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Items: 1 to 20 of 60

1.
Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades
Madiha Shadab, Ansar Ahmed Abbasi, Ahsan Ejaz, Afif Ben‐Mahmoud, Vijay Gupta, Hyung‐Goo Kim, Barbara Vona
J Cell Mol Med. 2024 Apr; 28(8): e18119. Published online 2024 Mar 27. doi: 10.1111/jcmm.18119
PMCID:
PMC10967143
AbstractArticlePDF–1.3M
2.
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu, Shan Duan
BMC Med Genomics. 2024; 17: 4. Published online 2024 Jan 2. doi: 10.1186/s12920-023-01777-4
PMCID:
PMC10763153
AbstractArticlePDF–2.6M
3.
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene
Anca-Lelia Riza, Camelia Alkhzouz, Marius Farcaș, Andrei Pîrvu, Diana Miclea, Gheorghe Mihuț, Răzvan-Mihail Pleșea, Delia Ștefan, Mihaela Drodar, Călin Lazăr, on behalf of the HINT Study, on behalf of the FUSE Study, Mihai Ioana, Radu Popp
Genes (Basel) 2023 Jan; 14(1): 69. Published online 2022 Dec 26. doi: 10.3390/genes14010069
PMCID:
PMC9858611
AbstractArticlePDF–639K
4.
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss
Yanbao Xiang, Chenyang Xu, Yunzhi Xu, Lili Zhou, Shaohua Tang, Xueqin Xu
J Clin Lab Anal. 2022 Nov; 36(11): e24708. Published online 2022 Sep 26. doi: 10.1002/jcla.24708
PMCID:
PMC9701874
AbstractArticlePDF–2.0M
5.
Elucidation of repeat motifs R1‐ and R2‐related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals
Rosemary Ida Kabahuma, Wolf‐Dieter Schubert, Christiaan Labuschagne, Denise Yan, Michael Sean Pepper, Xue‐Zhong Liu
Mol Genet Genomic Med. 2022 Oct; 10(10): e2015. Published online 2022 Aug 27. doi: 10.1002/mgg3.2015
PMCID:
PMC9544205
AbstractArticlePDF–1.3M
6.
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice
Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J. Ingham, Jing Chen, Claire J. Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav Harlalka, Shirish P. Jain, Barry A. Chioza, Katherina Walz, Karen P. Steel, Jamal Nasir, Mustafa Tekin
Proc Natl Acad Sci U S A. 2022 Jun 28; 119(26): e2204084119. Published online 2022 Jun 21. doi: 10.1073/pnas.2204084119
PMCID:
PMC9245706
AbstractArticlePDF–3.5M
7.
Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment
Mohib Ullah Kakar, Muhammad Akram, Muhammad Zubair Mehboob, Muhammad Younus, Muhammad Bilal, Ahmed Waqas, Amina Nazir, Muhammad Shafi, Muhammad Umair, Sajjad Ahmad, Misbahuddin M. Rafeeq
PLoS One. 2022; 17(6): e0268078. Published online 2022 Jun 16. doi: 10.1371/journal.pone.0268078
PMCID:
PMC9202841
AbstractArticlePDF–1.4M
8.
GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran
Ehsan Abbaspour Rodbaneh, Mohammad Panahi, Bahareh Rahimi, Haleh Mokabber, Reza Farajollahi, Behzad Davarnia
J Clin Lab Anal. 2021 Nov; 35(11): e24024. Published online 2021 Sep 28. doi: 10.1002/jcla.24024
PMCID:
PMC8605150
AbstractArticlePDF–530K
9.
Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies
Mohamed Ali Mosrati, Karima Fadhlaoui‐Zid, Amel Benammar‐Elgaaied, Abdullah Ahmed Gibriel, Mariem Ben Said, Saber Masmoudi
Mol Genet Genomic Med. 2021 Oct; 9(10): e1810. Published online 2021 Sep 13. doi: 10.1002/mgg3.1810
PMCID:
PMC8580077
AbstractArticlePDF–724K
10.
Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan
Nabila Kausar, Asma Haque, Muhammad Shareef Masoud, Nazia Nahid, Usman Ali Ashfaq, Ali Muhammad Waryah, Rashid Bhatti, Muhammad Qasim
PLoS One. 2021; 16(10): e0259083. Published online 2021 Oct 25. doi: 10.1371/journal.pone.0259083
PMCID:
PMC8544867
AbstractArticlePDF–1.2M
11.
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss
Marjo K. Hytönen, Julia E. Niskanen, Meharji Arumilli, Casey A. Brookhart-Knox, Jonas Donner, Hannes Lohi
Hum Genet. 2021; 140(11): 1611–1618. Published online 2021 May 13. doi: 10.1007/s00439-021-02286-z
PMCID:
PMC8521602
AbstractArticlePDF–1.1M
12.
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
AbstractArticlePDF–1.2M
13.
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
14.
Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant
Emma C. Bedoukian, Stefan Rentas, Cara Skraban, Qing Shao, James Treat, Dale W. Laird, Kathleen E. Sullivan
Mol Genet Genomic Med. 2021 Feb; 9(2): e1574. Published online 2021 Jan 14. doi: 10.1002/mgg3.1574
PMCID:
PMC8077155
AbstractArticlePDF–877K
15.
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations
Rosemary Ida Kabahuma, Wolf-Dieter Schubert, Christiaan Labuschagne, Denise Yan, Susan Halloran Blanton, Michael Sean Pepper, Xue Zhong Liu
Genes (Basel) 2021 Feb; 12(2): 274. Published online 2021 Feb 15. doi: 10.3390/genes12020274
PMCID:
PMC7919343
AbstractArticlePDF–6.8M
16.
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
17.
Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss
Khushnooda Ramzan, Nouf S. Al-Numair, Sarah Al-Ageel, Lina Elbaik, Nadia Sakati, Selwa A. F. Al-Hazzaa, Mohammed Al-Owain, Faiqa Imtiaz
Genes (Basel) 2020 Dec; 11(12): 1474. Published online 2020 Dec 9. doi: 10.3390/genes11121474
PMCID:
PMC7764456
AbstractArticlePDF–2.7M
18.
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
Gema García-García, Alba Berzal-Serrano, Piedad García-Díaz, Rebeca Villanova-Aparisi, Sara Juárez-Rodríguez, Carlos de Paula-Vernetta, Laura Cavallé-Garrido, Teresa Jaijo, Miguel Armengot-Carceller, José M Millán, Elena Aller
Genes (Basel) 2020 Dec; 11(12): 1467. Published online 2020 Dec 7. doi: 10.3390/genes11121467
PMCID:
PMC7762334
AbstractArticlePDF–3.1M
19.
Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family
Xinqiang Lan, Shiyu Sun, Xin Lan, Linyuan Niu, Chunxiao Zhang, Xiaoli Chen, Ningning Xia
Medicine (Baltimore) 2019 Dec; 98(50): e18253. Published online 2019 Dec 16. doi: 10.1097/MD.0000000000018253
PMCID:
PMC6922571
AbstractArticlePDF–763K
20.
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

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