PMC Articles for MedGen (Select 862872) - PMC

Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, Rikke Steensbjerre Møller

eBioMedicine. 2024 Aug; 106: 105236. Published online 2024 Jul 11. doi: 10.1016/j.ebiom.2024.105236

PMCID:: PMC11296288

Abstract Article PDF–2.6M

Select item 107635374.

Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies

Yunshu Song, Christopher H Seward, Chih-Ying Chen, Amber LeBlanc, Analise M Leddy, Lisa Stubbs

Genetics. 2024 Jan; 226(1): iyad182. Published online 2023 Oct 10. doi: 10.1093/genetics/iyad182

PMCID:: PMC10763537

Abstract Article PDF–2.5M

Select item 106907025.

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. van Kempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle de Jong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp

Epilepsia Open. 2023 Dec; 8(4): 1300–1313. Published online 2023 Aug 18. doi: 10.1002/epi4.12799

PMCID:: PMC10690702

Abstract Article PDF–487K

Select item 106712216.

Galnt17 loss-of-function leads to developmental delay and abnormal coordination, activity, and social interactions with cerebellar vermis pathology

Chih-Ying Chen, Christopher H Seward, Yunshu Song, Manasi Inamdar, Analise M. Leddy, Huimin Zhang, Jennifer Yoo, Wei-Chun Kao, Hanna Pawlowski, Lisa J Stubbs

Dev Biol. Author manuscript; available in PMC 2023 Nov 24.

Published in final edited form as: Dev Biol. 2022 Oct; 490: 155–171. Published online 2022 Aug 21. doi: 10.1016/j.ydbio.2022.08.002

PMCID:: PMC10671221

Abstract Article PDF–2.8M

Select item 105273307.

Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases

Rose Guo, Alyssa Rippert, Edward B Cook, Cesar Augusto P Alves, Lynne M Bird, Kosuke Izumi

Am J Med Genet A. Author manuscript; available in PMC 2024 Oct 1.

Published in final edited form as: Am J Med Genet A. 2023 Oct; 191(10): 2602–2609. Published online 2023 May 9. doi: 10.1002/ajmg.a.63230

PMCID:: PMC10527330

Abstract Article PDF–520K

Select item 104388828.

Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome

Heidi Schigt, Martin Bald, Bram C J van der Eerden, Lars Gal, Barnabas P Ilenwabor, Martin Konrad, Michael A Levine, Dong Li, Christoph J Mache, Sharon Mackin, Colin Perry, Francisco J Rios, Karl Peter Schlingmann, Ben Storey, Christine M Trapp, Annemieke J M H Verkerk, M Carola Zillikens, Rhian M Touyz, Ewout J Hoorn, Joost G J Hoenderop, Jeroen H F de Baaij

J Clin Endocrinol Metab. 2023 Sep; 108(9): e754–e768. Published online 2023 Mar 14. doi: 10.1210/clinem/dgad147

Correction in:: J Clin Endocrinol Metab. 2023 Jul; 108(7): e501.

PMCID:: PMC10438882

Abstract Article

Select item 103697599.

Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review

Amy Mann, Arameh Aghababaie, Jennifer Kalitsi, Daniel Martins, Yannis Paloyelis, Ritika R. Kapoor

Mol Autism. 2023; 14: 26. Published online 2023 Jul 25. doi: 10.1186/s13229-023-00559-0

PMCID:: PMC10369759

Abstract Article PDF–1.1M

Select item 1034504910.

Defensive and offensive behaviours in a Kleefstra syndrome mouse model

Alejandra Alonso, Anumita Samanta, Jacqueline van der Meij, Liz van den Brand, Moritz Negwer, Irene Navarro Lobato, Lisa Genzel

Anim Cogn. 2023; 26(4): 1131–1140. Published online 2023 Mar 6. doi: 10.1007/s10071-023-01757-2

PMCID:: PMC10345049

Abstract Article PDF–803K

Select item 1029842311.

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review

Michal Hutny, Patryk Lipinski, Aleksandra Jezela-Stanek

Genes (Basel) 2023 Jun; 14(6): 1208. Published online 2023 May 31. doi: 10.3390/genes14061208

PMCID:: PMC10298423

Abstract Article PDF–401K

Select item 1003425712.

Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?

Jacqueline R. Harris, Christine W. Gao, Jacquelyn F. Britton, Carolyn D. Applegate, Hans T. Bjornsson, Jill A. Fahrner

Hum Genet. 2023 Mar 23 : 1–18. doi: 10.1007/s00439-023-02537-1 [Epub ahead of print]

PMCID:: PMC10034257

Abstract Article PDF–2.0M

Select item 993108513.

Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene

Carmen Barba, Ingmar Blumcke, Melodie R. Winawer, Till Hartlieb, Hoon-Chul Kang, Laura Grisotto, Mathilde Chipaux, Christian G. Bien, Barbora Heřmanovská, Brenda E. Porter, Hart G.W. Lidov, Valentina Cetica, Friedrich G. Woermann, Javier A. Lopez-Rivera, Peter D. Canoll, Irina Mader, Ludovico D'Incerti, Sara Baldassari, Edward Yang, Ahmed Gaballa, Hannes Vogel, Barbora Straka, Letizia Macconi, Tilman Polster, Gerald A. Grant, Lenka Krsková, Hui Jin Shin, Ara Ko, Peter B. Crino, Pavel Krsek, Jeong Ho Lee, Dennis Lal, Stéphanie Baulac, Annapurna Poduri, Renzo Guerrini, on behalf of the SLC35A2 Study Group

Neurology. 2023 Jan 31; 100(5): e528–e542. doi: 10.1212/WNL.0000000000201471

PMCID:: PMC9931085

Abstract Article PDF–942K

Select item 982567314.

Cerebral organoids containing an AUTS2 missense variant model microcephaly

Summer R Fair, Wesley Schwind, Dominic L Julian, Alecia Biel, Gongbo Guo, Ryan Rutherford, Swetha Ramadesikan, Jesse Westfall, Katherine E Miller, Meisam Naeimi Kararoudi, Scott E Hickey, Theresa Mihalic Mosher, Kim L McBride, Reid Neinast, James Fitch, Dean A Lee, Peter White, Richard K Wilson, Tracy A Bedrosian, Daniel C Koboldt, Mark E Hester

Brain. 2023 Jan; 146(1): 387–404. Published online 2022 Jul 8. doi: 10.1093/brain/awac244

PMCID:: PMC9825673

Abstract Article PDF–1.9M

Select item 933930815.

FMRP-dependent production of large dosage-sensitive proteins is highly conserved

Keegan Flanagan, Alireza Baradaran-Heravi, Qi Yin, Khanh Dao Duc, Allan C Spradling, Ethan J Greenblatt

Genetics. 2022 Aug; 221(4): iyac094. Published online 2022 Jun 22. doi: 10.1093/genetics/iyac094

PMCID:: PMC9339308

Abstract Article PDF–1.4M

Select item 930826616.

Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome

Lu Zhang, Xiaoliang Liu, Yunjing Zhao, Qingyi Wang, Yuanyuan Zhang, Haiming Gao, Bijun Zhang, Wanting Cui, Yanyan Zhao

Ital J Pediatr. 2022; 48: 121. Published online 2022 Jul 23. doi: 10.1186/s13052-022-01319-1

PMCID:: PMC9308266

Abstract Article PDF–5.5M

Select item 902844117.

In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology

Muhammad Muzammal, Alessandro Di Cerbo, Eman M. Almusalami, Arshad Farid, Muzammil Ahmad Khan, Shakira Ghazanfar, Mohammed Al Mohaini, Abdulkhaliq J. Alsalman, Yousef N. Alhashem, Maitham A. Al Hawaj, Abdulmonem A. Alsaleh

Genes (Basel) 2022 Apr; 13(4): 698. Published online 2022 Apr 15. doi: 10.3390/genes13040698

PMCID:: PMC9028441

Abstract Article PDF–2.9M

Select item 900832518.

AUTS2 Syndrome: Molecular Mechanisms and Model Systems

Alecia Biel, Anthony S. Castanza, Ryan Rutherford, Summer R. Fair, Lincoln Chifamba, Jason C. Wester, Mark E. Hester, Robert F. Hevner

Front Mol Neurosci. 2022; 15: 858582. Published online 2022 Mar 31. doi: 10.3389/fnmol.2022.858582

PMCID:: PMC9008325

Abstract Article PDF–2.8M

Select item 896245419.

Oxytocin ameliorates impaired social behavior in a mouse model of 3q29 deletion syndrome

Tomoya Takemoto, Masayuki Baba, Kazumasa Yokoyama, Kohei Kitagawa, Kazuki Nagayasu, Yukio Ago, Kaoru Seiriki, Atsuko Hayata-Takano, Atsushi Kasai, Daisuke Mori, Norio Ozaki, Kazuhiro Takuma, Ryota Hashimoto, Hitoshi Hashimoto, Takanobu Nakazawa

Mol Brain. 2022; 15: 26. Published online 2022 Mar 28. doi: 10.1186/s13041-022-00915-w

Correction in:: Mol Brain. 2022; 15: 34.

PMCID:: PMC8962454

Abstract Article PDF–2.5M

Select item 887300520.

IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission

Boris Brant, Tchelet Stern, Huda Adwan Shekhidem, Liron Mizrahi, Idan Rosh, Yam Stern, Polina Ofer, Ayat Asleh, George K. Essien Umanah, Reem Jada, Nina S. Levy, Andrew P. Levy, Shani Stern

Mol Psychiatry. 2021; 26(12): 7498–7508. Published online 2021 Sep 17. doi: 10.1038/s41380-021-01281-0

PMCID:: PMC8873005

Abstract Article PDF–4.0M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 92

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity