Search Results - "Sharony, Reuven"

Oocyte activation by calcium ionophore and congenital birth defects: a retrospective cohort study by Miller, Netanella, M.D, Biron-Shental, Tal, M.D, Sukenik-Halevy, Rivka, M.D, Klement, Anat Hershko, M.D, Sharony, Reuven, M.D, Berkovitz, Arie, M.D

“…Objective To evaluate the safety of oocyte activation by calcium ionophore in cases of failed fertilization after intracytoplasmic sperm injection (ICSI)…”
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Spectrum of PEX1 and PEX6 variants in Heimler syndrome by Smith, Claire E L, Poulter, James A, Levin, Alex V, Capasso, Jenina E, Price, Susan, Ben-Yosef, Tamar, Sharony, Reuven, Newman, William G, Shore, Roger C, Brookes, Steven J, Mighell, Alan J, Inglehearn, Chris F

“…Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual…”
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Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor by Sharony, Reuven, Martins, Sandra, Costa, Inês P D, Zaltzman, Roy, Amorim, António, Sequeiros, Jorge, Gordon, Carlos R

“…In 1994, a kindred from Yemen was described as the first Jewish family with Machado-Joseph disease (MJD/SCA3), a dominant ataxia caused by the expansion of a…”
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A Novel Mutation of the CLN8 Gene: Is There a Mediterranean Phenotype? by Zelnik, Nathanel, MD, Mahajna, Muhammad, MD, PhD, Iancu, Theodore C., MD, Sharony, Reuven, MD, Zeigler, Marsha, PhD

“…We report the first known case in Israel of a patient with an early childhood onset of ceroid-lipofuscinosis who is homozygous to a mutation of the CLN8 gene…”
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When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations by Maya, Idit, Sharony, Reuven, Yacobson, Shiri, Kahana, Sarit, Yeshaya, Josepha, Tenne, Tamar, Agmon-Fishman, Ifaat, Cohen-Vig, Lital, Goldberg, Yael, Berger, Racheli, Basel-Salmon, Lina, Shohat, Mordechai

“…To compare the frequency of copy-number variants (CNVs) of variable penetrance in low-risk and high-risk prenatal samples and postnatal samples. Two cohorts…”
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Fetal liver calcifications: an autopsy study by Kidron, Debora, Sharony, Reuven

“…Fetal liver calcifications are occasionally found in fetal autopsies. However, the incidence, associated findings, clinical significance, and presumed…”
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Automated image analysis of placental villi and syncytial knots in histological sections by Kidron, Debora, MD, Vainer, Ifat, Fisher, Yael, Sharony, Reuven

“…Abstract Introduction Delayed villous maturation and accelerated villous maturation diagnosed in histologic sections are morphologic manifestations of…”
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Spinocerebellar ataxia type 3 in Israel: phenotype and genotype of a Jew Yemenite subpopulation by Zaltzman, Roy, Sharony, Reuven, Klein, Colin, Gordon, Carlos R.

“…Spinocerebellar ataxia type 3 is an autosomal dominant ataxia with various phenotypes affecting Jews of Yemenite origin in Israel. Clinical and family…”
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Spinocerebellar Ataxia Type 3 (Machado-Joseph Disease) in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation (P2.129) by Zaltzman, Roy, Sharony, Reuven, Klein, Colin, Gordon, Carlos

“…Abstract only…”
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Telomere homeostasis in placentas from pregnancies with uncontrolled diabetes by Biron-Shental, Tal, Liberman, Meital, Elbaz, Michal, Laish, Ido, Sharony, Reuven, Amiel, Aliza

“…Abstract Objective Diabetes during pregnancy causes an intrauterine environment that influences lifetime sickness of the mother and the fetus. There is a…”
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Corrigendum to “Morphometric characteristics of the umbilical cord and vessels in fetal growth restriction and pre-eclampsia” [Early Hum Dev 92 (2016) 57–62] by Sharony, Reuven, Keltz, Eran, Biron-Shental, Tal, Kidron, Debora

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The mid-gestation triple test profile among women diagnosed with vasa previa by Melcer, Yaakov, Maymon, Ron, Pekar-Zlotin, Marina, Tovbin, Josef, Smorgick, Noam, Cuckle, Howard, Sharony, Reuven

“…Purpose: To assess the mid-trimester triple test biomarkers among women diagnosed with vasa previa (VP). Methods: The study included 43 singleton pregnancies…”
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Morphometric characteristics of the umbilical cord and vessels in fetal growth restriction and pre-eclampsia by Sharony, Reuven, Keltz, Eran, Biron-Shental, Tal, Kidron, Debora

“…Abstract Background Reports on the morphometric analysis of umbilical cord (UC) and its vessels have been inconsistent due to varying inclusion criteria and…”
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Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1–8 does not cause Beals syndrome by Maya, Idit, Kahana, Sarit, Agmon-Fishman, Ifaat, Klein, Cochava, Matar, Reut, Berger, Racheli, Shohat, Mordechai, Basel-Salmon, Lina, Sharony, Reuven, Sagi-Dain, Lena

“…Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder, associated with heterozygous mutations in the FBN2 gene. The objective of…”
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Non-visualization of fetal gallbladder in microarray era - a retrospective cohort study and review of the literature by Sagi-Dain, Lena, Singer, Amihood, Hadid, Yarin, Sharony, Reuven, Vinkler, Chana, Bar-Shira, Anat, Segel, Reeval, Ben Shachar, Shay, Maya, Idit

“…Objective: The objective of this study is to examine the frequency of abnormal Chromosomal Microarray (CMA) analyses among fetuses with isolated…”
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Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1 by Brownstein, Zippora, Gulsuner, Suleyman, Walsh, Tom, Martins, Fábio T.A., Taiber, Shahar, Isakov, Ofer, Lee, Ming K., Bordeynik‐Cohen, Mor, Birkan, Maria, Chang, Weise, Casadei, Silvia, Danial‐Farran, Nada, Abu‐Rayyan, Amal, Carlson, Ryan, Kamal, Lara, Arnthórsson, Asgeir Ö., Sokolov, Meirav, Gilony, Dror, Lipschitz, Noga, Frydman, Moshe, Davidov, Bella, Macarov, Michal, Sagi, Michal, Vinkler, Chana, Poran, Hana, Sharony, Reuven, Samra, Nadra, Zvi, Na'ama, Baris‐Feldman, Hagit, Singer, Amihood, Handzel, Ophir, Hertzano, Ronna, Ali‐Naffaa, Doaa, Ruhrman‐Shahar, Noa, Madgar, Ory, Sofrin‐Drucker, Efrat, Peleg, Amir, Khayat, Morad, Shohat, Mordechai, Basel‐Salmon, Lina, Pras, Elon, Lev, Dorit, Wolf, Michael, Steingrimsson, Eirikur, Shomron, Noam, Kelley, Matthew W., Kanaan, Moien N., Allon‐Shalev, Stavit, King, Mary‐Claire, Avraham, Karen B.

“…Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations…”
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The yield of the prenatal work-up in intrauterine growth restriction and the spectrum of fetal abnormalities detected postnatally by Sukenik-Halevy, Rivka, Katz, Adi, Regev, Rivka H., Markovitch, Ofer, Sharony, Reuven, Ganor Paz, Yael, Biron-Shental, Tal

“…Objective: To evaluate the yield of work-up in intrauterine growth restriction (IUGR) pregnancies and their outcomes. Materials and methods: Retrospective data…”
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Is the ratio of maternal serum to amniotic fluid AFP superior to serum levels as a predictor of pregnancy complications? by Sharony, Reuven, Dayan, Dikla, Kidron, Debora, Manor, Mira, Berkovitz, Arie, Biron-Shental, Tal, Maymon, Ron

“…Purpose The use of maternal serum alpha fetoprotein (MSAFP) levels as a predictor of pregnancy complications (PC) is well established. We hypothesized that the…”
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The magnitude of elevated maternal serum human chorionic gonadotropin and pregnancy complications by Sharony, Reuven, Zipper, Oren, Amichay, Keren, Wiser, Amir, Kidron, Debora, Biron-Shental, Tal, Maymon, Ron

“…This study assessed the correlation between the magnitude of the elevation in maternal serum human chorionic gonadotropin (MShCG) levels and pregnancy…”
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Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations by Wangtiraumnuay, Nutsuchar, Alnabi, Waleed Abed, Tsukikawa, Mai, Thau, Avrey, Capasso, Jenina, Sharony, Reuven, Inglehearn, Chris F, Levin, Alex V

“…Pigmentary retinal dystrophy and macular dystrophy have been previously reported in Heimler syndrome due to mutations in PEX1. Here we reported the ocular…”
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