Angelman syndrome: review of clinical and molecular aspects

द्वारा Bird, Lynne M
प्रकाशित 2014

Angelman Syndrome

द्वारा Margolis, Seth S., Sell, Gabrielle L., Zbinden, Mark A., Bird, Lynne M.
में प्रकाशित Neurotherapeutics (2015)

Tuberous Sclerosis, Polycystic Kidney Disease and Mucolipidosis III Gamma Caused by a Microdeletion Unmasking a Recessive Mutation

द्वारा Barea, Jaime J., van Meel, Eline, Kornfeld, Stuart, Bird, Lynne M.
में प्रकाशित Am J Med Genet A (2015)

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

द्वारा Khan, Nasreen, Cabo, Raquel, Tan, Wen‐Hann, Tayag, Regina, Bird, Lynne M.
में प्रकाशित Mol Genet Genomic Med (2019)

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study

द्वारा Khan, Nasreen, Cabo, Raquel, Tan, Wen-Hann, Tayag, Regina, Bird, Lynne M.
में प्रकाशित Orphanet J Rare Dis (2019)

Case of Syndromic Tufting Enteropathy Harbors SPINT2 Mutation seen in Congenital Sodium Diarrhea

द्वारा Sivagnanam, Mamata, Janecke, Andreas R., Müller, Thomas, Heinz-Erian, Peter, Taylor, Sharon, Bird, Lynne M.
में प्रकाशित Clin Dysmorphol (2010)

High-voltage, diffuse delta rhythms coincide with wakeful consciousness and complexity in Angelman syndrome

द्वारा Frohlich, Joel, Bird, Lynne M, Dell’Italia, John, Johnson, Micah A, Hipp, Joerg F, Monti, Martin M
में प्रकाशित Neurosci Conscious (2020)

High-voltage, diffuse delta rhythms coincide with wakeful consciousness and complexity in Angelman syndrome

द्वारा Frohlich, Joel, Bird, Lynne M, Dell’Italia, John, Johnson, Micah A, Hipp, Joerg F, Monti, Martin M
में प्रकाशित Neurosci Conscious (2020)

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

द्वारा Sidorov, Michael S., Deck, Gina M., Dolatshahi, Marjan, Thibert, Ronald L., Bird, Lynne M., Chu, Catherine J., Philpot, Benjamin D.
में प्रकाशित J Neurodev Disord (2017)

Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

द्वारा Sidorov, Michael S., Deck, Gina M., Dolatshahi, Marjan, Thibert, Ronald L., Bird, Lynne M., Chu, Catherine J., Philpot, Benjamin D.
में प्रकाशित J Neurodev Disord (2017)

Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study

द्वारा den Bakker, Hanna, Sidorov, Michael S., Fan, Zheng, Lee, David J., Bird, Lynne M., Chu, Catherine J., Philpot, Benjamin D.
में प्रकाशित Mol Autism (2018)

Delta power robustly predicts cognitive function in Angelman syndrome

द्वारा Ostrowski, Lauren M., Spencer, Elizabeth R., Bird, Lynne M., Thibert, Ronald, Komorowski, Robert W., Kramer, Mark A., Chu, Catherine J.
में प्रकाशित Ann Clin Transl Neurol (2021)

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

द्वारा Han, Julia, Bichell, Terry Jo, Golden, Stephanie, Anselm, Irina, Waisbren, Susan, Bacino, Carlos A., Peters, Sarika U., Bird, Lynne M., Kimonis, Virginia
में प्रकाशित Orphanet J Rare Dis (2019)

Heterozygous WNT1 Variant Causing a Variable Bone Phenotype

द्वारा Alhamdi, Shatha, Lee, Yi-Chien, Chowdhury, Shimul, Byers, Peter H., Gottschalk, Michael, Taft, Ryan J., Joeng, Kyu Sang, Lee, Brendan H., Bird, Lynne M.
में प्रकाशित Am J Med Genet A (2018)

Neurodevelopmental Profile of Siblings with Angelman Syndrome due to pathogenic UBE3A variants

द्वारा Sadhwani, Anjali, Willen, Jennifer M., Miller, Hillary, Barbieri-Welge, Rene, Horowitz, Lucia T., Noll, Lisa M., Peters, Sarika, Hundley, Rachel, Bird, Lynne M., Tan, Wen-Hann
में प्रकाशित J Intellect Disabil Res (2019)

Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III

द्वारा 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
में प्रकाशित J Autism Dev Disord (2023)

Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model

द्वारा 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
में प्रकाशित Child Psychiatry Hum Dev (2020)

The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome

द्वारा Bird, Lynne M., Ochoa-Lubinoff, Cesar, Tan, Wen-Hann, Heimer, Gali, Melmed, Raun D., Rakhit, Amit, Visootsak, Jeannie, During, Matthew J., Holcroft, Christina, Burdine, Rebecca D., Kolevzon, Alexander, Thibert, Ronald L.
में प्रकाशित Neurology (2021)

Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

द्वारा Gripp, Karen W., Robbins, Katherine M., Sobreira, Nara L., Witmer, P. Dane, Bird, Lynne M., Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S., Zackai, Elaine H., Doheny, Kimberly F., Stabley, Deborah L., Sol-Church, Katia
में प्रकाशित Am J Med Genet A (2014)

Electrophysiological phenotype in Angelman syndrome differs between genotypes

द्वारा Frohlich, Joel, Miller, Meghan, 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.
में प्रकाशित Biol Psychiatry (2019)