Search Results - "Parkash, Sandhya"

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome by Guernsey, Duane L, Matsuoka, Makoto, Jiang, Haiyan, Evans, Susan, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Ferguson, Meghan, LeBlanc, Marissa, Paquette, Jean, Patry, Lysanne, Rideout, Andrea L, Thomas, Aidan, Orr, Andrew, McMaster, Chris R, Michaud, Jacques L, Deal, Cheri, Langlois, Sylvie, Superneau, Duane W, Parkash, Sandhya, Ludman, Mark, Skidmore, David L, Samuels, Mark E

“…Mark Samuels and colleagues report the identification of mutations in ORC4 , which encodes a component of the origin recognition complex, in individuals with…”
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Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients by Chowdhury, Shimul, Bandholz, Anne M., Parkash, Sandhya, Dyack, Sarah, Rideout, Andrea L., Leppig, Kathleen A., Thiese, Heidi, Wheeler, Patricia G., Tsang, Marilyn, Ballif, Blake C., Shaffer, Lisa G., Torchia, Beth S., Ellison, Jay W., Rosenfeld, Jill A.

“…A syndrome associated with 19q13.11 microdeletions has been proposed based on seven previous cases that displayed developmental delay, intellectual disability,…”
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A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3 by Schepers, Dorien, Tortora, Giada, Morisaki, Hiroko, MacCarrick, Gretchen, Lindsay, Mark, Liang, David, Mehta, Sarju G., Hague, Jennifer, Verhagen, Judith, de Laar, Ingrid, Wessels, Marja, Detisch, Yvonne, Haelst, Mieke, Baas, Annette, Lichtenbelt, Klaske, Braun, Kees, der Linde, Denise, Roos‐Hesselink, Jolien, McGillivray, George, Meester, Josephina, Maystadt, Isabelle, Coucke, Paul, El‐Khoury, Elie, Parkash, Sandhya, Diness, Birgitte, Risom, Lotte, Scurr, Ingrid, Hilhorst‐Hofstee, Yvonne, Morisaki, Takayuki, Richer, Julie, Désir, Julie, Kempers, Marlies, Rideout, Andrea L., Horne, Gabrielle, Bennett, Chris, Rahikkala, Elisa, Vandeweyer, Geert, Alaerts, Maaike, Verstraeten, Aline, Dietz, Hal, Laer, Lut, Loeys, Bart

“…The Loeys–Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present…”
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Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations by Robitaille, Johane M, Gillett, Roxanne M, LeBlanc, Marissa A, Gaston, Daniel, Nightingale, Mathew, Mackley, Michael P, Parkash, Sandhya, Hathaway, Julie, Thomas, Aidan, Ells, Anna, Traboulsi, Elias I, Héon, Elise, Roy, Mélanie, Shalev, Stavit, Fernandez, Conrad V, MacGillivray, Christine, Wallace, Karin, Fahiminiya, Somayyeh, Majewski, Jacek, McMaster, Christopher R, Bedard, Karen

“…Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations…”
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Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy by Pinard, Amélie, Fiander, Maximillian D.J., Cecchi, Alana C., Rideout, Andrea L., Azouz, Mohamed, Fraser, Stuart M., McNeely, P. Daniel, Walling, Simon, Novara, Sarah C., Hurst, Anna C.E., Guo, Dongchuan, Parkash, Sandhya, Bamshad, Michael J., Nickerson, Deborah A., Vandersteen, Anthony M., Milewicz, Dianna M.

“…To test the hypothesis that de novo genetic variants are responsible for moyamoya disease (MMD) in children with unaffected relatives, we performed exome…”
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A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1 by Duong, June, Rideout, Andrea, MacKay, Sara, Beis, Jill, Parkash, Sandhya, Schwarze, Ulrike, Horne, S. Gabrielle, Vandersteen, Anthony

“…The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT) with joint hypermobility, skin hyperextensibility and tissue fragility,…”
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Association of de novo RNF213 Variants with Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy by Pinard, Amélie, Fiander, Maximillian D.J., Cecchi, Alana C., Rideout, Andrea L., Azouz, Mohamed, Fraser, Stuart M., McNeely, P. Daniel, Walling, Simon, Novara, Sarah C., Hurst, Anna C. E., Guo, Dongchuan, Parkash, Sandhya, Bamshad, Michael J., Nickerson, Deborah A., Vandersteen, Anthony M., Milewicz, Dianna M.

“…ObjectiveTo test the hypothesis that de novo genetic variants are responsible for moyamoya disease (MMD) in children with unaffected relatives, we performed…”
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LINE‐ and Alu‐containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV by Szafranski, Przemyslaw, Kośmider, Ewelina, Liu, Qian, Karolak, Justyna A., Currie, Lauren, Parkash, Sandhya, Kahler, Stephen G., Roeder, Elizabeth, Littlejohn, Rebecca O., DeNapoli, Thomas S., Shardonofsky, Felix R., Henderson, Cody, Powers, George, Poisson, Virginie, Bérubé, Denis, Oligny, Luc, Michaud, Jacques L., Janssens, Sandra, Coen, Kris, Dorpe, Jo, Dheedene, Annelies, Harting, Matthew T., Weaver, Matthew D., Khan, Amir M., Tatevian, Nina, Wambach, Jennifer, Gibbs, Kathleen A., Popek, Edwina, Gambin, Anna, Stankiewicz, Paweł

“…Transposable elements modify human genome by inserting into new loci or by mediating homology‐, microhomology‐, or homeology‐driven DNA recombination or…”
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Grange syndrome due to homozygous YY1AP1 missense rare variants by Ciuffetelli Alamo, Isabella V., Kwartler, Callie S., Regalado, Ellen R., Afifi, Rana O., Parkash, Sandhya, Rideout, Andrea, Guo, Dong‐chuan, Milewicz, Dianna M.

“…Grange syndrome (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of…”
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LINE-and Alu-containing genomic instability hotspotat 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV by Szafranski, Przemyslaw, Kośmider, Ewelina, Liu, Qian, Karolak, Justyna A., Currie, Lauren, Parkash, Sandhya, Kahler, Stephen G., Roeder, Elizabeth, Littlejohn, Rebecca O., DeNapoli, Thomas S., Shardonofsky, Felix R., Henderson, Cody, Powers, George, Poisson, Virginie, Bérubé, Denis, Oligny, Luc, Michaud, Jacques L., Janssens, Sandra, De Coen, Kris, Van Dorpe, Jo, Dheedene, Annelies, Harting, Matthew T., Weaver, Matthew D., Khan, Amir M., Tatevian, Nina, Wambach, Jennifer, Gibbs, Kathleen A., Popek, Edwina, Gambin, Anna, Stankiewicz, Paweł

“…Transposable elements modify human genome by inserting into new loci or by mediating homology-, microhomology-, or homeology-driven DNA recombination or…”
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Genotype-phenotype analysis of the branchio-oculo-facial syndrome by Milunsky, Jeff M., Maher, Tom M., Zhao, Geping, Wang, Zhenyuan, Mulliken, John B., Chitayat, David, Clemens, Michele, Stalker, Heather J., Bauer, Mislen, Burch, Michele, Chénier, Sébastien, Cunningham, Michael L., Drack, Arlene V., Janssens, Sandra, Karlea, Audrey, Klatt, Regan, Kini, Usha, Klein, Ophir, Lachmeijer, Augusta M., Megarbane, Andre, Mendelsohn, Nancy J., Meschino, Wendy S., Mortier, Geert R., Parkash, Sandhya, Ray, C. Renai, Roberts, Angharad, Roberts, Amy, Reardon, Willie, Schnur, Rhonda E., Smith, Rosemarie, Splitt, Miranda, Tezcan, Kamer, Whiteford, Margo L., Wong, Derek A., Zori, Roberto, Lin, Angela E.

“…Branchio‐oculo‐facial syndrome (BOFS; OMIM#113620) is a rare autosomal dominant craniofacial disorder with variable expression. Major features include…”
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