Search Results - "Reid, Vernon"

Targeting TGF-β for treatment of osteogenesis imperfecta by Song, I-Wen, Nagamani, Sandesh Cs, Nguyen, Dianne, Grafe, Ingo, Sutton, Vernon Reid, Gannon, Francis H, Munivez, Elda, Jiang, Ming-Ming, Tran, Alyssa, Wallace, Maegen, Esposito, Paul, Musaad, Salma, Strudthoff, Elizabeth, McGuire, Sharon, Thornton, Michele, Shenava, Vinitha, Rosenfeld, Scott, Huang, Shixia, Shypailo, Roman, Orwoll, Eric, Lee, Brendan

“…BACKGROUNDCurrently, there is no disease-specific therapy for osteogenesis imperfecta (OI). Preclinical studies demonstrate that excessive TGF-β signaling is a…”
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A multicenter study to evaluate pulmonary function in osteogenesis imperfecta by Tam, Allison, Chen, Shan, Schauer, Evan, Grafe, Ingo, Bandi, Venkata, Shapiro, Jay R., Steiner, Robert D., Smith, Peter A., Bober, Michael B., Hart, Tracy, Cuthbertson, David, Krischer, Jeffrey, Mullins, Mary, Byers, Peter H., Sandhaus, Robert A., Durigova, Michaela, Glorieux, Francis H., Rauch, Frank, Reid Sutton, Vernon, Lee, Brendan, Rush, Eric T., Nagamani, Sandesh C.S.

“…Pulmonary complications are a significant cause for morbidity and mortality in osteogenesis imperfecta (OI). However, to date, there have been few studies that…”
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A novel, de novo intronic variant in POGZ causes White–Sutton syndrome by Merriweather, Ashanta, Murdock, David R., Rosenfeld, Jill A., Dai, Hongzheng, Ketkar, Shamika, Emrick, Lisa, Nicholas, Sarah, Lewis, Richard A., Bacino, Carlos A., Scott, Daryl A., Lee, Brendan, Sutton, Vernon Reid, Potocki, Lorraine, Burrage, Lindsay C.

“…White–Sutton syndrome (WHSUS), which is caused by heterozygous pathogenic variants in POGZ, is characterized by a spectrum of intellectual disabilities and…”
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Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study by Najirad, Mohammadamin, Ma, Mang Shin, Rauch, Frank, Sutton, Vernon Reid, Lee, Brendan, Retrouvey, Jean-Marc, Esfandiari, Shahrokh

“…Osteogenesis imperfecta (OI) affects dental and craniofacial development and may therefore impair Oral Health-Related Quality of Life (OHRQoL). However, little…”
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Sterility maintenance study: Dynamic evaluation of sterilized rigid containers and wrapped instrument trays to prevent bacterial ingress by Shaffer, Harry L., MS, Harnish, Delbert A., MS, McDonald, Michael, MS, Vernon, Reid A., BS, Heimbuch, Brian K., MS

“…Background Sterilized packaging systems are designed to maintain the sterility of surgical instruments and devices from the time of sterilization until use…”
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Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross‐sectional multicenter study by Ma, Mang Shin, Najirad, Mohammadamin, Taqi, Doaa, Retrouvey, Jean‐Marc, Tamimi, Faleh, Dagdeviren, Didem, Glorieux, Francis H., Lee, Brendan, Sutton, Vernon Reid, Rauch, Frank, Esfandiari, Shahrokh

“…Objective Dentinogenesis Imperfecta (DI) forms a group of dental abnormalities frequently found associated with Osteogenesis Imperfecta (OI), a hereditary…”
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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13 by Jacob, Prince, Lindelöf, Hillevi, Rustad, Cecilie F., Sutton, Vernon Reid, Moosa, Shahida, Udupa, Prajna, Hammarsjö, Anna, Bhavani, Gandham SriLakshmi, Batkovskyte, Dominyka, Tveten, Kristian, Dalal, Ashwin, Horemuzova, Eva, Nordgren, Ann, Tham, Emma, Shah, Hitesh, Merckoll, Else, Orellana, Laura, Nishimura, Gen, Girisha, Katta M., Grigelioniene, Giedre

“…Spondyloepimetaphyseal dysplasia with severe short stature, RPL13 -related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by…”
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Clinical and Genetic Characterization of Upper Extremity Anomalies in Robinow Syndrome by Trost, Jeffrey, Abu-Ghname, Amjed, Davis, Matthew J., Cen, Nicholas, Guillen, Diana M., Sutton, Vernon Reid, Carvalho, Claudia M.B., Maricevich, Renata

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Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma by Lucari, Brandon, Tallis, Eran, Sutton, Vernon Reid, Porea, Timothy

“…This case reports concomitant use of enzyme and substrate reduction therapy to improve chemotherapy adherence in a pediatric patient diagnosed with Ewing…”
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Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study by Glorieux, Francis H, Langdahl, Bente, Chapurlat, Roland, De Beur, Suzanne Jan, Sutton, Vernon Reid, Poole, Kenneth E S, Dahir, Kathryn M, Orwoll, Eric S, Willie, Bettina M, Mikolajewicz, Nicholas, Zimmermann, Elizabeth, Hosseinitabatabaei, Seyedmahdi, Ominsky, Michael S, Saville, Chris, Clancy, James, MacKinnon, Alastair, Mistry, Arun, Javaid, Muhammad K

“…Osteogenesis imperfecta (OI) is a rare genetic disorder commonly caused by variants of the type I collagen genes COL1A1 and COL1A2. OI is associated with…”
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The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII by Wang, Raymond Y., da Silva Franco, José Francisco, López-Valdez, Jaime, Martins, Esmeralda, Sutton, Vernon Reid, Whitley, Chester B., Zhang, Lin, Cimms, Tricia, Marsden, Deborah, Jurecka, Agnieszka, Harmatz, Paul

“…Vestronidase alfa (recombinant human beta-glucuronidase) is an enzyme replacement therapy (ERT) for Mucopolysaccharidosis (MPS) VII, a highly heterogeneous,…”
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Targeting TGF-[beta] for treatment of osteogenesis imperfecta by Song, I-Wen, Nagamani, Sandesh C.S, Nguyen, Dianne, Grafe, Ingo, Sutton, Vernon Reid, Gannon, Francis H, Munivez, Elda, Jiang, Ming-Ming, Tran, Alyssa, Wallace, Maegen, Esposito, Paul, Musaad, Salma, Strudthoff, Elizabeth, McGuire, Sharon, Thornton, Michele, Shenava, Vinitha, Rosenfeld, Scott, Huang, Shixia, Shypailo, Roman, Orwoll, Eric, Lee, Brendan

“…BACKGROUND. Currently, there is no disease-specific therapy for osteogenesis imperfecta (OI). Preclinical studies demonstrate that excessive TGF-[beta]…”
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Corrigendum to “The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII” [Mol Genet Metab 2020 Mar;129(3):219–227] by Wang, Raymond Y., da Silva Franco, José Francisco, López-Valdez, Jaime, Martins, Esmeralda, Sutton, Vernon Reid, Whitley, Chester B., Zhang, Lin, Cimms, Tricia, Marsden, Deborah, Jurecka, Agnieszka, Harmatz, Paul

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Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B 12 Metabolism: Case Reports and Literature Review by Mullikin, Dolores, Pillai, Nishitha, Sanchez, Rossana, O'Donnell-Luria, Anne H, Kritzer, Amy, Tal, Leyat, Almannai, Mohammed, Berry, Gerard T, Gambello, Michael J, Li, Hong, Graham, Brett, Srivaths, Lakshmi, Sutton, Vernon Reid, Grimes, Amanda

“…We describe 2 children with cobalamin G disease, a disorder of vitamin B metabolism with normal serum B levels. They presented with megaloblastic anemia…”
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Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes by Rao, Rashmi, Cuthbertson, David, Nagamani, Sandesh C.S., Sutton, Vernon Reid, Lee, Brendan H., Krischer, Jeffrey, Krakow, Deborah

“…Women with rare diseases, such as osteogenesis imperfecta, may consider pregnancy, although data regarding outcomes, specific risks, and management strategies…”
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Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review by Mullikin, Dolores, Pillai, Nishitha, Sanchez, Rossana, O'Donnell- Luria, Anne H., Kritzer, Amy, Tal, Leyat, Almannai, Mohammed, Berry, Gerard T., Gambello, Michael J., Li, Hong, Graham, Brett, Srivaths, Lakshmi, Sutton, Vernon Reid, Grimes, Amanda

“…We describe 2 children with cobalamin G disease, a disorder of vitamin B12 metabolism with normal serum B12 levels. They presented with megaloblastic anemia…”
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Risk categorization for oversight of laboratory-developed tests for inherited conditions by Monaghan, Kristin G., Benkendorf, Judith, Cherry, Athena M., Gross, Susan J., Richards, C. Sue, Sutton, Vernon Reid, Watson, Michael S.

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Five fingers: Lionsgate presents in association with Element Films and Cinema Gypsy Productions, an Element Films/Cinema Gypsy production in association with Lionsgate and Dolly Hall/Parabolic Pictures and Lift Productions, a Laurence Malkin film ; producers, Dolly Hall, Josh Kesselman, Kelley F. Reynolds, Laurence Malkin ; producers, Adam Rosenfelt, Laurence Fishburne, Helen Sugland, Stavros Merjos ; written by Chad Thumann & Laurence Malkin ; directed by Laurence Malkin by Malkin, Laurence, Rosenfelt, Adam, Fishburne, Laurence, Sugland, Helen, Thumann, Chad, Phillippe, Ryan, Torres, Gina, Meaney, Colm, Reid, Vernon, Taghmaoui, Said

“…Martijn is an idealistic Dutch pianist who travels to Morocco to help start a food bank program for malnourished children. Within moments of his arrival,…”
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ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions by Monaghan, Kristin G, Benkendorf, Judith, Cherry, Athena M, Gross, Susan J, Richards, C Sue, Sutton, Vernon Reid, Watson, Michael S

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PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing by Fernandes, Priscilla H, Wen, Shu, Sutton, Vernon Reid, Ward, Patricia A, Van den Veyver, Ignatia B, Fang, Ping

“…Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by mutations in the gene PORCN, which encodes a protein required for the secretion and…”
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