Zobrazeno 1 - 10
of 125
pro vyhledávání: '"Julian A. Martinez-Agosto"'
Autor:
Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W. Frazier, Siddharth Srivastava, Sumit Parikh, Gary E. Hsich, Neil R. Friedman, David M. Ritter, Antonio Y. Hardan, Julian A. Martinez‐Agosto, Mustafa Sahin, Charis Eng
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1301-1309 (2024)
Abstract Objective PTEN, a known tumor suppressor gene, is a mediator of neurodevelopment. Individuals with germline pathogenic variants in the PTEN gene, molecularly defined as PTEN hamartoma tumor syndrome (PHTS), experience a variety of neurologic
Externí odkaz:
https://doaj.org/article/e627e51a7036402a954a98ebc3dbbd28
Autor:
Judith Fan, T. Niroshini Senaratne, Jason Y. Liu, Michelle Bina, Julian A. Martinez-Agosto, Fabiola Quintero-Rivera, Jessica J. Wang
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
Abstract Background Unbalanced translocations can cause developmental delay (DD), intellectual disability (ID), growth problems, dysmorphic features, and congenital anomalies. They may arise de novo or may be inherited from a parent carrying a balanc
Externí odkaz:
https://doaj.org/article/58067825384243b88f11aff596c9d9d0
Autor:
Robyn M. Busch, Thomas W. Frazier II, Claire Sonneborn, Olivia Hogue, Patricia Klaas, Siddharth Srivastava, Antonio Y. Hardan, Julian A. Martinez-Agosto, Mustafa Sahin, Charis Eng
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-12 (2023)
Abstract Background Individuals with PTEN hamartoma tumor syndrome (PHTS) demonstrate a distinct neurobehavioral profile suggesting primary disruption of frontal lobe symptoms, with more severe cognitive deficits in those with associated autism spect
Externí odkaz:
https://doaj.org/article/d895860aef24479eb511cd9bcc37c4bb
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Endometriosis is a common reproductive disease with a heterogeneous presentation. Classification attempts have thus far not offered insight into its cause or its symptoms. Endometriosis may result from the migration of shed endometrium to th
Externí odkaz:
https://doaj.org/article/965e2471763e4eb6a2ff239b702baa3f
Autor:
Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through
Externí odkaz:
https://doaj.org/article/c447334b912746929ee920eb4139f48f
Autor:
Sureni V. Mullegama, Steven D. Klein, Stephen R. Williams, Jeffrey W. Innis, Frank J. Probst, Chad Haldeman-Englert, Julian A. Martinez-Agosto, Ying Yang, Yuchen Tian, Sarah H. Elsea, Toshihiko Ezashi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract MBD5-associated neurodevelopmental disorder (MAND) is an autism spectrum disorder (ASD) characterized by intellectual disability, motor delay, speech impairment and behavioral problems; however, the biological role of methyl-CpG-binding doma
Externí odkaz:
https://doaj.org/article/e6d18d28ad8c4705b934f15392ca5b20
Autor:
Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intel
Externí odkaz:
https://doaj.org/article/8bc14e835d25412b97b23f80259be0cf
Autor:
Thomas W. Frazier, Ritika Jaini, Robyn M. Busch, Matthew Wolf, Tammy Sadler, Patricia Klaas, Antonio Y. Hardan, Julian A. Martinez-Agosto, Mustafa Sahin, Charis Eng, the Developmental Synaptopathies Consortium
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-14 (2021)
Abstract Background PTEN is a well-established risk gene for autism spectrum disorder (ASD). Yet, little is known about how PTEN mutations and associated molecular processes influence neurobehavioral function in mutation carriers with (PTEN-ASD) and
Externí odkaz:
https://doaj.org/article/d4cdaba4f0274c65bdeb0e800665007f
Autor:
Frank Diaz, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow, Rebecca Signer, Naghmeh Dorrani, Allison Zheng, Matthew Herzog, Robert Freundlich, Undiagnosed Diseases Network, J. Brandon Birath, Yurivia Cervantes‐Manzo, Julian A. Martinez‐Agosto, Christina Palmer, Stanley F. Nelson, Brent L. Fogel, Shri K. Mishra
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2320-2325 (2020)
Abstract Exome or genome sequencing was performed to identify the genetic etiology for the clinical presentation of global developmental delay, intellectual disability, and sensorimotor neuropathy with associated distal weakness in two unrelated fami
Externí odkaz:
https://doaj.org/article/a293335fdb084d1fa6a06c767cefacc1
Autor:
Morgan Steele, Mirko Uljarević, Gaëlle Rached, Thomas W. Frazier, Jennifer M. Phillips, Robin A. Libove, Robyn M. Busch, Patricia Klaas, Julian A. Martinez-Agosto, Siddharth Srivastava, Charis Eng, Mustafa Sahin, Antonio Y. Hardan
Publikováno v:
Frontiers in Psychiatry, Vol 12 (2021)
Germline heterozygous PTEN mutations have been associated with high prevalence of autism spectrum disorder (ASD) and elevated rates and severity of broadly defined behavioral problems. However, limited progress has been made toward understanding whet
Externí odkaz:
https://doaj.org/article/d3ba4bd56d2946178a59d34f216b9559