Search Results - "Levy‐Lahad, Ephrat"

Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers by Laitman, Yael, Michaelson‐Cohen, Rachel, Levi, Einat, Chen‐Shtoyerman, Rakefet, Reish, Orit, Josefsberg Ben‐Yehoshua, Sagi, Bernstein‐Molho, Rinat, Keinan‐Boker, Lital, Rosengarten, Ora, Silverman, Barbara G., Perri, Tamar, Korach, Jacob, Mor, Pnina, Ephrat Ben‐Baruch, Noa, Levy Lahad, Ephrat, Friedman, Eitan

“…Background BRCA1/2 mutation carriers have an increased risk of developing ovarian cancer, leading to the recommendation of risk‐reducing salpingo‐oophorectomy…”
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Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population by Rabin, Rachel, Hirsch, Yoel, Chung, Wendy K., Ekstein, Josef, Levy‐Lahad, Ephrat, Zuckerman, Shachar, Mor‐Shaked, Hagar, Meiner, Vardiella, Booth, Kevin T., Pappas, John

“…Bi‐allelic variants in COLEC11 and MASP1 have been associated with 3MC syndrome, a clinical entity made of up four rare autosomal recessive disorders:…”
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The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1‐associated anauxetic dysplasia by Abdulhadi‐Atwan, Maha, Klopstock, Tehila, Sharaf, Muna, Weinberg‐Shukron, Ariella, Renbaum, Paul, Levy‐Lahad, Ephrat, Zangen, David

“…Processing of Precursor RNA 1 (POP1) is a core protein component shared by two essential closely related eukaryotic ribonucleoprotein complexes: RNase MRP (the…”
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A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures by Segel, Reeval, Aran, Adi, Gulsuner, Suleyman, Nakamura, Hiroki, Rosen, Tzvia, Walsh, Tom, Denda, Hiroto, Zeligson, Sharon, Eto, Katsuki, Beeri, Rachel, Okai, Haruka, King, Mary-Claire, Levy-Lahad, Ephrat, Funato, Kouichi, Renbaum, Paul

“…Deficiency of the endoplasmic reticulum transmembrane protein ARV1 leads to epileptic encephalopathy in humans and in mice. ARV1 is highly conserved, but its…”
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Snord 3A: a molecular marker and modulator of prion disease progression by Cohen, Eran, Avrahami, Dana, Frid, Kati, Canello, Tamar, Levy Lahad, Ephrat, Zeligson, Sharon, Perlberg, Shira, Chapman, Joab, Cohen, Oren S, Kahana, Esther, Lavon, Iris, Gabizon, Ruth

“…Since preventive treatments for prion disease require early identification of subjects at risk, we searched for surrogate peripheral markers characterizing the…”
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Hiding in Plain Sight — Somatic Mutation in Human Disease by Levy-Lahad, Ephrat, King, Mary-Claire

“…Beck et al. define an adult-onset inflammatory disorder that unites multiple clinical conditions with previously different diagnoses or with no diagnosis at…”
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Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants by Fridman, Hila, Behar, Doron M., Carmi, Shai, Levy-Lahad, Ephrat

“…Expanded preconception carrier screening (ECS) identifies at-risk couples (ARCs) for multiple diseases. ECS reports currently include only pathogenic/likely…”
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Essential Role of BRCA2 in Ovarian Development and Function by Weinberg-Shukron, Ariella, Rachmiel, Mariana, Renbaum, Paul, Gulsuner, Suleyman, Walsh, Tom, Lobel, Orit, Dreifuss, Amatzia, Ben-Moshe, Avital, Zeligson, Sharon, Segel, Reeval, Shore, Tikva, Kalifa, Rachel, Goldberg, Michal, King, Mary-Claire, Gerlitz, Offer, Levy-Lahad, Ephrat, Zangen, David

“…Two sisters, each a compound heterozygote for loss-of-function BRCA2 variants, had ovarian dysgenesis. Biochemical analysis of cells obtained from one of the…”
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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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Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2 by Gabai-Kapara, Efrat, Lahad, Amnon, Kaufman, Bella, Friedman, Eitan, Segev, Shlomo, Renbaum, Paul, Beeri, Rachel, Gal, Moran, Grinshpun-Cohen, Julia, Djemal, Karen, Mandell, Jessica B., Lee, Ming K., Beller, Uziel, Catane, Raphael, King, Mary-Claire, Levy-Lahad, Ephrat

“…In the Ashkenazi Jewish (AJ) population of Israel, 11% of breast cancer and 40% of ovarian cancer are due to three inherited founder mutations in the cancer…”
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Vrk1 partial Knockdown in Mice Results in Reduced Brain Weight and Mild Motor Dysfunction, and Indicates Neuronal VRK1 Target Pathways by Vinograd-Byk, Hadar, Renbaum, Paul, Levy-Lahad, Ephrat

“…Mutations in Vaccinia-related kinase 1 ( VRK1 ) have emerged as a cause of severe neuronal phenotypes in human, including brain developmental defects and…”
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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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Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome by Pierce, Sarah B., Gersak, Ksenija, Michaelson-Cohen, Rachel, Walsh, Tom, Lee, Ming K., Malach, Daniel, Klevit, Rachel E., King, Mary-Claire, Levy-Lahad, Ephrat

“…The genetic causes of premature ovarian failure (POF) are highly heterogeneous, and causative mutations have been identified in more than ten genes so far. In…”
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Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure by Tenenbaum-Rakover, Yardena, Weinberg-Shukron, Ariella, Renbaum, Paul, Lobel, Orit, Eideh, Hasan, Gulsuner, Suleyman, Dahary, Dvir, Abu-Rayyan, Amal, Kanaan, Moien, Levy-Lahad, Ephrat, Bercovich, Dani, Zangen, David

“…Primary gonadal failure is characterised by primary amenorrhoea or early menopause in females, and oligospermia or azoospermia in males. Variants of the…”
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Copy number variations in cryptogenic cerebral palsy by Segel, Reeval, Ben-Pazi, Hilla, Zeligson, Sharon, Fatal-Valevski, Aviva, Aran, Adi, Gross-Tsur, Varda, Schneebaum-Sender, Nira, Shmueli, Dorit, Lev, Dorit, Perlberg, Shira, Blumkin, Luba, Deutsch, Lisa, Levy-Lahad, Ephrat

“…OBJECTIVE:To determine the prevalence and characteristics of copy number variations (CNVs) in children with cerebral palsy (CP) of unknown etiology, comprising…”
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BRCA mutational status shapes the stromal microenvironment of pancreatic cancer linking clusterin expression in cancer associated fibroblasts with HSF1 signaling by Shaashua, Lee, Ben-Shmuel, Aviad, Pevsner-Fischer, Meirav, Friedman, Gil, Levi-Galibov, Oshrat, Nandakumar, Subhiksha, Barki, Debra, Nevo, Reinat, Brown, Lauren E., Zhang, Wenhan, Stein, Yaniv, Lior, Chen, Kim, Han Sang, Bojmar, Linda, Jarnagin, William R., Lecomte, Nicolas, Mayer, Shimrit, Stok, Roni, Bishara, Hend, Hamodi, Rawand, Levy-Lahad, Ephrat, Golan, Talia, Porco, John A., Iacobuzio-Donahue, Christine A., Schultz, Nikolaus, Tuveson, David A., Lyden, David, Kelsen, David, Scherz-Shouval, Ruth

“…Tumors initiate by mutations in cancer cells, and progress through interactions of the cancer cells with non-malignant cells of the tumor microenvironment…”
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Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome by Pierce, Sarah B., Walsh, Tom, Chisholm, Karen M., Lee, Ming K., Thornton, Anne M., Fiumara, Agata, Opitz, John M., Levy-Lahad, Ephrat, Klevit, Rachel E., King, Mary-Claire

“…Perrault syndrome is a recessive disorder characterized by ovarian dysgenesis in females, sensorineural deafness in both males and females, and in some…”
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A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis by Weinberg-Shukron, Ariella, Renbaum, Paul, Kalifa, Rachel, Zeligson, Sharon, Ben-Neriah, Ziva, Dreifuss, Amatzia, Abu-Rayyan, Amal, Maatuk, Noa, Fardian, Nilly, Rekler, Dina, Kanaan, Moien, Samson, Abraham O, Levy-Lahad, Ephrat, Gerlitz, Offer, Zangen, David

“…Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX…”
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Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53 by Lolas Hamameh, Suhair, Renbaum, Paul, Kamal, Lara, Dweik, Dima, Salahat, Mohammad, Jaraysa, Tamara, Abu Rayyan, Amal, Casadei, Silvia, Mandell, Jessica B., Gulsuner, Suleyman, Lee, Ming K., Walsh, Tom, King, Mary‐Claire, Levy‐Lahad, Ephrat, Kanaan, Moein

“…Breast cancer among Palestinian women has lower incidence than in Europe or North America, yet is very frequently familial. We studied genetic causes of this…”
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Performance comparison: exome sequencing as a single test replacing Sanger sequencing by Fridman, Hila, Bormans, Concetta, Einhorn, Moshe, Au, Daniel, Bormans, Arjan, Porat, Yuval, Sanchez, Luisa Fernanda, Manning, Brent, Levy-Lahad, Ephrat, Behar, Doron M.

“…Next generation sequencing tests are used routinely as first-choice tests in the clinic. However, systematic performance comparing the results of exome…”
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