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Items: 1 to 20 of 166

1.
Cross-Sectional Study to Estimate the Prevalence of Inner-Ear Anomalies in Children With Congenital Sensorineural Hearing Loss by High-Resolution Computed Tomography (HRCT) Temporal Bone Scan
Deeksha D D, GC Patil
Cureus. 2023 Jul; 15(7): e42160. Published online 2023 Jul 19. doi: 10.7759/cureus.42160
PMCID:
PMC10439020
AbstractArticlePDF–943K
2.
内耳畸形人工耳蜗植入手术难点及其处理
赖 若沙, 伍 伟景, 李 葳, 谢 鼎华, 刘 嘉
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2020 Oct 5; 34(10): 919–924. Chinese. doi: 10.13201/j.issn.2096-7993.2020.10.012
PMCID:
PMC10128523
AbstractArticlePDF–3.0M
3.
Auditory Brainstem Implants in Children with Inner Ear Anomalies: An Indian Perspective
Prawin Kumar, Prabuddha Bhatarai, Ariya Jayan
Indian J Otolaryngol Head Neck Surg. 2022 Dec; 74(Suppl 3): 4171–4176. Published online 2021 Oct 8. doi: 10.1007/s12070-021-02900-6
PMCID:
PMC9895494
AbstractArticlePDF–352K
4.
Facial Nerve Anomalies as an Obscure Co-occurrence With External Ear Malformations: A Case Report
Subhashini Dhandayutham, Nitin K Damam, Tessy Henry Gomez, Megha Sasidharan, Cynthia Sathees
Cureus. 2022 Jul; 14(7): e26907. Published online 2022 Jul 16. doi: 10.7759/cureus.26907
PMCID:
PMC9376736
AbstractArticlePDF–610K
5.
Imaging in a Rare Case of Unilateral External and Middle Ear Anomalies Associated with Inner Ear Malformation
Anagha R. Joshi, Anisha O. Talreja, Mrinalini M. Rahatgaonkar, Harshal A. Badgujar
Indian J Radiol Imaging. 2021 Apr; 31(2): 495–498. Published online 2021 Jul 28. doi: 10.1055/s-0041-1734355
PMCID:
PMC8448219
AbstractArticlePDF–2.7M
6.
Non-surgical Correction of Congenital Ear Anomalies: A Review of the Literature
Michelle M.W. Feijen, Cas van Cruchten, Phileemon E. Payne, Rene R. W. J. van der Hulst
Plast Reconstr Surg Glob Open. 2020 Nov; 8(11): e3250. Published online 2020 Nov 24. doi: 10.1097/GOX.0000000000003250
PMCID:
PMC7722567
AbstractArticlePDF–1.1M
7.
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
Semra Gürsoy, Filiz Hazan, Tülay Öztürk, Halil Ateş
Mol Syndromol. 2020 Jan; 10(6): 339–343. Published online 2019 Dec 20. doi: 10.1159/000504829
PMCID:
PMC6995966
AbstractArticlePDF–557K
8.
Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies
Emre Ocak, Duygu Duman, Mustafa Tekin
Balkan Med J. 2019 Jul; 36(4): 206–211. Published online 2019 Jul 11. doi: 10.4274/balkanmedj.galenos.2019.2019.4.66
PMCID:
PMC6636654
AbstractArticlePDF–448K
9.
Analysis of Inner Ear Anomalies in Unilateral Congenital Aural Atresia Combined With Microtia
Euyhyun Park, Gijeong Lee, Hak Hyun Jung, Gi Jung Im
Clin Exp Otorhinolaryngol. 2019 May; 12(2): 176–180. Published online 2018 Nov 7. doi: 10.21053/ceo.2018.00857
PMCID:
PMC6453793
AbstractArticlePDF–1.0M
10.
Prevalence of inner ear anomalies among cochlear implant candidates
Ahmad M. Aldhafeeri, Abdulrahman A. Alsanosi
Saudi Med J. 2016 Oct; 37(10): 1096–1100. doi: 10.15537/smj.2016.10.15025
PMCID:
PMC5075373
AbstractArticlePDF–1.7M
11.
CHARGE Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Non-Immunologic Phenotypic Features
Soma Jyonouchi, Donna M. McDonald-McGinn, Sherri Bale, Elaine H. Zackai, Kathleen E. Sullivan
Pediatrics. Author manuscript; available in PMC 2014 Jul 15.
Published in final edited form as: Pediatrics. 2009 May; 123(5): e871–e877. doi: 10.1542/peds.2008-3400
PMCID:
PMC4098848
AbstractArticlePDF–54K
12.
A Case with Mega Cisterna Magna Renal and Ear Anomalies: Is This a New Syndrome?
Çapan Konca, Bahar Caliskan, Mehmet Ali Tas
Case Rep Med. 2013; 2013: 149656. Published online 2013 May 15. doi: 10.1155/2013/149656
PMCID:
PMC3671267
AbstractArticlePDF–3.1M
13.
Renal ultrasonography not required in babies with isolated minor ear anomalies
S A Deshpande, H Watson
Arch Dis Child Fetal Neonatal Ed. 2006 Jan; 91(1): F29–F30. doi: 10.1136/adc.2005.083329
PMCID:
PMC2672645
AbstractArticlePDF–149K
14.
Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review
Jinsong Jiang, Yu Feng, Qiaoyin Tang, Chenyue Zhao, Min Guo, Jianrui Wu, Rong Guo, Hongyong Lu, Xiayu Sun, Jingbo Gao, Huiqin Xue
Mol Genet Genomic Med. 2024 Jan; 12(1): e2326. Published online 2023 Nov 28. doi: 10.1002/mgg3.2326
PMCID:
PMC10767687
AbstractArticlePDF–9.5M
15.
Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D‐related Kabuki syndrome
Zhoushu Zheng, Lu Ding, Meihong Wang, Yinghui Zhang, Yihui Yang, Ming Tang, Jun Xu, Liangjiong Wang, Junhua Wu, Haibo Li
Mol Genet Genomic Med. 2024 Jan; 12(1): e2306. Published online 2023 Nov 3. doi: 10.1002/mgg3.2306
PMCID:
PMC10767598
AbstractArticlePDF–1.3M
16.
Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome
Alessandra Ferrario, Nijas Aliu, Claudine Rieubland, Sébastian Vuilleumier, Hilary M. Grabe, Pascal Escher
Genes (Basel) 2023 Dec; 14(12): 2222. Published online 2023 Dec 16. doi: 10.3390/genes14122222
PMCID:
PMC10742694
AbstractArticlePDF–1.3M
17.
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report
Marion Rolland, Christèle Dubourg, Auriane Cospain, Catherine Droitcourt, Laurent Pasquier
Pediatr Dermatol. 2022 May-Jun; 39(3): 434–437. Published online 2022 Mar 8. doi: 10.1111/pde.14969
PMCID:
PMC10286643
AbstractArticlePDF–1.6M
18.
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
Peter J. Mustillo, Kathleen E. Sullivan, Ivan K. Chinn, Luigi D. Notarangelo, Elie Haddad, E. Graham Davies, Maria Teresa de la Morena, Nicholas Hartog, Joyce E. Yu, Vivian P. Hernandez-Trujillo, Winnie Ip, Jose Franco, Eleonora Gambineri, Scott E. Hickey, Elizabeth Varga, M. Louise Markert
J Clin Immunol. 2023; 43(2): 247–270. Published online 2023 Jan 17. doi: 10.1007/s10875-022-01418-y
Correction in:
J Clin Immunol. 2024; 44(2): 53.
PMCID:
PMC9892161
AbstractArticlePDF–1.0M
19.
Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
Leonid A. Klarov, Vera G. Pshennikova, Georgii P. Romanov, Aleksandra M. Cherdonova, Aisen V. Solovyev, Fedor M. Teryutin, Nikolay V. Luginov, Petr M. Kotlyarov, Nikolay A. Barashkov
Int J Mol Sci. 2022 Dec; 23(23): 15372. Published online 2022 Dec 6. doi: 10.3390/ijms232315372
PMCID:
PMC9740095
AbstractArticlePDF–2.1M
20.
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith–Wiedemann Syndrome
Hwa Young Kim, Choong Ho Shin, Young Ah Lee, Chang Ho Shin, Gu-Hwan Kim, Jung Min Ko
Ann Lab Med. 2022 Nov 1; 42(6): 668–677. Published online 2022 Nov 1. doi: 10.3343/alm.2022.42.6.668
PMCID:
PMC9277041
AbstractArticlePDF–811K

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