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Items: 1 to 20 of 40

1.
Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness
Yuan Lv, Jia Gu, Hao Qiu, Huan Li, Zhitao Zhang, Shaowei Yin, Yan Mao, Lingyin Kong, Bo Liang, Hongkun Jiang, Caixia Liu
Mol Genet Genomic Med. 2019 Nov; 7(11): e967. Published online 2019 Sep 3. doi: 10.1002/mgg3.967
PMCID:
PMC6825843
AbstractArticlePDF–1.3M
2.
Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss
Antje K. Huebner, Marta Gandia, Peter Frommolt, Anika Maak, Eva M. Wicklein, Holger Thiele, Janine Altmüller, Florian Wagner, Antonio Viñuela, Luis A. Aguirre, Felipe Moreno, Hannes Maier, Isabella Rau, Sebastian Gießelmann, Gudrun Nürnberg, Andreas Gal, Peter Nürnberg, Christian A. Hübner, Ignacio del Castillo, Ingo Kurth
Am J Hum Genet. 2011 May 13; 88(5): 621–627. doi: 10.1016/j.ajhg.2011.04.007
PMCID:
PMC3146719
AbstractArticlePDF–802K
3.
Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
Margit Schraders, Stefan A. Haas, Nicole J.D. Weegerink, Jaap Oostrik, Hao Hu, Lies H. Hoefsloot, Sriram Kannan, Patrick L.M. Huygen, Ronald J.E. Pennings, Ronald J.C. Admiraal, Vera M. Kalscheuer, Henricus P.M. Kunst, Hannie Kremer
Am J Hum Genet. 2011 May 13; 88(5): 628–634. doi: 10.1016/j.ajhg.2011.04.012
PMCID:
PMC3146715
AbstractArticlePDF–587K
4.
A novel missense mutation in SMPX causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family
Yingyuan Guo, Yanru Hao, Dejun Zhang, Hongen Xu, Duojiao Yu, Jingmao Lv, Zeming Fu, Shuang Han, Fang Guo, Jie Bai, Guofang Guan
Transl Pediatr. 2021 Feb; 10(2): 378–387. doi: 10.21037/tp-20-435
PMCID:
PMC7944167
AbstractArticlePDF–1.7M
5.
X-Linked Sensorineural Hearing Loss: A Literature Review
Virginia Corvino, Pasqualina Apisa, Rita Malesci, Carla Laria, Gennaro Auletta, Annamaria Franzé
Curr Genomics. 2018 Aug; 19(5): 327–338. Published online 2018 Aug. doi: 10.2174/1389202919666171218163046
PMCID:
PMC6030855
AbstractArticlePDF–517K
6.
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
Josefin Johansson, Sarah Lidéus, Carina Frykholm, Cecilia Gunnarsson, Filip Mihalic, Sanna Gudmundsson, Sara Ekvall, Anna-Maja Molin, Mai Pham, Mauno Vihinen, Kristina Lagerstedt-Robinson, Ann Nordgren, Per Jemth, Adam Ameur, Göran Annerén, Maria Wilbe, Marie-Louise Bondeson
Eur J Hum Genet. 2024 Mar; 32(3): 333–341. Published online 2023 Jun 5. doi: 10.1038/s41431-023-01392-y
PMCID:
PMC10923852
AbstractArticlePDF–2.0M
7.
Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients
A. Bosman, N. M. Appelman-Dijkstra, A. M. Boot, M. H. de Borst, A. C. van de Ven, R. T. de Jongh, A. Bökenkamp, J. P. van den Bergh, B. C. J. van der Eerden, M. C. Zillikens
Calcif Tissue Int. 2024; 114(3): 255–266. Published online 2024 Jan 16. doi: 10.1007/s00223-023-01172-2
PMCID:
PMC10901935
AbstractArticlePDF–698K
8.
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
AbstractArticlePDF–1.3M
9.
Molecular genetics of inherited retinal degenerations in Icelandic patients
Daniel A. Thorsteinsson, Vigdis Stefansdottir, Thor Eysteinsson, Sigridur Thorisdottir, Jon J. Jonsson
Clin Genet. 2021 Aug; 100(2): 156–167. Published online 2021 May 7. doi: 10.1111/cge.13967
PMCID:
PMC8360171
AbstractArticlePDF–1.3M
10.
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
AbstractArticlePDF–3.2M
11.
Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review
Wen-yu Gong, Fan-na Liu, Liang-hong Yin, Jun Zhang
Biomed Res Int. 2021; 2021: 6664973. Published online 2021 Mar 2. doi: 10.1155/2021/6664973
PMCID:
PMC7943288
AbstractArticlePDF–2.0M
12.
Long term outcome among females with Alport syndrome from a single pediatric center
Selasie Goka, Lawrence Copelovitch, Daniella Levy Erez
Pediatr Nephrol. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: Pediatr Nephrol. 2021 Apr; 36(4): 945–951. Published online 2020 Oct 13. doi: 10.1007/s00467-020-04748-4
PMCID:
PMC7914153
AbstractArticlePDF–323K
13.
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
AbstractArticlePDF–1.2M
14.
Autosomal Recessive Alport Syndrome Unveiled by Pregnancy
Erika R. Drury, Isaac E. Stillman, Martin R Pollak, Bradley M. Denker
Nephron. Author manuscript; available in PMC 2020 Aug 13.
Published in final edited form as: Nephron. 2019; 143(4): 288–292. Published online 2019 Aug 13. doi: 10.1159/000502147
PMCID:
PMC7082947
AbstractArticlePDF–673K
15.
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
AbstractArticlePDF–1.6M
16.
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
AbstractArticlePDF–1.1M
17.
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases
Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani
PLoS One. 2018; 13(10): e0205298. Published online 2018 Oct 5. doi: 10.1371/journal.pone.0205298
PMCID:
PMC6173455
AbstractArticlePDF–1.5M
18.
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
AbstractArticlePDF–1.5M
19.
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos
BMC Med Genomics. 2018; 11: 58. Published online 2018 Jul 9. doi: 10.1186/s12920-018-0375-5
PMCID:
PMC6038346
AbstractArticlePDF–964K
20.
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
Noriko Miyake, Nicole I. Wolf, Ferdy K. Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J. Bent, Karen W. Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R. Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J. Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J. Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A. Neubauer, Cas Simons, Adeline Vanderver
Neurogenetics. 2017; 18(4): 185–194. Published online 2017 Aug 26. doi: 10.1007/s10048-017-0520-x
PMCID:
PMC5705759
AbstractArticlePDF–4.2M

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