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Virginia Kimonis

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S G Mehta; K E Osann; C D Smith; G D J Watts; E Dec; S Donkervoort; M Khare; Tahseen Mozaffar; A Nalbandian; M Pasquali; J Platt; R Ramani; M Simon; A Wang; Virginia E Kimonis
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.
Angèle Nalbandian; Christopher Nguyen; Jouni Vesa; Giles Watts; John H Weiss; Hong Z Yin; Mallikarjun Badadani; Vincent J Caiozzo; Veeral Katheria; Katrina J Llewellyn; Tahseen Mozaffar; Jogeshwar Mukherjee; Virginia E Kimonis
A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse.
Kimberly A Aldinger; A James Barkovich; Brian Chung; Bridget Fernandez; Denise Horn; Virginia E Kimonis; Eva Klopocki; Jillene Kogan; Kathleen J Millen; Annick Toutain; Rosanna Weksberg; William B Dobyns
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

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All Publications

2013: S G Mehta; K E Osann; C D Smith; G D J Watts; E Dec; S Donkervoort; M Khare; Tahseen Mozaffar; A Nalbandian; M Pasquali; J Platt; R Ramani; M Simon; A Wang; Virginia E Kimonis
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.
Clinical genetics 2013;83(5):422-31.
2013: Angèle Nalbandian; Christopher Nguyen; Jouni Vesa; Giles Watts; John H Weiss; Hong Z Yin; Mallikarjun Badadani; Vincent J Caiozzo; Veeral Katheria; Katrina J Llewellyn; Tahseen Mozaffar; Jogeshwar Mukherjee; Virginia E Kimonis
A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse.
Muscle & nerve 2013;47(2):260-70.
2013: Kimberly A Aldinger; A James Barkovich; Brian Chung; Bridget Fernandez; Denise Horn; Virginia E Kimonis; Eva Klopocki; Jillene Kogan; Kathleen J Millen; Annick Toutain; Rosanna Weksberg; William B Dobyns
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
American journal of medical genetics. Part A 2013;161A(1):131-6.
2013: Virginia E Kimonis; Behram Pastakia; Kathryn E Singh; Rocksheng Zhong; John J Digiovanna; Sherri J Bale
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(1):79-83.
2012: Benjamin D Solomon; Dick Tibboel; Kelly A Bear; Annelies de Klein; Virginia E Kimonis; Heiko Reutter; Daryl A Scott; Charles Shaw-Smith; Philip F Giampietro
Clinical geneticists' views of VACTERL/VATER association.
American journal of medical genetics. Part A 2012;158A(12):3087-100.
2012: Angèle Nalbandian; Shlomit Radom-Aizik; Charles Smith; Jouni Vesa; Eric Dec; Svetlana Ghimbovschi; Eric Hoffman; Susan Knoblach; Barbara Martin; Virginia E Kimonis
Global gene profiling of VCP-associated inclusion body myopathy.
Clinical and translational science 2012;5(3):226-34.
2012: Rebecca S Henkhaus; Soo-Jeong Kim; Virginia E Kimonis; Daniel J Driscoll; Elisabeth M Dykens; June-Anne Gold; Merlin G Butler
Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome.
Genetic testing and molecular biomarkers 2012;16(3):178-86.
2012: Farzin Farpour; Sandra Donkervoort; Barbara Martin; Kathryn Osann; Charles Smith; Jamshid Tehranzadeh; Pari Vanjara; Virginia E Kimonis
Radiological features of Paget disease of bone associated with VCP myopathy.
Skeletal radiology 2012;41(3):329-37.
2012: Angèle Nalbandian; Christopher Nguyen; Giles Watts; John Weiss; Hong Z Yin; Mallikarjun Badadani; Robert Edwards; Negar Khanlou; Masashi Kitazawa; Katrina J Llewellyn; Tahseen Mozaffar; Jogeshwar Mukherjee; Virginia E Kimonis
The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology.
PloS one 2012;7(9):e46308.
2012: Hong Z Yin; C-I Hsu; Virginia E Kimonis; S Li; K J Llewellyn; Tahseen Mozaffar; A Nalbandian; John H Weiss
Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice.
Cell death & disease 2012;3():e374.
2011: Angèle Nalbandian; Christopher Nguyen; Prachi Rana; Charles Smith; Jouni Vesa; Giles D J Watts; Mallikarjun Badadani; Vincent Caiozzo; Eric Dec; Sandra Donkervoort; Veeral Katheria; Barbara Martin; Jogeshwar Mukherjee; Virginia E Kimonis
The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.
Journal of molecular neuroscience : MN 2011;45(3):522-31.
2011: Angela E Lin; Kathryn E Singh; Arthur Strauss; Son Nguyen; Kristyn Rawson; Virginia E Kimonis
An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses.
American journal of medical genetics. Part A 2011;155A(4):748-56.
2011: Hailing Su; Weiwei Fan; Pinar E Coskun; Jouni Vesa; June-Anne Gold; Yong-Hui Jiang; Prasanth Potluri; Vincent Procaccio; Allan Acab; John H Weiss; Douglas C Wallace; Virginia E Kimonis
Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome.
Neuroscience letters 2011;487(2):129-33.
2010: Volney L Sheen; Alcy R Torres; Xiang Du; Brenda Barry; Christopher Walsh; Virginia E Kimonis
Mutation in PQBP1 is associated with periventricular heterotopia.
American journal of medical genetics. Part A 2010;152A(11):2888-90.
2010: Sarika U Peters; Lynne M Bird; Virginia E Kimonis; Daniel G Glaze; Lina M Shinawi; Terry Jo Bichell; Rene Barbieri-Welge; Mark Nespeca; Irina Anselm; Susan E Waisbren; Erica Sanborn; Qin Sun; William E O'Brien; Arthur L Beaudet; Carlos A Bacino
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
American journal of medical genetics. Part A 2010;152A(8):1994-2001.
2010: Mallikarjun Badadani; Angèle Nalbandian; Giles D Watts; Jouni Vesa; Masashi Kitazawa; Hailing Su; Jasmin Tanaja; Eric Dec; Douglas C Wallace; Jogeshwar Mukherjee; Vincent J Caiozzo; Matthew Warman; Virginia E Kimonis
VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease.
PloS one 2010;5(10):.
2009: Jouni Vesa; Hailing Su; Giles D Watts; Sabine Krause; Maggie C Walter; Barbara Martin; Charles Smith; Douglas C Wallace; Virginia E Kimonis
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts.
Neuromuscular disorders : NMD 2009;19(11):766-72.
2009: Zamaneh Mikhak; John B Mulliken; John Lee; Francisco A Bonilla; Virginia E Kimonis
Humoral immune deficiency and hemifacial microsomia seen in one family.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2009;46(5):477-80.
2009: Weihua Zeng; Jessica C de Greef; Yen-Yun Chen; Richard Chien; Xiangduo Kong; Heather Gregson; Sara T Winokur; April Pyle; Keith D Robertson; John A Schmiesing; Virginia E Kimonis; Judit Balog; Rune R Frants; Alexander R Ball; Leslie F Lock; Peter J Donovan; Silvère M van der Maarel; Kyoko Yokomori
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
PLoS genetics 2009;5(7):e1000559.
2009: Conrad C Weihl; Alan Pestronk; Virginia E Kimonis
Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia.
Neuromuscular disorders : NMD 2009;19(5):308-15.
2009: Kerry K Brown; Fowzan S Alkuraya; Michael Matos; Richard L Robertson; Virginia E Kimonis; Cynthia C Morton
NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.
American journal of medical genetics. Part A 2009;149A(5):931-8.
2008: Virginia E Kimonis; Erin Fulchiero; Jouni Vesa; Giles Watts
VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder.
Biochimica et biophysica acta 2008;1782(12):744-8.
2008: Virginia E Kimonis; Sarju G Mehta; Erin C Fulchiero; Dana Thomasova; Marzia Pasquali; Kym Boycott; Edward G Neilan; Alex Kartashov; Mark S Forman; Stuart Tucker; Katerina Kimonis; Steven Mumm; Michael P Whyte; Charles D Smith; Giles D J Watts
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.
American journal of medical genetics. Part A 2008;146A(6):745-57.
2007: Emily S Doherty; Felicitas Lacbawan; Donald W Hadley; Carmen Brewer; Christopher K Zalewski; H Jeff Kim; Beth Solomon; Kenneth Rosenbaum; Demetrio L Domingo; Thomas Hart; Brian P Brooks; Ladonna Immken; R Brian Lowry; Virginia E Kimonis; Alan L Shanske; Fernanda Sarquis Jehee; Maria Rita Passos Bueno; Carol Knightly; Donna McDonald-McGinn; Elaine H Zackai; Maximilian Muenke
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
American journal of medical genetics. Part A 2007;143A(24):3204-15.
2007: Ute Moog; Filip Roelens; Geert R Mortier; Han Sijstermans; Mary Kelly; Gerald F Cox; Caroline D Robson; Virginia E Kimonis
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
American journal of medical genetics. Part A 2007;143A(24):2973-80.
2007: Giles D J Watts; D Thomasova; Sheena Ramdeen; E C Fulchiero; Sarju G Mehta; David Drachman; C C Weihl; Zygmunt Jamrozik; H Kwiecinski; A Kaminska; Virginia E Kimonis
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
Clinical genetics 2007;72(5):420-6.
2007: Hagit Baris; Wen-Hann Tan; Virginia E Kimonis; Mira Irons
Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.
American journal of medical genetics. Part A 2007;143A(21):2523-33.
2007: Steven A Greenberg; Giles D J Watts; Virginia E Kimonis; Anthony A Amato; Jack L Pinkus
Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositis.
Muscle & nerve 2007;36(4):447-54.
2007: Virginia E Kimonis; June-Anne Gold; Trevor L Hoffman; Jayesh Panchal; Simeon Boyd
Genetics of craniosynostosis.
Seminars in pediatric neurology 2007;14(3):150-61.
2007: Trilochan Sahoo; Carlos A Bacino; Jennifer R German; Chad A Shaw; Lynne M Bird; Virginia E Kimonis; Irinia Anselm; Susan E Waisbren; Arthur L Beaudet; Sarika U Peters
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.
European journal of human genetics : EJHG 2007;15(9):943-9.
2007: Caroline Choi Kim; Marilyn G Liang; Ellen Pfendner; Virginia E Kimonis
What syndrome is this? Laryngo-onycho-cutaneous syndrome.
Pediatric dermatology 2007;24(3):306-8.
2007: Manuela Neumann; Ian R A Mackenzie; Nigel J Cairns; Philip J Boyer; William R Markesbery; Charles D Smith; J. Paul Taylor; Hans A Kretzschmar; Virginia E Kimonis; Mark S Forman
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations.
Journal of neuropathology and experimental neurology 2007;66(2):152-7.
2007: Christian U Hübbers; Christoph S Clemen; Kristina Kesper; Annett Böddrich; Andreas Hofmann; Outi Kämäräinen; Karen Tolksdorf; Maria Stumpf; Julia Reichelt; Udo Roth; Sabine Krause; Giles Watts; Virginia E Kimonis; Mike P Wattjes; Jens Reimann; Dietmar R Thal; Katharina Biermann; Bernd Evert; Hanns Lochmüller; Erich E Wanker; Benedikt Schoser; Angelika A Noegel; Rolf Schröder
Pathological consequences of VCP mutations on human striated muscle.
Brain : a journal of neurology 2007;130(Pt 2):381-93.
2007: Sarju G Mehta; Giles D J Watts; Jennifer L Adamson; Michael Hutton; Gloria Umberger; Shuling Xiong; Sheena Ramdeen; Mark A Lovell; Virginia E Kimonis; Charles D Smith
APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD).
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(1):9-13.
2006: Zamaneh Mikhak; Pamela Kelly; Tatyana S Cohen; Joanne E Cox; Virginia E Kimonis
Immunoglobulin deficiency in Stickler syndrome.
American journal of medical genetics. Part A 2006;140(24):2824-7.
2006: Nathaniel H Robin; Clare J Taylor; Donna M McDonald-McGinn; Elaine H Zackai; Peter M Bingham; Kevin J Collins; Dawn Earl; Deepak Gill; Tiziana Granata; Renzo Guerrini; Naomi Katz; Virginia E Kimonis; Jean-Pierre Lin; David R Lynch; Shehla N Mohammed; Roger F Massey; Marie McDonald; R. Curtis Rogers; Miranda Splitt; Cathy A Stevens; Marc Tischkowitz; Neil Stoodley; Richard J Leventer; Daniela T Pilz; William B Dobyns
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
American journal of medical genetics. Part A 2006;140(22):2416-25.
2006: Amy Lawson-Yuen; Bai-Lin Wu; Va Lip; Trilochan Sahoo; Virginia E Kimonis
Atypical cases of Angelman syndrome.
American journal of medical genetics. Part A 2006;140(21):2361-4.
2006: Fabiola Quintero-Rivera; Caroline D Robson; Rosemary E Reiss; Deborah Levine; Carol Benson; John B Mulliken; Virginia E Kimonis
Apert syndrome: what prenatal radiographic findings should prompt its consideration?
Prenatal diagnosis 2006;26(10):966-72.
2006: Hagit Baris; Bassem A Bejjani; Wen-Hann Tan; David L Coulter; Judith A Martin; Andrea L Storm; Barbara K Burton; Sulagna C Saitta; Marzena Gajecka; Blake C Ballif; Mira Irons; Lisa Shaffer; Virginia E Kimonis
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
American journal of medical genetics. Part A 2006;140A(17):1876-9.
2006: Alexey Shatunov; Nyamkhishig Sambuughin; Joseph Jankovic; Randolph C Elble; Hee Suk Lee; Andrew Singleton; Ayush Dagvadorj; Jay Ji; Yiping Zhang; Virginia E Kimonis; John Hardy; Mark Hallett; Lev G Goldfarb
Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.
Brain : a journal of neurology 2006;129(Pt 9):2318-31.
2006: Fabiola Quintero-Rivera; Caroline D Robson; Rosemary E Reiss; Deborah Levine; Carol B Benson; John B Mulliken; Virginia E Kimonis
Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.
American journal of medical genetics. Part A 2006;140(12):1337-8.
2006: Mark S Forman; Ian R A Mackenzie; Nigel J Cairns; Eric Swanson; Philip J Boyer; David Drachman; Bharati S Jhaveri; Jason H T Karlawish; Alan Pestronk; Thomas W Smith; Pang-hsien Tu; Giles D J Watts; William R Markesbery; Charles D Smith; Virginia E Kimonis
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations.
Journal of neuropathology and experimental neurology 2006;65(6):571-81.
2006: Edward Neilan; Yana Pikman; Virginia E Kimonis
Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion.
Ophthalmic genetics 2006;27(2):63-5.
2006: Jaclyn Douyard; Pamela Hawley; Meira Shaham; Virginia E Kimonis
Duplication of 5q15-q23.2: case report and literature review.
Birth defects research. Part A, Clinical and molecular teratology 2006;76(4):272-6.
2006: Fowzan S Alkuraya; Christa Lese Martin; Virginia E Kimonis
Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing?
Prenatal diagnosis 2006;26(3):291-3.
2006: Sarju G Mehta; Giles D J Watts; Barbara McGillivray; Steven Mumm; Sara Jane Hamilton; Sheena Ramdeen; Deborah Novack; Christine Briggs; Michael P Whyte; Virginia E Kimonis
Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy.
American journal of medical genetics. Part A 2006;140(4):322-30.
2006: Gavin J A Lucas; Sarju G Mehta; Lynne J Hocking; Tracy L Stewart; Tim Cundy; Geoffrey C Nicholson; John P Walsh; William D Fraser; Giles D J Watts; Stuart H Ralston; Virginia E Kimonis
Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.
Bone 2006;38(2):280-5.
2006: Taosheng Huang; Jong Dae Whang; Virginia E Kimonis
Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(1):59.
2006: Sibel Kantarci; D Casavant; C Prada; M Russell; J Byrne; L Wilkins Haug; R Jennings; S Manning; F Blaise; T K Boyd; J P Fryns; Lewis B Holmes; Patricia K Donahoe; C Lee; Virginia E Kimonis; Barbara R Pober
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.
American journal of medical genetics. Part A 2006;140(1):17-23.
2005: Sakkubai Naidu; Genila Bibat; Doris D M Lin; Peter C Burger; Peter B Barker; Sérgio Rosemberg; Nancy Braverman; Hugo Arroyo; Michael Dowling; Ada Hamosh; Virginia E Kimonis; Carol Blank; Agata Fiumara; Sergio Facchini; Bhim Singhal; Hugo Moser; Richard I Kelley; Salvatore DiMauro
Progressive cavitating leukoencephalopathy: a novel childhood disease.
Annals of neurology 2005;58(6):929-38.
2005: Giles D J Watts; Sarju G Mehta; Chengfeng Zhao; Sheena Ramdeen; Sara Jane Hamilton; Deborah V Novack; Steven Mumm; Michael P Whyte; Barbara Mc Gillivray; Virginia E Kimonis
Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.
Human genetics 2005;118(3-4):508-14.
2005: Inderneel Sahai; Hagit Baris; Virginia E Kimonis; Harvey L Levy
Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis.
Journal of child neurology 2005;20(10):826-8.
2005: Virginia E Kimonis; Giles D J Watts
Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.
Alzheimer disease and associated disorders 2005;19 Suppl 1():S44-7.
2005: Fowzan S Alkuraya; Jonathan Picker; Mira Irons; Virginia E Kimonis
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
Birth defects research. Part A, Clinical and molecular teratology 2005;73(8):569-71.
2005: Wen-Hann Tan; Hagit Baris; Caroline D Robson; Virginia E Kimonis
Cockayne syndrome: the developing phenotype.
American journal of medical genetics. Part A 2005;135(2):214-6.
2005: Hagit Baris; Wen-Hann Tan; Virginia E Kimonis
Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.
American journal of medical genetics. Part A 2005;134A(2):220-2.
2005: Rolf Schröder; Giles D J Watts; Sarju G Mehta; Bernd Evert; Petra Broich; Klaus Fliessbach; Katharina Pauls; Volkmar H Hans; Virginia E Kimonis; Dietmar R Thal
Mutant valosin-containing protein causes a novel type of frontotemporal dementia.
Annals of neurology 2005;57(3):457-61.
2005: Anna Caciotti; Maria Alice Donati; Avihu Boneh; Alessandra d'Azzo; Antonio Federico; Rossella Parini; Daniela Antuzzi; Tiziana Bardelli; Daniele Nosi; Virginia E Kimonis; Enrico Zammarchi; Amelia Morrone
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
Human mutation 2005;25(3):285-92.
2005: Fowzan S Alkuraya; Virginia E Kimonis; Laura Holt; Joyce L Murata-Collins
A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome".
American journal of medical genetics. Part A 2005;132(4):447-9.
2005: Fowzan S Alkuraya; Angela E Lin; Mira Irons; Virginia E Kimonis
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.
American journal of medical genetics. Part A 2005;132A(2):226-30.
2004: Virginia E Kimonis; Sarju G Mehta; John J DiGiovanna; Sherri J Bale; Behram Pastakia
Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(6):495-502.
2004: Amy E Roberts; Mira Irons; Virginia E Kimonis; John B Mulliken; Cynthia C Morton; Charles Lee; Marc Listewnik
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.
American journal of medical genetics. Part A 2004;130A(2):204-7.
2004: Amy E Roberts; Gerald F Cox; Virginia E Kimonis; Allen Lamb; Mira Irons
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature.
American journal of medical genetics. Part A 2004;128A(4):352-63.
2004: Michael Schneider; Shawnia Forrester; Victoria Crain; Virginia E Kimonis
A further case of coincidental Prader-Willi and Klinefelter syndromes.
American journal of medical genetics. Part A 2004;126A(2):213-4.
2004: Giles D J Watts; Jill Wymer; Margaret J Kovach; Sarju G Mehta; Steven Mumm; Daniel Darvish; Alan Pestronk; Michael P Whyte; Virginia E Kimonis
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.
Nature genetics 2004;36(4):377-81.
2003: Giles D J Watts; M Thorne; Margaret J Kovach; Alan Pestronk; Virginia E Kimonis
Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes.
Neuromuscular disorders : NMD 2003;13(7-8):559-67.
2003: Anita Talisetti; Shawnia Forrester; David Gregory; Lisa Johnson; Michael C Schneider; Virginia E Kimonis
Temtamy-like syndrome associated with translocation of 2p24 and 9q32.
Clinical dysmorphology 2003;12(3):175-7.
2003: Melissa B Ramocki; James Dowling; Inessa Grinberg; Virginia E Kimonis; Carlos Cardoso; Alyssa Gross; June Chung; Christa Lese Martin; David Ledbetter; William B Dobyns; Kathleen J Millen
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.
European journal of human genetics : EJHG 2003;11(7):527-34.
2002: Shawnia Forrester; Margaret J Kovach; Randell E Smith; Lisa Rimer; Melissa Wesson; Virginia E Kimonis
Kousseff syndrome caused by deletion of chromosome 22q11-13.
American journal of medical genetics 2002;112(4):338-42.
2002: Margaret J Kovach; Kathleen Campbell; K Herman; Brook Waggoner; David Gelber; Larry F Hughes; Virginia E Kimonis
Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.
American journal of medical genetics 2002;108(4):295-303.
2002: Brook Waggoner; Margaret J Kovach; Marc Winkelman; Dan Cai; Romesh Khardori; David Gelber; Virginia E Kimonis
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.
American journal of medical genetics 2002;108(3):187-91.
2001: Margaret J Kovach; Brook Waggoner; S M Leal; David Gelber; Romesh Khardori; M A Levenstien; C A Shanks; G Gregg; Muhammad T Al-Lozi; T Miller; W Rakowicz; Glenn Lopate; Julaine Florence; G Glosser; Z Simmons; John C Morris; Michael P Whyte; Alan Pestronk; Virginia E Kimonis
Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.
Molecular genetics and metabolism 2001;74(4):458-75.
2001: R E Jonas; Virginia E Kimonis
Chest wall hamartoma with Wiedemann-Beckwith syndrome: clinical report and brief review of chromosome 11p15.5-related tumors.
American journal of medical genetics 2001;101(3):221-5.
2001: Margaret J Kovach; J Ruiz; K Kimonis; S Mueed; S Sinha; C Higgins; S Elble; randolph elble; Virginia E Kimonis
Genetic heterogeneity in autosomal dominant essential tremor.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(3):197-9.
2001: Shawnia Forrester; Margaret J Kovach; N M Reynolds; R Urban; Virginia E Kimonis
Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.
American journal of medical genetics 2001;98(1):92-100.
2000: M C Schneider; C R Hughes; Shawnia Forrester; Virginia E Kimonis
Mild phenotype due to tandem duplication of l7p11.2.
American journal of medical genetics 2000;94(4):296-9.
2000: A S Chen; Margaret J Kovach; K Herman; A Avakian; W Frank; Shawnia Forrester; J P Lin; Virginia E Kimonis
Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families.
Genetics in medicine : official journal of the American College of Medical Genetics 2000;2(5):283-9.
2000: Virginia E Kimonis; Margaret J Kovach; Brook Waggoner; S Leal; A Salam; Lisa Rimer; K Davis; Romesh Khardori; David Gelber
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone.
Genetics in medicine : official journal of the American College of Medical Genetics 2000;2(4):232-41.
2000: Lorraine Potocki; Ken-Shiung Chen; Sung Sup Park; D E Osterholm; Marjorie Withers; Virginia E Kimonis; A M Summers; W S Meschino; K Anyane-Yeboa; Catherine D Kashork; Lisa Shaffer; James R Lupski
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Nature genetics 2000;24(1):84-7.
1999: Margaret J Kovach; J P Lin; Simeon Boyd; Kathleen Campbell; L Mazzeo; K Herman; Lisa Rimer; W Frank; B Llewellyn; Ethylin Jabs; David Gelber; Virginia E Kimonis
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
American journal of human genetics 1999;64(6):1580-93.
1997: R E Jonas; Virginia E Kimonis; A Morales
Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies.
American journal of medical genetics 1997;73(2):184-8.
1997: Virginia E Kimonis; A M Goldstein; B Pastakia; M L Yang; R Kase; John J DiGiovanna; A E Bale; S J Bale
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
American journal of medical genetics 1997;69(3):299-308.