Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Rene Barbieri-Welge"'
Autor:
Lynne M. Bird, Wen-Hann Tan, Sarika U. Peters, Lucia T. Horowitz, Anne Wheeler, Anjali Sadhwani, Rene Barbieri-Welge, Rachel J. Hundley, Lisa M. Noll, Angela Gwaltney
Publikováno v:
J Autism Dev Disord
Journal of autism and developmental disorders, vol 53, iss 2
Journal of autism and developmental disorders, vol 53, iss 2
We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes
Autor:
Rene Barbieri-Welge, Lisa M. Noll, Lynne M. Bird, H. Miller, Wen-Hann Tan, Sarika U. Peters, Lucia T. Horowitz, Anjali Sadhwani, Rachel J. Hundley, Jennifer M. Willen
Publikováno v:
Journal of intellectual disability research : JIDR, vol 64, iss 3
J Intellect Disabil Res
J Intellect Disabil Res
Background Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternally inherited UBE3A gene on chromosome 15. Individuals with AS due to a UBE3A mutation are more likely to have siblings who also have AS c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::434a18af6d2dae6ccbf3ff721879b6a0
https://escholarship.org/uc/item/5dv2n0ms
https://escholarship.org/uc/item/5dv2n0ms
Autor:
Jean R. Lowe, Yvonne E. Vaucher, Ira Adams-Chapman, Elizabeth F. Bruno, Paul Zlotnik, Kristin M. Zaterka-Baxter, Nancy Close, Alicia Guzman, Susan R. Hintz, Amanda Soong, Wade Rich, Alexandra Stroerger, Seetha Shankaran, Saba Siddiki, Sharon L. Wright, Kimberlee Weaver-Lewis, Gary David Markowitz, Linda Black, Anne M. DeBattista, Donald J. Goldstein, Monika Bhola, Marcia Worley Mersmann, Brenda H. Morris, Vivek Narendran, Patricia L. Ashley, Theresa M. Leach, Barbara J. Stoll, Gail Hounshell, Kim Francis, M. Bethany Ball, Laura A. Goldston, Michele C. Walsh, Amy K. Hutchinson, Tarah T. Colaizy, David K. Stevenson, Lisa K. Washburn, Meghan Lukasik, Abhik Das, Linda J. Reubens, Maureen Mulligan LaRossa, Rene Barbieri-Welge, John M. Fiascone, Ann B. Cook, Jon E. Tyson, Carlos Torres, Renee Bridge, Melinda S. Proud, John A. Widness, Stephanie Wilson Archer, Kathleen G. Nelson, Kristi L. Watterberg, Katherine A. Foy, Abbot R. Laptook, Dan Gingras, Bradley A. Yoder, Michelle Harwood Berkowits, Richard A. Ehrenkranz, Janet Taft, Neil N. Finer, Fred J. Biasini, J. M. DiFiore, James P. Kiley, Anthony J. Piazza, Shahnaz Duara, William F. Malcolm, Lizette E. Torres, Kathy J. Auten, Dianne E. Herron, Mike Steffens, Nancy Peters, Sally Whitley, Nancy S. Newman, Charles R. Rosenfeld, Nancy A. Miller, Sarah Martin, Beverly Foley Harris, Conra Backstrom Lacy, Linda A. Madden, Gloria V. Smikle, Kathy Arnell, Kristen C. Johnston, Anna M. Dusick, Martha G. Fuller, Heike M. Minnich, Vineet Bhandari, Donna Posin, Kate Bridges, Martha R. Leonard, Roy J. Heyne, Noelle Younge, Christine G. Butler, Patricia Gettner, Carolyn M. Petrie Huitema, Sharon F. Freedman, Rachel V. Walden, Helina Pierre, Waldemar A. Carlo, Robert G. Dillard, Joanne Williams, Ellen Nylen, Margarita Jiminez, Victoria E. Watson, Sheena L. Carter, Richard V. Rector, Barbara Alksninis, David Wang, Bill Cashore, Kimberley A. Fisher, Susie Buchter, Michael J. Acarregui, Bonnie E. Stephens, Alexis N. Diaz, W. Kenneth Poole, Ana K. Brussa, Alexis S. Davis, Carolyn Lytle, Jill Burnett, Laura Grau, Bonnie S. Siner, Melissa Whalen Morris, Karen A. Osborne, Melinda Caskey, Cryshelle S. Patterson, Renee P. Pyle, Laura L. Whitely, Harriet Friedman, Sheree York, Kelley Yost, Emily Kushner, Rebecca Bara, Cathy Grisby, Arlene Zadell, Barbara D. Alexander, Ivan D. Frantz, Myriam Peralta-Carcelen, James W. Pickett, Karen J. Johnson, Sheila Greisman, Susan Barnett, Beena G. Sood, Ann M. Blackwelder, Catherine Twell Boatman, Gary J. Myers, Athina Pappas, Ariel A. Salas, Jean G. Kohn, Ayala Ben-Tall, Ellen C. Hale, Brenda B. Poindexter, Rosemary D. Higgins, Elisabeth Dinkins, Elizabeth T. Heyne, Teresa L. Gratton, Kerry Wilder, Jonathan W. Mink, Regina A. Gargus, Deanne E. Wilson-Costello, Rebecca Montman, Charles R. Bauer, Dale L. Phelps, Jamie E. Newman, Leslie Dawn Wilson, Pablo J. Sánchez, Alan H. Jobe, Monica Konstantino, Melody B. Lohmeyer, Monica V. Collins, Charles Green, Hali E. Weiss, Elizabeth Billian, Dorothy B. Gail, Clarence Demetrio, Kurt Schibler, Mary Anne Berberich, Leslie Rodriguez, David K. Wallace, Shabnam Lainwala, Betty R. Vohr, Sobha Fritz, Kasey Hamlin-Smith, William Oh, Deborah Pontillo, David P. Carlton, Cheryl Runyan, Arielle Riguard, Shawna Baker, Avroy A. Fanaroff, Sara Krzywanski, Shirley S. Cosby, Barbara Bentley, Gaynelle Hensley, Walid A. Salhab, Joan Merzbach, Cecelia E. Sibley, James Allen, Elaine Romano, C. Michael Cotten, Maria Hopkins, Vivien Phillips, Kimberly Yolton, Michael S. Caplan, Kathryn E. Gustafson, Andrea Milena Becerra Garcia, Kirstin J. Bailey, Margaret L. Poundstone, Diana M. Vasil, Cherrie D. Welch, Sarah Lillie, Ellen Waldrep, Jeanette O'Donnell Auman, Gulgun Yalcinkaya, Kalida Mehta, Patricia W. Evans, Harris Gelbard, Carroll Peterson, Angelita M. Hensman, Sylvia Hiriart-Fajardo, Edward F. Donovan, Barbara Do, James Wilkes, Marie G. Gantz, Nicholas H. St. John, Elaine O. Mathews, Harris C. Jacobs, Deborah Evans Allred, Rosemary L. Jensen, Suzy Ventura, Kathleen A. Kennedy, Dawn Andrews, Walter Gilliam, Kristen Angela, Mary Johnson, Katharine Johnson, Krisa P. Van Meurs, Barbara G. Jackson, Betty K. Hastings, Holly L. Mincey, Elisabeth C. McGowan, Brenda L. MacKinnon, JoAnn Poulsen, Pat Cervone, Edward F. Bell, T. Michael O'Shea, Janet S. Morgan, Elaine Ito, Julie Rohr, Ruth Everett-Thomas, Patti L. Pierce Tate, Laura Cole, Maria Calejo, Dennis Wallace, Paul Wozniak, Maynard Rasmussen, Robin K. Ohls, Lisa Augostino, Silvia M. Frade Eguaras, Faithe Hamer, Julie Babish Johnson, Karen Zanetti, Roger G. Faix, Maria Elena DeAnda, Ronald N. Goldberg, James A. Lemons, Diane Hust, Stacy Reddoch, Karie Bird, Jody Hessling, Araceli Solis, Carol J. Blaisdell, Raquel Halfond, Erica Burnell, Nirupama Laroia, Georgia E. McDavid, Namasivayam Ambalavanan, Sally S. Adams, Korinne Chiu, Cynthia Spencer, Lucy Noel, Melissa Martin, Nora I. Alaniz, James R. Moore, Ricki F. Goldstein, Janell Fuller, Melissa H. Lepps, Anne Furey, Diane L. Eastman, Jonathan M. Klein, Anna E. Lis
Publikováno v:
J Pediatr
OBJECTIVE: To evaluate the effects of early treatment with CPAP on nutritional intake and in-hospital growth rates of extremely preterm (EPT) infants. STUDY DESIGN: EPT infants (24–0/7 to 27–6/7 weeks of gestation) enrolled in the Surfactant Posi
Autor:
Rachel J. Hundley, Miganush Stepanians, Sarika U. Peters, Nicole LaVallee, Lynne M. Bird, Wen-Hann Tan, Anjali Sadhwani, Hillary Miller, Rene Barbieri-Welge, Lucia T. Horowitz, Jennifer M. Willen, Lisa M. Noll
Publikováno v:
American journal of medical genetics. Part A. 179(6)
Maladaptive behaviors are challenging and a source of stress for caregivers of individuals with Angelman Syndrome (AS). There is limited information on how these maladaptive behaviors vary over time among individuals with AS due to different genetic
Autor:
Andrea F. Duncan, Carla M. Bann, Allison Dempsey, Myriam Peralta-Carcelen, Susan Hintz, Alan H. Jobe, Michael S. Caplan, Abbot R. Laptook, Betty R. Vohr, William Oh, Angelita M. Hensman, Barbara Alksninis, Dawn Andrews, Kristen Angela, Susan Barnett, Bill Cashore, Melinda Caskey, Kim Francis, Dan Gingras, Katharine Johnson, Theresa M. Leach, Bonnie E. Stephens, Victoria E. Watson, Michele C. Walsh, Avroy A. Fanaroff, Nancy S. Newman, Deanne E. Wilson-Costello, Bonnie S. Siner, Arlene Zadell, Julie DiFiore, Monika Bhola, Harriet G. Friedman, Gulgun Yalcinkaya, Dorothy Bulas, Ronald N. Goldberg, C. Michael Cotten, Ricki F. Goldstein, Patricia Ashley, Kathy J. Auten, Kimberley A. Fisher, Katherine A. Foy, Sharon F. Freedman, Kathryn E. Gustafson, Melody B. Lohmeyer, William F. Malcolm, David K. Wallace, David P. Carlton, Barbara J. Stoll, Ira Adams-Chapman, Susie Buchter, Anthony J. Piazza, Sheena Carter, Sobha Fritz, Ellen C. Hale, Amy K. Hutchinson, Maureen Mulligan LaRossa, Rosemary D. Higgins, Stephanie Wilson Archer, Gregory M. Sokol, Brenda B. Poindexter, Anna M. Dusick, James A. Lemons, Leslie D. Wilson, Faithe Hamer, Ann B. Cook, Dianne E. Herron, Carolyn Lytle, Heike M. Minnich, Mary Anne Berberich, Carol J. Blaisdell, Dorothy B. Gail, James P. Kiley, Abhik Das, Marie G. Gantz, Jamie E. Newman, Helen Cheng, Betty K. Hastings, Elizabeth M. McClure, Jeanette O'Donnell Auman, Carolyn Petrie Huitema, W. Kenneth Poole, James W. Pickett, Dennis Wallace, Lisa A. Wrage, Kristin M. Zaterka-Baxter, Krisa P. Van Meurs, David K. Stevenson, M. Bethany Ball, Patrick D. Barnes, Barbara Bentley, Elizabeth F. Bruno, Maria Elena DeAnda, Anne M. DeBattista, Jean G. Kohn, Melinda S. Proud, Renee P. Pyle, Hali E. Weiss, Ivan D. Frantz, John M. Fiascone, Elisabeth C. McGowan, Anne Furey, Brenda L. MacKinnon, Ellen Nylen, Ana Brussa, Cecelia Sibley, Waldemar A. Carlo, Namasivayam Ambalavanan, Monica V. Collins, Shirley S. Cosby, Vivien A. Phillips, Kirstin J. Bailey, Fred J. Biasini, Maria Hopkins, Kristen C. Johnston, Kathleen G. Nelson, Cryshelle S. Patterson, Richard V. Rector, Leslie Rodriguez, Amanda Soong, Sally Whitley, Sheree York, Neil N. Finer, Maynard R. Rasmussen, Paul R. Wozniak, Yvonne E. Vaucher, Wade Rich, Kathy Arnell, Rene Barbieri-Welge, Ayala Ben-Tall, Renee Bridge, Clarence Demetrio, Martha G. Fuller, Elaine Ito, Meghan Lukasik, Deborah Pontillo, Donna Posin, Cheryl Runyan, James Wilkes, Paul Zlotnik, Edward F. Bell, John A. Widness, Michael J. Acarregui, Jonathan M. Klein, Tarah T. Colaizy, Karen J. Johnson, Diane L. Eastman, Shahnaz Duara, Charles R. Bauer, Ruth Everett-Thomas, Maria Calejo, Alexis N. Diaz, Silvia M. Frade Eguaras, Andrea Garcia, Kasey Hamlin-Smith, Michelle Harwood Berkowits, Sylvia Hiriart-Fajardo, Elaine O. Mathews, Helina Pierre, Arielle Riguard, Alexandra Stroerger, Kristi L. Watterberg, Robin K. Ohls, Janell Fuller, Julie Rohr, Conra Backstrom Lacy, Jean Lowe, Rebecca Montman, Sandra Brown, Nirupama Laroia, Dale L. Phelps, Gary J. Myers, Gary D. Markowitz, Linda J. Reubens, Diane Hust, Lisa Augostino, Julie Babish Johnson, Erica Burnell, Harris Gelbard, Rosemary L. Jensen, Emily Kushner, Joan Merzbach, Jonathan Mink, Carlos Torres, David Wang, Kelley Yost, Pablo J. Sánchez, Charles R. Rosenfeld, Walid A. Salhab, Roy J. Heyne, Sally S. Adams, James Allen, Laura Grau, Alicia Guzman, Gaynelle Hensley, Elizabeth T. Heyne, Jackie F. Hickman, Melissa H. Leps, Linda A. Madden, Melissa Martin, Nancy A. Miller, Janet S. Morgan, Araceli Solis, Lizette E. Torres, Catherine Twell Boatman, Diana M. Vasil, Kathleen A. Kennedy, Jon E. Tyson, Patricia W. Evans, Esther G. Akpa, Nora I. Alaniz, Beverly Foley Harris, Charles Green, Margarita Jiminez, Anna E. Lis, Sarah Martin, Georgia E. McDavid, Brenda H. Morris, Margaret L. Poundstone, Stacy Reddoch, Saba Siddiki, Patti L. Pierce Tate, Sharon L. Wright, Bradley A. Yoder, Roger G. Faix, Shawna Baker, Karie Bird, Anna E. Bullwinkle, Jill Burnett, Laura Cole, Karen A. Osborne, Cynthia Spencer, R. Edison Steele, Michael Steffen, Kimberlee Weaver-Lewis, T. Michael O'Shea, Robert G. Dillard, Lisa K. Washburn, Nancy J. Peters, Barbara G. Jackson, Korinne Chiu, Deborah Evans Allred, Donald J. Goldstein, Raquel Halfond, Carroll Peterson, Ellen L. Waldrep, Cherrie D. Welch, Melissa Whalen Morris, Gail Wiley Hounshell, Seetha Shankaran, Beena G. Sood, Thomas L. Slovis, Athina Pappas, Rebecca Bara, Elizabeth Billian, Laura A. Goldston, Mary Johnson
Publikováno v:
The Journal of pediatrics. 204
Objective To investigate associations in toddlers born extremely preterm ( Study design Cohort analysis from the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network Surfactant Positive Airway Pres
Autor:
Hillary C. Chu, Logan K. Wink, Anne Slavotinek, Rachel J. Hundley, Cary Fu, Mark Nespeca, Steven A. Skinner, Annapurna Poduri, Jennifer M. Willen, Heather E. Olson, Carlos A. Bacino, Lucia T. Horowitz, Edwin J. Weeber, Lynne M. Bird, Kevin F. Haas, Gregory N. Barnes, Rita J. Jeremy, Wen-Hann Tan, Rene Barbieri-Welge, Anjali Sadhwani, Craig A. Erickson, Sanjeev V. Kothare, Paul A. Rufo, Alexander Rotenberg, Lisa M. Noll
Publikováno v:
American journal of medical genetics. Part A, vol 176, iss 5
Treatment for Angelman syndrome is currently limited to symptomatic interventions. A mouse model of Angelman syndrome has reduced calcium/calmodulin-dependent kinase II activity due to excessive phosphorylation of specific threonine residues, leading
Autor:
Lynne M. Bird, Lucia T. Horowitz, Daniel G. Glaze, Sarika U. Peters, Carlos A. Bacino, Steven A. Skinner, Susan E. Waisbren, Irina Anselm, Arthur L. Beaudet, Dean Sarco, Wen-Hann Tan, Rene Barbieri-Welge, K. Naga Mohan, Mark Nespeca, Trilochan Sahoo, Jennifer K. Gentile, Astrid Bauer-Carlin
Publikováno v:
American Journal of Medical Genetics Part A. 155:2956-2963
Angelman syndrome (AS) is due to deficient ubiquitin protein ligase 3a, the gene for which (UBE3A) maps to chromosome 15q11–q13 and is imprinted such that only the maternally inherited gene is expressed. The paternally inherited UBE3A gene is silen
Autor:
Rachel J. Hundley, Rene Barbieri-Welge, Lucia T. Horowitz, Julie Lounds Taylor, Sarika U. Peters
Publikováno v:
Journal of Child Psychology and Psychiatry. 53:152-159
Background: Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual disability, lack of speech, and low threshold for laughter; it is considered a ‘syndromic’ form of autism spectrum disorder (ASD). Previous studies
Autor:
Hye-Seung Lee, Irina Anselm, Arthur L. Beaudet, Dean Sarco, Sanjeev V. Kothare, Terry Jo Bichell, Trilochan Sahoo, Susan E. Waisbren, Sarika U. Peters, Rene Barbieri-Welge, Daniel G. Glaze, Jennifer K. Gentile, Lynne M. Bird, Astrid Bauer-Carlin, Steven A. Skinner, Carlos A. Bacino, Mark Nespeca, Wen-Hann Tan, Lucia T. Horowitz
Publikováno v:
American Journal of Medical Genetics Part A. 155:81-90
Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. Although the “classic” features of AS are well described, few large-scale studies have delineated the clinical features in AS. W
Autor:
Sarika U, Peters, Lucia, Horowitz, Rene, Barbieri-Welge, Julie Lounds, Taylor, Rachel J, Hundley
Publikováno v:
Journal of child psychology and psychiatry, and allied disciplines. 53(2)
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual disability, lack of speech, and low threshold for laughter; it is considered a 'syndromic' form of autism spectrum disorder (ASD). Previous studies have indicated