Professor, Pediatrics, University of California, Irvine, School of Medicine
Medical Genetics
Dr. Virginia E. Kimonis, MD
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Dr. Virginia E. Kimonis practices Medical Genetics. Virginia E. Kimonis is a published doctor and has 58 publications published. The lastest was: 'In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics.'
Publications
- Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome.
- A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation.
- Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.
- In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics.
- Growth charts for non-growth hormone treated Prader-Willi syndrome.
- Targeted Excision of VCP R155H Mutation by Cre-LoxP Technology as a Promising Therapeutic Strategy for VCP Disease.
- Global Gene Expression Profiling in R155H Knock-In Murine Model of VCP Disease.
- Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2.
- A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
- Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease.
- Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi syndrome.
- Cytokine Profiling in Patients with VCP-Associated Disease.
- Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis.
- Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology.
- Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.
- Early-onset Alzheimers and Cortical Vision Impairment in a Woman With Valosin-containing Protein Disease Associated With 2 APOE [Latin Small Letter Open E]4/APOE [Lati...
- Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1? Subunit Gene (PDHA1).
- Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
- A progressive translational mouse model of human valosin-containing protein disease: The VCP(R155H/+) mouse.
- Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
- Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.
- Methylation-Specific Multiplex Ligation-Dependent Probe Amplification and Identification of Deletion Genetic Subtypes in Prader-Willi Syndrome.
- The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic la...
- Radiological features of Paget disease of bone associated with VCP myopathy.
- An additional patient with mycophenolate mofetil embryopathy: Cardiac and facial analyses.
- Mutation in PQBP1 is associated with periventricular heterotopia.
- VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease.
- Humoral immune deficiency and hemifacial microsomia seen in one family.
- Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
- NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.
- Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.
- Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
- Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.
- Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositis.
- What syndrome is this? Laryngo-onycho-cutaneous syndrome.
- TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations.
- APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD).
- Immunoglobulin deficiency in Stickler syndrome.
- Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
- Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.
- Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations.
- Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy.
- Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.
- Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.
- Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
- Cockayne syndrome: the developing phenotype.
- Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.
- A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome".
- Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.
- Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.
- Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in ...
- Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.
- Kousseff syndrome caused by deletion of chromosome 22q11-13.
- Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.
- Dysmorphology of inborn errors of metabolism.
- Clinical utility and dilemmas of SNP microarray testing.
- Exercise Training Reverses Skeletal Muscle Atrophy in an Experimental Model of VCP Disease.
Schools
University Of Southampton School Of Medicine
Mass Gen Hospital
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Massachusetts General Hospital -
University of Southampton Faculty of Medicine
Hospital
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Long Beach Memorial Medical Center -
UC Irvine Medical Center -
Children's Hospital of Orange County
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