Professor, Pediatrics, University of California, Irvine, School of Medicine

Medical Genetics

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

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• 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

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• University Of Southampton School Of Medicine

• Mass Gen Hospital

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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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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