Research Topics
| Virginia E KimonisSummaryAffiliation: Harvard University Country: USA Publications
| Collaborators
|
Detail Information
Publications
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing proteinGiles D J Watts
Division of Genetics, Children s Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts 02115, USA
Nat Genet 36:377-81. 2004..Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway...- Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementiaVirginia E Kimonis
Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
Alzheimer Dis Assoc Disord 19:S44-7. 2005..Identification of VCP as the gene causing IBMPFD has important implications for understanding the pathogenesis of neurodegenerative disorders... - Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathySarju G Mehta
Division of Genetics and Metabolism, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 140:322-30. 2006..Elucidation of the novel molecular basis of this disorder may provide valuable links between bone, collagen and muscle, and targeted therapeutic options... - APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD)Sarju G Mehta
Children s Hospital Clinical Genetics and Metabolism, Boston, Massachusetts, and Department of Neurology and Sanders Brown Center on Aging, University of Kentucky, Lexington, Kentucky, USA
Genet Med 9:9-13. 2007..Modifier genes could account for decreased frontotemporal dementia penetrance. In this study apolipoprotein-E (APOE) was evaluated for this role in IBMPFD families based on its known modifier effect in Alzheimer's disease... 
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementiaVirginia E Kimonis
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 146:745-57. 2008..The presence of PDB in 28 (57%) individuals suggests that measuring serum alkaline phosphatase (ALP) activity may be a useful screen for IBMPFD in patients with myopathy...- Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndromeGiles D J Watts
Division of Genetics and Metabolism, Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 10, Boston, MA, 02115, USA
Hum Genet 118:508-14. 2005..This region also localizes diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH). Identification of the disease gene will be necessary to understand the pathogenesis of this complex disorder... 
An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analysesAngela E Lin
Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA
Am J Med Genet A 155:748-56. 2011..This awareness may influence clinical management of apparently normal MMF-exposed individuals...- Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?Fowzan S Alkuraya
Division of Genetics and Metabolism, Children s Hospital Boston, Harvard Medical School, MA 02115, USA
Birth Defects Res A Clin Mol Teratol 73:569-71. 2005..Trisomy 13 and Smith-Lemli-Opitz syndrome (SLOS) are both well-recognized multiple congenital anomaly/mental retardation syndromes... - Fryns syndrome with Hirschsprung disease: support for possible neural crest involvementFowzan S Alkuraya
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, MA 02130, USA
Am J Med Genet A 132:226-30. 2005..We suspect that the clinical observation about Hirschsprung disease and Fryns syndrome may provide insight into its molecular mechanisms and candidate genes... - Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositisSteven A Greenberg
Department of Neurology, Division of Neuromuscular Disease, Brigham and Women s Hospital, and Harvard Medical School, Boston, MA 02115, USA
Muscle Nerve 36:447-54. 2007..These findings suggest that impairment in the nuclear function of VCP might contribute to the muscle pathology occurring in IBMPFD... - Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genesGiles D J Watts
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 5, Boston, MA 02115, USA
Neuromuscul Disord 13:559-67. 2003..Expression studies indicate that GNE has a tissue-specific splice pattern, with four splice variants. Mutation analysis in three other candidate genes (beta-tropomyosin, NDUFB6 and SMU1) did not identify any mutations... - Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literatureHagit Baris
Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 134:220-2. 2005..This case may represent a mild phenotype of the scalp-ear-nipple syndrome or a newly recognized entity... - NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafnessKerry K Brown
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 149:931-8. 2009..Additionally, this study further highlights the need for high resolution analysis of clinical samples with chromosomal rearrangements as associated deletions may be primarily responsible for the clinical features of these patients... - Immunoglobulin deficiency in Stickler syndromeZamaneh Mikhak
Healthy Link Asthma Education Program, Children's Hospital, Boston, Massachusetts, USA
Am J Med Genet A 140:2824-7. 2006 - Diagnostic utility of array-based comparative genomic hybridization in a clinical settingHagit N Baris
Division of Genetics, Children s Hospital Boston, and Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 143:2523-33. 2007..However, it is best used as an adjunct to chromosomal analysis when a clear genetic diagnosis is unavailable... - Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversionEdward Neilan
Division of Genetics, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
Ophthalmic Genet 27:63-5. 2006..His normal stature and cognitive development distinguish this case from the Peters Plus syndrome. The presence of a cranial meningocele represents a new association with Peters anomaly... - What syndrome is this? Laryngo-onycho-cutaneous syndromeCaroline Choi Kim
Department of Dermatology, Harvard Medical School, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Pediatr Dermatol 24:306-8. 2007 - Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutationsMark S Forman
Department of Pathology, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
J Neuropathol Exp Neurol 65:571-81. 2006..Our findings are consistent with the hypothesis that the pathology associated with VCP gene mutations is the result of impairment of ubiquitin-based degradation pathways... - TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutationsManuela Neumann
Center for Neuropathology and Prion Research, Ludwig Maximilians University, Munich, Germany
J Neuropathol Exp Neurol 66:152-7. 2007..TDP-43 is a common pathologic substrate linking a variety of distinct patterns of FTLD-U pathology caused by different genetic alterations... - Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assayAmy E Roberts
Am J Med Genet A 130:204-7. 2004 - Kousseff syndrome caused by deletion of chromosome 22q11-13Shawnia Forrester
Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois 62794 9658, USA
Am J Med Genet 112:338-42. 2002..We suggest that individuals with neural tube defects associated with other anomalies such as congenital heart defects or cleft palate be evaluated for 22q deletions... - Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?Ute Moog
Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
Am J Med Genet A 143:2973-80. 2007..We hypothesize that ECCL may be caused by mosaicism for a mutated gene involved in benign mesenchymal tumors and in vasculogenesis... - Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32Melissa B Ramocki
Department of Human Genetics, The University of Chicago, 920 E 58th Street, Chicago, IL 60637, USA
Eur J Hum Genet 11:527-34. 2003..Unexpectedly, the rearrangement produced in-frame reciprocal fusion transcripts, making genotype-phenotype correlation difficult... - A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome"Fowzan S Alkuraya
Am J Med Genet A 132:447-9. 2005 - Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23Alexey Shatunov
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-9404, USA
Brain 129:2318-31. 2006..Our findings provide evidence for linkage to a novel susceptibility locus on chromosome 6p23. Analysis of additional ET-affected families is needed to confirm linkage and identify the underlying gene... - Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing?Fowzan S Alkuraya
Prenat Diagn 26:291-3. 2006 - Temtamy-like syndrome associated with translocation of 2p24 and 9q32Anita Talisetti
Division of Genetics and Metabolism, Southern Illinois University School of Medicine, Springfield, IL, USA
Clin Dysmorphol 12:175-7. 2003..This is the first documented case of Temtamy syndrome with a specific chromosomal anomaly, and will assist with the elucidation of the syndrome's underlying genetic defect... - Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of boneGavin J A Lucas
Department of Medicine and Therapeutics, University of Aberdeen, UK
Bone 38:280-5. 2006..Genetic variation in VCP does not appear to be a common cause of familial or sporadic PDB in the absence of myopathy and dementia... - Heterogeneity in familial dominant Paget disease of bone and muscular dystrophyBrook Waggoner
Division of Genetics and Metabolism, Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois, USA
Am J Med Genet 108:187-91. 2002..1-q12, thus providing evidence for genetic heterogeneity among families with the unique combination of muscular dystrophy and Paget disease of bone...