Search Results - "Loo, Joanne C.Y."

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome by Óskarsdóttir, Sólveig, Boot, Erik, Crowley, Terrence Blaine, Loo, Joanne C.Y., Arganbright, Jill M., Armando, Marco, Baylis, Adriane L., Breetvelt, Elemi J., Castelein, René M., Chadehumbe, Madeline, Cielo, Christopher M., de Reuver, Steven, Eliez, Stephan, Fiksinski, Ania M., Forbes, Brian J., Gallagher, Emily, Hopkins, Sarah E., Jackson, Oksana A., Levitz-Katz, Lorraine, Klingberg, Gunilla, Lambert, Michele P., Marino, Bruno, Mascarenhas, Maria R., Moldenhauer, Julie, Moss, Edward M., Nowakowska, Beata Anna, Orchanian-Cheff, Ani, Putotto, Carolina, Repetto, Gabriela M., Schindewolf, Erica, Schneider, Maude, Solot, Cynthia B., Sullivan, Kathleen E., Swillen, Ann, Unolt, Marta, Van Batavia, Jason P., Vingerhoets, Claudia, Vorstman, Jacob, Bassett, Anne S., McDonald-McGinn, Donna M.

“…This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2…”
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Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome by Boot, Erik, Óskarsdóttir, Sólveig, Loo, Joanne C.Y., Crowley, Terrence Blaine, Orchanian-Cheff, Ani, Andrade, Danielle M., Arganbright, Jill M., Castelein, René M., Cserti-Gazdewich, Christine, de Reuver, Steven, Fiksinski, Ania M., Klingberg, Gunilla, Lang, Anthony E., Mascarenhas, Maria R., Moss, Edward M., Nowakowska, Beata Anna, Oechslin, Erwin, Palmer, Lisa, Repetto, Gabriela M., Reyes, Nikolai Gil D., Schneider, Maude, Silversides, Candice, Sullivan, Kathleen E., Swillen, Ann, van Amelsvoort, Therese A.M.J., Van Batavia, Jason P., Vingerhoets, Claudia, McDonald-McGinn, Donna M., Bassett, Anne S.

“…This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited…”
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Personalized medical information card for adults with 22q11.2 deletion syndrome: An initiative to improve communication between patients and healthcare providers by Loo, Joanne C. Y., Boot, Erik, Corral, Maria, Bassett, Anne S.

“…Background Many individuals with intellectual disabilities and their caregivers struggle to provide accurate and complete information to healthcare providers…”
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Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions by Blagowidow, Natalie, Nowakowska, Beata, Schindewolf, Erica, Grati, Francesca Romana, Putotto, Carolina, Breckpot, Jeroen, Swillen, Ann, Crowley, Terrence Blaine, Loo, Joanne C Y, Lairson, Lauren A, Óskarsdóttir, Sólveig, Boot, Erik, Garcia-Minaur, Sixto, Cristina Digilio, Maria, Marino, Bruno, Coleman, Beverly, Moldenhauer, Julie S, Bassett, Anne S, McDonald-McGinn, Donna M

“…Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature…”
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Germline splicing mutations of CDKN2A predispose to melanoma by LOO, Joanne C. Y, LING LIU, FUSARO, Ramon, BLAZER, Kathleen, WEITZEL, Jeffrey, LASSAM, Norman, LYNCH, Henry, HOGG, David, HAO, Aihua, LUZHUANG GAO, AGATEP, Ron, SHENNAN, Michael, SUMMERS, Anne, GOLDSTEIN, Alisa M, TUCKER, Margaret A, DETERS, Carolyn

“…Coding mutations of the CDKN2A gene on chromosome 9p21 cosegregate with 25-60% of familial melanoma cases, but there remains a number of 9p21-linked kindreds…”
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