Search Results - "Singer, Amihood"

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy by Navon Elkan, Paulina, Pierce, Sarah B, Segel, Reeval, Walsh, Tom, Barash, Judith, Padeh, Shai, Zlotogorski, Abraham, Berkun, Yackov, Press, Joseph J, Mukamel, Masha, Voth, Isabel, Hashkes, Philip J, Harel, Liora, Hoffer, Vered, Ling, Eduard, Yalcinkaya, Fatos, Kasapcopur, Ozgur, Lee, Ming K, Klevit, Rachel E, Renbaum, Paul, Weinberg-Shukron, Ariella, Sener, Elif F, Schormair, Barbara, Zeligson, Sharon, Marek-Yagel, Dina, Strom, Tim M, Shohat, Mordechai, Singer, Amihood, Rubinow, Alan, Pras, Elon, Winkelmann, Juliane, Tekin, Mustafa, Anikster, Yair, King, Mary-Claire, Levy-Lahad, Ephrat

“…Adenosine deaminase 2 (ADA2) is a protein with at least two functions. It is a growth factor affecting leukocytes and endothelial cells and an enzyme that…”
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Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results – Analysis of 269 singleton pregnancies by Singer, Amihood, Maya, Idit, Banne, Ehud, Baris Feldman, Hagit, Vinkler, Chana, Ben Shachar, Shay, Sagi-Dain, Lena

“…To examine the detection rate of clinically significant chromosomal microarray analysis (CMA) results in singleton pregnancies with clubfoot. Data from all CMA…”
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The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies by Sagi-Dain, Lena, Singer, Amihood, Falik-Zaccai, Tzipora, Peleg, Amir, Bar-Shira, Anat, Feingold-Zadok, Michal, Ben Shachar, Shay, Maya, Idit

“…Purpose To analyze the risk for clinically significant microarray aberrations in pregnancies with polyhydramnios. Methods Data from all chromosomal microarray…”
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Trends in Non-invasive Prenatal Screening and Invasive Testing in Denmark (2000–2019) and Israel (2011–2019) by Sagi-Dain, Lena, Singer, Amihood, Petersen, Olav B., Lou, Stina, Vogel, Ida

“…Introduction: Following the wide distribution of non-invasive prenatal genetic screening (NIPS), numerous studies have reported a decline in total invasive…”
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Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels by Einhorn, Yaron, Einhorn, Moshe, Kurolap, Alina, Steinberg, Dror, Mory, Adi, Bazak, Lily, Paperna, Tamar, Grinshpun-Cohen, Julia, Basel-Salmon, Lina, Weiss, Karin, Singer, Amihood, Yaron, Yuval, Baris Feldman, Hagit

“…The American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. While many pan-ethnic genetic…”
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Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally by Tzadikevitch Geffen, Keren, Singer, Amihood, Maya, Idit, Sagi-Dain, Lena, Khayat, Morad, Ben-Shachar, Shay, Daum, Hagit, Michaelson-Cohen, Rachel, Feingold-Zadok, Michal, Sukenik Halevy, Rivka

“…Purpose To investigate the prevalence of pathogenic and likely-pathogenic variants detected by chromosomal microarray analysis (CMA), among pregnancies with…”
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Array Comparative Genomic Hybridization as a Diagnostic Tool for Syndromic Heart Defects by Breckpot, Jeroen, MD, Thienpont, Bernard, PhD, Peeters, Hilde, MD, PhD, de Ravel, Thomy, MD, PhD, Singer, Amihood, MD, Rayyan, Maissa, MD, Allegaert, Karel, MD, PhD, Prof, Vanhole, Christine, MD, PhD, Prof, Eyskens, Benedicte, MD, PhD, Prof, Vermeesch, Joris Robert, PhD, Prof, Gewillig, Marc, MD, PhD, Prof, Devriendt, Koenraad, MD, PhD, Prof

“…Objectives To investigate different aspects of the introduction of array comparative genomic hybridization (aCGH) in clinical practice. Study design A total…”
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BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family by Pode‐Shakked, Naomi, Barel, Ortal, Pode‐Shakked, Ben, Eliyahu, Aviva, Singer, Amihood, Nayshool, Omri, Kol, Nitzan, Raas‐Rothschild, Annick, Pras, Elon, Shohat, Mordechai

“…Background Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated…”
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Refining the Phenotypic Spectrum of KMT5B -Associated Developmental Delay by Eliyahu, Aviva, Barel, Ortal, Greenbaum, Lior, Zaks Hoffer, Gal, Goldberg, Yael, Raas-Rothschild, Annick, Singer, Amihood, Bar-Joseph, Ifat, Kunik, Vered, Javasky, Elisheva, Staretz-Chacham, Orna, Pode-Shakked, Naomi, Bazak, Lily, Ruhrman-Shahar, Noa, Pras, Elon, Frydman, Moshe, Shohat, Mordechai, Pode-Shakked, Ben

“…The role of lysine methyltransferases (KMTs) and demethylases (KDMs) in the regulation of chromatin modification is well-established. Recently, deleterious…”
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A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin by Litz Philipsborn, Shira, Hartmajer, Shulamit, Shtorch Asor, Atalia, Vinovezky, Mika, Regev, Miriam, Singer, Amihood, Reinstein, Eyal

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473 The need for invasive procedure after normal NIPS depends on the type of cardiac malformation by Sagi-Dain, Lena, Maya, Idit, Singer, Amihood

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77: Microarray testing in pregnancies with nuchal translucency 3-3.4 mm – time to change the cut-off by Sagi-Dain, Lena, Singer, Amihood, Maya, Idit

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Compliance and satisfaction with BRCA surveillance in specialized clinics versus community follow-up by Vortman, Rita, Echar, Moran, Singer, Amihood, Sagi-Dain, Lena

“…To assess adherence to medical follow-up protocols among BRCA1/2 carriers and compare outcomes between dedicated carrier clinics and community healthcare…”
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Colchicine treatment increases the risk for fetal chromosomal aberrations—an observational study and systematic literature review by Singer, Amihood, Grinshpun-Cohen, Julia, Sagi-Dain, Lena

“…Abstract Objectives To examine the risk for chromosomal aberrations in fetuses of colchicine-treated patients in a large cohort, and to perform a systematic…”
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Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy by Singer, Amihood, Aartsma-Rus, Annemieke, Grinshpun-Cohen, Julia, Sagi-Dain, Lena

“…To summarize the results of first year implementation of pan-ethnic screening testing for Duchenne muscular dystrophy (DMD) and present the ensuing challenges…”
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Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism by Sagi-Dain, Lena, Weisz, Boaz, Haratz Krajden, Karina, Singer, Amihood, Yaron, Yuval, Maymon, Ron

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Risk of Clinically Significant Chromosomal Microarray Analysis Findings in Fetuses With Nuchal Translucency From 3.0 mm Through 3.4 mm by Sagi-Dain, Lena, Singer, Amihood, Ben Shachar, Shay, Josefsberg Ben Yehoshua, Sagi, Feingold-Zadok, Michal, Greenbaum, Lior, Maya, Idit

“…OBJECTIVE:To examine the risk of clinically significant chromosomal microarray analysis findings in fetuses with nuchal translucency from 3.0–3.4 mm. In…”
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The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening by Sagi-Dain, Lena, Singer, Amihood, Segel, Reeval, Berger, Racheli, Kanengisser-Pines, Bibi, Maya, Idit

“…Evidence comparing the yield of chromosomal microarray analysis to noninvasive prenatal screening in pregnancies with congenital heart anomalies is currently…”
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THE RISK FOR CLINICALLY SIGNIFICANT COPY NUMBER VARIANTS IN PREGNANCIES WITH TWO SOFT MARKERS by Singer, Amihood, Grinshpun-Cohen, Julia, Sagi-Dain, Lena

“…Soft sonographic markers, such as an intracardiac echogenic focus, are demonstrated in one out of 150 live births and are associated with a slightly increased…”
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The anxiety caused by abnormal results of Down syndrome screening tests by Sagi-Dain, Lena, Peleg, Amir, Sagi, Shlomi, Singer, Amihood

“…The objective of our survey was to evaluate the anxiety experienced by women receiving abnormal results of prenatal Down syndrome screening by an electronic…”
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