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Select item 17159821.

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.

M R Brown, M S Tomek, L Van Laer, S Smith, J B Kenyon, G Van Camp, R J Smith

Am J Hum Genet. 1997 Oct; 61(4): 924–927. doi: 10.1086/514892

PMCID:: PMC1715982

Summary Page Browse PDF–921K

Select item 39992582.

Anne M.M. Oonk, Joop M. Leijendeckers, Patrick L.M. Huygen, Margit Schraders, Miguel del Campo, Ignacio del Castillo, Mustafa Tekin, Ilse Feenstra, Andy J. Beynon, Henricus P.M. Kunst, Ad F.M. Snik, Hannie Kremer, Ronald J.C. Admiraal, Ronald J.E. Pennings

Ear Hear. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Ear Hear. 2014 May-Jun; 35(3): e84–e91. doi: 10.1097/AUD.0000000000000008

PMCID:: PMC3999258

Article PDF–869K

Select item 25384173.

Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family

Rutger F. Plantinga, Cor W.R.J. Cremers, Patrick L.M. Huygen, Henricus P.M. Kunst, Arjan J. Bosman

J Assoc Res Otolaryngol. 2007 Mar; 8(1): 1–7. Published online 2006 Nov 30. doi: 10.1007/s10162-006-0060-9

PMCID:: PMC2538417

Article PDF–311K

Select item 17572494.

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3

R Snoeckx, H Kremer, R Ensink, K Flothmann, A de Brouwer, R Smith, C Cremers, G Van Camp

J Med Genet. 2004 Jan; 41(1): 11–13. doi: 10.1136/jmg.2003.010702

PMCID:: PMC1757249

Summary PDF–153K

Select item 17359255.

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

W Chen, K Kahrizi, N Meyer, Y Riazalhosseini, G Van Camp, H Najmabadi, R Smith

J Med Genet. 2005 Oct; 42(10): e61. doi: 10.1136/jmg.2005.032615

PMCID:: PMC1735925

Summary PDF–271K

Select item 104543566.

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Francesca Peluso, Maria Chiara Baroni, Valeria Polizzi, Manuela Napoli, Simonetta Rosato, Gabriele Trimarchi, Chiara Gelmini, Stefano Giuseppe Caraffi, Anita Wischmeijer, Daniele Frattini, Antonio Novelli, Livia Garavelli

Genes (Basel) 2023 Aug; 14(8): 1526. Published online 2023 Jul 26. doi: 10.3390/genes14081526

PMCID:: PMC10454356

Article PDF–2.2M

Select item 104006277.

Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects

Sang-Yeon Lee, Min Young Kim, Jin Hee Han, Sang Soo Park, Yejin Yun, Seung-Cheol Jee, Jae Joon Han, Jun Ho Lee, Heeyoung Seok, Byung Yoon Choi

Sci Rep. 2023; 13: 12584. Published online 2023 Aug 3. doi: 10.1038/s41598-023-38272-w

PMCID:: PMC10400627

Article PDF–2.5M

Select item 103619708.

Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea

Somin Lee, Yejin Yun, Ju Hyuen Cha, Jin Hee Han, Dae Hee Lee, Jae-Jin Song, Moo Kyun Park, Jun Ho Lee, Seung Ha Oh, Byung Yoon Choi, Sang-Yeon Lee

Sci Rep. 2023; 13: 11776. Published online 2023 Jul 21. doi: 10.1038/s41598-023-38909-w

PMCID:: PMC10361970

Article PDF–2.6M

Select item 97779979.

New Insights into the Identity of the DFNA58 Gene

Larissa Reis do Nascimento, Gleiciele Alice Vieira-Silva, João Paulo Fumio Whitaker Kitajima, Ana Carla Batissoco, Karina Lezirovitz

Genes (Basel) 2022 Dec; 13(12): 2274. Published online 2022 Dec 2. doi: 10.3390/genes13122274

PMCID:: PMC9777997

Article PDF–8.2M

Select item 967485510.

Deletion of the Notch ligand Jagged1 during cochlear maturation leads to inner hair cell defects and hearing loss

Felicia A. Gilels, Jun Wang, Anwen Bullen, Patricia M. White, Amy E. Kiernan

Cell Death Dis. 2022 Nov; 13(11): 971. Published online 2022 Nov 18. doi: 10.1038/s41419-022-05380-w

PMCID:: PMC9674855

Article PDF–4.2M

Select item 958314611.

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies

Chiara Moltrasio, Maurizio Romagnuolo, Angelo Valerio Marzano

Front Immunol. 2022; 13: 1007705. Published online 2022 Oct 6. doi: 10.3389/fimmu.2022.1007705

PMCID:: PMC9583146

Article PDF–1.3M

Select item 952697712.

From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome – case report

Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina, Donatella Milani

Ital J Pediatr. 2022; 48: 177. Published online 2022 Oct 1. doi: 10.1186/s13052-022-01369-5

PMCID:: PMC9526977

Article PDF–1014K

Select item 933424613.

A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome

Ryosuke Saiki, Kan Katayama, Masako Kitano, Kayo Tsujimoto, Fumika Tanaka, Yasuo Suzuki, Tomohiro Murata, Tairo Kurita, Ryuji Okamoto, Kazuhiko Takeuchi, Kaoru Dohi

Intern Med. 2022 Jul 1; 61(13): 2033–2038. Published online 2021 Dec 4. doi: 10.2169/internalmedicine.8508-21

PMCID:: PMC9334246

Article PDF–1.2M

Select item 930435714.

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss

So Young Kim, Bong Jik Kim, Doo Yi Oh, Jin Hee Han, Nayoung Yi, Namju Justin Kim, Moo Kyun Park, Changwon Keum, Go Hun Seo, Byung Yoon Choi

Sci Rep. 2022; 12: 12457. Published online 2022 Jul 21. doi: 10.1038/s41598-022-16661-x

PMCID:: PMC9304357

Article PDF–1.2M

Select item 922274315.

Dominant Stickler Syndrome

Zack Soh, Allan J. Richards, Annie McNinch, Philip Alexander, Howard Martin, Martin P. Snead

Genes (Basel) 2022 Jun; 13(6): 1089. Published online 2022 Jun 18. doi: 10.3390/genes13061089

PMCID:: PMC9222743

Article PDF–3.2M

Select item 920458916.

Hearing Loss as the Main Clinical Presentation in NLRP3-Associated Autoinflammatory Disease

Dominika Oziębło, Marcin L. Leja, Aldona Jeznach, Magdalena Orzechowska, Tomasz Skirecki, Ewa Więsik-Szewczyk, Mariusz Furmanek, Natalia Bałdyga, Henryk Skarżyński, Monika Ołdak

Front Immunol. 2022; 13: 904632. Published online 2022 May 26. doi: 10.3389/fimmu.2022.904632

PMCID:: PMC9204589

Article PDF–6.6M

Select item 914132417.

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants

Manuela Priolo, Cecilia Mancini, Simone Pizzi, Luigi Chiriatti, Francesca Clementina Radio, Viviana Cordeddu, Letizia Pintomalli, Corrado Mammì, Bruno Dallapiccola, Marco Tartaglia

Genes (Basel) 2022 May; 13(5): 889. Published online 2022 May 16. doi: 10.3390/genes13050889

PMCID:: PMC9141324

Article PDF–700K

Select item 853594018.

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants

Ken Hiramatsu, Shin-ya Nishio, Shin-ichiro Kitajiri, Tomohiro Kitano, Hideaki Moteki, Shin-ichi Usami, on behalf of the Deafness Gene Study Consortium

Genes (Basel) 2021 Oct; 12(10): 1623. Published online 2021 Oct 15. doi: 10.3390/genes12101623

PMCID:: PMC8535940

Article PDF–1.1M

Select item 788429519.

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

Leonardo Colombo, Paolo E. Maltese, Marco Castori, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, Paolo Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti

Invest Ophthalmol Vis Sci. 2021 Feb; 62(2): 13. Published online 2021 Feb 12. doi: 10.1167/iovs.62.2.13

PMCID:: PMC7884295

Article PDF–1.2M

Select item 782311120.

NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss

R Salazar-Silva, Vitor Lima Goes Dantas, Leandro Ucela Alves, Ana Carla Batissoco, Jeanne Oiticica, Elizabeth A Lawrence, Abdelwahab Kawafi, Yushi Yang, Fernanda Stávale Nicastro, Beatriz Caiuby Novaes, Chrissy Hammond, Erika Kague, R C Mingroni-Netto

Hum Mol Genet. 2020 Nov 15; 29(22): 3691–3705. Published online 2020 Dec 17. doi: 10.1093/hmg/ddaa240