Results 121 to 130 of about 674,158 (360)
Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird +4 morewiley +1 more sourceAutism as a disorder of neural information processing: directions for research and targets for therapy [PDF]
, 2004 The broad variation in phenotypes and severities within autism spectrum disorders suggests the involvement of multiple predisposing factors, interacting in complex ways with normal developmental courses and gradients. Identification of these factors, and A Klin, A Klin, A Peters, A Pickles, A Shah, A Shah, AL Beaudet, AM Comi, AM Connolly, AY Hardan, BF Sparks, BK Lipska, C Hughes, C Hughes, C Kemner, C Kemner, C Lord, C Park, CF Hohmann, CJ Machado, Cohen, CT Ashley Jr, D Tantam, D Whitehouse, DB Bailey Jr, DH Geschwind, DJ Laurie, DJ Posey, DL Braff, DR Denney, DW Smith, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Fombonne, E Fransen, E Perry, E Tierney, EF Chang, EH Aylward, EH Aylward, EH Cook Jr, EH Cook Jr, EM Ornitz, EM Powell, F Castelli, F Graham, F Happ, F Kimura, G Raymond, GE Homanics, GJ Blatt, GM Anderson, GM McAlonan, GS Huh, GS Tint, GT Baranek, H Kamiguchi, H van Engeland, HA Ring, HD Critchley, I Cohen, I Krause, I Lucki, IJ Weiler, IM Smith, J Boucher, J Caston, J DeFelipe, J Piven, J Piven, J Piven, J Russell, J Townsend, J Townsend, J Townsend, J Veenstra-VanderWeele, J.L. McCauley, JA Burack, JA Court, JA Lamb, JE Long, JK Pritchard, JL Ingram, JLR Rubenstein, JM Silverman, JP Wisor, K Ballaban-Gil, K Hugdahl, K Pierce, K Pierce, K Rubia, KC Plaisted, KG Plaisted, KY Miyashiro, L Jorde, L Mottron, L Shi, LH Rolf, LJ Miller, LM Boulanger, LM Marubio, LR Cardon, M Alkondon, M Hallett, M Kuwamura, M Lauritsen, M Lee, M Pieretti, M Toichi, MA Geyer, MA Geyer, MA O'Riordan, Martha R. Herbert, MF Casanova, MH Johnson, MK Belmonte, MK Belmonte, MK Belmonte, ML Bauman, MR Picciotto, MR Young, MV Pletnikov, N Akshoomoff, N Risch, NL Ward, NR Mirza, NR Swerdlow, NR Swerdlow, O Marin, P Dalton, P Tueting, PH Patterson, PI Yakovlev, PK Todd, PM Whitaker-Azmitia, R DeLong, R Galvez, R Lalonde, R-A Müller, RA Carper, RA Corriveau, RC Belser, RE Amir, RI Kelley, RJ Schain, RM Carney, RN Leaton, RP Hobson, RP Warren, RP Warren, RP Warren, RT Schultz, S Alcantara, S Anderson, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Bobee, S Chakrabarti, S Gupta, S Jamain, S Ozonoff, S Stevens, S Tordjman, S Tordjman, SA Irwin, SA Irwin, SB Powell, SD Ugarte, SE Folstein, SE Folstein, SH Fatemi, SJ Kim, SJ Rogers, T Hashimoto, T Rogers, T Stühmer, T Stühmer, TA Comery, TH Wassink, TK Hensch, TM DeLorey, U Frith, U Frith, W Hirstein, W Reik, WT Greenough, Y Yu, YH Jiang, YH Jiang +197 morecore +1 more sourceCase Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...Russell Stewart, Kimberly M. Ezell, Deanna S. Bell, Brian Corner, Ashley McMinn, Joy D. Cogan, Rizwan Hamid, Lynette Rives, John A. Phillips III, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A. Ladha, Claudia Soler‐Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B. Sheedy, Undiagnosed Diseases Network, Aaron Quinlan, Abdul Elkadri, Adeline Vanderver, Adriana Rebelo, Alan H. Beggs, Albert R. La Spada, Alden Huang, Alex Paul, Alexander Miller, Ali Al‐Beshri, Alistair Ward, Allen Bale, Allyn McConkie‐Rosell, Alyssa A. Tran, Andrea Gropman, Andres Vargas, Andrew B. Crouse, Andrew Stergachis, Anna Hurst, Anna Raper, Arjun Tarakad, Ashley Andrews, Ashley McMinn, Ashok Balasubramanyam, Barbara N. Pusey Swerdzewski, Beatriz Anguiano, Ben Solomon, Beth A. Martin, Bianca E. Russell, Brandon M Wilk, Breanna Mitchell, Brendan C. Lanpher, Brendan H. Lee, Brent L. Fogel, Brett Bordini, Brett H. Graham, Brian Corner, Brianna Tucker, Bruce Korf, Calum A. MacRae, Camilo Toro, Cara Skraban, Carlos A. Bacino, Carol Oladele, Caroline Hendry, Carson A. Smith, Cecilia Esteves, Changrui Xiao, Chloe M. Reuter, Christine M. Eng, Chun‐Hung Chan, Colleen E. Wahl, Corrine K. Welt, Cynthia J. Tifft, Dana Kiley, Daniel J. Rader, Daniel Wegner, Danny Miller, Daryl A. Scott, Dave Viskochil, David A. Sweetser, David R. Adams, Deborah Barbouth, Deepak A. Rao, Devin Oglesbee, Devon Bonner, Donald Basel, Donna Novacic, Dustin Baldridge, Edward Behrens, Edwin K. Silverman, Elaine Seto, Elijah Kravets, Elisabeth Rosenthal, Elizabeth A Worthey, Elizabeth A. Burke, Elizabeth Blue, Elizabeth C. Chao, Elizabeth L. Fieg, Ellen F. Macnamara, Elsa Balton, Emily Glanton, Emily Shelkowitz, Emily Wang, Eric Allenspach, Eric Klee, Eric Vilain, Erin Conboy, Erin E. Baldwin, Erin McRoy, Esteban C. Dell’Angelica, Euan A. Ashley, F. Sessions Cole, Filippo Pinto, Frances High, Francesco Vetrini, Francis Rossignol, Francisco Bustos, Fuki M. Hisama, Gabor Marth, Gail P. Jarvik, Gary D. Clark, George Carvalho, Gerard T. Berry, Ghayda Mirzaa, Giorgio Sirugo, Gonench Kilich, Guney Bademci, Hector Rodrigo Mendez, Heidi Wood, Herman Taylor, Holly K. Tabor, Hongzheng Dai, Hsiao‐Tuan Chao, Hua Xu, Hugo J. Bellen, Hui Zhang, Ian Glass, Ian R. Lanza, Ingrid A. Holm, Isaac S. Kohane, Isum Ward, Ivan Chinn, J. Carl Pallais, Jacinda B. Sampson, James P. Orengo, James Verbsky, Jared Sninsky, Jason Hom, Jason Schend, Jennefer N. Kohler, Jennifer E. Posey, Jennifer Morgan, Jennifer Schymick, Jennifer Wambach, Jessica Douglas, Jiayu Fu, Jill A. Rosenfeld, Jimann Shin, Joan M. Stoler, Joanna M. Gonzalez, John A. Phillips, John Carey, John E. Gorzynski, John J. Mulvihill, Joie Davis, Jonathan A. Bernstein, Jordan Whitlock, Jose Abdenur, Joseph Loscalzo, Joy D. Cogan, Julian A. Martínez‐Agosto, Julie McCarrier, Justin Alvey, Kahlen Darr, Kaitlin Callaway, Kathleen A. Leppig, Kathleen Sullivan, Kathy Sisco, Kathyrn Singh, Katrina Dipple, Kayla M. Treat, Kelly Hassey, Kelly Schoch, Kevin S. Smith, Khurram Liaqat, Kim Worley, Kimberly Ezell, Kimberly LeBlanc, Kumarie Latchman, Lance H. Rodan, Laura Keehan, Laura Pace, Laurel A. Cobban, Lauren Blieden, Lauren C. Briere, Lauren Jeffries, Laurens Wiel, Layal F. Abi Farraj, Leoyklang Petcharet, LéShon Peart, Lili Mantcheva, Lilianna Solnica‐Krezel, Lindsay C. Burrage, Lindsay Mulvihill, Lisa Schimmenti, Lisa T. Emrick, Lorenzo Botto, Lorraine Potocki, Lynette Rives, Lynne A. Wolfe, Maija‐Rikka Steenari, Manish J. Butte, Margaret Delgado, María José Ortuño Romero, Maria T. Acosta, Marie Morimoto, Mariko Nakano‐Okuno, Mark Gerstein, Mark Wener, Marla Sabaii, Martha Horike‐Pyne, Martin G. Martin, Martin Rodriguez, Matt Velinder, Matthew Coggins, Matthew Might, Matthew T. Wheeler, MayChristine V. Malicdan, Megan Bell, Meghan C. Halley, Melissa Walker, Mia Levanto, Michael Bamshad, Michael F. Wangler, Michael Muriello, Michael Zimmermann, Michele Spencer‐Manzon, Miranda Leitheiser, Mohamad Mikati, Mohamad Saifeddine, Monika Weisz Hubshman, Monkol Lek, Monte Westerfield, Mustafa Tekin, Nada Derar, Naghmeh Dorrani, Neil H. Parker, Neil Hanchard, Nicholas Borja, Nicola Longo, Nicole M. Walley, Nitsuh K. Dargie, Odelya Kaufman, Oguz Kanca, Orpa Jean‐Marie, Page C. Goddard, Paolo Moretti, Patricia A. Ward, Patricia Dickson, Paul Berger, Paul G. Fisher, Pengfei Liu, Peter Byers, Pinar Bayrak‐Toydemir, Precilla D’Souza, Queenie Tan, Rachel A. Ungar, Rachel Li, Rachel Mahoney, Ramakrishnan Rajagopalan, Raquel L. Alvarez, Rebecca C. Spillmann, Rebecca Ganetzky, Rebecca Overbury, Rebekah Barrick, Richard A. Lewis, Richard L. Maas, Rizwan Hamid, Rong Mao, Ronit Marom, Rosario I. Corona, Runjun Kumar, Russell Butterfield, Sanaz Attaripour, Sandesh Nagamani, Sara Emami, Seema R. Lalani, Serena Neumann, Seth Perlman, Shamika Ketkar, Shamil R. Sunyaev, Shilpa N. Kobren, Shinya Yamamoto, Shrikant Mane, Shruti Marwaha, Sirisak Chanprasert, Stanley F. Nelson, Stephan Zuchner, Stephanie Bivona, Stephanie M. Ware, Stephen B Montgomery, Stephen Pak, Steven Boyden, Suha Bachir, Surendra Dasari, Susan Korrick, Suzanne Sandmeyer, Tahseen Mozaffar, Tammi Skelton, Tanner D Jensen, Tarun KK Mamidi, Taylor Beagle, Taylor Maurer, Teodoro Jerves Serrano, Terra R. Coakley, Thomas Cassini, Thomas J. Nicholas, Timothy Schedl, Tiphanie P. Vogel, Vaidehi Jobanputra, Valerie V. Maduro, Vandana Shashi, Vasilis Vasiliou, Virginia Sybert, Vishnu Cuddapah, Wendy Introne, Wendy Raskind, Willa Thorson, William A. Gahl, William E. Byrd, William J. Craigen, Winston Halstead, Yan Huang, Yigit Karasozen, Yong‐Hui Jiang, Thomas Cassini +336 morewiley +1 more sourceAre autistic traits measured equivalently in individuals with and without an Autism Spectrum Disorder?:An invariance analysis of the Autism Spectrum Quotient Short Form [PDF]
, 2014 It is common to administer measures of autistic traits to those without autism spectrum disorders (ASDs) with, for example, the aim of understanding autistic personality characteristics in non-autistic individuals. Little research has examined the extent Aja L. Murray, C Allison, D Borsboom, EJ Austin, ES Kim, FF Chen, FF Chen, G Rajendran, JL Matson, JN Constantino, K Schermelleh-Engel, Karen McKenzie, LK Muthén, LT Hu, M Rhemtulla, Michael O’Donnell, ML Matson, RA Hoekstra, Renate Kuenssberg, RJ Vandenberg, RP McDonald, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Lundström, S Stark, S Wheelwright, SA Johnson, SJ Rogers, Tom Booth, TT Rivet, TW Frazier, TW Frazier, W Meredith, Y Kunihira, YJ Sung +35 morecore +1 more sourceDe Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.Theresa Brunet, Michael Zech, Ulrich A. Schatz, Miriam Adamovičová, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Heike Weigand, Robert Jech, Thomas Meitinger, Juliane Winkelmann, Melanie Brugger +11 morewiley +1 more sourceA Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.Sarah Jurgensmeyer Langas, Allison Goetsch Weisman, Valerie Allegretti, Katherine Kim, Roxanne Birriel, Carlos E. Prada +5 morewiley +1 more source
