Search Results - "CROSBY, Kathleen"

Missense variant contribution to USP9X-female syndrome by Jolly, Lachlan A., Parnell, Euan, Gardner, Alison E., Corbett, Mark A., Pérez-Jurado, Luis A., Shaw, Marie, Lesca, Gaetan, Keegan, Catherine, Schneider, Michael C., Griffin, Emily, Maier, Felicitas, Kiss, Courtney, Guerin, Andrea, Crosby, Kathleen, Rosenbaum, Kenneth, Tanpaiboon, Pranoot, Whalen, Sandra, Keren, Boris, McCarrier, Julie, Basel, Donald, Sadedin, Simon, White, Susan M., Delatycki, Martin B., Kleefstra, Tjitske, Küry, Sébastien, Brusco, Alfredo, Sukarova-Angelovska, Elena, Trajkova, Slavica, Yoon, Sehoun, Wood, Stephen A., Piper, Michael, Penzes, Peter, Gecz, Jozef

“…USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females…”
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How the Food and Drug Administration Convinced Teens to Rethink Their Relationship With Cigarettes by Crosby, Kathleen

“…Crosby talks about how the US Food and Drug Administration (FDA) convinced teenagers to rethink their relationship with cigarettes. FDA has undertaken the…”
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Characterization of the Salmonella enterica Serovar Typhimurium ydcI Gene, Which Encodes a Conserved DNA Binding Protein Required for Full Acid Stress Resistance by JENNINGS, Matthew E, QUICK, Laura N, SONI, Anjali, DAVIS, Richard R, CROSBY, Kathleen, OTT, C. Mark, NICKERSON, Cheryl A, WILSON, James W

“…Article Usage Stats Services JB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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E70 A new mutation of uncertain significance in Farber disease by Kenza, Bouayed, Yousra, Bellarhrib, Asmaa, Sakhi, Kathleen, Crosby, Thierry, Levade

“…Abstract Introduction Farber disease is a rare autosomal recessive lysosomal storage disorder. It is caused by a mutation in the ASAH1 gene, which results in a…”
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A novel imaging technology to improve subcutaneous nodule quantification in Farber disease by Confer, Nils F., Crosby, Kathleen, Wolfson, Noah, Kraus, Carl

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A patient with atypical presentation of chronic hepatosteatosis harboring a novel variant in the CPT1A gene by Boonsimma, Ponghatai, Crosby, Kathleen, Mohan, Parvathi, Puscasiu, Elena, Tanpaiboon, Pranoot

“…Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare disorder of hepatic long-chain fatty acid oxidation. Most patients with CPT1A deficiency present…”
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Bringing “The Real Cost” to Life Through Breakthrough, Evidence-Based Advertising by Crosby, Kathleen, Santiago, Suzanne, Talbert, Emily C., Roditis, Maria L., Resch, Gary

“…Building on the success “The Real Cost” campaign has already achieved requires the constant development of new audience insights, novel ideas, and…”
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DETECT LYSOSOMAL STORAGE DISEASES, A NO-CHARGE SPONSORED TESTING PROGRAM, ENABLES ACCESS TO GENETIC TESTING, TREATMENT, AND CLINICAL TRIALS FOR INDIVIDUALS WITH SUSPECTED LYSOSOMAL STORAGE DISORDERS by Johnson, Britt, Crosby, Kathleen, Furgerson, Matthew, Leal-Pardinas, Fernanda, Mitchell, Asia, Pappadakis, Jennifer, Solyom, Alex, McLaughlin, Heather

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Detect Lysosomal Storage Diseases: A no-charge, sponsored, testing program that enables access to genetic testing, treatment, and clinical trials for individuals with suspected lysosomal disorders by McLaughlin, Heather M., Clarke, Michele, Crosby, Kathleen, Furgerson, Matthew, Leal-Pardinas, Fernanda, Mitchell, Asia, Pappadakis, Jennifer A., Solyom, Alexander, Tress, Jenna, Johnson, Britt A.

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Newborn screen for MPS1 (Hurler syndrome) - The Washington, DC experience by Roshan Lal, Tamanna R., Grant, Christina, Crosby, Kathleen, Hicks, Rebecca, Viall, Sarah, Tanpaiboon, Pranoot

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Persistent EBV viremia in siblings with lysosomal acid lipase deficiency (LAL-D) by Grant, Christina L., Berger, Seth, Lal, Tamanna Roshan, Crosby, Kathleen, Hicks, Rebecca, Julca, Diana, Rivers, Bryana, Ferreira, Carlos, Tanpaiboon, Pranoot

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Newborn screening for MPS I - An update of the Washington, DC experience by Roshan Lal, Tamanna R., Grant, Christina, Crosby, Kathleen, Hicks, Rebecca, Viall, Sarah, Rivers, Bryana, Julca, Diana, Tanpaiboon, Pranoot

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The Bacterial iprA Gene Is Conserved across Enterobacteriaceae, Is Involved in Oxidative Stress Resistance, and Influences Gene Expression in Salmonella enterica Serovar Typhimurium by Herman, Allison, Serfecz, Jacquelyn, Kinnally, Alexandra, Crosby, Kathleen, Youngman, Matthew, Wykoff, Dennis, Wilson, James W

“…The iprA gene (formerly known as yaiV or STM0374) is located in a two-gene operon in the Salmonella enterica serovar Typhimurium genome and is associated with…”
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Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19 by Shur, Natasha, Atabaki, Shireen M., Kisling, Monisha S., Tabarani, Abir, Williams, Clarence, Fraser, Jamie L., Regier, Debra, Summar, Marshall

“…The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID‐19 pandemic. Prior to the 2020 pandemic…”
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Laronidase desensitization protocol in a fluid sensitive child after anaphylaxis during hematopoietic stem cell transplant by Grant, Christina L., Kubala, Stephanie, Lal, Tamanna Roshan, Dávila Saldaña, Blachy J., Crosby, Kathleen, Hicks, Rebecca L., Rivers, Bryana J., Rohatgi, Radha, Lin, Adora A.

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GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment by Markovitz, Rebecca, Ghosh, Rajarshi, Kuo, Molly E., Hong, William, Lim, Jaehyung, Bernes, Saunder, Manberg, Stephanie, Crosby, Kathleen, Tanpaiboon, Pranoot, Bharucha‐Goebel, Diana, Bonnemann, Carsten, Mohila, Carrie A., Mizerik, Elizabeth, Woodbury, Suzanne, Bi, Weimin, Lotze, Timothy, Antonellis, Anthony, Xiao, Rui, Potocki, Lorraine

“…The majority of patients with spinal muscular atrophy (SMA) identified to date harbor a biallelic exonic deletion of SMN1. However, there have been reports of…”
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Subcutaneous nodules as a clinical biomarker of Farber disease by Mitchell, John, Harmatz, Paul, Selim, Laila, Din, Iman Gamal El, Mungan, Neslihan, Bulut, Fatma, Lampe, Christina, Grant, Christina L., Ferreira, Carlos R., Puri, Ratna D., Bijarnia-Mahay, Sunita, Guelbert, Noberto, Arslan, Nur, Zaki, Maha S., Kapoor, Seema, Hahn, Andreas, Magnusson, Bo, Sundberg, Erik, Ozen, Seza, Batu, Ezgi D., Di Rocco, Maja, Gokcay, Gulden, Crosby, Kathleen, Solyom, Alexander

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Farber disease clinical impact: Patient reported outcomes as a measure of disease burden by Mitchell, John, Harmatz, Paul, Selim, Laila, Din, Iman Gamal El, Mungan, Neslihan, Bulut, Fatma, Lampe, Christina, Grant, Christina L., Ferreira, Carlos R., Puri, Ratna D., Bijarnia-Mahay, Sunita, Arslan, Nur, Guelbert, Norberto, Zaki, Maha S., Kapoor, Seema, Hahn, Andreas, Magnusson, Bo, Sundberg, Erik, Ozen, Seza, Batu, Ezgi D., Di Rocco, Maja, Gokcay, Gulden, Crosby, Kathleen, Solyom, Alexander

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Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects by Kruszka, Paul, Tanpaiboon, Pranoot, Neas, Katherine, Crosby, Kathleen, Berger, Seth I, Martinez, Ariel F, Addissie, Yonit A, Pongprot, Yupada, Sittiwangkul, Rekwan, Silvilairat, Suchaya, Makonkawkeyoon, Krit, Yu, Lan, Wynn, Julia, Bennett, James T, Mefford, Heather C, Reynolds, William T, Liu, Xiaoqin, Mommersteeg, Mathilda T M, Chung, Wendy K, Lo, Cecilia W, Muenke, Maximilian

“…Congenital heart disease (CHD) is a common birth defect affecting approximately 1% of newborns. Great progress has been made in elucidating the genetic…”
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Geographies of the mind: Narrative spaces and literary landscapes in William Gilmore Simms's antebellum fiction by Crosby, Kathleen

“…Genre affords a theoretical and conceptual framework for knowledge production and knowledge distribution. Rhetorically, genre affords a political, artistic,…”
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