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Select item 109658951.

Relationship between serum cortisol levels, stereotypies, and the presence of autism spectrum disorder in patients with severe intellectual disability

Takeru Ohtsubo, Yoshito Mizoguchi, Chie Aita, Yoshiomi Imamura, Momoko Kobayashi, Yutaka Kunitake, Hiroshi Tateishi, Takefumi Ueno, Akira Monji

Sci Rep. 2024; 14: 7139. Published online 2024 Mar 26. doi: 10.1038/s41598-024-57459-3

PMCID:: PMC10965895

Abstract Article PDF–1004K

Select item 101082512.

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet

Clin Genet. 2023 Mar; 103(3): 346–351. Published online 2022 Dec 2. doi: 10.1111/cge.14264

PMCID:: PMC10108251

Abstract Article PDF–964K

Select item 100388263.

Pain research and children and adolescents with severe intellectual disability: ethical challenges and imperatives

Sarah Z. Raskoff, Audrey Thurm, Helga O. Miguel, Scott Y. H. Kim, Zenaide M. N. Quezado

Lancet Child Adolesc Health. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Lancet Child Adolesc Health. 2023 Apr; 7(4): 288–296. Published online 2022 Dec 20. doi: 10.1016/S2352-4642(22)00346-7

PMCID:: PMC10038826

Abstract Article PDF–345K

Select item 98307554.

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

Jianlong Zhuang, Meihua Xie, Jianfeng Yao, Wanyu Fu, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen

BMC Med Genomics. 2023; 16: 3. Published online 2023 Jan 9. doi: 10.1186/s12920-023-01433-x

PMCID:: PMC9830755

Abstract Article PDF–1.2M

Select item 95452745.

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3

Daniel Halperin, Nadav Agam, Maher Hallak, Miora Feinstein, Max Drabkin, Yuval Yogev, Ohad Wormser, Eitan Shavit, Libe Gradstein, Ilan Shelef, Aanalia Mijalovsky, Hagit Flusser, Ohad S. Birk

Clin Genet. 2022 Aug; 102(2): 123–129. Published online 2022 May 5. doi: 10.1111/cge.14143

PMCID:: PMC9545274

Abstract Article PDF–1.4M

Select item 94488936.

Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations

Sultan Cingoz, Didem Soydemir, Tülay Oncü Oner, Ezgi Karaca, Burcu Ozden, Semra Hız Kurul, Erhan Bayram, University of Washington Center for Mendelian Genomics, Bradley P. Coe, Deborah A. Nickerson, Evan E. Eichler

Eur J Med Genet. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Eur J Med Genet. 2022 Jun; 65(6): 104497. Published online 2022 Apr 14. doi: 10.1016/j.ejmg.2022.104497

PMCID:: PMC9448893

Abstract Article PDF–1.4M

Select item 92913237.

Joint attention and intelligence in children with autism spectrum disorder without severe intellectual disability

Masuhiko Sano, Yuko Yoshimura, Tetsu Hirosawa, Chiaki Hasegawa, Kyung‐min An, Sanae Tanaka, Nobushige Naitou, Mitsuru Kikuchi

Autism Res. 2021 Dec; 14(12): 2603–2612. Published online 2021 Aug 23. doi: 10.1002/aur.2600

PMCID:: PMC9291323

Abstract Article PDF–327K

Select item 92688948.

Biallelic loss of EMC10 leads to mild to severe intellectual disability

Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, Sughra Gulieva, Maha S. Zaki, Noa Z. Henig, Karine Siquier, Ulviyya Guliyeva, Samir M. Mounir, Daphna Marom, Aynur Allahverdiyeva, Hisham Megahed, Hans van Bokhoven, Vincent Cantagrel, Aboulfazl Rad, Alemeh Pourkeramti, Boshra Dehghani, Diane D. Shao, Keren Markus‐Bustani, Efrat Sofrin‐Drucker, Naama Orenstein, Kamran Salayev, Filippo Arrigoni, Henry Houlden, Reza Maroofian

Ann Clin Transl Neurol. 2022 Jul; 9(7): 1080–1089. Published online 2022 Jun 9. doi: 10.1002/acn3.51602

PMCID:: PMC9268894

Abstract Article PDF–3.5M

Select item 91434299.

A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression

Alyssa J. J. Paganoni, Federica Amoruso, Javier Porta Pelayo, Beatriz Calleja-Pérez, Valeria Vezzoli, Paolo Duminuco, Alessia Caramello, Roberto Oleari, Alberto Fernández-Jaén, Anna Cariboni

Int J Mol Sci. 2022 May; 23(10): 5632. Published online 2022 May 18. doi: 10.3390/ijms23105632

PMCID:: PMC9143429

Abstract Article PDF–1.6M

Select item 900962010.

Relation between acquisition of lexical concept and joint attention in children with autism spectrum disorder without severe intellectual disability

Masuhiko Sano, Tetsu Hirosawa, Mitsuru Kikuchi, Chiaki Hasegawa, Sanae Tanaka, Yuko Yoshimura

PLoS One. 2022; 17(4): e0266953. Published online 2022 Apr 14. doi: 10.1371/journal.pone.0266953

PMCID:: PMC9009620

Abstract Article PDF–550K

Select item 892296911.

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients

Jianbo Zhao, Guizhen Lyu, Changhong Ding, Xiaohui Wang, Jiuwei Li, Weihua Zhang, Xinying Yang, Victor Wei Zhang

Mol Genet Genomic Med. 2022 Mar; 10(3): e1825. Published online 2022 Feb 14. doi: 10.1002/mgg3.1825

PMCID:: PMC8922969

Abstract Article PDF–1.0M

Select item 882545512.

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans

Nicole J Van Bergen, Katrina M Bell, Kirsty Carey, Russell Gear, Sean Massey, Edward K Murrell, Lyndon Gallacher, Kate Pope, Paul J Lockhart, Andrew Kornberg, Lynn Pais, Marzena Walkiewicz, Cas Simons, MCRI Rare Diseases Flagship, Vihandha O Wickramasinghe, Susan M White, John Christodoulou

Hum Mol Genet. 2022 Feb 1; 31(3): 362–375. Published online 2021 Sep 7. doi: 10.1093/hmg/ddab248

PMCID:: PMC8825455

Abstract Article PDF–1.5M

Select item 872230613.

Postoperative dysphagia caused by a delay in mandibular fracture treatment in a patient with severe intellectual disability: a case report

Shinsuke Yamamoto, Masanori Nashi, Keigo Maeda, Naoki Taniike, Toshihiko Takenobu

J Med Case Rep. 2022; 16: 6. Published online 2022 Jan 3. doi: 10.1186/s13256-021-03116-6

PMCID:: PMC8722306

Abstract Article PDF–1.3M

Select item 864727114.

A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report

Tong Qiu, Qian Dai, Qiu Wang

J Int Med Res. 2021 Nov; 49(11): 03000605211058372. Published online 2021 Dec 1. doi: 10.1177/03000605211058372

PMCID:: PMC8647271

Abstract Article PDF–542K

Select item 845163615.

Case study: identification of anxiety and subsequent intervention in an adolescent male with autism, severe intellectual disability and self-injurious behaviour

Arvid Nikolai Kildahl, Trine Lise Bakken, Espen Arnfinn Winther Matre, Jane Margrethe Askeland Hellerud, Maria Hagen Engebretsen, Sissel Berge Helverschou

Int J Dev Disabil. 2021; 67(5): 327–338. Published online 2020 Dec 4. doi: 10.1080/20473869.2020.1850160

PMCID:: PMC8451636

Abstract Article PDF–496K

Select item 841186216.

Physical activity levels of children and adolescents with moderate‐to‐severe intellectual disability

Marieke Wouters, Heleen M. Evenhuis, Thessa I. M. Hilgenkamp

J Appl Res Intellect Disabil. 2019 Jan; 32(1): 131–142. Published online 2018 Jul 11. doi: 10.1111/jar.12515

PMCID:: PMC8411862

Abstract Article PDF–520K

Select item 790874417.

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle

Genome Med. 2021; 13: 34. Published online 2021 Feb 25. doi: 10.1186/s13073-021-00850-w

PMCID:: PMC7908744

Abstract Article PDF–2.8M

Select item 781329918.

Swallowed partial denture in severe intellectual disability patient

Ji-Hoon Kim

BMJ Case Rep. 2021; 14(1): e239945. Published online 2021 Jan 18. doi: 10.1136/bcr-2020-239945

PMCID:: PMC7813299

Abstract Article PDF–807K

Select item 780243319.

A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature

Ayberk Turkyilmaz, Gunes Sager

Mol Syndromol. 2020 Dec; 11(5-6): 315–319. Published online 2020 Oct 15. doi: 10.1159/000510994

PMCID:: PMC7802433

Abstract Article PDF–592K

Select item 775241820.

Enhanced learning to improve letter knowledge in children with Down syndrome and severe intellectual disability: A case report

Haruo Fujino, Yumeho Imatome

Clin Case Rep. 2020 Dec; 8(12): 2447–2451. Published online 2020 Jul 23. doi: 10.1002/ccr3.3176

PMCID:: PMC7752418

Abstract Article PDF–189K

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