Virginia E Kimonis

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    Giles 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
  2. ncbi request reprint Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia
    Virginia E Kimonis
    Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
    Alzheimer Dis Assoc Disord 19:S44-7. 2005
  3. ncbi request reprint Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy
    Sarju 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
  4. ncbi request reprint 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
  5. pmc Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
    Virginia 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
  6. ncbi request reprint Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome
    Giles 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
  7. doi request reprint An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses
    Angela E Lin
    Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA
    Am J Med Genet A 155:748-56. 2011
  8. ncbi request reprint 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
  9. ncbi request reprint Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement
    Fowzan 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
  10. ncbi request reprint Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositis
    Steven 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

Collaborators

  • Fowzan S Alkuraya
  • Mira B Irons
  • Michael Whyte
  • Angela E Lin
  • A Pestronk
  • Deborah Novack
  • Mark A Lovell
  • Zamaneh Mikhak
  • S A Greenberg
  • ANTHONY ARNOLD AMATO
  • William B Dobyns
  • Ute Moog
  • John B Mulliken
  • Tim Cundy
  • J P Walsh
  • Amy E Roberts
  • Stuart H Ralston
  • M S Forman
  • Giles D J Watts
  • Sarju G Mehta
  • Sheena Ramdeen
  • Steven Mumm
  • Kerry K Brown
  • Margaret J Kovach
  • Caroline Choi Kim
  • Hagit N Baris
  • Charles D Smith
  • Manuela Neumann
  • Gavin J A Lucas
  • Wen Hann Tan
  • Edward Neilan
  • Alexey Shatunov
  • Sara Jane Hamilton
  • Hagit Baris
  • Melissa B Ramocki
  • Anita Talisetti
  • Brook Waggoner
  • Shawnia Forrester
  • Richard L Robertson
  • Michael Matos
  • Cynthia C Morton
  • Shuling Xiong
  • Ian R Mackenzie
  • Ellen Pfendner
  • Jennifer L Adamson
  • Philip J Boyer
  • Marilyn G Liang
  • Nigel J Cairns
  • Mike Hutton
  • J Paul Taylor
  • Hans A Kretzschmar
  • Geanie Umberger
  • William R Markesbery
  • Tracy L Stewart
  • Yana Pikman
  • Joseph Jankovic
  • Jay Ji
  • Andrew B Singleton
  • Christine Briggs
  • John Hardy
  • Ayush Dagvadorj
  • Mark Hallett
  • Nyamkhishig Sambuughin
  • William D Fraser
  • Hee Suk Lee
  • Geoff C Nicholson
  • Yiping Zhang
  • Lynne J Hocking
  • Rodger Elble
  • Barbara McGillivray
  • Lev G Goldfarb
  • Barbara Mc Gillivray
  • Chengfeng Zhao
  • Jill Wymer
  • Daniel Darvish
  • David Gregory
  • Shawnia R Forrester
  • Lisa Johnson
  • M Thorne
  • David H Ledbetter
  • Carlos Cardoso
  • James Dowling
  • Christa Lese Martin
  • Michael C Schneider
  • Alyssa Gross
  • June Chung
  • M J Kovach
  • Kathleen J Millen
  • Inessa Grinberg
  • Marc Winkelman

Detail Information

Publications29

  1. ncbi request reprint Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    Giles 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...
  2. ncbi request reprint Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia
    Virginia 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...
  3. ncbi request reprint Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy
    Sarju 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...
  4. ncbi request reprint 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...
  5. pmc Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
    Virginia 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...
  6. ncbi request reprint Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome
    Giles 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...
  7. doi request reprint An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses
    Angela 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...
  8. ncbi request reprint 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...
  9. ncbi request reprint Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement
    Fowzan 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...
  10. ncbi request reprint Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositis
    Steven 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...
  11. ncbi request reprint Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes
    Giles 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...
  12. ncbi request reprint Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature
    Hagit 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...
  13. pmc NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness
    Kerry 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...
  14. ncbi request reprint Immunoglobulin deficiency in Stickler syndrome
    Zamaneh Mikhak
    Healthy Link Asthma Education Program, Children s Hospital, Boston, Massachusetts, USA
    Am J Med Genet A 140:2824-7. 2006
  15. ncbi request reprint Diagnostic utility of array-based comparative genomic hybridization in a clinical setting
    Hagit 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...
  16. ncbi request reprint Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion
    Edward 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...
  17. ncbi request reprint What syndrome is this? Laryngo-onycho-cutaneous syndrome
    Caroline Choi Kim
    Department of Dermatology, Harvard Medical School, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Pediatr Dermatol 24:306-8. 2007
  18. ncbi request reprint Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations
    Mark 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...
  19. ncbi request reprint TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations
    Manuela 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...
  20. ncbi request reprint 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 assay
    Amy E Roberts
    Am J Med Genet A 130:204-7. 2004
  21. ncbi request reprint Kousseff syndrome caused by deletion of chromosome 22q11-13
    Shawnia 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...
  22. ncbi request reprint 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...
  23. ncbi request reprint 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 9q32
    Melissa 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...
  24. ncbi request reprint 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
  25. ncbi request reprint Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23
    Alexey 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...
  26. ncbi request reprint 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
  27. ncbi request reprint Temtamy-like syndrome associated with translocation of 2p24 and 9q32
    Anita 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...
  28. ncbi request reprint Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone
    Gavin 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...
  29. ncbi request reprint Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy
    Brook 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...