Virginia E Kimonis
Overview
Explore the profile of Virginia E Kimonis including associated specialties, affiliations and a list of published articles.
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82
Citations
3306
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Recent Articles
1.
Nalbandian A, Khan A, Srivastava R, Llewellyn K, Tan B, Shukr N, et al.
Inflammation
. 2025 Jan;
PMID: 39825195
No abstract available.
2.
Pehlivan D, Bengtsson J, Bajikar S, Grochowski C, Lun M, Gandhi M, et al.
Genome Med
. 2024 Dec;
16(1):146.
PMID: 39696717
Background: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic...
3.
Schmok T, Surampalli A, Khare M, Zandihaghighi S, Baghbaninogourani R, Patolia B, et al.
Am J Med Genet A
. 2024 Jun;
194(10):e63724.
PMID: 38837660
Prader-Willi syndrome (PWS) is the most common genetic syndrome with obesity and results from loss of expression of paternally inherited genes on chromosome 15q11-q13 by a variety of mechanisms which...
4.
Wang S, Tapia D, Kimonis V, Lombardo D
J Cardiovasc Echogr
. 2021 Dec;
31(3):131-136.
PMID: 34900547
Background: Cardiovascular disease is the most common cause of death among Fabry disease patients, who carry significantly increased risk for heart failure and sudden cardiac death. Echocardiographic strain imaging and...
5.
Korb M, Kimonis V, Mozaffar T
Muscle Nerve
. 2020 Nov;
63(4):442-454.
PMID: 33145792
Multisystem proteinopathy (MSP) is a pleiotropic group of inherited disorders that cause neurodegeneration, myopathy, and bone disease, and share common pathophysiology. Originally referred to as inclusion body myopathy associated with...
6.
Montes A, Osann K, Gold J, Tamura R, Driscoll D, Butler M, et al.
Genes (Basel)
. 2020 Oct;
11(11).
PMID: 33114160
Prader-Willi syndrome (PWS) is a complex multisystemic condition caused by a lack of paternal expression of imprinted genes from the 15q11.2-q13 region. Limited literature exists on the association between molecular...
7.
Oldzej J, Manazir J, Gold J, Mahmoud R, Osann K, Flodman P, et al.
Am J Med Genet A
. 2019 Nov;
182(1):169-175.
PMID: 31782896
Prader-Willi syndrome (PWS) affects 1/15,000-1/30,000 live births and is characterized by lack of expression of paternally inherited genes on 15q11.2-15q13 caused by paternal deletions, maternal uniparental disomy (UPD), or imprinting...
8.
Kimonis V, Tamura R, Gold J, Patel N, Surampalli A, Manazir J, et al.
Genes (Basel)
. 2019 Nov;
10(11).
PMID: 31698873
Prader-Willi syndrome (PWS) is an imprinting genetic disorder characterized by lack of expression of genes on the paternal chromosome 15q11-q13 region. Growth hormone (GH) replacement positively influences stature and body...
9.
Reuser A, van der Ploeg A, Chien Y, Llerena Jr J, Abbott M, Clemens P, et al.
Hum Mutat
. 2019 Jul;
40(11):2146-2164.
PMID: 31342611
Identification of variants in the acid α-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on the number, nature, frequency, and geographic distribution...
10.
Butler M, Matthews N, Patel N, Surampalli A, Gold J, Khare M, et al.
Am J Med Genet A
. 2019 Jul;
179(9):1826-1835.
PMID: 31313492
Prader-Willi syndrome (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and failure to thrive, hypogenitalism/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity....