Pavel Pichurin
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Explore the profile of Pavel Pichurin including associated specialties, affiliations and a list of published articles.
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Articles
20
Citations
363
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Recent Articles
1.
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease
Pinard A, Ye W, Fraser S, Rosenfeld J, Pichurin P, Hickey S, et al.
Brain
. 2023 May;
146(9):3616-3623.
PMID: 37253099
Moyamoya disease, a cerebrovascular disease leading to strokes in children and young adults, is characterized by progressive occlusion of the distal internal carotid arteries and the formation of collateral vessels....
2.
Guenzel A, Hall P, Scott A, Lam C, Chang I, Thies J, et al.
JIMD Rep
. 2021 Jul;
60(1):67-74.
PMID: 34258142
Background: Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for...
3.
Cannata Serio M, Graham L, Ashikov A, Larsen L, Raymond K, Timal S, et al.
Hepatology
. 2020 Mar;
72(6):1968-1986.
PMID: 32145091
Background And Aims: Vacuolar H+-ATP complex (V-ATPase) is a multisubunit protein complex required for acidification of intracellular compartments. At least five different factors are known to be essential for its...
4.
Sewani M, Nugent K, Blackburn P, Tarnowski J, Hernandez-Garcia A, Amiel J, et al.
Am J Med Genet A
. 2019 Dec;
182(4):652-658.
PMID: 31883306
The non-POU domain containing, octamer-binding gene, NONO, is located on chromosome Xq13.1 and encodes a member of a small family of RNA and DNA binding proteins that perform a variety...
5.
Kaiwar C, Kruisselbrink T, Kudva Y, Klee E, Pichurin P
Clin Immunol
. 2018 Oct;
207:55-57.
PMID: 30282051
We report a 34-year-old male patient with a novel variant in KMT2D gene, which finally ended a quest for a diagnosis that was clinically suspected in the past, prior the...
6.
Boczek N, Hopp K, Benoit L, Kraft D, Cousin M, Blackburn P, et al.
Eur J Hum Genet
. 2018 Aug;
26(12):1797-1809.
PMID: 30097616
Whole exome sequencing (WES) is utilized in diagnostic odyssey cases to identify the underlying genetic cause associated with complex phenotypes. Recent publications suggest that WES reveals the genetic cause in...
7.
Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, et al.
Case Rep Genet
. 2017 May;
2017:9184265.
PMID: 28487785
encodes the -actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies....
8.
Pichurin P, Pichurina O, Chazenbalk G, Paras C, Chen C, Rapoport B, et al.
Endocrinology
. 2017 Feb;
143(4):1182-1189.
PMID: 28204436
No abstract available.
9.
Aronson M, Gallinger S, Cohen Z, Cohen S, Dvir R, Elhasid R, et al.
Am J Gastroenterol
. 2016 Jan;
111(2):275-84.
PMID: 26729549
Objectives: Hereditary biallelic mismatch repair deficiency (BMMRD) is caused by biallelic mutations in the mismatch repair (MMR) genes and manifests features of neurofibromatosis type 1, gastrointestinal (GI) polyposis, and GI,...
10.
Goodenberger M, Thomas B, Riegert-Johnson D, Boland C, Plon S, Clendenning M, et al.
Genet Med
. 2015 Apr;
18(1):13-9.
PMID: 25856668
Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch syndrome. The penetrance of the cancer and tumor spectrum has been repeatedly studied, and multiple professional...