Joep, Sermon, Karen

“…Abstract STUDY QUESTION Does preimplantation genetic testing for aneuploidy (PGT-A) by comprehensive chromosome screening (CCS) of the first and second polar…”
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The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users by Zuckerman, Shachar, Gooldin, Sigal, Zeevi, David A., Altarescu, Gheona

“…Purpose The decision to undergo preimplantation genetic testing (PGT) entails a variety of personal and societal variables. Although PGT technology is widely…”
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SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing by Backenroth, Daniel, Altarescu, Gheona, Zahdeh, Fouad, Mann, Tzvia, Murik, Omer, Renbaum, Paul, Segel, Reeval, Zeligson, Sharon, Hakam-Spector, Elinor, Carmi, Shai, Zeevi, David A.

“…Recent advances in genomic technologies expand the scope and efficiency of preimplantation genetic testing (PGT). We previously developed Haploseek, a…”
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Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing by Zeevi, David A., Backenroth, Daniel, Hakam-Spector, Elinor, Renbaum, Paul, Mann, Tzvia, Zahdeh, Fouad, Segel, Reeval, Zeligson, Sharon, Eldar-Geva, Talia, Ben-Ami, Ido, Ben-Yehuda, Adi, Carmi, Shai, Altarescu, Gheona

“…We previously developed Haploseek, a method for comprehensive preimplantation genetic testing (PGT). However, some key features were missing, and the method…”
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The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease by Germain, Dominique P., Moiseev, Sergey, Suárez‐Obando, Fernando, Al Ismaili, Faisal, Al Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Maksimova, Irina, Kramis, Mirelle, Nampoothiri, Sheela, Nguyen, Khanh Ngoc, Niu, Dau‐Ming, Politei, Juan, Ro, Long‐Sun, Vu Chi, Dung, Chen, Nan, Kutsev, Sergey

“…Background Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to…”
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Neonatal outcome after preimplantation genetic diagnosis by Eldar-Geva, Talia, M.D., Ph.D, Srebnik, Naama, M.D, Altarescu, Gheona, M.D, Varshaver, Irit, M.Sc, Brooks, Baruch, Ph.D, Levy-Lahad, Ephrat, M.D, Bromiker, Ruben, M.D, Schimmel, Michael S., M.D

“…Objective To examine whether embryo biopsy for preimplantation genetic diagnosis (PGD) influences neonatal outcomes. Design Prospective follow-up cohort…”
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Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do? by Rotshenker-Olshinka, Keren, Srebnik Moshe, Naama, Weiss, Omri, Shaviv, Shira, Freireich, Orit, Segel, Reeval, Zeligson, Sharon, Eldar-Geva, Talia, Altarescu, Gheona

“…Purpose To review cases of couples presented to our PGT-unit with copy number variants (CNVs) classified as variants of uncertain significance (VUS) in order…”
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FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells by Avitzour, Michal, Mor-Shaked, Hagar, Yanovsky-Dagan, Shira, Aharoni, Shira, Altarescu, Gheona, Renbaum, Paul, Eldar-Geva, Talia, Schonberger, Oshrat, Levy-Lahad, Ephrat, Epsztejn-Litman, Silvina, Eiges, Rachel

“…Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from epigenetic silencing of the X-linked FMR1 gene by a CGG…”
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Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells by Yanovsky-Dagan, Shira, Avitzour, Michal, Altarescu, Gheona, Renbaum, Paul, Eldar-Geva, Talia, Schonberger, Oshrat, Mitrani-Rosenbaum, Stella, Levy-Lahad, Ephrat, Birnbaum, Ramon Y., Gepstein, Lior, Epsztejn-Litman, Silvina, Eiges, Rachel

“…CTG repeat expansion in DMPK, the cause of myotonic dystrophy type 1 (DM1), frequently results in hypermethylation and reduced SIX5 expression. The…”
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Effect of genetic modifiers on cerebral lesions in Fabry disease by ALTARESCU, Gheona, MOORE, David F, SCHIFFMANN, Raphael

“…Fabry disease is associated with increased risk of premature stroke and presumptive ischemic cerebral lesions. In 57 consecutive patients, 35% of whom had…”
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Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis by Epsztejn-Litman, Silvina, Cohen-Hadad, Yaara, Aharoni, Shira, Altarescu, Gheona, Renbaum, Paul, Levy-Lahad, Ephrat, Schonberger, Oshrat, Eldar-Geva, Talia, Zeligson, Sharon, Eiges, Rachel

“…We report on the derivation of a diploid 46(XX) human embryonic stem cell (HESC) line that is homozygous for the common deletion associated with Spinal…”
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Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells by Cohen-Hadad, Yaara, Altarescu, Gheona, Eldar-Geva, Talia, Levi-Lahad, Ephrat, Zhang, Ming, Rogaeva, Ekaterina, Gotkine, Marc, Bartok, Osnat, Ashwal-Fluss, Reut, Kadener, Sebastian, Epsztejn-Litman, Silvina, Eiges, Rachel

“…We established two human embryonic stem cell (hESC) lines with a GGGGCC expansion in the C9orf72 gene (C9), and compared them with haploidentical and unrelated…”
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A safety trial of high dose glyceryl triacetate for Canavan disease by Segel, Reeval, Anikster, Yair, Zevin, Shoshana, Steinberg, Avraham, Gahl, William A., Fisher, Drora, Staretz-Chacham, Orna, Zimran, Ari, Altarescu, Gheona

“…Canavan disease (CD MIM#271900) is a rare autosomal recessive neurodegenerative disorder presenting in early infancy. The course of the disease is variable,…”
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Does elevated human chorionic gonadotropin alone trigger spontaneous ovarian hyperstimulation syndrome? by Michaelson-Cohen, Rachel, M.D, Altarescu, Gheona, M.D, Beller, Uziel, M.D, Reens, Renat, M.D, Halevy-Shalem, Tamar, M.D, Eldar-Geva, Talia, M.D., Ph.D

“…Objective To test whether elevated hCG alone triggers spontaneous ovarian hyperstimulation syndrome (sOHSS). Design Retrospective analysis. Setting Departments…”
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Enhanced endothelium-dependent vasodilation in Fabry disease by ALTARESCU, Gheona, MOORE, David F, PURSLEY, Randall, CAMPIA, Umberto, GOLDSTEIN, Seth, BRYANT, Melissa, PANZA, Julio A, SCHIFFMANN, Raphael

“…Fabry disease is an X-linked lysosomal storage disease secondary to deficiency of alpha-galactosidase A with resulting glycolipid accumulation, particularly…”
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PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis by Altarescu, Gheona, Eldar Geva, Talia, Brooks, Barry, Margalioth, Ehud, Levy-Lahad, Ephrat, Renbaum, Paul

“…Objective Accounting for possible recombinations in developing an accurate preimplantation genetic diagnosis (PGD) protocol based on familial haplotypes…”
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Achievement of Therapeutic Goals with Low-Dose Imiglucerase in Gaucher Disease : A Single-Center Experience by Altarescu, Gheona, Tukan, Irina, Zimran, Ari, Elstein, Deborah, Abrahamov, Ayala, Hadas-Halpern, Irith

“…Gaucher disease, a lysosomal storage disorder, is a multisystem disorder with variable and unpredictable onset and severity. Disease-specific enzyme…”
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Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease by Moore, David F, Altarescu, Gheona, Herscovitch, Peter, Schiffmann, Raphael

“…Fabry disease is a lysosomal X-linked enzyme deficiency of alpha-galactosidase A associated with an increased mortality and morbidity due to renal failure,…”
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Anesthetic management for oocyte retrieval: An exploratory analysis comparing outcome in in vitro fertilization cycles with and without pre-implantation genetic diagnosis by Ioscovich, Alexander, Eldar-Geva, Talia, Weitman, Marina, Altarescu, Gheona, Rivilis, Alina, Elstein, Deborah

“…To date, there has been no comparison of outcomes in women undergoing anesthesia for in vitro fertilization (IVF) oocyte retrieval for the purpose of…”
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