Search Results - "Bird, Lynne"

Identifying facial phenotypes of genetic disorders using deep learning by Gurovich, Yaron, Hanani, Yair, Bar, Omri, Nadav, Guy, Fleischer, Nicole, Gelbman, Dekel, Basel-Salmon, Lina, Krawitz, Peter M., Kamphausen, Susanne B., Zenker, Martin, Bird, Lynne M., Gripp, Karen W.

“…Syndromic genetic conditions, in aggregate, affect 8% of the population 1 . Many syndromes have recognizable facial features 2 that are highly informative to…”
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Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor by Webb, Bryn D., Evans, Anthony, Naidich, Thomas P., Bird, Lynne, Parikh, Sumit, Fernandez Garcia, Meilin, Henderson, Lindsay B., Millan, Francisca, Si, Yue, Brennand, Kristen J., Hung, Peter, Rucker, Janet C., Wheeler, Patricia G., Schadt, Eric E.

“…De novo, heterozygous, loss‐of‐function variants were identified in Pou domain, class 4, transcription factor 1 (POU4F1) via whole‐exome sequencing in four…”
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Concurrent rhabdomyosarcoma and neuroblastoma in an infant with Costello syndrome by Yu, Helena, Sridhar, Sunita, Mo, Jun, Bird, Lynne M., Elster, Jennifer

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Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance by Gomes, Adriana, Zapata, Laura Forero, Galarreta, Carolina I., Henderson, Riley, Hoyt, Erin, Swee, Steven, Bird, Lynne M.

“…VACTERL association is defined as the nonrandom co‐occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia,…”
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Angelman Syndrome by Margolis, Seth S., Sell, Gabrielle L., Zbinden, Mark A., Bird, Lynne M.

“…In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment…”
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Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection by Omilusik, Kyla D, Best, J Adam, Yu, Bingfei, Goossens, Steven, Weidemann, Alexander, Nguyen, Jessica V, Seuntjens, Eve, Stryjewska, Agata, Zweier, Christiane, Roychoudhuri, Rahul, Gattinoni, Luca, Bird, Lynne M, Higashi, Yujiro, Kondoh, Hisato, Huylebroeck, Danny, Haigh, Jody, Goldrath, Ananda W

“…ZEB2 is a multi-zinc-finger transcription factor known to play a significant role in early neurogenesis and in epithelial-mesenchymal transition-dependent…”
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Angelman syndrome: Current and emerging therapies in 2016 by Tan, Wen-Hann, Bird, Lynne M.

“…Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the maternally‐inherited UBE3A; the paternal UBE3A is silenced in neurons by…”
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Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study by Galarreta, Carolina I., Vaida, Florin, Bird, Lynne M.

“…Esophageal atresia/tracheoesophageal fistula (EA/TEF) is one of the most common gastrointestinal birth defects. It can occur in isolation or in association…”
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Health-related quality of life and medication use among individuals with Angelman syndrome by Khan, Nasreen, Cabo, Raquel, Burdine, Rebecca D., Tan, Wen-Hann, Keary, Christopher J., Ochoa-Lubinoff, Cesar, Bird, Lynne M.

“…Purpose The primary goal of this analysis is to describe the health-related quality of life (HRQoL), medical history, and medication use among adolescents and…”
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Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment by Keute, Marius, Miller, Meghan T., Krishnan, Michelle L., Sadhwani, Anjali, Chamberlain, Stormy, Thibert, Ronald L., Tan, Wen-Hann, Bird, Lynne M., Hipp, Joerg F.

“…Angelman Syndrome (AS) is a severe neurodevelopmental disorder due to impaired expression of UBE3A in neurons. There are several genetic mechanisms that impair…”
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Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III by Sadhwani, Anjali, Wheeler, Anne, Gwaltney, Angela, Peters, Sarika U., Barbieri-Welge, Rene L., Horowitz, Lucia T., Noll, Lisa M., Hundley, Rachel J., Bird, Lynne M., Tan, Wen-Hann

“…We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel…”
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Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes by Frohlich, Joel, Miller, Meghan T., Bird, Lynne M., Garces, Pilar, Purtell, Hannah, Hoener, Marius C., Philpot, Benjamin D., Sidorov, Michael S., Tan, Wen-Hann, Hernandez, Maria-Clemencia, Rotenberg, Alexander, Jeste, Shafali S., Krishnan, Michelle, Khwaja, Omar, Hipp, Joerg F.

“…Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by either disruptions of the gene UBE3A or deletion of chromosome 15 at 15q11-q13, which…”
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Expansion of the core features of VACTERL association to include genital anomalies by Forero, Laura T., Henderson, Riley, Galarreta, Carolina, Swee, Steven, Bird, Lynne M.

“…Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized…”
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Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes by Galarreta, Carolina I., Hoyt, Erin, Forero, Laura, Curry, Cynthia J., Bird, Lynne M.

“…Abstract VACTERL association is typically defined as the presence of three components among these birth defects: vertebral anomalies, anal atresia, cardiac…”
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Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition by Gwaltney, Angela, Potter, Sarah Nelson, Peters, Sarika U., Barbieri-Welge, Rene L., Horowitz, Lucia T., Noll, Lisa M., Hundley, Rachel J., Bird, Lynne M., Tan, Wen-Hann, Sadhwani, Anjali, Wheeler, Anne

“…In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive…”
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The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder by Barbour, Kristen, Bainbridge, Matthew N., Wigby, Kristen, Besterman, Aaron D., Chuang, Nathaniel A., Tobin, Laura E., Del Campo, Miguel, Lenberg, Jerica, Bird, Lynne M., Friedman, Jennifer

“…RNU4-2 is a newly identified, noncoding gene responsible for a significant proportion of individuals with neurodevelopmental disorders (NDDs). Diagnosis is…”
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Effects of MetAP2 inhibition on hyperphagia and body weight in Prader–Willi syndrome: A randomized, double‐blind, placebo‐controlled trial by McCandless, Shawn E., Yanovski, Jack A., Miller, Jennifer, Fu, Cary, Bird, Lynne M., Salehi, Parisa, Chan, Christine L., Stafford, Diane, Abuzzahab, M. Jennifer, Viskochil, David, Barlow, Sarah E., Angulo, Moris, Myers, Susan E., Whitman, Barbara Y., Styne, Dennis, Roof, Elizabeth, Dykens, Elisabeth M., Scheimann, Ann O., Malloy, Jaret, Zhuang, Dongliang, Taylor, Kristin, Hughes, Thomas E., Kim, Dennis D., Butler, Merlin G.

“…Aims There are no treatments for the extreme hyperphagia and obesity in Prader–Willi syndrome (PWS). The bestPWS clinical trial assessed the efficacy, safety…”
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Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis by Sidorov, Michael S, Deck, Gina M, Dolatshahi, Marjan, Thibert, Ronald L, Bird, Lynne M, Chu, Catherine J, Philpot, Benjamin D

“…Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has…”
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Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial by Miller, Jennifer L, Gevers, Evelien, Bridges, Nicola, Yanovski, Jack A, Salehi, Parisa, Obrynba, Kathryn S, Felner, Eric I, Bird, Lynne M, Shoemaker, Ashley H, Angulo, Moris, Butler, Merlin G, Stevenson, David, Abuzzahab, Jennifer, Barrett, Timothy, Lah, Melissa, Littlejohn, Elizabeth, Mathew, Verghese, Cowen, Neil M, Bhatnagar, Anish

“…Abstract Context Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in the chromosome…”
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Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model by Willgoss, Tom, Cassater, Daiana, Connor, Siobhan, Krishnan, Michelle L., Miller, Meghan T., Dias-Barbosa, Carla, Phillips, Dawn, McCormack, Julie, Bird, Lynne M., Burdine, Rebecca D., Claridge, Sharon, Bichell, Terry Jo

“…Angelman syndrome (AS) is a complex, heterogeneous, and life-long neurodevelopmental disorder. Despite the considerable impact on individuals and caregivers,…”
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