PMC Articles for MedGen (Select 408188) - PMC

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Select item 111852701.

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy

Francesco Testa, Ester Carreño, L. Ingeborgh van den Born, Paolo Melillo, Irene Perea-Romero, Valentina Di Iorio, Giulia Risca, Clemente Maria Iodice, Ronald J. E. Pennings, Marianthi Karali, Sandro Banfi, Alberto Auricchio, Stefania Galimberti, Carmen Ayuso, Francesca Simonelli

Invest Ophthalmol Vis Sci. 2024 Jun; 65(6): 25. Published online 2024 Jun 17. doi: 10.1167/iovs.65.6.25

PMCID:: PMC11185270

Abstract Article PDF–1.6M

Select item 111792092.

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population

Yu-Wei Lin, Yu-Shu Huang, Chien-Yu Lin, Chao-Wen Lin, Chen-Chi Wu, Chang-Hao Yang, Chung-May Yang, Pei-Lung Chen, Ta-Ching Chen

Orphanet J Rare Dis. 2024; 19: 238. Published online 2024 Jun 15. doi: 10.1186/s13023-024-03238-2

PMCID:: PMC11179209

Abstract Article PDF–2.0M

Select item 111562063.

Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

Bela Parekh, Jacque L. Duncan, Lassana Samarakoon, Michele Melia, Maria Fernanda Abalem, Chris A. Andrews, Isabelle Audo, Allison R. Ayala, Chris Bradley, Janet K. Cheetham, Gislin Dagnelie, Todd A. Durham, Rachel M. Huckfeldt, Gabrielle D. Lacy, Brett Malbin, Michel Michaelides, David C. Musch, Nicholas Peck-Dimit, Katarina Stingl, Christina Y. Weng, Alex Z. Zmejkoski, K. Thiran Jayasundera, for the Foundation Fighting Blindness Clinical Consortium Investigator Group

Invest Ophthalmol Vis Sci. 2024 Jun; 65(6): 5. Published online 2024 Jun 4. doi: 10.1167/iovs.65.6.5

PMCID:: PMC11156206

Abstract Article PDF–929K

Select item 111396464.

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome

Malena Daich Varela, Shiao Wei Wong, Gulunay Kiray, Patricio G. Schlottmann, Gavin Arno, Amjaad N. Abu Shams, Omar A. Mahroo, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides

Am J Ophthalmol. 2023 Dec; 256: 186–195. doi: 10.1016/j.ajo.2023.06.026

PMCID:: PMC11139646

Abstract Article PDF–1.4M

Select item 111206705.

CHD7 Disorder—Not CHARGE Syndrome—Presenting as Isolated Cochleovestibular Dysfunction

Jef Driesen, Helen Van Hoecke, Leen Maes, Sandra Janssens, Frederic Acke, Els De Leenheer

Genes (Basel) 2024 May; 15(5): 643. Published online 2024 May 19. doi: 10.3390/genes15050643

PMCID:: PMC11120670

Abstract Article PDF–3.1M

Select item 111161546.

儿童轻中度感音神经性听力损失的遗传特征分析

周睿, 关静, 王秋菊

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 18–22. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.003

PMCID:: PMC11116154

Abstract Article PDF–683K

Select item 111146647.

Immunological aspects of 22q11.2 deletion syndrome

A. R. Gennery

Cell Mol Life Sci. 2012 Jan; 69(1): 17–27. Published online 2011 Oct 9. doi: 10.1007/s00018-011-0842-z

PMCID:: PMC11114664

Abstract Article PDF–297K

Select item 111137648.

The role of genetics in the establishment and maintenance of the epigenome

Covadonga Huidobro, Agustin F. Fernandez, Mario F. Fraga

Cell Mol Life Sci. 2013 May; 70(9): 1543–1573. Published online 2013 Mar 10. doi: 10.1007/s00018-013-1296-2

PMCID:: PMC11113764

Abstract Article PDF–1.6M

Select item 111061489.

Genetic profile of syndromic retinitis pigmentosa in Portugal

Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Marta, Lilianne Duarte, Vitor Miranda, José Costa, Ana Berta Sousa, Virginie G. Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques

Graefes Arch Clin Exp Ophthalmol. 2024; 262(6): 1883–1897. Published online 2024 Jan 8. doi: 10.1007/s00417-023-06360-2

PMCID:: PMC11106148

Abstract Article PDF–1.5M

Select item 1105012710.

Syndromic Retinitis Pigmentosa: A 15-Patient Study

Ianne Pessoa Holanda, Priscila Hae Hyun Rim, Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner

Genes (Basel) 2024 Apr; 15(4): 516. Published online 2024 Apr 20. doi: 10.3390/genes15040516

PMCID:: PMC11050127

Abstract Article PDF–1.3M

Select item 1100399911.

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B

Kizuki Watanabe, Shin-ya Nishio, Shin-ichi Usami, the Deafness Gene Study Consortium

Sci Rep. 2024; 14: 8326. Published online 2024 Apr 9. doi: 10.1038/s41598-024-57415-1

PMCID:: PMC11003999

Abstract Article PDF–1.1M

Select item 1098434612.

Expression of two major isoforms of MYO7A in the retina: considerations for gene therapy of Usher syndrome type 1B

W. Blake Gilmore, Nan W. Hultgren, Abhishek Chadha, Sonia B. Barocio, Joyce Zhang, Oksana Kutsyr, Miguel Flores-Bellver, M. Valeria Canto-Soler, David S. Williams

Vision Res. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Vision Res. 2023 Nov; 212: 108311. Published online 2023 Aug 15. doi: 10.1016/j.visres.2023.108311

PMCID:: PMC10984346

Abstract Article PDF–624K

Select item 1096739413.

Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model

Ghizlene Lahlou, Charlotte Calvet, François Simon, Vincent Michel, Lauranne Alciato, Baptiste Plion, Jacques Boutet de Monvel, Marie-José Lecomte, Mathieu Beraneck, Christine Petit, Saaid Safieddine

JCI Insight. 2024 Feb 8; 9(3): e169504. Published online 2024 Feb 8. doi: 10.1172/jci.insight.169504

PMCID:: PMC10967394

Abstract Article PDF–3.0M

Select item 1095618514.

Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis

L. Johansen, F. O’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelentsov, L. S. Kearns, K. L. Galvin

Orphanet J Rare Dis. 2024; 19: 129. Published online 2024 Mar 21. doi: 10.1186/s13023-024-03125-w

Correction in:: Orphanet J Rare Dis. 2024; 19: 163.

PMCID:: PMC10956185

Abstract Article PDF–1.4M

Select item 1093852915.

Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report

Takahide Kokumai, Shigeru Suzuki, Noriko Nishikawa, Hinako Yamamura, Tokuo Mukai, Yusuke Tanahashi, Satoru Takahashi

J Clin Res Pediatr Endocrinol. 2024 Mar; 16(1): 102–105. Published online 2024 Mar 11. doi: 10.4274/jcrpe.galenos.2022.2022-4-11

PMCID:: PMC10938529

Abstract Article PDF–828K

Select item 1092388916.

ISR inhibition reverses pancreatic β-cell failure in Wolfram syndrome models

Rui Hu, Xiangyi Chen, Qiang Su, Zhaoyue Wang, Xushu Wang, Mengting Gong, Minglu Xu, Rongrong Le, Yawei Gao, Peng Dai, Zhen-Ning Zhang, Li Shao, Weida Li

Cell Death Differ. 2024 Mar; 31(3): 322–334. Published online 2024 Feb 6. doi: 10.1038/s41418-024-01258-w

PMCID:: PMC10923889

Abstract Article PDF–5.6M

Select item 1088163917.

Screening copy number variations in 35 unsolved inherited retinal disease families

Xiaozhen Liu, Hehua Dai, Genlin Li, Ruixuan Jia, Xiang Meng, Shicheng Yu, Liping Yang, Jing Hong

Hum Genet. 2024; 143(2): 197–210. Published online 2024 Jan 29. doi: 10.1007/s00439-023-02631-4

PMCID:: PMC10881639

Abstract Article PDF–9.3M

Select item 1086700718.

Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2

Ana Margarida Amorim, Ana Beatriz Ramada, Ana Cristina Lopes, Eduardo Duarte Silva, João Lemos, João Carlos Ribeiro

Sci Rep. 2024; 14: 3701. Published online 2024 Feb 14. doi: 10.1038/s41598-024-54270-y

PMCID:: PMC10867007

Abstract Article PDF–1.1M

Select item 1086032819.

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico

Rocio A. Villafuerte-de la Cruz, Lucas A. Garza-Garza, Manuel Garza-Leon, Cesar Rodriguez-De la Torre, Cinthya Parra-Bernal, Ilse Vazquez-Camas, David Ramos-Gonzalez, Andrea Rangel-Padilla, Angelina Espino Barros-Palau, Jose Nava-García, Javier Castillo-Velazquez, Erick Castillo-De Leon, Agustin Del Valle-Penella, Jorge E. Valdez-Garcia, Augusto Rojas-Martinez

BMC Ophthalmol. 2024; 24: 60. Published online 2024 Feb 12. doi: 10.1186/s12886-023-03276-7

PMCID:: PMC10860328

Abstract Article PDF–1.1M

Select item 1081591320.

KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans

Allison J. Kalinousky, Teresa R. Luperchio, Katrina M. Schrode, Jacqueline R. Harris, Li Zhang, Valerie B. DeLeon, Jill A. Fahrner, Amanda M. Lauer, Hans T. Bjornsson

Genes (Basel) 2024 Jan; 15(1): 48. Published online 2023 Dec 28. doi: 10.3390/genes15010048

PMCID:: PMC10815913

Abstract Article PDF–1.9M

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 500

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity