PMC Articles for MedGen (Select 1842008) - PMC

Maria Giulia Tullo, Emanuele Cerulli Irelli, Francesca Caramia, Gianmarco Tessari, Carlo Di Bonaventura, Rosaria Turchetta, Anna Teresa Giallonardo, Giovanna Palumbo, Simona Bianchi, Francesca Atturo, Marcella Nebbioso, Patrizia Mancini, Cecilia Guariglia, Fiorina Giona

Int J Mol Sci. 2023 May; 24(10): 8844. Published online 2023 May 16. doi: 10.3390/ijms24108844

PMCID:: PMC10218502

Article PDF–639K

Select item 101282614.

Waardenburg综合征患儿人工耳蜗植入术后听觉与言语康复效果评价

李果, 刘莉, 杨婷, 郎春梅, 马秀丽, 赵丽萍, 唐贤超, 王翔, 张铁松, 马静

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 May 3; 36(5): 347–352. Chinese. doi: 10.13201/j.issn.2096-7993.2022.05.005

PMCID:: PMC10128261

Article PDF–798K

Select item 97239235.

Dysarthria in hereditary spastic paraplegia type 4

Lais Alves Jacinto-Scudeiro, Rui Rothe-Neves, Vanessa Brzoskowski dos Santos, Gustavo Dariva Machado, Daniela Burguêz, Marina Martins Pereira Padovani, Annelise Ayres, Rafaela Soares Rech, Carelis González-Salazar, Marcondes Cavalcante França Junior, Jonas Alex Morales Saute, Maira Rozenfeld Olchik

Clinics (Sao Paulo) 2023 Jan-Dec; 78: 100128. Published online 2022 Dec 5. doi: 10.1016/j.clinsp.2022.100128

PMCID:: PMC9723923

Article PDF–350K

Select item 90690736.

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Martin Broly, Bogdan V. Polevoda, Kamel M. Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, Wallid Deb, Declan O’Rourke, Julia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan Shamseldin, Saeed Al-Tala, Fowzan S. Alkuraya, Alberta Leon, Rosa L.E. van Loon, Alessandra Ferlini, Mariabeatrice Sanchini, Stefania Bigoni, Andrea Ciorba, Hans van Bokhoven, Zafar Iqbal, Almundher Al-Maawali, Fathiya Al-Murshedi, Anuradha Ganesh, Watfa Al-Mamari, Sze Chern Lim, Lynn S. Pais, Natasha Brown, Saima Riazuddin, Stéphane Bézieau, Dragony Fu, Bertrand Isidor, Benjamin Cogné, Mitchell R. O’Connell

Am J Hum Genet. 2022 Apr 7; 109(4): 587–600. Published online 2022 Feb 22. doi: 10.1016/j.ajhg.2022.02.001

PMCID:: PMC9069073

Article PDF–1.5M

Select item 90676537.

Vocal changes in a zebra finch model of Parkinson’s disease characterized by alpha-synuclein overexpression in the song-dedicated anterior forebrain pathway

Cesar A. Medina, Eddie Vargas, Stephanie J. Munger, Julie E. Miller

PLoS One. 2022; 17(5): e0265604. Published online 2022 May 4. doi: 10.1371/journal.pone.0265604

PMCID:: PMC9067653

Article PDF–8.5M

Select item 83882468.

Genotypic Differences in Networks Supporting Regional Predictors of Speech Rate in Spinocerebellar Ataxia: Preliminary Observations

John J. Sidtis, Christopher M. Gomez

Brain Connect. August 2021; 11(6): 408–417. Published online 2021 Aug 10. doi: 10.1089/brain.2020.0972

PMCID:: PMC8388246

Article PDF–380K

Select item 79282099.

Word Retrieval Difficulty in Adult Females with the FMR1 Premutation: Changes Over Time and Across Contexts

Shelley L. Bredin-Oja, Steven F. Warren, Rebecca E. Swinburne Romine, Kandace K. Fleming, Nancy Brady, Elizbeth Berry-Kravis

Brain Cogn. Author manuscript; available in PMC 2022 Mar 1.

Published in final edited form as: Brain Cogn. 2021 Mar; 148: 105694. Published online 2021 Jan 24. doi: 10.1016/j.bandc.2021.105694

PMCID:: PMC7928209

Article PDF–648K

Select item 741363910.

Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies

Talia Thompson, Susan Howell, Shanlee Davis, Rebecca Wilson, Jennifer Janusz, Richard Boada, Laura Pyle, Nicole Tartaglia

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2021 Jun 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2020 Jun; 184(2): 414–427. Published online 2020 May 25. doi: 10.1002/ajmg.c.31785

PMCID:: PMC7413639

Article PDF–800K

Select item 691655311.

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

Karen G. C. B. Bindels‐de Heus, Sabine E. Mous, Maartje ten Hooven‐Radstaake, Bianca M. van Iperen‐Kolk, Cindy Navis, André B. Rietman, Leontine W. ten Hoopen, Alice S. Brooks, ENCORE Expertise Center for AS, Ype Elgersma, Henriëtte A. Moll, Marie‐Claire Y. de Wit

Am J Med Genet A. 2020 Jan; 182(1): 53–63. Published online 2019 Nov 15. doi: 10.1002/ajmg.a.61382

PMCID:: PMC6916553

Article PDF–1.7M

Select item 663153812.

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang, Xiaowei Chen

Orphanet J Rare Dis. 2019; 14: 178. Published online 2019 Jul 15. doi: 10.1186/s13023-019-1136-z

PMCID:: PMC6631538

Article PDF–1.1M

Select item 651488013.

Differential effects of Foxp2 disruption in distinct motor circuits

Catherine A. French, María F. Vinueza Veloz, Kuikui Zhou, Saša Peter, Simon E. Fisher, Rui M. Costa, Chris I. De Zeeuw

Mol Psychiatry. 2019; 24(3): 447–462. Published online 2018 Aug 14. doi: 10.1038/s41380-018-0199-x

PMCID:: PMC6514880

Article PDF–3.5M

Select item 639753214.

Structural, functional, and behavioral insights of dopamine dysfunction revealed by a deletion in SLC6A3

Nicholas G. Campbell, Aparna Shekar, Jenny I. Aguilar, Dungeng Peng, Vikas Navratna, Dongxue Yang, Alexander N. Morley, Amanda M. Duran, Greta Galli, Brian O’Grady, Ramnarayan Ramachandran, James S. Sutcliffe, Harald H. Sitte, Kevin Erreger, Jens Meiler, Thomas Stockner, Leon M. Bellan, Heinrich J. G. Matthies, Eric Gouaux, Hassane S. Mchaourab, Aurelio Galli

Proc Natl Acad Sci U S A. 2019 Feb 26; 116(9): 3853–3862. Published online 2019 Feb 12. doi: 10.1073/pnas.1816247116

PMCID:: PMC6397532

Article PDF–1.4M

Select item 634802915.

Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic

Andrew P. Groves, Katie Gettinger, Todd E. Druley, Beth Kozel, Marwan Shinawi, Caroline Mohrmann, Jennifer Henry, Celina Jacobi, Kathryn Trinkaus, Robert J. Hayashi

J Pediatr Hematol Oncol. Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: J Pediatr Hematol Oncol. 2019 Mar; 41(2): 133–136. doi: 10.1097/MPH.0000000000001251

PMCID:: PMC6348029

Article PDF–307K

Select item 625161116.

Developmental Defects Associated With DNA Copy Number Gain of Chromosome 2q33.1: A Case Report and Review of Literature

Akshaya Gupta, Jacob Yo, Gengming Huang, Lynn Soong, Jianli Dong

Lab Med. 2018 Mar; 49(2): 160–164. Published online 2017 Dec 29. doi: 10.1093/labmed/lmx086

PMCID:: PMC6251611

Article PDF–268K

Select item 602686117.

Development of White Matter Circuitry in Infants With Fragile X Syndrome

Meghan R. Swanson, Jason J. Wolff, Mark D. Shen, Martin Styner, Annette Estes, Guido Gerig, Robert C. McKinstry, Kelly N. Botteron, Joseph Piven, Heather C. Hazlett

JAMA Psychiatry. 2018 May; 75(5): 505–513. Published online 2018 Apr 4. doi: 10.1001/jamapsychiatry.2018.0180

PMCID:: PMC6026861

Article

Select item 601871218.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

Laura Mary, Amélie Piton, Elise Schaefer, Francesca Mattioli, Elsa Nourisson, Claire Feger, Claire Redin, Magali Barth, Salima El Chehadeh, Estelle Colin, Christine Coubes, Laurence Faivre, Elisabeth Flori, David Geneviève, Yline Capri, Laurence Perrin, Jennifer Fabre-Teste, Dana Timbolschi, Alain Verloes, Robert Olaso, Anne Boland, Jean-François Deleuze, Jean-Louis Mandel, Bénédicte Gerard, Irina Giurgea

Eur J Hum Genet. 2018 Jul; 26(7): 996–1006. Published online 2018 Apr 26. doi: 10.1038/s41431-018-0096-4

PMCID:: PMC6018712

Article PDF–941K

Select item 545959719.

A 15-item checklist for screening mentally retarded males for the fragile X syndrome

Merlin G. Butler, Tim Mangrum, Rishi Gupta, Dharmdeo N. Singh

Clin Genet. Author manuscript; available in PMC 2017 Jun 5.

Published in final edited form as: Clin Genet. 1991 May; 39(5): 347–354. doi: 10.1111/j.1399-0004.1991.tb03041.x

PMCID:: PMC5459597

Article PDF–619K

Select item 503562720.

Acute Exposure to Vibration is an Apoptosis-Inducing Stimulus in the Vocal Fold Epithelium

Carolyn K. Novaleski, Emily E. Kimball, Masanobu Mizuta, Bernard Rousseau

Tissue Cell. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Tissue Cell. 2016 Oct; 48(5): 407–416. Published online 2016 Aug 24. doi: 10.1016/j.tice.2016.08.007

PMCID:: PMC5035627

Article PDF–1016K

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