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Items: 1 to 20 of 76

1.

CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy.

Aspit L, Levitas A, Etzion S, Krymko H, Slanovic L, Zarivach R, Etzion Y, Parvari R.

J Med Genet. 2019 Apr;56(4):228-235. doi: 10.1136/jmedgenet-2018-105498. Epub 2018 Dec 5.

PMID:
30518548
2.

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.

Arafat M, Har-Vardi I, Harlev A, Levitas E, Zeadna A, Abofoul-Azab M, Dyomin V, Sheffield VC, Lunenfeld E, Huleihel M, Parvari R.

J Med Genet. 2017 Sep;54(9):633-639. doi: 10.1136/jmedgenet-2017-104514. Epub 2017 May 23.

PMID:
28536242
3.

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

Reish O, Aspit L, Zouella A, Roth Y, Polak-Charcon S, Baboushkin T, Benyamini L, Scheetz TE, Mussaffi H, Sheffield VC, Parvari R.

Hum Mutat. 2016 Aug;37(8):727-31. doi: 10.1002/humu.22998. Epub 2016 May 9.

4.

Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.

Loewenthal N, Haim A, Parvari R, Hershkovitz E.

Am J Med Genet A. 2015 Dec;167A(12):3139-43. doi: 10.1002/ajmg.a.37294. Epub 2015 Aug 19.

PMID:
26768186
5.

Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation.

Hong JH, Muhammad E, Zheng C, Hershkovitz E, Alkrinawi S, Loewenthal N, Parvari R, Muallem S.

J Physiol. 2015 Dec 15;593(24):5299-312. doi: 10.1113/JP271378. Epub 2015 Dec 7.

6.

PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.

Muhammad E, Levitas A, Singh SR, Braiman A, Ofir R, Etzion S, Sheffield VC, Etzion Y, Carrier L, Parvari R.

Hum Mol Genet. 2015 Dec 20;24(25):7227-40. doi: 10.1093/hmg/ddv423. Epub 2015 Oct 12.

7.

D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias.

Levitas A, Konstantino Y, Muhammad E, Afawi Z, Marc Weinstein J, Amit G, Etzion Y, Parvari R.

Eur J Hum Genet. 2016 May;24(5):666-71. doi: 10.1038/ejhg.2015.195. Epub 2015 Sep 30.

8.

Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function.

Haziza S, Magnani R, Lan D, Keinan O, Saada A, Hershkovitz E, Yanay N, Cohen Y, Nevo Y, Houtz RL, Sheffield VC, Golan H, Parvari R.

PLoS Genet. 2015 Aug 6;11(8):e1005388. doi: 10.1371/journal.pgen.1005388. eCollection 2015 Aug.

9.

Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency.

Hershkovitz E, Arafat M, Loewenthal N, Haim A, Parvari R.

J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):1187-90. doi: 10.1515/jpem-2015-0075.

PMID:
25879317
10.

The Effect of Fabric Type of Common Iranian Working Clothes on the Induced Cardiac and Physiological Strain Under Heat Stress.

Parvari RA, Aghaei HA, Dehghan H, Khademi A, Maracy MR, Dehghan SF.

Arch Environ Occup Health. 2015;70(5):272-8. doi: 10.1080/19338244.2014.891965.

PMID:
24971773
11.

Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency.

Feinstein Y, Yerushalmi B, Loewenthal N, Alkrinawi S, Birk OS, Parvari R, Hershkovitz E.

Horm Res Paediatr. 2014;81(5):336-42. doi: 10.1159/000358327. Epub 2014 Apr 4.

PMID:
24714577
12.

A novel mutation in SCN9A in a child with congenital insensitivity to pain.

Shorer Z, Wajsbrot E, Liran TH, Levy J, Parvari R.

Pediatr Neurol. 2014 Jan;50(1):73-6. doi: 10.1016/j.pediatrneurol.2013.09.007. Epub 2013 Nov 1.

PMID:
24188911
13.

Congenital myopathy is caused by mutation of HACD1.

Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R.

Hum Mol Genet. 2013 Dec 20;22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9.

14.

Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.

Tee MK, Abramsohn M, Loewenthal N, Harris M, Siwach S, Kaplinsky A, Markus B, Birk O, Sheffield VC, Parvari R, Hershkovitz E, Miller WL.

J Clin Endocrinol Metab. 2013 Feb;98(2):713-20. doi: 10.1210/jc.2012-2828. Epub 2013 Jan 21. Erratum in: J Clin Endocrinol Metab. 2013 Oct;98(10):4213. Pavari, Ruti [corrected to Parvari, Ruti].

15.

Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence.

Magen S, Magnani R, Haziza S, Hershkovitz E, Houtz R, Cambi F, Parvari R.

PLoS One. 2012;7(12):e52425. doi: 10.1371/journal.pone.0052425. Epub 2012 Dec 20.

16.

The mutations associated with dilated cardiomyopathy.

Parvari R, Levitas A.

Biochem Res Int. 2012;2012:639250. doi: 10.1155/2012/639250. Epub 2012 Jul 9.

17.

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R.

Am J Hum Genet. 2011 May 13;88(5):599-607. doi: 10.1016/j.ajhg.2011.03.018. Epub 2011 Apr 14.

18.

Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.

Rachmiel M, Bistritzer T, Hershkoviz E, Khahil A, Epstein O, Parvari R.

Horm Res Paediatr. 2011;75(5):362-6. doi: 10.1159/000323441. Epub 2011 Feb 8.

PMID:
21304230
19.

Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.

Muhammad E, Leventhal N, Parvari G, Hanukoglu A, Hanukoglu I, Chalifa-Caspi V, Feinstein Y, Weinbrand J, Jacoby H, Manor E, Nagar T, Beck JC, Sheffield VC, Hershkovitz E, Parvari R.

Hum Genet. 2011 Apr;129(4):397-405. doi: 10.1007/s00439-010-0930-4. Epub 2010 Dec 24.

PMID:
21184099
20.

KinSNP software for homozygosity mapping of disease genes using SNP microarrays.

Amir el-AD, Bartal O, Morad E, Nagar T, Sheynin J, Parvari R, Chalifa-Caspi V.

Hum Genomics. 2010 Aug;4(6):394-401.

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