Citations (112)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (5)
Alina Zajadacz. (2014) Sources of tourist information used by Deaf people. Case study: the Polish Deaf community. Current Issues in Tourism 17:5, pages 434-454.
Read now
Read now
Cristina Ros, Anna Tercero, Isam Alobid, Juan Balasch, Joan Santamaria, Joaquim Mullol & Camil Castelo-Branco. (2014) Hearing loss in adult women with Turner’s syndrome and other congenital hypogonadisms. Gynecological Endocrinology 30:2, pages 111-116.
Read now
Read now
Elona Cama, Salvatore Melchionda, Teresa Palladino, Massimo Carella, Rosamaria Santarelli, Elisabetta Genovese, Filippo Benettazzo, Leopoldo Zelante & Edoardo Arslan. (2009) Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort. International Journal of Audiology 48:1, pages 12-17.
Read now
Read now
Lisbeth Tranebjærg. (2008) Genetics of congenital hearing impairment: A clinical approach. International Journal of Audiology 47:9, pages 535-545.
Read now
Read now
Manuela Mazzoli, Alessandra Murgia, Maria Bitner, Paulo Gasparini, Andrew Read & Agnete Parving. (2004) Guidelines and recommendations for testing of CX26 mutations and interpretation of results. Audiological Medicine 2:2, pages 139-140.
Read now
Read now
Articles from other publishers (107)
LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A. Eshraghi, Michael E. Hoffer, Simon I. Angeli, Guney Bademci, Susan Blanton, Carson Smith, Fred F. Telischi & Mustafa Tekin. (2023) Dispersed DNA variants underlie hearing loss in South Florida’s minority population. Human Genomics 17:1.
Crossref
Crossref
Emma N. M. M. von Scheibler, Josine C. C. Widdershoven, Denise C. P. B. M. van Barneveld, Nina Schröder, Agnies M. van Eeghen, Thérèse A. M. J. van Amelsvoort & Erik Boot. (2023) Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2. American Journal of Medical Genetics Part A.
Crossref
Crossref
Nobuko Yamamoto, Jorune Balciuniene, Tiffiney Hartman, Maria Alejandra Diaz-Miranda, Emma Bedoukian, Batsal Devkota, Audrey Lawrence, Netta Golenberg, Maha Patel, Archana Tare, Robert Chen, Emma Schindler, Jiwon Choi, Maninder Kaur, Sarah Charles, Jiani Chen, Elizabeth A. Fanning, Elizabeth Dechene, Kajia Cao, Murrell R. Jill, Ramakrishnan Rajagopalan, Yavuz Bayram, Matthew C. Dulik, John Germiller, Laura K. Conlin, Ian D. Krantz & Minjie Luo. (2023) Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield. The Journal of Pediatrics 262, pages 113620.
Crossref
Crossref
Sushma Singh, Cindy Penney, Anne Griffin, Geoffrey Woodland, Salem Werdyani, Tammy A. Benteau, Nelly Abdelfatah, Jessica Squires, Beverly King, Jim Houston, Matthew J. Dyer, Nicole M. Roslin, Daniel Vincent, Pascale Marquis, Darren D. O’Rielly, Kathy Hodgkinson, Taylor Burt, Ashley Baker, Susan G. Stanton & Terry-Lynn Young. (2023) Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses. European Journal of Human Genetics 31:7, pages 815-823.
Crossref
Crossref
Yen-Hui Lee, Cheng-Yu Tsai, Yue-Sheng Lu, Pei-Hsuan Lin, Yu-Ting Chiang, Ting-Hua Yang, Jacob Shu-Jui Hsu, Chuan-Jen Hsu, Pei-Lung Chen, Tien-Chen Liu & Chen-Chi Wu. (2023) Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population. Genes 14:4, pages 880.
Crossref
Crossref
Hedwig M. Velde, Xanne J. J. Huizenga, Helger G. Yntema, Lonneke Haer-Wigman, Andy J. Beynon, Jaap Oostrik, Sjoert A. H. Pegge, Hannie Kremer, Cris P. Lanting & Ronald J. E. Pennings. (2023) Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38. Genes 14:2, pages 457.
Crossref
Crossref
Elizabeth H. Theng, Carmen C. Brewer, Ralf Oheim, Christopher K. Zalewski, Kelly A. King, Maximillian M. Delsmann, Tim Rolvien, Rachel I. Gafni, Demetrios T. Braddock, H. Jeffrey Kim & Carlos R. Ferreira. (2022) Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI). Orphanet Journal of Rare Diseases 17:1.
Crossref
Crossref
Cris Lanting, Ad Snik, Joop Leijendeckers, Arjan Bosman & Ronald Pennings. (2022) Genetic Hearing Loss Affects Cochlear Processing. Genes 13:11, pages 1923.
Crossref
Crossref
Yu Ding, Yaoshu Teng, Qinxian Guo & Jianhang Leng. (2022) Mitochondrial tRNAGln 4394C>T Mutation May Contribute to the Clinical Expression of 1555A>G-Induced Deafness. Genes 13:10, pages 1794.
Crossref
Crossref
Sheng‐Jia Lin, Barbara Vona, Hillary M. Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie, Jill A. Rosenfeld, Saadullah Khan, Cassidy Petree, Tayyiba A. Ali, Nazif Muhammad, Sher A. Khan, Noor Muhammad, Pengfei Liu, Marie‐Louise Haymon, Franz Rüschendorf, Il‐Keun Kong, Linda Schnapp, Natasha Shur, Lynn Chorich, Lawrence Layman, Thomas Haaf, Ehsan Pourkarimi, Hyung‐Goo Kim & Gaurav K. Varshney. (2022)
Biallelic variants in
WARS1
cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
. Human Mutation 43:10, pages 1472-1489.
Crossref
Crossref
Sadik Quoraishi, Gemma Mason, Tarekegn Geberhiwot & Claudia Lucy Dalton. (2022) Hearing Loss in Adults With Alström Syndrome—Experience From the UK National Alström Service. Otology & Neurotology 43:6, pages e620-e627.
Crossref
Crossref
Jordan M. Racca, John Lee, Faith Sikorski, E. Bryan Crenshaw & Linda J. Hood. (2021) Cholesteatoma Is Associated With Pediatric Progressive Sensorineural Hearing Loss. Ear & Hearing 43:4, pages 1282-1290.
Crossref
Crossref
Pey-Yu Chen, Cheng-Yu Tsai, Jiunn-Liang Wu, Yi-Lu Li, Che-Ming Wu, Kuang-Chao Chen, Chung-Feng Hwang, Hung-Pin Wu, Hung-Ching Lin, Yen-Fu Cheng, Ming-Yu Lo, Tien-Chen Liu, Ting-Hua Yang, Pei-Lung Chen, Chuan-Jen Hsu & Chen-Chi Wu. (2021) Hearing Features and Cochlear Implantation Outcomes in Patients With PathogenicMYO15AVariants: a Multicenter Observational Study. Ear & Hearing 43:4, pages 1198-1207.
Crossref
Crossref
Paulina Bahena, Narsis Daftarian, Reza Maroofian, Paola Linares, Daniel Villalobos, Mehraban Mirrahimi, Aboulfazl Rad, Julia Doll, Michaela A. H. Hofrichter, Asuman Koparir, Tabea Röder, Seungbin Han, Hamideh Sabbaghi, Hamid Ahmadieh, Hassan Behboudi, Cristina Villanueva-Mendoza, Vianney Cortés-Gonzalez, Rocio Zamora-Ortiz, Susanne Kohl, Laura Kuehlewein, Hossein Darvish, Elham Alehabib, Maria de la Luz Arenas-Sordo, Fatemeh Suri, Barbara Vona & Thomas Haaf. (2021) Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. Human Genetics 141:3-4, pages 785-803.
Crossref
Crossref
Fabiola Huesca-Hernández, Juan Domínguez-Aburto, Silvia Alejandra Aguilera-Tello, María de la Luz Arenas-Sordo & Garly González-Rosado. (2022) Sordera neurosensorial congénita con malformación de oído interno ligada al X en una familia mexicana. Revista de Investigación e Innovación en Ciencias de la Salud 4:1, pages press.
Crossref
Crossref
Paula I. Buonfiglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, Florencia Giliberto, Sebastián Menazzi, Liliana Francipane, Bibiana Paoli, Ernesto Goldschmidt, Ana Belén Elgoyhen & Viviana Dalamón. (2022) Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches. Scientific Reports 12:1.
Crossref
Crossref
Ken Hiramatsu, Shin-ya Nishio, Shin-ichiro Kitajiri, Tomohiro Kitano, Hideaki Moteki & Shin-ichi Usami. (2021) Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants. Genes 12:10, pages 1623.
Crossref
Crossref
Frederic R. E. Acke, Helen Van Hoecke & Els M. R. De Leenheer. (2021) Congenital Unilateral Hearing Loss: Characteristics and Etiological Analysis in 121 Patients. Otology & Neurotology 42:9, pages 1375-1381.
Crossref
Crossref
Memoona Ramzan, Christophe Philippe, Inna A. Belyantseva, Yoko Nakano, Cristina Fenollar‐Ferrer, Risa Tona, Rizwan Yousaf, Rasheeda Basheer, Ayesha Imtiaz, Rabia Faridi, Zunaira Munir, Hafiza Idrees, Midhat Salman, Sophie Nambot, Antonio Vitobello, Souad Kartti, Oumaima Zarrik, P. Dane Witmer, Nara Sobreria, Azeddine Ibrahimi, Botond Banfi, Sebastien Moutton, Thomas B. Friedman & Sadaf Naz. (2021)
Variants of human
CLDN9
cause mild to profound hearing loss
. Human Mutation 42:10, pages 1321-1335.
Crossref
Crossref
Ertugrul KiykimMelda KayaMevlut Tamer Dincer, Alev Bakir, Selma Alagoz, Ayse Aktuglu Zeybek, Sibel Gulcicek, Nurhan Seyahi, Sinan Trabulus & Ahmet Atas. (2021) Reflex Decay Test Can Reveal Ear Involvement in Fabry Disease. Ear & Hearing 42:5, pages 1351-1357.
Crossref
Crossref
Sha Yu, Wen-xia Chen, Yun-Fei Zhang, Chao Chen, Yihua Ni, Bo Duan, Huijun Wang & Zheng-min Xu. (2021) Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants. International Journal of Pediatric Otorhinolaryngology 145, pages 110715.
Crossref
Crossref
Barbara Vona, Neda Mazaheri, Sheng-Jia Lin, Lucy A. Dunbar, Reza Maroofian, Hela Azaiez, Kevin T. Booth, Sandrine Vitry, Aboulfazl Rad, Franz Rüschendorf, Pratishtha Varshney, Ben Fowler, Christian Beetz, Kumar N. Alagramam, David Murphy, Gholamreza Shariati, Alireza Sedaghat, Henry Houlden, Cassidy Petree, Shruthi VijayKumar, Richard J. H. Smith, Thomas Haaf, Aziz El-Amraoui, Michael R. Bowl, Gaurav K. Varshney & Hamid Galehdari. (2021) A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. Human Genetics 140:6, pages 915-931.
Crossref
Crossref
Sang-Yeon Lee, Seung Cheol Han, Jin Hee Han, Min Young Kim, Doo-Yi Oh, Namju Justin Kim, Jae-Jin Song, Ja-Won Koo, Jun Ho LeeSeung-Ha OhByung Yoon Choi. (2021) Natural Course of Residual Hearing with Reference to GJB2 and SLC26A4 Genotypes: Clinical Implications for Hearing Rehabilitation. Ear & Hearing 42:3, pages 644-653.
Crossref
Crossref
Tingfang Chen, Alex M. Rohacek, Matthew Caporizzo, Amir Nankali, Jeroen J. Smits, Jaap Oostrik, Cornelis P. Lanting, Erdi Kücük, Christian Gilissen, Jiddeke M. van de Kamp, Ronald J.E. Pennings, Staci M. Rakowiecki, Klaus H. Kaestner, Kevin K. Ohlemiller, John S. Oghalai, Hannie Kremer, Benjamin L. Prosser & Douglas J. Epstein. (2021) Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing. Developmental Cell 56:10, pages 1526-1540.e7.
Crossref
Crossref
Suzanne E de Bruijn, Jeroen J Smits, Chang Liu, Cornelis P Lanting, Andy J Beynon, Joëlle Blankevoort, Jaap Oostrik, Wouter Koole, Erik de Vrieze, Cor W R J Cremers, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Henricus P M Kunst, Bo Zhao, Ronald J E Pennings & Hannie Kremer. (2021)
A
RIPOR2
in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
. Journal of Medical Genetics 58:2, pages 96-104.
Crossref
Crossref
Julia Doll, Barbara Vona, Linda Schnapp, Franz Rüschendorf, Imran Khan, Saadullah Khan, Noor Muhammad, Sher Alam Khan, Hamed Nawaz, Ajmal Khan, Naseer Ahmad, Susanne M. Kolb, Laura Kühlewein, Jonathan D. J. Labonne, Lawrence C. Layman, Michaela A. H. Hofrichter, Tabea Röder, Marcus Dittrich, Tobias Müller, Tyler D. Graves, Il-Keun Kong, Indrajit Nanda, Hyung-Goo Kim & Thomas Haaf. (2020) Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families. Genes 11:11, pages 1329.
Crossref
Crossref
Zhan-Kui Xing, Su-Yang Wang, Xin Xia, Wen-Juan Ding, Lei Duan, Xiao Cui, Bai-Cheng Xu, Yi-Ming Zhu & Xiao-Wen Liu. (2020) Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family. International Journal of Pediatric Otorhinolaryngology 138, pages 110202.
Crossref
Crossref
Brigitte T. A. Broek, Adriana L. Smit, Jaap Jan Boelens & Peter M. Hasselt. (2020)
Hearing loss in patients with mucopolysaccharidoses
‐1
and
‐6
after hematopoietic cell transplantation:
A longitudinal analysis
. Journal of Inherited Metabolic Disease 43:6, pages 1279-1287.
Crossref
Crossref
Xiao-Wen Liu, Jian-Chao Wang, Su-Yang Wang, Shu-Juan Li, Yi-Ming Zhu, Wen-Juan Ding, Chen-Yang Xu, Lei Duan, Bai-Cheng Xu & Yu-Fen Guo. (2020) The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. International Journal of Pediatric Otorhinolaryngology 136, pages 110143.
Crossref
Crossref
Julia Doll, Michaela A. H. Hofrichter, Paulina Bahena, Alfred Heihoff, Dennis Segebarth, Tobias Müller, Marcus Dittrich, Thomas Haaf & Barbara Vona. (2020)
A novel missense variant in
MYO3A
is associated with autosomal dominant high‐frequency hearing loss in a German family
. Molecular Genetics & Genomic Medicine 8:8.
Crossref
Crossref
Nobuko Yamamoto, Hideki Mutai, Kazunori Namba, Fumiyuki Goto, Kaoru Ogawa & Tatsuo Matsunaga. (2020) Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis. Otology & Neurotology 41:6, pages e663-e673.
Crossref
Crossref
Jun Shinagawa, Hideaki Moteki, Shin-ya Nishio, Kenji Ohyama, Koshi Otsuki, Satoshi Iwasaki, Shin Masuda, Chie Oshikawa, Yumi Ohta, Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Satoko Abe, Yuika Sakurai, Hirofumi Sakaguchi, Takashi Ishino, Natsumi Uehara & Shin-ichi Usami. (2020) Prevalence and clinical features of hearing loss caused by EYA4 variants. Scientific Reports 10:1.
Crossref
Crossref
Elizabeth M. Fitzpatrick, Flora Nassrallah, Bénédicte Vos, JoAnne Whittingham & Jessica Fitzpatrick. (2020) Progressive Hearing Loss in Children With Mild Bilateral Hearing Loss. Language, Speech, and Hearing Services in Schools 51:1, pages 5-16.
Crossref
Crossref
Julia Doll, Susanne Kolb, Linda Schnapp, Aboulfazl Rad, Franz Rüschendorf, Imran Khan, Abolfazl Adli, Atefeh Hasanzadeh, Daniel Liedtke, Sabine Knaup, Michaela AH Hofrichter, Tobias Müller, Marcus Dittrich, Il-Keun Kong, Hyung-Goo Kim, Thomas Haaf & Barbara Vona. (2020) Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients. International Journal of Molecular Sciences 21:1, pages 311.
Crossref
Crossref
Pey-Yu Chen, Yin-Hung Lin, Tien-Chen Liu, Yi-Hsin Lin, Li-Hui Tseng, Ting-Hua Yang, Pei-Lung Chen, Chen-Chi Wu & Chuan-Jen Hsu. (2020) Prediction Model for Audiological Outcomes in Patients With GJB2 Mutations. Ear & Hearing 41:1, pages 143-149.
Crossref
Crossref
Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu & Qizhu Wu. (2019) A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family. BMC Medical Genetics 20:1.
Crossref
Crossref
Justin A. Pater, Jane Green, Darren D. O’Rielly, Anne Griffin, Jessica Squires, Taylor Burt, Sara Fernandez, Bridget Fernandez, Jim Houston, Jiayi Zhou, Nicole M. Roslin & Terry-Lynn Young. (2019) Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss. BMC Medical Genetics 20:1.
Crossref
Crossref
Jungmin Ahn, Jung Joo Lee, Song-I. Park, Sung-Yoon Cho, Dong-Kyu Jin, Yang-Sun Cho, Won-Ho Chung, Sung-Hwa Hong & Il Joon Moon. (2019) Auditory Characteristics in Patients With Mucopolysaccharidosis. Otology & Neurotology 40:10, pages e955-e961.
Crossref
Crossref
Michaela A.H. Hofrichter, Julia Doll, Haleh Habibi, Samaneh Enayati, Mohammad Yahya Vahidi Mehrjardi, Tobias Müller, Marcus Dittrich, Thomas Haaf & Barbara Vona. (2019) Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss. European Journal of Medical Genetics 62:10, pages 103724.
Crossref
Crossref
Claire J. Sineni, Muzeyyen Yildirim-Baylan, Shengru Guo, Vladimir Camarena, Gaofeng Wang, Suna Tokgoz-Yilmaz, Duygu Duman, Guney Bademci & Mustafa Tekin. (2019) A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss. Human Genetics 138:10, pages 1071-1075.
Crossref
Crossref
Karuna Maekawa, Shin-ya Nishio, Satoko Abe, Shin-ichi Goto, Yohei Honkura, Satoshi Iwasaki, Yukihiko Kanda, Yumiko Kobayashi, Shin-ichiro Oka, Mayuri Okami, Chie Oshikawa, Naoko Sakuma, Hajime Sano, Masayuki Shirakura, Natsumi Uehara & Shin-ichi Usami. (2019) Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort. Genes 10:10, pages 735.
Crossref
Crossref
Kitano, Kitajiri, Nishio & Usami. (2019) Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant. International Journal of Molecular Sciences 20:18, pages 4579.
Crossref
Crossref
Sugiyama, Moteki, Kitajiri, Kitano, Nishio, Yamaguchi, Wakui, Abe, Ozaki, Motegi, Matsui, Teraoka, Kobayashi, Kosho & Usami. (2019) Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss. Genes 10:9, pages 715.
Crossref
Crossref
C. Eyermann, T. Raguin, D. Rohmer, E. Noel & A. Charpiot. (2019) Cochleovestibular manifestations in Fabry disease: Importance of screening and systematic ENT evaluation. European Annals of Otorhinolaryngology, Head and Neck Diseases 136:4, pages 273-279.
Crossref
Crossref
C. Eyermann, T. Raguin, D. Rohmer, E. Noel & A. Charpiot. (2019) Les manifestations cochléo-vestibulaires dans la maladie de Fabry : intérêt du dépistage et du bilan ORL systématique. Annales françaises d'Oto-rhino-laryngologie et de Pathologie Cervico-faciale 136:4, pages 272-278.
Crossref
Crossref
Valerie Dahm, Michael Nieratschker, Dominik Riss, Alexandra Kaider, Alice Auinger, Clemens Honeder & Christoph Arnoldner. (2019) Intratympanic Triamcinolone Acetonide as Treatment Option for Idiopathic Sudden Sensorineural Hearing Loss. Otology & Neurotology 40:6, pages 720-727.
Crossref
Crossref
Rosamaria Santarelli, Chiara La Morgia, Maria Lucia Valentino, Piero Barboni, Anna Monteleone, Pietro Scimemi & Valerio Carelli. (2019) Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy. Frontiers in Neuroscience 13.
Crossref
Crossref
Jeroen J. Smits, Jaap Oostrik, Andy J. Beynon, Sarina G. Kant, Pia A. M. de Koning Gans, Liselotte J. C. Rotteveel, Jolien S. Klein Wassink-Ruiter, Rolien H. Free, Saskia M. Maas, Jiddeke van de Kamp, Paul Merkus, Wouter Koole, Ilse Feenstra, Ronald J. C. Admiraal, Cornelis P. Lanting, Margit Schraders, Helger G. Yntema, Ronald J. E. Pennings & Hannie Kremer. (2018) De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. Human Genetics 138:1, pages 61-72.
Crossref
Crossref
Machteld M. Oud, Brooke L. Latour, Zeineb Bakey, Stef J. Letteboer, Dorien Lugtenberg, Ka Man Wu, Elisabeth A. M. Cornelissen, Helger G. Yntema, Miriam Schmidts, Ronald Roepman & Ernie M. H. F. Bongers. (2018) Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis. Cilia 7:1.
Crossref
Crossref
Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor & Ehsan Ghayoor Karimiani. (2018) Expanding the clinical phenotype of IARS2-related mitochondrial disease. BMC Medical Genetics 19:1.
Crossref
Crossref
Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf & Barbara Vona. (2018) The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family. BMC Medical Genetics 19:1.
Crossref
Crossref
Xianlei Wang, Lihui Huang, Xuelei Zhao, Xueyao Wang, Xiaohua Cheng, Yating Du & Dongxin Liu. (2018) Children with <i>GJB2</i> gene mutations have various audiological phenotypes. BioScience Trends 12:4, pages 419-425.
Crossref
Crossref
M. Wesdorp, V. Schreur, A.J. Beynon, J. Oostrik, J.M. van de Kamp, M.W. Elting, M.-J.H. van den Boogaard, I. Feenstra, R.J.C. Admiraal, H.P.M. Kunst, C.B. Hoyng, H. Kremer, H.G. Yntema, R.J.E. Pennings & M. Schraders. (2018)
Further audiovestibular characterization of DFNB77, caused by deleterious variants in
LOXHD1
, and investigation into the involvement of Fuchs corneal dystrophy
. Clinical Genetics 94:2, pages 221-231.
Crossref
Crossref
Mieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, Adelaida M. Celaya, Anne Oonk, Margit Schraders, Jaap Oostrik, Elena Gomez-Rosas, Andy J. Beynon, Bas P. Hartel, Kees Okkersen, Hans J.P.M. Koenen, Jack Weeda, Stefan Lelieveld, Nicol C. Voermans, Irma Joosten, Carel B. Hoyng, Peter Lichtner, Henricus P.M. Kunst, Ilse Feenstra, Suzanne E. de Bruijn, Ronald J.C. Admiraal, Helger G. Yntema, Erwin van Wijk, Ignacio del Castillo, Pau Serra, Isabel Varela-Nieto, Ronald J.E. Pennings, Hannie Kremer, M.F. van Dooren, H.H.W. de Gier, E.H. Hoefsloot, M.P. van der Schroeff, S.G. Kant, L.J.C. Rotteveel, S.G.M. Frints, J.R. Hof, R.J. Stokroos, E.K. Vanhoutte, R.J.C. Admiraal, I. Feenstra, H. Kremer, H.P.M. Kunst, R.J.E. Pennings, H.G. Yntema, A.J. van Essen, R.H. Free & J.S. Klein-Wassink. (2018) MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse. The American Journal of Human Genetics 103:1, pages 74-88.
Crossref
Crossref
Guney Bademci, Clemer Abad, Armagan Incesulu, Abolfazl Rad, Ozgul Alper, Susanne M. Kolb, Filiz B. Cengiz, Oscar Diaz-Horta, Fatma Silan, Ercan Mihci, Emre Ocak, Maryam Najafi, Reza Maroofian, Elanur Yilmaz, Banu G. Nur, Duygu Duman, Shengru Guo, David W. Sant, Gaofeng Wang, Paula V. Monje, Thomas Haaf, Susan H. Blanton, Barbara Vona, Katherina Walz & Mustafa Tekin. (2018) MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss. Human Genetics 137:6-7, pages 479-486.
Crossref
Crossref
Jorge Rodrigues, Olga Azevedo, Nuno Sousa, Damião Cunha, Alexandre Mexedo & Rui Fonseca. (2018) Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre. European Journal of Medical Genetics 61:6, pages 341-347.
Crossref
Crossref
Mieke Wesdorp, Pia A. M. de Koning Gans, Margit Schraders, Jaap Oostrik, Martijn A. Huynen, Hanka Venselaar, Andy J. Beynon, Judith van Gaalen, Vitória Piai, Nicol Voermans, Michelle M. van Rossum, Bas P. Hartel, Stefan H. Lelieveld, Laurens Wiel, Berit Verbist, Liselotte J. Rotteveel, Marieke F. van Dooren, Peter Lichtner, Henricus P. M. Kunst, Ilse Feenstra, Ronald J. C. Admiraal, Helger G. Yntema, Lies H. Hoefsloot, Ronald J. E. Pennings & Hannie Kremer. (2018) Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. Human Genetics 137:5, pages 389-400.
Crossref
Crossref
Lisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, Nanna D. Rendtorff, Hanne Poulsen, Himanshu Khandelia, Wojciech Kopec, Troels J. Brünnich Lyngbye, Christian Hamel, Cecile Delettre, Beatrice Bocquet, Michael Bille, Hanne H. Owen, Toke Bek, Hanne Jensen, Karen Østergaard, Claes Möller, Linda Luxon, Lucinda Carr, Louise Wilson, Kaukab Rajput, Tony Sirimanna, Katherine Harrop-Griffiths, Shamima Rahman, Barbara Vona, Julia Doll, Thomas Haaf, Oliver Bartsch, Hendrik Rosewich, Tobias Moser & Maria Bitner-Glindzicz. (2018) The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. Human Genetics 137:2, pages 111-127.
Crossref
Crossref
Federica Cesca, Elisa Bettella, Roberta Polli, Elona Cama, Pietro Scimemi, Rosamaria Santarelli & Alessandra Murgia. (2018) A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members. International Journal of Pediatric Otorhinolaryngology 104, pages 88-93.
Crossref
Crossref
D. Baux, C. Vaché, C. Blanchet, M. Willems, C. Baudoin, M. Moclyn, V. Faugère, R. Touraine, B. Isidor, D. Dupin-Deguine, M. Nizon, M. Vincent, S. Mercier, C. Calais, G. García-García, Z. Azher, L. Lambert, Y. Perdomo-Trujillo, F. Giuliano, M. Claustres, M. Koenig, M. Mondain & A. F. Roux. (2017) Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. Scientific Reports 7:1.
Crossref
Crossref
Spencer LindseyCarmen Brewer, Olga Stakhovskaya, Hung Jeffrey Kim, Chris Zalewski, Joy Bryant, Kelly A. King, Jürgen K. Naggert, William A. Gahl, Jan D. Marshall & Meral Gunay-Aygun. (2017) Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients. American Journal of Medical Genetics Part A 173:8, pages 2210-2218.
Crossref
Crossref
Megan A. Brendal, Kelly A. King, Christopher K. Zalewski, Brenda M. Finucane, Wendy Introne, Carmen C. Brewer & Ann C. M. Smith. (2017) Auditory Phenotype of Smith–Magenis Syndrome. Journal of Speech, Language, and Hearing Research 60:4, pages 1076-1087.
Crossref
Crossref
S. Naz, A. Imtiaz, G. Mujtaba, A. Maqsood, R. Bashir, I. Bukhari, M.R. Khan, M. Ramzan, A. Fatima, A.U. Rehman, M. Iqbal, T. Chaudhry, M. Lund, C.C. Brewer, R.J. Morell & T.B. Friedman. (2017) Genetic causes of moderate to severe hearing loss point to modifiers. Clinical Genetics 91:4, pages 589-598.
Crossref
Crossref
Mieke Wesdorp, Jiddeke M. van de Kamp, Erik F. Hensen, Margit Schraders, Jaap Oostrik, Helger G. Yntema, Ilse Feenstra, Ronald J.C. Admiraal, Henricus P.M. Kunst, Mustafa Tekin, Moien Kanaan, Hannie Kremer & Ronald J.E. Pennings. (2017) Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment. Hearing Research 347, pages 56-62.
Crossref
Crossref
Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y Hehir-Kwa, Stefan H Lelieveld, Steven Castelein, Christian Gilissen, Ilse J de Wijs, Ronald JC Admiraal, Ronald JE Pennings, Henricus PM Kunst, Jiddeke M van de Kamp, Saskia Tamminga, Arjan C Houweling, Astrid S Plomp, Saskia M Maas, Pia AM de Koning Gans, Sarina G Kant, Christa M de Geus, Suzanna GM Frints, Els K Vanhoutte, Marieke F van Dooren, Marie- José H van den Boogaard, Hans Scheffer, Marcel Nelen, Hannie Kremer, Lies Hoefsloot, Margit Schraders & Helger G Yntema. (2016) The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. European Journal of Human Genetics 25:3, pages 308-314.
Crossref
Crossref
Yating Du, Lihui Huang, Xueyao Wang, Qingjia Cui, Xiaohua Cheng, Liping Zhao & Tingting Ni. (2017) Clinical data analysis of genotypes and phenotypes of deafness gene mutations in newborns: A retrospective study. BioScience Trends 11:4, pages 460-468.
Crossref
Crossref
Ruth Lang-Roth, Eva Fischer-Krall, Cornelia Kornblum, Gudrun Nürnberg, Dieter Meschede, Ingrid Goebel, Peter Nürnberg, Dirk Beutner, Christian Kubisch, Martin Walger & Alexander E. Volk. (2017) AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance. Audiology and Neurotology 22:1, pages 30-40.
Crossref
Crossref
John Patton, Carmen Brewer, Wade Chien, Jennifer J Johnston, Andrew J Griffith & Leslie G Biesecker. (2016) A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness. European Journal of Human Genetics 25:1, pages 147-149.
Crossref
Crossref
J.I. Lee, R.G. Yoon, J.H. Lee, J.W. Park, M.H. Yoo, J.H. Ahn, J.W. Chung & H.J. Park. (2016) Prognostic Value of Labyrinthine 3D-FLAIR Abnormalities in Idiopathic Sudden Sensorineural Hearing Loss. American Journal of Neuroradiology 37:12, pages 2317-2322.
Crossref
Crossref
Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J. Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer, Sandra Janssens, Kathleen Claes, Margriet Verstreken, Nicola Strenzke, Friederike Predöhl, Wim Wuyts, Geert Mortier, Maria Bitner-Glindzicz, Tobias Moser, Paul Coucke, Matthew J. Huentelman & Guy Van Camp. (2016) DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. Human Mutation 37:8, pages 812-819.
Crossref
Crossref
Barbara VonaStanislav LechnoMichaela A. H. HofrichterSusanne HopfAnne K. LäßigThomas HaafAnnerose KeilmannUlrich ZechnerOliver Bartsch. (2016) Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene. Ear & Hearing 37:4, pages e238-e246.
Crossref
Crossref
Ayesha Imtiaz, Azra Maqsood, Atteeq U. Rehman, Robert J. Morell, Jeffrey R. Holt, Thomas B. Friedman & Sadaf Naz. (2016) Recessive mutations of TMC1 associated with moderate to severe hearing loss. neurogenetics 17:2, pages 115-123.
Crossref
Crossref
Mariana Dória, Susana Fernandes & Carla Pinto Moura. (2016) Study of Met34Thr variant in nonsyndromic hearing loss in four Portuguese families. Porto Biomedical Journal 1:1, pages 32-35.
Crossref
Crossref
Yuji Nakamaru, Dai Takagi, Masanobu Suzuki, Aya Homma, Shinya Morita, Akihiro Homma & Satoshi Fukuda. (2016) Otologic and Rhinologic Manifestations of Eosinophilic Granulomatosis with Polyangiitis. Audiology and Neurotology 21:1, pages 45-53.
Crossref
Crossref
Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, Martin Ptok, Morag A Lewis, Holger Thiele, Susanne Morlot, Markus M Hess, Andreas Gal, Tobias Eisenberger, Carsten Bergmann, Gudrun Nürnberg, Peter Nürnberg, Karen P Steel, Marlies Knipper & Hanno Jörn Bolz. (2015) OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet Journal of Rare Diseases 10:1.
Crossref
Crossref
Mariana Dória, Ana Paula Neto, Ana Cristina Santos, Henrique Barros, Susana Fernandes & Carla Pinto Moura. (2015) Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples. International Journal of Pediatric Otorhinolaryngology 79:12, pages 2187-2190.
Crossref
Crossref
George M. Strain. (2015) The Genetics of Deafness in Domestic Animals. Frontiers in Veterinary Science 2.
Crossref
Crossref
Maria Amorini, Petronilla Romeo, Rocco Bruno, Francesco Galletti, Chiara Di Bella, Patrizia Longo, Silvana Briuglia, Carmelo Salpietro & Luciana Rigoli. (2015)
Prevalence of Deafness-Associated Connexin-26 (
GJB2
) and Connexin-30 (
GJB6
) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily
. Annals of Human Genetics 79:5, pages 341-349.
Crossref
Crossref
Jessica Ordóñez, Oscar Diaz-Horta & Mustafa Tekin. 2015. Rare Diseases. Rare Diseases
47
59
.
Christopher Beck, Jose Carmelo Pérez-Álvarez, Alexander Sigruener, Frank Haubner, Till Seidler, Charalampos Aslanidis, Jürgen Strutz & Gerd Schmitz. (2014) Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. European Archives of Oto-Rhino-Laryngology.
Crossref
Crossref
Yali Zhao, Dayong Wang, Liang Zong, Feifan Zhao, Liping Guan, Peng Zhang, Wei Shi, Lan Lan, Hongyang Wang, Qian Li, Bing Han, Ling Yang, Xin Jin, Jian Wang, Jun Wang & Qiuju Wang. (2014) A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family. PLoS ONE 9:5, pages e97064.
Crossref
Crossref
Reinhard Ramsebner, Martin Koenighofer, Thomas Parzefall, Trevor Lucas, Christian Schoefer & Klemens Frei. (2014) Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family. International Journal of Pediatric Otorhinolaryngology 78:5, pages 837-842.
Crossref
Crossref
Hsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, Kuo-Sheng Lee, Ming-Ren Chen, Hung-Ching Lin, Pao Chin Chiu, Dau-Ming Niu & Shuan-Pei Lin. (2014) Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses. Molecular Genetics and Metabolism 111:4, pages 533-538.
Crossref
Crossref
Ayako Nishio, Yoshihiro Noguchi, Tatsuya Sato, Taeko K. Naruse, Akinori Kimura, Akira Takagi & Ken Kitamura. (2014)
A
DFNA5
Mutation Identified in Japanese Families with Autosomal Dominant Hereditary Hearing Loss
. Annals of Human Genetics 78:2, pages 83-91.
Crossref
Crossref
Shinya Morita, Yuji Nakamaru, Nobuyuki Obara, Masayori Masuya & Satoshi Fukuda. (2014) Characteristics and Prognosis of Hearing Loss Associated with Vogt-Koyanagi-Harada Disease. Audiology and Neurotology 19:1, pages 49-56.
Crossref
Crossref
Doris Egli Gallo, Elham Khojasteh, Martina Gloor & Stefan C.A. Hegemann. (2013) Effectiveness of Systemic High-Dose Dexamethasone Therapy for Idiopathic Sudden Sensorineural Hearing Loss. Audiology and Neurotology 18:3, pages 161-170.
Crossref
Crossref
Mariam B. Totonchy, Deborah Tamura, Matthew S. Pantell, Christopher Zalewski, Porcia T. Bradford, Saumil N. Merchant, Joseph Nadol, Sikandar G. Khan, Raphael Schiffmann, Tyler Mark Pierson, Edythe Wiggs, Andrew J. Griffith, John J. DiGiovanna, Kenneth H. Kraemer & Carmen C. Brewer. (2013) Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration. Brain 136:1, pages 194-208.
Crossref
Crossref
C Abadie, C Blanchet, D Baux, L Larrieu, T Besnard, P Ravel, R Biboulet, C Hamel, S Malcolm, M Mondain, M Claustres & A‐F Roux. (2011) Audiological findings in 100 USH2 patients. Clinical Genetics 82:5, pages 433-438.
Crossref
Crossref
Annerose Keilmann, Todsaporn Nakarat, Iain A. Bruce, David Molter & Gunilla Malm. (2011) Hearing loss in patients with mucopolysaccharidosis II: Data from HOS – the Hunter Outcome Survey. Journal of Inherited Metabolic Disease 35:2, pages 343-353.
Crossref
Crossref
Kai-Chieh Chan, Pa-Chun Wang, Che-Ming Wu, Wan-Ling Ho & Fu-Sung Lo. (2012) Otologic and audiologic features of ethnic Chinese patients with Turner syndrome in Taiwan. Journal of the Formosan Medical Association 111:2, pages 94-100.
Crossref
Crossref
Elona Cama, Ingrid Inches, Enrico Muzzi, Orjona Sadushi, Rosamaria Santarelli, Wladimiro De Colle, Roberta Rossi, Francesco di Paola & Edoardo Arslan. (2012) Temporal Bone High-Resolution Computed Tomography in Non-Syndromic Unilateral Hearing Loss in Children. ORL 74:2, pages 70-77.
Crossref
Crossref
Neda Ahmadi, Carmen C. Brewer, Christopher Zalewski, Kelly A. King, John A. Butman, Nicole Plass, Cailin Henderson, Raphaela Goldbach‐Mansky & H. Jeffrey Kim. (2011) Cryopyrin‐Associated Periodic Syndromes. Otolaryngology–Head and Neck Surgery 145:2, pages 295-302.
Crossref
Crossref
Jianning ZhangZhengmin WangWenjia DaiYongmei ZengHuawei Li. (2011) GJB2 Allele Variants and the Associated Audiologic Features Identified in Chinese Patients with Less Severe Idiopathic Hearing Loss. Genetic Testing and Molecular Biomarkers 15:5, pages 313-318.
Crossref
Crossref
Şefika Körpinar, Zeynep Alkan, Özgür Yiğit, Ayşe Pelin Gör, Akin Savaş Toklu, Burak Çakir, Özlem Gedik Soyuyüce & Haluk Özkul. (2010) Factors influencing the outcome of idiopathic sudden sensorineural hearing loss treated with hyperbaric oxygen therapy. European Archives of Oto-Rhino-Laryngology 268:1, pages 41-47.
Crossref
Crossref
Jiann-Jou Yang, Wen-Hung Wang, Yen-Chun Lin, Hsu-Huei Weng, Jen-Tsung Yang, Chung-Feng Hwang, Che-Min Wu & Shuan-Yow Li. (2010) Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation. Human Genetics 128:3, pages 303-313.
Crossref
Crossref
Elona Cama, Maria Stella Alemanno, Emanuele Bellacchio, Rosamaria Santarelli, Massimo Carella, Leopoldo Zelante, Teresa Palladino, Ingrid Inches, Francesco di Paola, Edoardo Arslan & Salvatore Melchionda. (2009) Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss. International Journal of Pediatric Otorhinolaryngology 73:10, pages 1458-1463.
Crossref
Crossref
Anne-Martine R. de Heer, Patrick L. M. Huygen, Rob W. J. Collin, Jaap Oostrik, Hannie Kremer & W. R. J. Cremers. (2009)
Audiometric and Vestibular Features in a Second Dutch DFNA20/26 Family with a Novel Mutation in
ACTG1
. Annals of Otology, Rhinology & Laryngology 118:5, pages 382-390.
Crossref
Crossref
Maria Stella Alemanno, Elona Cama, Rosamaria Santarelli, Massimo Carella, Leopoldo Zelante, Luisa Toffolatti, Teresa Palladino, Salvatore Melchionda & Edoardo Arslan. (2009) A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family. International Journal of Pediatric Otorhinolaryngology 73:1, pages 127-131.
Crossref
Crossref
Ljiljana Čvorović, Dragoslava Đeric, Rudolf Probst & Stefan Hegemann. (2008) Prognostic Model for Predicting Hearing Recovery in Idiopathic Sudden Sensorineural Hearing Loss. Otology & Neurotology 29:4, pages 464-469.
Crossref
Crossref
Lucia C. Fry, Michael Bellutti, Helmut Neumann, Peter Malfertheiner & Klaus Mönkemüller. (2008) Utility of Double-Balloon Enteroscopy for the Evaluation of Malabsorption. Digestive Diseases 26:2, pages 134-139.
Crossref
Crossref
Kelly A. King, Tomoko Makishima, Christopher K. Zalewski, Vladimir K. Bakalov, Andrew J. Griffith, Carolyn A. Bondy & Carmen C. Brewer. (2007) Analysis of Auditory Phenotype and Karyotype in 200 Females with Turner Syndrome. Ear & Hearing 28:6, pages 831-841.
Crossref
Crossref
Noriko Morimoto, Toshiaki Tanaka, Hidenobu Taiji, Reiko Horikawa, Yasuhiro Naiki, Yuji Morimoto & Nobuko Kawashiro. (2006) Hearing loss in Turner syndrome. The Journal of Pediatrics 149:5, pages 697-701.e3.
Crossref
Crossref
Burcu Öztürk Hişmi, Suna Tokgöz Yılmaz, Armağan İncesulu & Mustafa Tekin. (2006) Effects of GJB2 genotypes on the audiological phenotype: Variability is present for all genotypes. International Journal of Pediatric Otorhinolaryngology 70:10, pages 1687-1694.
Crossref
Crossref
S. Hegemann, D. Hajioff, G. Conti, M. Beck, G. Sunder-Plassmann, U. Widmer, A. Mehta & A. Keilmann. (2006) Hearing loss in Fabry disease: data from the Fabry Outcome Survey. European Journal of Clinical Investigation 36:9, pages 654-662.
Crossref
Crossref
Massimiliano Bicego, Martina Beltramello, Salvatore Melchionda, Massimo Carella, Valeria Piazza, Leopoldo Zelante, Feliksas F. Bukauskas, Edoardo Arslan, Elona Cama, Sergio Pantano, Roberto Bruzzone, Paola D'Andrea & Fabio Mammano. (2006) Pathogenetic role of the deafness-related M34T mutation of Cx26. Human Molecular Genetics 15:17, pages 2569-2587.
Crossref
Crossref
Regie Lyn P. Santos, Yurii S. Aulchenko, Patrick L.M. Huygen, Kim P. van der Donk, Ilse J. de Wijs, Martijn H. Kemperman, Ronald J.C. Admiraal, Hannie Kremer, Lies H. Hoefsloot & Cor W.R.J. Cremers. (2005) Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. International Journal of Pediatric Otorhinolaryngology 69:2, pages 165-174.
Crossref
Crossref
M. Mazzoli, V. Newton, A. Murgia, M. Bitner-Glindzicz, P. Gasparini, A. Read & A. Parving. (2004) Guidelines and recommendations for testing of Cx26 mutations and interpretation of results. International Journal of Pediatric Otorhinolaryngology 68:11, pages 1397-1398.
Crossref
Crossref