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Items: 1 to 20 of 29

1.
The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)
Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova, Nikolay A. Barashkov
Genes (Basel) 2023 May; 14(5): 1001. Published online 2023 Apr 28. doi: 10.3390/genes14051001
PMCID:
PMC10218609
AbstractArticlePDF–2.1M
2.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing
HGG Adv. 2023 Apr 13; 4(2): 100181. Published online 2023 Jan 18. doi: 10.1016/j.xhgg.2023.100181
PMCID:
PMC9918427
AbstractArticlePDF–1.9M
3.
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
Khurram Liaqat, Shabir Hussain, Muhammad Bilal, Abdul Nasir, Anushree Acharya, Raja Hussain Ali, Shoaib Nawaz, Muhammad Umair, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
J Hum Genet. 2020; 65(2): 187–192. Published online 2019 Oct 28. doi: 10.1038/s10038-019-0691-4
Correction in:
J Hum Genet. 2022; 67(3): 181.
PMCID:
PMC8216908
AbstractArticlePDF–1007K
4.
‘H-syndrome’: a multisystem genetic disorder with cutaneous clues
Krishna Shantilal Mori, Karthik Balachandran, Adyne Reena Asirvatham, Shriraam Mahadevan
BMJ Case Rep. 2021; 14(5): e238973. Published online 2021 May 4. doi: 10.1136/bcr-2020-238973
PMCID:
PMC8098951
AbstractArticlePDF–463K
5.
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi
Mol Genet Genomic Med. 2020 Dec; 8(12): e1550. Published online 2020 Nov 18. doi: 10.1002/mgg3.1550
PMCID:
PMC7767568
AbstractArticlePDF–1.9M
6.
Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana
Samuel M. Adadey, Edmond Tingang Wonkam, Elvis Twumasi Aboagye, Darius Quansah, Adwoa Asante-Poku, Osbourne Quaye, Geoffrey K. Amedofu, Gordon A. Awandare, Ambroise Wonkam
Genes (Basel) 2020 Feb; 11(2): 132. Published online 2020 Jan 27. doi: 10.3390/genes11020132
PMCID:
PMC7074138
AbstractArticlePDF–1.8M
7.
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Kaitian Chen, Xuan Wu, Ling Zong, Hongyan Jiang
J Clin Lab Anal. 2018 Nov; 32(9): e22592. Published online 2018 Jun 21. doi: 10.1002/jcla.22592
PMCID:
PMC6817113
AbstractArticlePDF–625K
8.
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry
Imen Chakchouk, Di Zhang, Zhihui Zhang, Laurent C. Francioli, Regie Lyn P. Santos-Cortez, Isabelle Schrauwen, Suzanne M. Leal
Eur J Hum Genet. 2019 Sep; 27(9): 1456–1465. Published online 2019 May 3. doi: 10.1038/s41431-019-0417-2
PMCID:
PMC6777454
AbstractArticlePDF–1.1M
9.
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
María Domínguez-Ruiz, Alberto García-Martínez, Marc Corral-Juan, Ángel I. Pérez-Álvarez, Ana M. Plasencia, Manuela Villamar, Miguel A. Moreno-Pelayo, Antoni Matilla-Dueñas, Manuel Menéndez-González, Ignacio del Castillo
J Transl Med. 2019; 17: 290. Published online 2019 Aug 28. doi: 10.1186/s12967-019-2041-x
PMCID:
PMC6712801
AbstractArticlePDF–1.6M
10.
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report
Xin Li, Qing Cheng, Yu Ding, Qun Li, Ruen Yao, Jian Wang, Xiumin Wang
BMC Pediatr. 2019; 19: 233. Published online 2019 Jul 11. doi: 10.1186/s12887-019-1608-2
PMCID:
PMC6625038
AbstractArticlePDF–1.2M
11.
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov'ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova
ScientificWorldJournal. 2019; 2019: 5198931. Published online 2019 Mar 20. doi: 10.1155/2019/5198931
PMCID:
PMC6446107
AbstractArticlePDF–1.1M
12.
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families
Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M. Millán, Carmen Ayuso
PLoS One. 2018; 13(6): e0199048. Published online 2018 Jun 18. doi: 10.1371/journal.pone.0199048
PMCID:
PMC6005481
AbstractArticlePDF–2.7M
13.
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse
Rizwan Yousaf, Chunfang Gu, Zubair M. Ahmed, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Stephen B. Shears, Saima Riazuddin
PLoS Genet. 2018 Mar; 14(3): e1007297. Published online 2018 Mar 28. doi: 10.1371/journal.pgen.1007297
PMCID:
PMC5891075
AbstractArticlePDF–9.4M
14.
H syndrome: 5 new cases from the United States with novel features and responses to therapy
Jessica L. Bloom, Clara Lin, Lisa Imundo, Stephen Guthery, Shelly Stepenaskie, Csaba Galambos, Amy Lowichik, John F. Bohnsack
Pediatr Rheumatol Online J. 2017; 15: 76. Published online 2017 Oct 17. doi: 10.1186/s12969-017-0204-y
PMCID:
PMC5645937
AbstractArticlePDF–1.2M
15.
Connexin 26 Gene Mutations in Non-Syndromic Hearing Loss Among Kuwaiti Patients
Khalid Al-Sebeih, Marium Al-Kandari, Sadika A. Al-Awadi, Fatma F. Hegazy, Ghada A. Al-Khamees, Kamal K. Naguib, Reem M. Al-Dabbous
Med Princ Pract. 2013 Dec; 23(1): 74–79. Published online 2013 Sep 26. doi: 10.1159/000348304
PMCID:
PMC5586821
AbstractArticlePDF–162K
16.
Novel function of LHFPL2 in female and male distal reproductive tract development
Fei Zhao, Jun Zhou, Rong Li, Elizabeth A. Dudley, Xiaoqin Ye
Sci Rep. 2016; 6: 23037. Published online 2016 Mar 11. doi: 10.1038/srep23037
PMCID:
PMC4786858
AbstractArticlePDF–2.0M
17.
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at locus DFNA36-DFNB7/11: Four novel TMC1 mutations
Nele Hilgert, Fatemeh Alasti, Nele Dieltjens, Barbara Pawlik, Bernd Wollnik, Oya Uyguner, Sedigheh Delmaghani, Dominique Weil, Christine Petit, Evi Danis, Tao Yang, Efthimia Pandelia, Michael B. Petersen, Dirk Goossens, Jurgen Del Favero, Mohammad Hossein Sanati, Richard JH Smith, Guy Van Camp
Clin Genet. Author manuscript; available in PMC 2016 Jan 29.
Published in final edited form as: Clin Genet. 2008 Sep; 74(3): 223–232. Published online 2008 Jul 9. doi: 10.1111/j.1399-0004.2008.01053.x
PMCID:
PMC4732719
AbstractArticlePDF–552K
18.
Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss
Mohsin Shahzad, Theru A Sivakumaran, Tanveer A. Qaiser, Julie M. Schultz, Zawar Hussain, Megan Flanagan, Munir A. Bhinder, Diane Kissell, John H Greinwald, Jr, Shaheen N. Khan, Thomas B. Friedman, Kejian Zhang, Saima Riazuddin, Sheikh Riazuddin, Zubair M. Ahmed
Otolaryngol Head Neck Surg. Author manuscript; available in PMC 2014 Sep 1.
Published in final edited form as: Otolaryngol Head Neck Surg. 2013 Sep; 149(3): 478–487. Published online 2013 Jun 14. doi: 10.1177/0194599813493075
PMCID:
PMC4030297
AbstractArticlePDF–1.2M
19.
Advancing Genetic Testing for Deafness with Genomic Technology
A. Eliot Shearer, E. Ann Black-Ziegelbein, Michael S. Hildebrand, Robert W. Eppsteiner, Harini Ravi, Swati Joshi, Angelica C. Guiffre, Christina M. Sloan, Scott Happe, Susanna D. Howard, Barbara Novak, Adam P. DeLuca, Kyle R. Taylor, Todd E. Scheetz, Terry A. Braun, Thomas L. Casavant, William J. Kimberling, Emily M. LeProust, Richard J.H. Smith
J Med Genet. Author manuscript; available in PMC 2014 Jan 10.
Published in final edited form as: J Med Genet. 2013 Sep; 50(9): 10.1136/jmedgenet-2013-101749. Published online 2013 Jun 26. doi: 10.1136/jmedgenet-2013-101749
PMCID:
PMC3887546
AbstractArticlePDF–895K
20.
Novel ALMS1 mutations in Chinese patients with Alström syndrome
Xiaofang Liang, Hui Li, Huajin Li, Fei Xu, Fangtian Dong, Ruifang Sui
Mol Vis. 2013; 19: 1885–1891. Published online 2013 Sep 7.
PMCID:
PMC3774572
AbstractArticlePDF–1.2M

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