Comparative study on predicting ADNP syndrome using deep learning algorithms

Authors: Kumar, V. Uday, Dundy Sai Maruthi, P., Teja, P. Viswa, Venkata Sai, A.

Source: 2021 2nd International Conference on Smart Electronics and Communication (ICOSEC) Smart Electronics and Communication (ICOSEC), 2021 2nd International Conference on. :1320-1324 Oct, 2021

Relation: 2021 2nd International Conference on Smart Electronics and Communication (ICOSEC)

Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report

Authors: Ebtesam Al-Enezi, Mohannad Alghamdi, Khaled Al-Enezi, Mohammed AlBalwi, William Davies, Wafaa Eyaid

Source: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)

Subject Terms: ADNP gene, Case report, Facial dysmorphism, Helsmoortel-Van der Aa syndrome, Neurodevelopmental disorder, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1752-1947

Access URL: https://doaj.org/article/4391b1ee20994c5dbbc096c1d8e63eee

Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients

Authors: Claudio Peter D’Incal, Elisa Cappuyns, Kaoutar Choukri, Kevin De Man, Kristy Szrama, Anthony Konings, Lina Bastini, Kim Van Meel, Amber Buys, Michele Gabriele, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Fabio Mohn, Marc Bühler, Nathalie Van der Aa, Anke Van Dijck, R. Frank Kooy, Wim Vanden Berghe

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-23 (2024)

Subject Terms: Activity-dependent neuroprotective protein (ADNP), Helsmoortel-Van der Aa syndrome (HVDAS), Antibody validation, Blocking peptide competition assay, Adnp knock-out cell line, Immunoprecipitation, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/f7c381ec5b634584bcd2d05f0e32ea1f

Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Authors: Chuanhui Ge, Yuxin Tian, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Ying Zhang, Huiping Li, Daijing Sun, Wenzhu Peng, Xiu Xu, Yan Jiang, Qiong Xu

Source: Molecular Autism, Vol 15, Iss 1, Pp 1-14 (2024)

Subject Terms: Helsmoortel–Van der Aa syndrome, HVDAS, ADNP syndrome, ADNP variants, Autism spectrum disorder, Global developmental delay, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/bf13e8579f6a4e5fae582b6bf12f1f4c

Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism

Authors: Claudio Peter D’Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R. Frank Kooy

Source: Clinical Epigenetics, Vol 15, Iss 1, Pp 1-28 (2023)

Subject Terms: Helsmoortel–Van der Aa syndrome, Activity-Dependent Neuroprotective Protein, ADNP, Chromatin remodeler, Autism, intellectual disability, neurodevelopmental disorder, cancer, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1868-7083

Access URL: https://doaj.org/article/4fd1319c8f87495ca67f5845e1e6e030

Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report

Authors: Li-juan Chen, Zhong-min You, Wen-hong Chen, Si Yang, Chun-chen Feng, Hai-yong Wang, Ting Wang, Yuan-yuan Zhu

Source: Frontiers in Pediatrics, Vol 11 (2023)

Subject Terms: Helsmoortel–van der Aa syndrome, ADNP, developmental delay, autism spectrum disorder, case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1122513/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/90282b0a96a6481889231baee9efe35f

An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome

Authors: Alexander Kolevzon, Tess Levy, Sarah Barkley, Sandra Bedrosian-Sermone, Matthew Davis, Jennifer Foss-Feig, Danielle Halpern, Katherine Keller, Ana Kostic, Christina Layton, Rebecca Lee, Bonnie Lerman, Matthew Might, Sven Sandin, Paige M. Siper, Laura G. Sloofman, Hannah Walker, Jessica Zweifach, Joseph D. Buxbaum

Source: HGG Advances, Vol 3, Iss 4, Pp 100138- (2022)

Subject Terms: Helsmoortel-Van der Aa syndrome, ADNP, ketamine, autism spectrum disorder, ASD, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000549; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/412d4f45e9134c2e94281d86bbd7955b

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Authors: Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic

Source: Clinical Epigenetics, Vol 11, Iss 1, Pp 1-17 (2019)

Subject Terms: Epigenetics, Episignature, DNA methylation, ADNP, Helsmoortel-Van der Aa syndrome, Autism, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13148-019-0658-5; https://doaj.org/toc/1868-7075; https://doaj.org/toc/1868-7083

Access URL: https://doaj.org/article/57a3f24470ab45e9a3daea857bcee71b

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