R Parvari
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Explore the profile of R Parvari including associated specialties, affiliations and a list of published articles.
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38
Citations
473
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Recent Articles
1.
Broides A, Shubinsky G, Parvari R, Grimbacher B, Somech R, Garty B, et al.
Int J Immunogenet
. 2009 May;
36(4):223-6.
PMID: 19473215
Manifestations of immunodeficiency within the same family are presumed to be the same disease. We report a consanguineous extended family where four patients have immunodeficiency, three have X-linked agammaglobulinaemia and...
2.
Szeltner Z, Alshafee I, Juhasz T, Parvari R, Polgar L
Cell Mol Life Sci
. 2005 Sep;
62(19-20):2376-81.
PMID: 16143824
The PREPL (previously called KIAA0436) gene encodes a putative serine peptidase from the prolyl oligopeptidase family. A chromosomal deletion involving the PREPL gene leads to a severe syndrome with multiple...
3.
Melamed I, Levy J, Parvari R, Gelfand E
J Clin Immunol
. 2004 May;
24(4):441-8.
PMID: 15163901
Congenital insensitivity to pain with anhidrosis is a syndrome characterized by loss of pain and sensation. The condition frequently evolves into deep wounds and prolonged healing times. Anhidrosis is another...
4.
Bar-On E, Weigl D, Parvari R, Katz K, Weitz R, Steinberg T
J Bone Joint Surg Br
. 2002 Apr;
84(2):252-7.
PMID: 11922368
We reviewed 13 patients with congenital insensitivity to pain. A quantitative sweat test was carried out in five and an intradermal histamine test in ten. DNA examination showed specific mutations...
5.
Parvari R, Brodyansky I, Elpeleg O, Moses S, Landau D, Hershkovitz E
Am J Hum Genet
. 2001 Aug;
69(4):869-75.
PMID: 11524703
Deletions ranging from 100 Kb to 1 Mb--too small to be detected under the microscope--may still involve dozens of genes, thus causing microdeletion syndromes. The vast majority of these syndromes...
6.
Parvari R, Shnaider A, Basok A, Katchko L, Borochovich Z, Kanis A, et al.
Am J Med Genet
. 2001 Mar;
99(3):204-9.
PMID: 11241491
Autosomal dominant familial nephropathies with adult onset, no macroscopic cysts, and progressive deterioration include medullary cystic disease (ADMCKD) as well as other less specific entities. We studied a kindred of...
7.
Miura Y, Hershkovitz E, Inagaki A, Parvari R, Oiso Y, Phillip M
J Clin Endocrinol Metab
. 2000 Nov;
85(10):3687-9.
PMID: 11061524
T4-binding globulin (TBG) is the major thyroid hormone transport protein in human serum. Inherited TBG abnormalities do not usually alter the metabolic status and are transmitted in X-linked inheritance. A...
8.
Hershkovitz E, Hershkovitz R, Hertzug L, Gorodischer R, Mazor M, Parvari R
Prenat Diagn
. 2000 Jun;
20(6):475-7.
PMID: 10861712
We used linkage analysis for prenatal diagnosis of the recently reported hypoparathyroidism, retardation, and dysmorphism (HRD) syndrome. Five cases from four families were evaluated. Three fetuses were carriers and were...
9.
Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, et al.
Am J Med Genet
. 2000 Jun;
92(5):353-60.
PMID: 10861667
Congenital insensitivity to pain with anhidrosis (CIPA), a rare and severe disorder, comprises absence of sensation to noxious stimuli, inability to sweat, and recurrent episodes of hyperthermia. It has a...
10.
Leiberman E, Pesler D, Parvari R, Elbedour K, Brown M, Parks J, et al.
Am J Med Genet
. 2000 Mar;
90(3):188-92.
PMID: 10678654
Isolated growth hormone deficiency (IGHD) IB is an autosomal recessive disorder characterized by a good response to exogenous growth hormone (GH) treatment without development of anti-GH antibodies. Patients with IGHD...