Search Results - "Yagel, Dina"

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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Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events by Heimer, Gali, Pode-Shakked, Ben, Marek-Yagel, Dina, Vernitsky, Helly, Tzadok, Michal, Barel, Ortal, Eyal, Eran, Ben-Zeev, Bruria, Atzmon, Gil, Anikster, Yair

“…During the past two decades, an emerging group of genes coding for proteins involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis are being…”
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Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia by Heimer, Gali, Woerden, Geeske M., Barel, Ortal, Marek‐Yagel, Dina, Kol, Nitzan, Munting, Johannes B., Borghei, Minoeshka, Atawneh, Osama M., Nissenkorn, Andreea, Rechavi, Gideon, Anikster, Yair, Elgersma, Ype, Kushner, Steven A., Ben Zeev, Bruria

“…We describe the underlying genetic cause of a novel Rett‐like phenotype accompanied by areflexia in three methyl‐CpG‐binding protein 2‐negative individuals…”
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A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies by Pode-Shakked, Ben, Barel, Ortal, Singer, Amihood, Regev, Miriam, Poran, Hana, Eliyahu, Aviva, Finezilber, Yael, Segev, Meirav, Berkenstadt, Michal, Yonath, Hagith, Reznik-Wolf, Haike, Gazit, Yael, Chorin, Odelia, Heimer, Gali, Gabis, Lidia V., Tzadok, Michal, Nissenkorn, Andreea, Bar-Yosef, Omer, Zohar-Dayan, Efrat, Ben-Zeev, Bruria, Mor, Nofar, Kol, Nitzan, Nayshool, Omri, Shimshoviz, Noam, Bar-Joseph, Ifat, Marek-Yagel, Dina, Javasky, Elisheva, Einy, Reviva, Gal, Moran, Grinshpun-Cohen, Julia, Shohat, Mordechai, Dominissini, Dan, Raas-Rothschild, Annick, Rechavi, Gideon, Pras, Elon, Greenbaum, Lior

“…Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA)…”
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Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI) by Marek‐Yagel, Dina, Eliyahu, Aviva, Veber, Alvit, Shalva, Nechama, Philosoph, Amit Mary, Barel, Ortal, Javasky, Elisheva, Pode‐Shakked, Ben, Loewenthal, Neta, Anikster, Yair, Staretz‐Chacham, Orna

“…Maroteaux–Lamy syndrome (MPS‐VI) is a rare autosomal‐recessive disorder with a wide spectrum of clinical manifestations, ranging from an attenuated to a…”
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A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency by Malicdan, May Christine V., Vilboux, Thierry, Ben‐Zeev, Bruria, Guo, Jennifer, Eliyahu, Aviva, Pode‐Shakked, Ben, Dori, Amir, Kakani, Sravan, Chandrasekharappa, Settara C., Ferreira, Carlos R., Shelestovich, Natalia, Marek‐Yagel, Dina, Pri‐Chen, Hadass, Blatt, Ilan, Niederhuber, John E., He, Langping, Toro, Camilo, Taylor, Robert W., Deeken, John, Yardeni, Tal, Wallace, Douglas C., Gahl, William A., Anikster, Yair

“…Primary coenzyme Q10 (CoQ10; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a…”
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A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds by Marek‐Yagel, Dina, Bolkier, Yoav, Barel, Ortal, Vardi, Amir, Mishali, David, Katz, Uriel, Salem, Yishay, Abudi, Shachar, Nayshool, Omri, Kol, Nitzan, Raas‐Rothschild, Annick, Rechavi, Gideon, Anikster, Yair, Pode‐Shakked, Ben

“…The genetic basis of congenital heart malformations associated with disruption of left–right (L–R) asymmetry is broad and heterogenous, with variants in over…”
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A Novel Mutation in the HCN4 Gene Causes Symptomatic Sinus Bradycardia in Moroccan Jews by LAISH-FARKASH, AVISHAG, GLIKSON, MICHAEL, BRASS, DOVRAT, MAREK-YAGEL, DINA, PRAS, ELON, DASCAL, NATHAN, ANTZELEVITCH, CHARLES, NOF, EYAL, REZNIK, HAYA, ELDAR, MICHAEL, LURIA, DAVID

“…Novel HCN4 Mutation. Objectives: To conduct a clinical, genetic, and functional analysis of 3 unrelated families with familial sinus bradycardia (FSB)…”
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Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency by Dionisi-Vici, Carlo, Shteyer, Eyal, Niceta, Marcello, Rizzo, Cristiano, Pode-Shakked, Ben, Chillemi, Giovanni, Bruselles, Alessandro, Semeraro, Michela, Barel, Ortal, Eyal, Eran, Kol, Nitzan, Haberman, Yael, Lahad, Avishai, Diomedi-Camassei, Francesca, Marek-Yagel, Dina, Rechavi, Gideon, Tartaglia, Marco, Anikster, Yair

“…Transient infantile hypertriglyceridemia (HTGT1; OMIM #614480) is a rare autosomal recessive disorder, which manifests in early infancy with transient…”
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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability by Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez, Aurora, Huttlin, Edward L., Paulo, Joao A., Berutti, Riccardo, Benoist, Jean-François, Imbard, Apolline, Dorboz, Imen, Heimer, Gali, Landau, Yuval, Ziv-Strasser, Limor, Malicdan, May Christine V., Gemperle-Britschgi, Corinne, Cremer, Kirsten, Engels, Hartmut, Meili, David, Keller, Irene, Bruggmann, Rémy, Strom, Tim M., Meitinger, Thomas, Mullikin, James C., Schwartz, Gerard, Ben-Zeev, Bruria, Gahl, William A., Harper, J. Wade, Blau, Nenad, Hoffmann, Georg F., Prokisch, Holger, Opladen, Thomas, Schiff, Manuel

“…Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia…”
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Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy by Iuso, Arcangela, Wiersma, Marit, Schüller, Hans-Joachim, Pode-Shakked, Ben, Marek-Yagel, Dina, Grigat, Mathias, Schwarzmayr, Thomas, Berutti, Riccardo, Alhaddad, Bader, Kanon, Bart, Grzeschik, Nicola A., Okun, Jürgen G., Perles, Zeev, Salem, Yishay, Barel, Ortal, Vardi, Amir, Rubinshtein, Marina, Tirosh, Tal, Dubnov-Raz, Gal, Messias, Ana C., Terrile, Caterina, Barshack, Iris, Volkov, Alex, Avivi, Camilla, Eyal, Eran, Mastantuono, Elisa, Kumbar, Muhamad, Abudi, Shachar, Braunisch, Matthias, Strom, Tim M., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger, Haack, Tobias B., Brundel, Bianca J.J.M., Haas, Dorothea, Sibon, Ody C.M., Anikster, Yair

“…Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other…”
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Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene by Marek-Yagel, Dina, Abudi-Sinreich, Shachar, Macarov, Michal, Veber, Alvit, Shalva, Nechama, Philosoph, Amit Mary, Pode-Shakked, Ben, Malicdan, May Christine V., Anikster, Yair

“…Hermansky–Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism (OCA) and bleeding diathesis. To…”
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Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean Fever by Marek‐Yagel, Dina, Berkun, Yackov, Padeh, Shai, Lidar, Merav, Shinar, Yael, Bar‐Joseph, Ifat, Reznik‐Wolf, Haike, Langevitz, Pnina, Livneh, Avi, Pras, Elon

“…Objective To define the frequency of the R92Q tumor necrosis factor receptor–associated periodic syndrome (TRAPS) mutation in patients with familial…”
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Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature by Pode-Shakked, Ben, Vivante, Asaf, Barel, Ortal, Padeh, Shai, Marek-Yagel, Dina, Veber, Alvit, Abudi, Shachar, Eliyahu, Aviva, Tirosh, Irit, Shpilman, Shiri, Shril, Shirlee, Hildebrandt, Friedhelm, Shohat, Mordechai, Anikster, Yair

“…Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the…”
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Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease by Landau, Yuval E., Heimer, Gali, Barel, Ortal, Shalva, Nechama, Marek-Yagel, Dina, Veber, Alvit, Javasky, Elisheva, Shilon, Aya, Nissenkorn, Andreea, Ben-Zeev, Bruria, Anikster, Yair

“…Peroxisomal D-bifunctional protein (DBP) deficiency is an autosomal recessive disorder historically described as a Zellweger-like syndrome comprising neonatal…”
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Clinical disease among patients heterozygous for familial mediterranean fever by Marek‐Yagel, Dina, Berkun, Yackov, Padeh, Shai, Abu, Almogit, Reznik‐Wolf, Haike, Livneh, Avi, Pras, Mordechai, Pras, Elon

“…Objective To define the molecular basis of familial Mediterranean fever (FMF) in patients with only 1 mutation in the MEFV gene. Methods Genetic analysis was…”
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Glutaric Aciduria type I and acute renal failure - Coincidence or causality? by Pode-Shakked, Ben, Marek-Yagel, Dina, Rubinshtein, Marina, Pessach, Itai M, Paret, Gideon, Volkov, Alexander, Anikster, Yair, Lotan, Danny

“…Glutaric Aciduria type I (GA-I) is a rare organic acidemia, caused by mutations in the gene, and characterized by encephalopathic crises with neurological…”
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PANGEN: an online platform for the comparison and creation of diagnostic gene panels by Isakov, Ofer, Marek-Yagel, Dina, Greenberg, Rotem, Naftali, Michal, Ben-Shachar, Shay

“…Targeted gene panel sequencing is used to limit the search for causative genetic variants solely to genes with an established association with the phenotype…”
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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios by Zhu, Xiaolin, Petrovski, Slavé, Xie, Pingxing, Ruzzo, Elizabeth K., Lu, Yi-Fan, McSweeney, K. Melodi, Ben-Zeev, Bruria, Nissenkorn, Andreea, Anikster, Yair, Oz-Levi, Danit, Dhindsa, Ryan S., Hitomi, Yuki, Schoch, Kelly, Spillmann, Rebecca C., Heimer, Gali, Marek-Yagel, Dina, Tzadok, Michal, Han, Yujun, Worley, Gordon, Goldstein, Jennifer, Jiang, Yong-Hui, Lancet, Doron, Pras, Elon, Shashi, Vandana, McHale, Duncan, Need, Anna C., Goldstein, David B.

“…Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are…”
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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder by Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Annable, Marcus, Blue, Elizabeth Marchani, Buckingham, Kati J., Chin, Jennifer, Chong, Jessica X., Cornejo, Rodolfo, Davis, Colleen P., Frazar, Christopher, He, Zongxiao, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Kolar, Tom, Krauter, Stephanie A., Luksic, Daniel, Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Robertson, Peggy D., Santos-Cortez, Regie, Shankar, Aditi, Slattery, Krystal, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Tackett, Monica, Wang, Gao, Wegener, Marc, Weiss, Jeffrey M., Wernick, Riana I., Wheeler, Marsha M., Yi, Qian, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.

“…Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial…”
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