PMC Articles for MedGen (Select 338532) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Select item 117154141.

Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay

Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu, Fengchang Qiao, Cuiping Zhang, Lulu Meng, Yan Wang, Zhengfeng Xu, Ping Hu

BMC Pediatr. 2025; 25: 18. Published online 2025 Jan 9. doi: 10.1186/s12887-024-05267-z

PMCID:: PMC11715414

Article PDF–1.9M

Select item 116678352.

Genetic analysis of partial duplication of the long arm of chromosome 16

Dan Tang, Ai Chen, Jing Xu, Yu Huang, Jun Fan, Jin Wang, Hui Zhu, Guanghuan Pi, Li Yang, Fu Xiong, Zemin Luo, Gen Li, Lan Zeng, Shuyao Zhu

BMC Med Genomics. 2024; 17: 294. Published online 2024 Dec 23. doi: 10.1186/s12920-024-02059-3

PMCID:: PMC11667835

Article PDF–2.3M

Select item 116572433.

Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome

Rong Ren, Yedan Liu, Peipei Liu, Jing Zhao, Mei Hou, Shuo Li, Zongbo Chen, Aiyun Yuan

BMC Med Genomics. 2024; 17: 290. Published online 2024 Dec 18. doi: 10.1186/s12920-024-02065-5

PMCID:: PMC11657243

Article PDF–1.7M

Select item 116415254.

Navigating Sensitive Conversations: Patient-Centered Communication and Politeness Markers in Chinese Online Medical Consultations

Yidi Wang, Xiaoya Yang, Jiaying Liu

Healthcare (Basel) 2024 Dec; 12(23): 2465. Published online 2024 Dec 6. doi: 10.3390/healthcare12232465

PMCID:: PMC11641525

Article PDF–1.1M

Select item 116191425.

Ocular findings in Baraitser–Winter syndrome with a de novo mutation in the ACTG1 gene: a case report

Jae Won Kim, Sook-Young Kim, Donghun Lee

BMC Ophthalmol. 2024; 24: 524. Published online 2024 Dec 5. doi: 10.1186/s12886-024-03791-1

PMCID:: PMC11619142

Article PDF–1.1M

Select item 116088456.

Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome

Yu Yamaguchi, Hironobu Okuno, Suzumi Tokuoka, Yoshihiro Kita, Tsukasa Sanosaka, Jun Kohyama, Kenji Kurosawa, Norio Sakai, Fuyuki Miya, Takao Takahashi, Kenjiro Kosaki, Hideyuki Okano

Congenit Anom (Kyoto) 2025 Jan-Dec; 65(1): e12587. Published online 2024 Dec 1. doi: 10.1111/cga.12587

PMCID:: PMC11608845

Article PDF–12M

Select item 115814267.

Sequential replacement of PSD95 subunits in postsynaptic supercomplexes is slowest in the cortex

Katie Morris, Edita Bulovaite, Takeshi Kaizuka, Sebastian Schnorrenberg, Candace T Adams, Noboru Komiyama, Lorena Mendive-Tapia, Seth GN Grant, Mathew H Horrocks

eLife. 2024; 13: RP99303. Published online 2024 Nov 21. doi: 10.7554/eLife.99303

PMCID:: PMC11581426

Article PDF–2.0M

Select item 115524998.

An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome

Eleonora Maino, Ori Scott, Samar Z. Rizvi, Wing Suen Chan, Shagana Visuvanathan, Youssif Ben Zablah, Hongbin Li, Ameet S. Sengar, Michael W. Salter, Zhengping Jia, Janet Rossant, Ronald D. Cohn, Bin Gu, Evgueni A. Ivakine

Dis Model Mech. 2024 Jul 1; 17(7): dmm050528. Published online 2024 Jul 23. doi: 10.1242/dmm.050528

PMCID:: PMC11552499

Article

Select item 115412009.

Adenosine mediates the amelioration of social novelty deficits during rhythmic light treatment of 16p11.2 deletion female mice

Jun Ju, Xuanyi Li, Yifan Pan, Jun Du, Xinyi Yang, Siqi Men, Bo Liu, Zhenyu Zhang, Haolin Zhong, Jinyuan Mai, Yizheng Wang, Sheng-Tao Hou

Mol Psychiatry. 2024; 29(11): 3381–3394. Published online 2024 May 13. doi: 10.1038/s41380-024-02596-4

PMCID:: PMC11541200

Article PDF–4.5M

Select item 1150560510.

Epigenetic changes in patients with post-acute COVID-19 symptoms (PACS) and long-COVID: A systematic review

Madhura Shekhar Patil, Emma Richter, Lara Fanning, Jolien Hendrix, Arne Wyns, Laura Barrero Santiago, Jo Nijs, Lode Godderis, Andrea Polli

Expert Rev Mol Med. 2024; 26: e29. Published online 2024 Oct 22. doi: 10.1017/erm.2024.32

PMCID:: PMC11505605

Article PDF–372K

Select item 1146909411.

Dos nuevos casos de discapacidad intelectual ligada al cromosoma X tipo 105 por variante patógena en el gen USP27X no descrita previamente

Carmen María Dolores-Sánchez, Daniel Doval-Calvo, M. Juliana Ballesta-Martínez, M. José Sánchez-Soler

Rev Neurol. 2024; 79(3): 95–97. Spanish. Published online 2024 Aug 1. doi: 10.33588/rn.7903.2024097

PMCID:: PMC11469094

Article PDF–589K

Select item 1144698812.

Natural history of non-polyglutamine CACNA1A disease in Austria

Elisabetta Indelicato, Wolfgang Nachbauer, Matthias S. Amprosi, Sarah Maier, Iris Unterberger, Margarete Delazer, Katharina Kaltseis, Stefan Kiechl, Gregor Broessner, Matthias Baumann, Sylvia Boesch

J Neurol. 2024; 271(10): 6618–6627. Published online 2024 Aug 7. doi: 10.1007/s00415-024-12602-y

PMCID:: PMC11446988

Article PDF–1.0M

Select item 1143779513.

A long way to syndromic short stature

Federica Gaudioso, Camilla Meossi, Lidia Pezzani, Federico Grilli, Rosamaria Silipigni, Silvia Russo, Maura Masciadri, Alessandro Vimercati, Paola Giovanna Marchisio, Maria Francesca Bedeschi, Donatella Milani

Ital J Pediatr. 2024; 50: 192. Published online 2024 Sep 27. doi: 10.1186/s13052-024-01737-3

PMCID:: PMC11437795

Article PDF–2.1M

Select item 1139558314.

A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly

Miryam Rosa Stella Foti, Maria Giovanna Tedesco, Davide Colavito, Daniela Rogaia, Amedea Mencarelli, Monica Schippa, Cristina Gradassi, Rita Romani, Carmela Ardisia, Paolo Prontera

Int J Mol Sci. 2024 Sep; 25(17): 9676. Published online 2024 Sep 6. doi: 10.3390/ijms25179676

PMCID:: PMC11395583

Article PDF–6.4M

Select item 1137165015.

CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility

Patricia Nora Awad, Valerio Zerbi, Erin M. Johnson-Venkatesh, Francesca Damiani, Marco Pagani, Marija Markicevic, Sarah Nickles, Alessandro Gozzi, Hisashi Umemori, Michela Fagiolini

Mol Psychiatry. 2024; 29(6): 1698–1709. Published online 2023 Feb 3. doi: 10.1038/s41380-023-01962-y

PMCID:: PMC11371650

Article PDF–2.5M

Select item 1132268516.

Online Medical Consultation Service–Oriented Recommendations: Systematic Review

Hongxun Jiang, Ziyue Mi, Wei Xu

J Med Internet Res. 2024; 26: e46073. Published online 2024 Jul 30. doi: 10.2196/46073

PMCID:: PMC11322685

Article

Select item 1127970017.

Neurodevelopment Is Dependent on Maternal Diet: Placenta and Brain Glucose Transporters GLUT1 and GLUT3

Tomoko Daida, Bo-Chul Shin, Carlos Cepeda, Sherin U. Devaskar

Nutrients. 2024 Jul; 16(14): 2363. Published online 2024 Jul 21. doi: 10.3390/nu16142363

PMCID:: PMC11279700

Article PDF–869K

Select item 1127051018.

Cell- and Pathway-Specific Disruptions in the Accumbens of Fragile X Mouse

Gabriele Giua, Jessica Pereira-Silva, Alba Caceres-Rodriguez, Olivier Lassalle, Pascale Chavis, Olivier J. Manzoni

J Neurosci. 2024 Jul 24; 44(30): e1587232024. Prepublished online 2024 Jun 3. doi: 10.1523/JNEUROSCI.1587-23.2024

PMCID:: PMC11270510

Article PDF–2.8M

Select item 1126508219.

Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication

Fagui Yue, Mengzhe Hao, Dandan Jiang, Ruizhi Liu, Hongguo Zhang

BMC Pregnancy Childbirth. 2024; 24: 494. Published online 2024 Jul 22. doi: 10.1186/s12884-024-06702-w

PMCID:: PMC11265082

Article PDF–2.3M

Select item 1123920020.

PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders

Lenises de Paula van der Steld, Mario de Seixas Rocha, Ana Marice Teixeira Ladeia, Humberto Lago Livramento, Gervásio Batista Campos, Francisco Carlos da Costa Darrieux, Oscar Campuzano, Ramon Brugada

Einstein (Sao Paulo) 2024; 22: eAO0549. Published online 2024 Jul 10. doi: 10.31744/einstein_journal/2024AO0549