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Items: 1 to 20 of 209

1.
Persistent Stapedial Artery, Oval Window Atresia and Congenital Stapes Agenesis—Case Report
Dan Cristian Gheorghe, Veronica Epure, Doru Oprea, Adina Zamfir-Chiru-Anton
Medicina (Kaunas) 2023 Mar; 59(3): 461. Published online 2023 Feb 25. doi: 10.3390/medicina59030461
PMCID:
PMC10059694
AbstractArticlePDF–13M
2.
Wideband acoustic absorbance in children with Down syndrome
Alessandra Spada Durante, Mayara Santos, Nayara M.C. de F. Roque, Marcella S. Gameiro, Katia de Almeida, Osmar Mesquita de Sousa Neto
Braz J Otorhinolaryngol. 2019 Mar-Apr; 85(2): 193–198. Published online 2018 Jan 10. doi: 10.1016/j.bjorl.2017.12.006
PMCID:
PMC9452253
AbstractArticlePDF–682K
3.
Acoustic Immittance in children without otoacoustic emissions
Ana Emilia Linares, Renata Mota Mamede Carvallo
Braz J Otorhinolaryngol. 2008 May-Jun; 74(3): 410–416. Published online 2015 Oct 19. doi: 10.1016/S1808-8694(15)30576-0
PMCID:
PMC9442077
AbstractArticlePDF–192K
4.
Hearing screening outcomes in pediatric critical care survivors: a 1-year report
Pattita Suwannatrai, Chanapai Chaiyakulsil
Acute Crit Care. 2022 May; 37(2): 209–216. Published online 2022 Mar 8. doi: 10.4266/acc.2021.00899
PMCID:
PMC9184986
AbstractArticlePDF–719K
5.
Middle ear abnormalities at age 5 years in relation with early onset otitis media and number of episodes, in the Inuit population of Nunavik, Quebec, Canada
P De Wals, JB Lemeur, H Ayukawa, JF Proulx
Int J Circumpolar Health. 2019; 78(1): 1599269. Published online 2019 Mar 29. doi: 10.1080/22423982.2019.1599269
PMCID:
PMC6442088
AbstractArticlePDF–544K
6.
Identification of sequence variants associated with severe microtia-astresia by targeted sequencing
Pu Wang, Yibei Wang, Xinmiao Fan, Yaping Liu, Yue Fan, Tao Liu, Chongjian Chen, Shuyang Zhang, Xiaowei Chen
BMC Med Genomics. 2019; 12: 28. Published online 2019 Jan 28. doi: 10.1186/s12920-019-0475-x
PMCID:
PMC6348636
AbstractArticlePDF–2.6M
7.
Click-evoked auditory brainstem responses and autism spectrum disorder: A meta-analytic review
Nicole M. Talge, Brooke M. Tudor, Paul R. Kileny
Autism Res. Author manuscript; available in PMC 2019 Jun 1.
Published in final edited form as: Autism Res. 2018 Jun; 11(6): 916–927. Published online 2018 Mar 30. doi: 10.1002/aur.1946
PMCID:
PMC6026056
AbstractArticlePDF–184K
8.
Real ear unaided gain and its relation with the equivalent volume of the external and middle ear
Bárbara Guimarães Bastos, Deborah Viviane Ferrari, Wanderléia Quinhoneiro Blasc
Int Arch Otorhinolaryngol. 2012 Jul; 16(3): 365–370. doi: 10.7162/S1809-97772012000300011
PMCID:
PMC4432547
AbstractArticlePDF–703K
9.
MRI Findings of Otic and Sinus Barotrauma in Patients with Carbon Monoxide Poisoning during Hyperbaric Oxygen Therapy
Ping Wang, Xiao-Ming Zhang, Zhao-Hua Zhai, Pei-Ling Li
PLoS One. 2013; 8(6): e65672. Published online 2013 Jun 12. doi: 10.1371/journal.pone.0065672
PMCID:
PMC3680481
AbstractArticlePDF–14M
10.
Thyroid Hormone Receptors Control Developmental Maturation of the Middle Ear and the Size of the Ossicular Bones
Emily A. Cordas, Lily Ng, Arturo Hernandez, Masahiro Kaneshige, Sheue-Yann Cheng, Douglas Forrest
Endocrinology. 2012 Mar; 153(3): 1548–1560. Published online 2012 Jan 17. doi: 10.1210/en.2011-1834
PMCID:
PMC3281545
AbstractArticle
11.
Reading disability and middle ear disease.
D L Share, D Chalmers, P A Silva, I A Stewart
Arch Dis Child. 1986 Apr; 61(4): 400–401. doi: 10.1136/adc.61.4.400
PMCID:
PMC1777734
SummaryPage BrowsePDF–279K
12.
Functional and Genetic Analyses Unveil the Implication of CDC27 in Hemifacial Microsomia
Wenjie Song, Xin Xia, Yue Fan, Bo Zhang, Xiaowei Chen
Int J Mol Sci. 2024 May; 25(9): 4707. Published online 2024 Apr 26. doi: 10.3390/ijms25094707
PMCID:
PMC11083823
AbstractArticlePDF–18M
13.
BMP signaling maintains auricular chondrocyte identity and prevents microtia development by inhibiting protein kinase A
Ruichen Yang, Hongshang Chu, Hua Yue, Yuji Mishina, Zhenlin Zhang, Huijuan Liu, Baojie Li
eLife. 2024; 12: RP91883. Published online 2024 May 1. doi: 10.7554/eLife.91883
PMCID:
PMC11062634
AbstractArticlePDF–16M
14.
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort
Xiaohong Yan, Jing Wang, Wen Yang, Linke Li, Tian Shen, Jia Geng, Qian Zhang, Mingjun Zhong, Wenyu Xiong, Fengxiao Bu, Yu Lu, Yu Zhao, Jing Cheng, Huijun Yuan
J Med Genet. 2024 May; 61(5): 459–468. Published online 2024 Jan 31. doi: 10.1136/jmg-2023-109579
PMCID:
PMC11041606
AbstractArticlePDF–1.6M
15.
Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms
Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang, Guoxi Zheng
BMC Med Genomics. 2024; 17: 89. Published online 2024 Apr 16. doi: 10.1186/s12920-024-01858-y
PMCID:
PMC11020176
AbstractArticlePDF–1.5M
16.
Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder
Jun W. Jeon, Julie Christensen, Jennifer Chisholm, Christopher Zalewski, Marjohn Rasooly, Caeden Dempsey, Alaina Magnani, Pamela Frischmeyer-Guerrerio, Carmen C. Brewer, Hung Jeffrey Kim
Otolaryngol Head Neck Surg. Author manuscript; available in PMC 2024 Apr 11.
Published in final edited form as: Otolaryngol Head Neck Surg. 2022 Feb; 166(2): 357–362. Published online 2021 May 11. doi: 10.1177/01945998211008899
PMCID:
PMC11007485
AbstractArticlePDF–345K
17.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380
PMCID:
PMC10994533
AbstractArticlePDF–2.1M
18.
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
Ying Chen, Run Yang, Xin Chen, Naier Lin, Chenlong Li, Yaoyao Fu, Aijuan He, Yimin Wang, Tianyu Zhang, Jing Ma
Mol Genet Genomic Med. 2024 Apr; 12(4): e2426. Published online 2024 Apr 1. doi: 10.1002/mgg3.2426
PMCID:
PMC10985408
AbstractArticlePDF–2.2M
19.
鳃耳综合征/鳃耳肾综合征的遗传学研究进展
陈 岸海, 凌 捷, 冯 永
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jan 28; 47(1): 129–138. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210251
PMCID:
PMC10930475
AbstractArticlePDF–710K
20.
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
AbstractArticlePDF–1.9M

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