Search Results - "Kimonis, VE"

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 by Kovach, Margaret J., Waggoner, Brook, Leal, Suzanne M., Gelber, David, Khardori, Romesh, Levenstien, Mark A., Shanks, Christy A., Gregg, Gregory, Al-Lozi, Muhammad T., Miller, Timothy, Rakowicz, Wojtek, Lopate, Glenn, Florence, Juliane, Glosser, Guila, Simmons, Zachary, Morris, John C., Whyte, Michael P., Pestronk, Alan, Kimonis, Virginia E.

“…Autosomal dominant myopathy, Paget disease of bone, and dementia constitute a unique disorder (MIM 605382). Here we describe the clinical, biochemical,…”
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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein by Kimonis, Virginia E, Watts, Giles D J, Wymer, Jill, Kovach, Margaret J, Mehta, Sarju G, Mumm, Steven, Darvish, Daniel, Pestronk, Alan, Whyte, Michael P

“…Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is a dominant progressive disorder that maps to chromosome…”
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Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia by Mehta, SG, Khare, M, Ramani, R, Watts, GDJ, Simon, M, Osann, KE, Donkervoort, S, Dec, E, Nalbandian, A, Platt, J, Pasquali, M, Wang, A, Mozaffar, T, Smith, CD, Kimonis, VE

“…Valosin containing protein (VCP) disease associated with inclusion body myopathy, Paget disease of the bone and frontotemporal dementia is a progressive…”
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Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome by Llewellyn, Katrina J, Nalbandian, Angèle, Gomez, Arianna, Wei, Don, Walker, Naomi, Kimonis, Virginia E

“…Abstract Genetic defects in the UBE3A gene, which encodes for the imprinted E6-AP ubiquitin E3 ligase (UBE3A), is responsible for the occurrence of Angelman…”
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Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia by Watts, GDJ, Thomasova, D, Ramdeen, SK, Fulchiero, EC, Mehta, SG, Drachman, DA, Weihl, CC, Jamrozik, Z, Kwiecinski, H, Kaminska, A, Kimonis, VE

“…Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD, OMIM 167320) has recently been attributed to eight missense…”
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Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome by Kimonis, Virginia E., Mehta, Sarju G., Digiovanna, John J., Bale, Sherri J., Pastakia, Behram

“…Purpose: Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal-dominant disorder characterized by multiple basal cell carcinomas, jaw cysts,…”
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Autosomal dominant inclusion body myopathy, paget disease of bone, and frontotemporal dementia by KIMONIS, Virginia E, WATTS, Giles D. J

“…Autosomal dominant proximal limb girdle or inclusion body myopathy, associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is a recently…”
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Homozygous alpha 6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia by Pulkkinen, L, Kimonis, V E, Xu, Yili, Spanou, EN, McLean, WHI, Uitto, J

“…Junctional epidermolysis bullosa with congenital pyloric or duodenal atresia is a distinct variant within this group of autosomal recessive blistering skin…”
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Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone by Kimonis, V E, Kovach, M J, Waggoner, B, Leal, S, Salam, A, Rimer, L, Davis, K, Khardori, R, Gelber, D

“…To characterize the clinical features and perform linkage analysis of candidate loci in a large Illinois family with autosomal dominant limb-girdle muscular…”
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Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone by Lucas, Gavin J.A., Mehta, Sarju G., Hocking, Lynne J., Stewart, Tracy L., Cundy, Tim, Nicholson, Geoff C., Walsh, John P., Fraser, William D., Watts, Giles D.J., Ralston, Stuart H., Kimonis, Virginia E.

“…Paget's disease of bone (PDB) is a common metabolic bone disease of late onset with a strong genetic component. Rarely, PDB can occur as part of a syndrome in…”
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Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes by Watts, Giles D.J, Thorne, M, Kovach, M.J, Pestronk, A, Kimonis, Virginia E

“…We have previously reported a new autosomal dominant inclusion body myopathy clinically resembling limb girdle muscular dystrophy, associated with Paget…”
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Genetic heterogeneity in autosomal dominant essential tremor by Kovach, Margaret J, Ruiz, Jimmy, Kimonis, Katerina, Mueed, Sajjad, Sinha, Shobhit, Higgins, Connie, Elble, Suzanne, Elble, Rodger, Kimonis, Virginia E

“…Purpose: To perform linkage analysis of candidate loci in a large Midwestern family with autosomal dominant essential tremor. Methods: Thirty-eight members of…”
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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 by RAMOCKI, Melissa B, DOWLING, James, MILLEN, Kathleen J, GRINBERG, Inessa, KIMONIS, Virginia E, CARDOSO, Carlos, GROSS, Alyssa, CHUNG, June, MARTIN, Christa Lese, LEDBETTER, David H, DOBYNS, William B

“…We have identified a female patient with a complex phenotype that includes complete agenesis of the corpus callosum, bilateral periventricular nodular…”
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Cockayne syndrome: The developing phenotype by Tan, Wen‐Hann, Baris, Hagit, Robson, Caroline D., Kimonis, Virginia E.

“…Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, “cachectic dwarfism” and progressive neurological degeneration. We present a…”
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Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis by Kimonis, V E, Troendle, J, Rose, S R, Yang, M L, Markello, T C, Gahl, W A

“…Primary hypothyroidism is a known complication of nephropathic cystinosis, a lysosomal storage disorder characterized by renal failure as well as deterioration…”
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A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness by Kovach, Margaret J., Lin, Jing-Ping, Boyadjiev, Simeon, Campbell, Kathleen, Mazzeo, Larry, Herman, Kristin, Rimer, Lisa A., Frank, William, Llewellyn, Barbara, Wang Jabs, Ethylin, Gelber, David, Kimonis, Virginia E.

“…Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large…”
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Hypothelia, syndactyly, and ear malformation—a variant of the scalp‐ear‐nipple syndrome?: Case report and review of the literature by Baris, Hagit, Tan, Wen‐Hann, Kimonis, Virginia E.

“…The scalp‐ear‐nipple syndrome is a rare autosomal dominant condition that involves lesions of the scalp, malformed external ears, and absence of rudimentary…”
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Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: How many are we missing? by Alkuraya, Fowzan S., Martin, Christa L., Kimonis, Virginia E.

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Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement by Alkuraya, Fowzan S., Lin, Angela E., Irons, Mira B., Kimonis, Virginia E.

“…Fryns syndrome is an autosomal recessive multiple congenital anomaly/mental retardation syndrome characterized by coarse face, distal limb hypoplasia, and…”
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Hypothelia, syndactyly, and ear malformation-A variant of the scalp-ear-nipple syndrome?: Case report and review of the literature (Am J Med Genet 134A: 220-222 (2005)) by Baris, Hagit, Tan, Wen-Hann, Kimonis, Virginia E.

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