Publications by authors named "Ruti Parvari"

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Plekhm2 acts as an autophagy modulator in murine heart and cardiofibroblasts.
Sharon Etzion, Raneen Hijaze, Liad Segal, Sofia Pilcha, Dana Masil, Ruti Parvari

Sci Rep· June 2024

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Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.
Nataly Korover, Sharon Etzion, Alexander Cherniak, Tatiana Rabinski, Aviva Levitas, Ruti Parvari

Biol Res· June 2023

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Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred.
Pierre Majdalani, Uri Yoel, Tayseer Nasasra, Merav Fraenkel, Alon Haim, Ruti Parvari

Int J Mol Sci· May 2023

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A Novel Mutation in the Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.
Aviva Levitas, Liam Aspit, Neta Lowenthal, David Shaki, Hanna Krymko, Ruti Parvari

Int J Mol Sci· May 2023

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A Missense Variation in Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans.
Pierre Majdalani, Aviva Levitas, Hanna Krymko, Leonel Slanovic, Alex Braiman, Ruti Parvari

Int J Mol Sci· January 2023

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Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes.
Liam Aspit, Noga Arwas, Hanna Krymko, Yoram Etzion, Ruti Parvari

J Pediatr Genet· December 2022

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Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.
Baker Elsana, Ahed Imtirat, Ronit Yagev, Libe Gradstein, Pierre Majdalani, Ruti Parvari

Am J Med Genet A· December 2022

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Dock10 Regulates Cardiac Function under Neurohormonal Stress.
Liad Segal, Sharon Etzion, Sigal Elyagon, Moran Shahar, Hadar Klapper-Goldstein, Ruti Parvari

Int J Mol Sci· August 2022

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Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility.
Maram Arafat, Sandra E Kleiman, Ali AbuMadighem, Atif Zeadna, Eliahu Levitas, Ruti Parvari

Eur J Hum Genet· December 2021

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Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.
Yaniv Faingelernt, Eli Hershkovitz, Bassam Abu-Libdeh, Amal Abedrabbo, Sara Abu-Rmaileh Amro, Ruti Parvari

Am J Med Genet A· April 2021

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A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.
Aviva Levitas, Emad Muhammad, Yuan Zhang, Isaac Perea Gil, Ricardo Serrano, Ruti Parvari

PLoS Genet· September 2020

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Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patient.
Maram Arafat, Atif Zeadna, Eliahu Levitas, Iris Har Vardi, Benzion Samueli, Ruti Parvari

Mol Genet Genomic Med· July 2020

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Mutation in (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics.
Maram Arafat, Avi Harlev, Iris Har-Vardi, Eliahu Levitas, Tsvia Priel, Ruti Parvari

J Med Genet· June 2020

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Congenital thrombotic thrombocytopenic purpura in a large cohort of patients carrying a novel mutation in ADAMTS13 gene.
Oleg Pikovsky, Maram Arafat, Hilla Ovadia, Yoav Sharoni, Kayed Al-Athamen, Ruti Parvari

Thromb Res· January 2020

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CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy.
Liam Aspit, Aviva Levitas, Sharon Etzion, Hanna Krymko, Leonel Slanovic, Ruti Parvari

J Med Genet· April 2019

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Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.
Maram Arafat, Iris Har-Vardi, Avi Harlev, Eliahu Levitas, Atif Zeadna, Ruti Parvari

J Med Genet· September 2017

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A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.
Orit Reish, Liam Aspit, Arielle Zouella, Yehudah Roth, Sylvie Polak-Charcon, Ruti Parvari

Hum Mutat· August 2016

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D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias.
Aviva Levitas, Yuval Konstantino, Emad Muhammad, Zaid Afawi, Jean Marc Weinstein, Ruti Parvari

Eur J Hum Genet· May 2016

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PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.
Emad Muhammad, Aviva Levitas, Sonia R Singh, Alex Braiman, Rivka Ofir, Ruti Parvari

Hum Mol Genet· December 2015

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Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation.
Jeong Hee Hong, Emad Muhammad, Changyu Zheng, Eli Hershkovitz, Soliman Alkrinawi, Ruti Parvari

J Physiol· December 2015

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Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.
Neta Loewenthal, Alon Haim, Ruti Parvari, Eli Hershkovitz

Am J Med Genet A· December 2015

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Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency.
Eli Hershkovitz, Maram Arafat, Neta Loewenthal, Alon Haim, Ruti Parvari

J Pediatr Endocrinol Metab· September 2015

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Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function.
Sitvanit Haziza, Roberta Magnani, Dima Lan, Omer Keinan, Ann Saada, Ruti Parvari

PLoS Genet· August 2015

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Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency.
Yael Feinstein, Baruch Yerushalmi, Neta Loewenthal, Soliman Alkrinawi, Ohad S Birk, Ruti Parvari

Horm Res Paediatr· February 2015

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A novel mutation in SCN9A in a child with congenital insensitivity to pain.
Zamir Shorer, Einav Wajsbrot, Tamir-Hostovsky Liran, Jacov Levy, Ruti Parvari

Pediatr Neurol· January 2014

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