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Select item 111562061.

Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

Bela Parekh, Jacque L. Duncan, Lassana Samarakoon, Michele Melia, Maria Fernanda Abalem, Chris A. Andrews, Isabelle Audo, Allison R. Ayala, Chris Bradley, Janet K. Cheetham, Gislin Dagnelie, Todd A. Durham, Rachel M. Huckfeldt, Gabrielle D. Lacy, Brett Malbin, Michel Michaelides, David C. Musch, Nicholas Peck-Dimit, Katarina Stingl, Christina Y. Weng, Alex Z. Zmejkoski, K. Thiran Jayasundera, for the Foundation Fighting Blindness Clinical Consortium Investigator Group

Invest Ophthalmol Vis Sci. 2024 Jun; 65(6): 5. Published online 2024 Jun 4. doi: 10.1167/iovs.65.6.5

PMCID:: PMC11156206

Abstract Article PDF–929K

Select item 94400422.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

Nanna Dahl Rendtorff, Helena Gásdal Karstensen, Marianne Lodahl, John Tolmie, Catherine McWilliam, Mads Bak, Niels Tommerup, Lusine Nazaryan-Petersen, Henricus Kunst, Melanie Wong, Shelagh Joss, Valerio Carelli, Lisbeth Tranebjærg

Sci Rep. 2022; 12: 14959. Published online 2022 Sep 2. doi: 10.1038/s41598-022-18040-y

PMCID:: PMC9440042

Abstract Article PDF–1.7M

Select item 93057663.

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

Saskia Koene, Jeroen Knijnenburg, Mariette J. V. Hoffer, Fleur Zwanenburg, Monique C. Haak, Heiko Locher, Edward S. A. van Beelen, Gijs W. E. Santen, Liselotte J. C. Rotteveel

Am J Med Genet A. 2022 May; 188(5): 1578–1582. Published online 2022 Jan 27. doi: 10.1002/ajmg.a.62669

PMCID:: PMC9305766

Abstract Article PDF–689K

Select item 92593004.

A Novel PRPS1 Mutation in a Japanese Patient with CMTX5

Shunichi Shirakawa, Tatsufumi Murakami, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Hasegawa, Kimiyoshi Ichida, Yoshihide Sunada

Intern Med. 2022 Jun 1; 61(11): 1749–1751. Published online 2021 Nov 20. doi: 10.2169/internalmedicine.8029-21

PMCID:: PMC9259300

Abstract Article PDF–157K

Select item 90275135.

Connexin Mutations and Hereditary Diseases

Yue Qiu, Jianglin Zheng, Sen Chen, Yu Sun

Int J Mol Sci. 2022 Apr; 23(8): 4255. Published online 2022 Apr 12. doi: 10.3390/ijms23084255

PMCID:: PMC9027513

Abstract Article PDF–1.6M

Select item 90070946.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159

PMCID:: PMC9007094

Abstract Article PDF–1.3M

Select item 88623117.

Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III

Ying Chen, Jiajun Qiu, Yingwei Wu, Huan Jia, Yi Jiang, Mengda Jiang, Zhili Wang, Hai-Bin Sheng, Lingxiang Hu, Zhihua Zhang, Zhaoyan Wang, Yun Li, Zhiwu Huang, Hao Wu

Orphanet J Rare Dis. 2022; 17: 65. Published online 2022 Feb 21. doi: 10.1186/s13023-022-02235-7

PMCID:: PMC8862311

Abstract Article PDF–1.3M

Select item 86942648.

X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4

Henrik Smeds, Jeremy Wales, Eva Karltorp, Britt-Marie Anderlid, Cecilia Henricson, Filip Asp, Lena Anmyr, Kristina Lagerstedt-Robinson, Ulrika Löfkvist

Ear Hear. 2022 Jan-Feb; 43(1): 53–69. Published online 2021 Jun 15. doi: 10.1097/AUD.0000000000001073

PMCID:: PMC8694264

Abstract Article PDF–851K

Select item 85959319.

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Irit Hochberg, Leigh A.M. Demain, Julie Richer, Kyle Thompson, Jill E. Urquhart, Alessandro Rea, Waheeda Pagarkar, Agustí Rodríguez-Palmero, Agatha Schlüter, Edgard Verdura, Aurora Pujol, Pilar Quijada-Fraile, Albert Amberger, Andrea J. Deutschmann, Sandra Demetz, Meredith Gillespie, Inna A. Belyantseva, Hugh J. McMillan, Melanie Barzik, Glenda M. Beaman, Reeya Motha, Kah Ying Ng, James O’Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Isabella R. Lawrence, Emma M. Jenkinson, Jessica L. Zambonin, Zeev Blumenfeld, Sergey Yalonetsky, Stephanie Oerum, Walter Rossmanith, Genomics England Research Consortium, Wyatt W. Yue, Johannes Zschocke, Kevin J. Munro, Brendan J. Battersby, Thomas B. Friedman, Robert W. Taylor, Raymond T. O’Keefe, William G. Newman

Am J Hum Genet. 2021 Nov 4; 108(11): 2195–2204. Published online 2021 Oct 28. doi: 10.1016/j.ajhg.2021.10.002

PMCID:: PMC8595931

Abstract Article PDF–1.3M

Select item 839134210.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino

Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277

PMCID:: PMC8391342

Abstract Article PDF–1.2M

Select item 793155911.

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

Ja Hye Kim, Yena Lee, Yunha Choi, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

BMC Pediatr. 2021; 21: 108. Published online 2021 Mar 4. doi: 10.1186/s12887-021-02575-6

PMCID:: PMC7931559

Abstract Article PDF–698K

Select item 788429512.

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

Abstract Article PDF–1.2M

Select item 672593113.

Ectopic Norrin Induces Growth of Ocular Capillaries and Restores Normal Retinal Angiogenesis in Norrie Disease Mutant Mice

Andreas Ohlmann, Michael Scholz, Andreas Goldwich, Bharesh K. Chauhan, Kristiane Hudl, Anne V. Ohlmann, Eberhart Zrenner, Wolfgang Berger, Aleš Cvekl, Mathias W. Seeliger, Ernst R. Tamm

J Neurosci. 2005 Feb 16; 25(7): 1701–1710. doi: 10.1523/JNEUROSCI.4756-04.2005

PMCID:: PMC6725931

Abstract Article PDF–788K

Select item 650704014.

Pathogenic Variants in GPC4 Cause Keipert Syndrome

David J. Amor, Sarah E.M. Stephenson, Mirna Mustapha, Martin A. Mensah, Charlotte W. Ockeloen, Wei Shern Lee, Rick M. Tankard, Dean G. Phelan, Marwan Shinawi, Arjan P.M. de Brouwer, Rolph Pfundt, Cari Dowling, Tomi L. Toler, V. Reid Sutton, Emanuele Agolini, Martina Rinelli, Rossella Capolino, Diego Martinelli, Giuseppe Zampino, Miroslav Dumić, William Reardon, Charles Shaw-Smith, Richard J. Leventer, Martin B. Delatycki, Tjitske Kleefstra, Stefan Mundlos, Geert Mortier, Melanie Bahlo, Nicola J. Allen, Paul J. Lockhart

Am J Hum Genet. 2019 May 2; 104(5): 914–924. Published online 2019 Apr 11. doi: 10.1016/j.ajhg.2019.02.026

PMCID:: PMC6507040

Abstract Article PDF–1.6M

Select item 645099615.

A family case of X-linked Alport syndrome patients with a novel variant in COL4A5

Yasuyo Kashiwagi, Shinji Suzuki, Kazushi Agata, Yasuyuki Morishima, Natsuko Inagaki, Hironao Numabe, Hisashi Kawashima

CEN Case Rep. 2019 May; 8(2): 75–78. Published online 2018 Oct 6. doi: 10.1007/s13730-018-0368-4

PMCID:: PMC6450996

Abstract Article PDF–1.1M

Select item 630389516.

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

Xiao Zhang, Yanqin Zhang, Yanmei Zhang, Hongbo Gu, Zhe Chen, Lei Ren, Xingxing Lu, Li Chen, Fang Wang, Yuhe Liu, Jie Ding

Orphanet J Rare Dis. 2018; 13: 229. Published online 2018 Dec 22. doi: 10.1186/s13023-018-0974-4

PMCID:: PMC6303895

Abstract Article PDF–969K

Select item 618113617.

Hereditäre Schwerhörigkeit in der Türkei

F. Apaydin, M. Pfister, M. Iber, T. Kandogan, S.M. Leal, U. Brändle, O. Cura, H.P Zenner

HNO. Author manuscript; available in PMC 2018 Oct 11.German.

Published in final edited form as: HNO. 1998 Sep; 46(9): 809–814. doi: 10.1007/s001060050317

PMCID:: PMC6181136

Abstract Article PDF–643K

Select item 612274218.

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families

Yu Su, Xue Gao, Sha-Sha Huang, Jing-Ning Mao, Bang-Qing Huang, Jian-Dong Zhao, Dong-Yang Kang, Xin Zhang, Pu Dai

BMC Med Genet. 2018; 19: 157. Published online 2018 Sep 4. doi: 10.1186/s12881-018-0630-9

PMCID:: PMC6122742

Abstract Article PDF–1.5M

Select item 607618819.

Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report

Heng Xie, Li Xue, Wei Hua, Bangsheng Jia, Liang Zhang, Li Li

Medicine (Baltimore) 2018 Jul; 97(28): e11283. Published online 2018 Jul 13. doi: 10.1097/MD.0000000000011283

PMCID:: PMC6076188

Abstract Article PDF–880K

Select item 544482520.

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang

PLoS One. 2017; 12(5): e0178384. Published online 2017 May 25. doi: 10.1371/journal.pone.0178384

PMCID:: PMC5444825

Abstract Article PDF–1.5M

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