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Select item 38956281.

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

Simone Rost, Elisa Bach, Cordula Neuner, Indrajit Nanda, Sandra Dysek, Reginald E Bittner, Alexander Keller, Oliver Bartsch, Robert Mlynski, Thomas Haaf, Clemens R Müller, Erdmute Kunstmann

Eur J Hum Genet. 2014 Feb; 22(2): 208–215. Published online 2013 May 29. doi: 10.1038/ejhg.2013.108

PMCID:: PMC3895628

Abstract Article PDF–2.8M

Select item 80433912.

Lack of collagen α6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation

Shaoying Tang, Tomoko Yonezawa, Yukihide Maeda, Mitsuaki Ono, Takahiro Maeba, Toru Miyoshi, Ryusuke Momota, Yasuko Tomono, Toshitaka Oohashi

PLoS One. 2021; 16(4): e0249909. Published online 2021 Apr 13. doi: 10.1371/journal.pone.0249909

PMCID:: PMC8043391

Abstract Article PDF–3.2M

Select item 90725113.

Comparison of ABR and ASSR using narrow-band-chirp-stimuli in children with cochlear malformation and/or cochlear nerve hypoplasia suffering from severe/profound hearing loss

Katharina Eder, Daniel Polterauer, Sebastian Semmelbauer, Maria Schuster, Tobias Rader, Eva Hoster, Wilhelm Flatz

Eur Arch Otorhinolaryngol. 2022; 279(6): 2845–2855. Published online 2021 Jul 27. doi: 10.1007/s00405-021-06990-4

PMCID:: PMC9072511

Abstract Article PDF–952K

Select item 99574114.

The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation

Natalia Bałdyga, Dominika Oziębło, Nina Gan, Mariusz Furmanek, Marcin L. Leja, Henryk Skarżyński, Monika Ołdak

Genes (Basel) 2023 Feb; 14(2): 335. Published online 2023 Jan 28. doi: 10.3390/genes14020335

PMCID:: PMC9957411

Abstract Article PDF–957K

Select item 67674145.

Variations in the Size and Shape of Human Cochlear Malformation Types

Anandhan Dhanasingh

Anat Rec (Hoboken) 2019 Oct; 302(10): 1792–1799. Published online 2019 Apr 24. doi: 10.1002/ar.24136

PMCID:: PMC6767414

Abstract Article PDF–1.6M

Select item 10517096.

Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome

Bruno Dallapiccola, Rita Mingarelli

J Med Genet. 1995 Oct; 32(10): 816–818. doi: 10.1136/jmg.32.10.816

PMCID:: PMC1051709

Summary Page Browse PDF–1.1M

Select item 30613917.

TEMPORAL BONE ABNORMALITIES IN CHILDREN WITH GJB2 MUTATIONS

Margaret A. Kenna, Heidi L. Rehm, Anna Frangulov, Henry A. Feldman, Caroline D. Robson

Laryngoscope. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Laryngoscope. 2011 Mar; 121(3): 630–635. Published online 2011 Feb 4. doi: 10.1002/lary.21414

PMCID:: PMC3061391

Abstract Article PDF–757K

Select item 44517188.

High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss

Kunio Mizutari, Hideki Mutai, Kazunori Namba, Yuko Miyanaga, Atsuko Nakano, Yukiko Arimoto, Sawako Masuda, Noriko Morimoto, Hirokazu Sakamoto, Kimitaka Kaga, Tatsuo Matsunaga

Orphanet J Rare Dis. 2015; 10: 60. Published online 2015 May 13. doi: 10.1186/s13023-015-0276-z

PMCID:: PMC4451718

Abstract Article PDF–879K

Select item 81749579.

Anomalous Facial Nerve Canal with Cochlear Malformations

Laura Vitale Romo, Hugh D. Curtin

AJNR Am J Neuroradiol. 2001 May; 22(5): 838–844.

PMCID:: PMC8174957

Abstract Article PDF–432K

Select item 893079610.

Variation of the cochlear anatomy and cochlea duct length: analysis with a new tablet-based software

Jennifer L. Spiegel, Daniel Polterauer, John-Martin Hempel, Martin Canis, Judith E. Spiro, Joachim Müller

Eur Arch Otorhinolaryngol. 2022; 279(4): 1851–1861. Published online 2021 May 29. doi: 10.1007/s00405-021-06889-0

PMCID:: PMC8930796

Abstract Article PDF–1017K

Select item 733137511.

Clinical evaluation of cochlear implantation in children younger than 12 months of age

Yang Yang, Min Chen, Jun Zheng, Jinsheng Hao, Bing Liu, Wei Liu, Bei Li, Jianbo Shao, Haihong Liu, Xin Ni, Jie Zhang

Pediatr Investig. 2020 Jun; 4(2): 99–103. Published online 2020 Jun 24. doi: 10.1002/ped4.12202

PMCID:: PMC7331375

Abstract Article PDF–394K

Select item 675078612.

E-ABR in Patients with Cochlear Implant: A Comparison between Patients with Malformed Cochlea and Normal Cochlea

Arianna Di Stadio, Laura Dipietro, Antonietta De Lucia, Franco Trabalzini, Giampietro Ricci, Francesco Martines, Vincenzo Pastore, Antonio della Volpe

J Int Adv Otol. 2019 Aug; 15(2): 215–221. doi: 10.5152/iao.2019.6251

PMCID:: PMC6750786

Abstract Article PDF–3.1M

Select item 643878913.

Auditory Brainstem Implantation: An Overview

Nicholas L. Deep, Baishakhi Choudhury, J. Thomas Roland, Jr.

J Neurol Surg B Skull Base. 2019 Apr; 80(2): 203–208. Published online 2019 Feb 14. doi: 10.1055/s-0039-1679891

PMCID:: PMC6438789

Abstract Article PDF–219K

Select item 483726714.

Revision Stapedectomy in a Female Patient with Inner Ear Malformation

Tirth R. Patel, Aaron C. Moberly

Case Rep Otolaryngol. 2016; 2016: 8520703. Published online 2016 Apr 6. doi: 10.1155/2016/8520703

PMCID:: PMC4837267

Abstract Article PDF–1.0M

Select item 442381415.

SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct

Taku Ito, Julie Muskett, Parna Chattaraj, Byung Yoon Choi, Kyu Yup Lee, Christopher K Zalewski, Kelly A King, Xiangming Li, Philine Wangemann, Thomas Shawker, Carmen C Brewer, Seth L Alper, Andrew J Griffith

World J Otorhinolaryngol. Author manuscript; available in PMC 2015 May 7.

Published in final edited form as: World J Otorhinolaryngol. 2013 May 28; 3(2): 26–34. doi: 10.5319/wjo.v3.i2.26