Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Anna Childers"'
Autor:
James Chettle, Raymond J. Louie, Olivia Larner, Robert Best, Kevin Chen, Josephine Morris, Zinaida Dedeic, Anna Childers, R. Curtis Rogers, Barbara R. DuPont, Cindy Skinner, Sébastien Küry, Kevin Uguen, Marc Planes, Danielle Monteil, Megan Li, Aviva Eliyahu, Lior Greenbaum, Nofar Mor, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Alyssa Blesson, Anne Comi, Ingrid M. Wentzensen, Blake Vuocolo, Seema R. Lalani, Roberta Sierra, Lori Berry, Kent Carter, Stephan J. Sanders, Sarah P. Blagden
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100345- (2024)
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around 2
Externí odkaz:
https://doaj.org/article/e0e49cd5da4340678f3756e671807267
Autor:
Kaitlyn N. Greenwood, Courtney L. King, Isabella Melena, Katherine A. Stegemann, Maura Donnelly, Anna Childers, Raegan Mozal, Carina A. Collins, Benjamin J. Spears
Publikováno v:
Plant Direct, Vol 7, Iss 8, Pp n/a-n/a (2023)
Abstract Phloem is a critical tissue for transport of photosynthates and extracellular signals in vascular plants. However, it also represents an ideal environment for pathogens seeking access to valuable host nutrients. Although many vascular pathog
Externí odkaz:
https://doaj.org/article/172917dc2c9c4aa7aa8b74e9de6ee2ac
Autor:
Xuemei Shi, Daniel Moats, Daniel Magner, Anna Childers, Meg Keating, R. Curtis Rogers, Jennifer Lee
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100605- (2023)
Externí odkaz:
https://doaj.org/article/8c7db9fc46fb47c1a1afc692eac89e7b
Autor:
Matthew Tedder, Jessica Cooley Coleman, Anna Childers, Jennifer Kerkhof, Raymond Louie, Jennifer Lee, Michael Friez, Bekim Sadikovic, David Everman, Richard Rogers, Raymond Caylor
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100616- (2023)
Externí odkaz:
https://doaj.org/article/41b97a149c514fe2b6bf26e1a7c09949
Autor:
Kathleen Doherty, S. Barron Frazier, Matthew Clark, Anna Childers, Sumit Pruthi, David A. Wenger, Jessica Duis
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skil
Externí odkaz:
https://doaj.org/article/1e6234d8bbac4e01a18b31c831e9365a
Autor:
Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Matthew L. Tedder, Raymond J. Louie, Robin S. Fletcher, Hannah W. Moore, Anna Childers, Ellyn R. Farrelly, Neena L. Champaigne, Michael J. Lyons, David B. Everman, R. Curtis Rogers, Steven A. Skinner, Alicia Renck, Dena R. Matalon, Shelley K. Dills, Berrin Monteleone, Serwet Demirdas, Alexander J.M. Dingemans, Laura Donker Kaat, Sharon M. Kolk, Rolph Pfundt, Patrick Rump, Bekim Sadikovic, Tjitske Kleefstra, Kameryn M. Butler
Publikováno v:
Genetics in Medicine, 25, 1, pp. 63-75
Genetics in Medicine, 25(1), 63-75. Lippincott Williams & Wilkins
Genetics in Medicine, 25, 63-75
Genetics in Medicine, 25(1), 63-75. Nature Publishing Group
Genetics in Medicine, 25(1), 63-75. Lippincott Williams & Wilkins
Genetics in Medicine, 25, 63-75
Genetics in Medicine, 25(1), 63-75. Nature Publishing Group
Purpose: Witteveen-Kolk syndrome (WITKOS) is a rare, autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function alterations in the SIN3A gene. WITKOS has variable expressivity that commonly overlaps with other neurodevelop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81eebd5981e9df333897e90646b216f2
https://repository.ubn.ru.nl/handle/2066/290129
https://repository.ubn.ru.nl/handle/2066/290129
Autor:
Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne-Sophie Denommé-Pichon, Boris Keren, Cyril Mignot, Martine Doco-Fenzy, Lance Rodan, Keri Ramsey, Vinodh Narayanan, Julie R Jones, Eloise J Prijoles, Wendy G Mitchell, Jillian R Ozmore, Kali Juliette, Erin Torti, Elizabeth A Normand, Leslie Granger, Andrea K Petersen, Margaret G Au, Juliann P Matheny, Chanika Phornphutkul, Mary-Kathryn Chambers, Joaquín-Alejandro Fernández-Ramos, Eduardo López-Laso, Michael C Kruer, Somayeh Bakhtiari, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Davide Mei, Tiziana Pisano, Renzo Guerrini, Raymond J Louie, Anna Childers, David B Everman, Betrand Isidor, Séverine Audebert-Bellanger, Sylvie Odent, Dominique Bonneau, Brigitte Gilbert-Dussardier, Richard Redon, Stéphane Bézieau, Frédéric Laumonnier, Esther T Stoeckli, Annick Toutain, Marie-Laure Vuillaume
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Hum Mol Genet
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Hum Mol Genet
Intellectual disability (ID) is a neurodevelopmental disorder frequently caused by monogenic defects. In this study, we collected 14 SEMA6B heterozygous variants in 16 unrelated patients referred for ID to different centers. Whereas, until now, SEMA6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d974822a75fd96597543ff49dc52620f
https://hdl.handle.net/10807/232271
https://hdl.handle.net/10807/232271
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Angelman Syndrome (AS) is a neurodevelopmental disorder with core features of intellectual disability, speech impairment, movement disorders, and a unique behavioral profile. Typically, AS results from absent maternal expression of UBE3A,
Autor:
Matthew Clark, S. Barron Frazier, Jessica Duis, Sumit Pruthi, David A. Wenger, Kathleen M. Doherty, Anna Childers
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 19, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports, Vol 19, Iss, Pp-(2019)
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skil
Autor:
Elly Brokamp, Ashley H. Shoemaker, Nathan C. Bingham, Laura Fairbrother, Ann O. Scheimann, Jennifer L. Miller, Althea Robinson Shelton, Jessica Duis, Parisa Salehi, Anna Childers, Pieter Joost van Wattum
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Prader–Willi syndrome (PWS) is a complex neuroendocrine disorder affecting approximately 1/15,000–1/30,000 people. Unmet medical needs of individuals with PWS make it a rare disease that models the importance of multidisciplinary appro