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Select item 28911911.

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

Michael S. Hildebrand, Natalie P. Thorne, Catherine J. Bromhead, Kimia Kahrizi, Jennifer A. Webster, Zohreh Fattahi, Mojgan Bataejad, William J. Kimberling, Dietrich Stephan, Hossein Najmabadi, Melanie Bahlo, Richard J.H. Smith

Clin Genet. Author manuscript; available in PMC 2011 Jun 1.

Published in final edited form as: Clin Genet. 2010 Jun; 77(6): 563–571. Published online 2010 Feb 4. doi: 10.1111/j.1399-0004.2009.01344.x

PMCID:: PMC2891191

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Select item 79193432.

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

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Select item 54174853.

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Amina Bakhchane, Majida Charif, Amale Bousfiha, Redouane Boulouiz, Halima Nahili, Hassan Rouba, Hicham Charoute, Guy Lenaers, Abdelhamid Barakat

PLoS One. 2017; 12(5): e0176516. Published online 2017 May 4. doi: 10.1371/journal.pone.0176516

PMCID:: PMC5417485

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Select item 29567014.

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness

Imen Ben Rebeh, Madeleine Morinière, Leila Ayadi, Zeineb Benzina, Ilhem Charfedine, Jamel Feki, Hammadi Ayadi, Abdelmonem Ghorbel, Faouzi Baklouti, Saber Masmoudi

Mol Vis. 2010; 16: 1898–1906. Published online 2010 Sep 30.

PMCID:: PMC2956701

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Select item 28342895.

A Novel Allele of Myosin VIIa Reveals a Critical Function for the C-Terminal FERM Domain for Melanosome Transport in Retinal Pigment Epithelial Cells

Martin Schwander, Vanda Lopes, Anna Sczaniecka, Daniel Gibbs, Concepcion Lillo, David Delano, Lisa M. Tarantino, Tim Wiltshire, David S. Williams, Ulrich Müller

J Neurosci. 2009 Dec 16; 29(50): 15810–15818. doi: 10.1523/JNEUROSCI.4876-09.2009

PMCID:: PMC2834289

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Select item 17124406.

A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.

K Verhoeven, G Van Camp, P J Govaerts, W Balemans, I Schatteman, M Verstreken, L Van Laer, R J Smith, M R Brown, P H Van de Heyning, T Somers, F E Offeciers, P J Willems

Am J Hum Genet. 1997 May; 60(5): 1168–1173.

PMCID:: PMC1712440

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Select item 35209827.

Inner Ear Morphology Is Perturbed in Two Novel Mouse Models of Recessive Deafness

Kerry A. Miller, Louise H. Williams, Elizabeth Rose, Michael Kuiper, Hans-Henrik M. Dahl, Shehnaaz S. M. Manji

PLoS One. 2012; 7(12): e51284. Published online 2012 Dec 12. doi: 10.1371/journal.pone.0051284

PMCID:: PMC3520982

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Select item 68256628.

Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations

Mahbobeh KOOHIYAN, Somayeh REIISI, Fatemeh AZADEGAN-DEHKORDI, Mansoor SALEHI, Hamidreza ABTAHI, Morteza HASHEMZADEH-CHALESHTORI, Mohammad Reza NOORI-DALOII, Mohammad Amin TABATABAIEFAR

Iran J Public Health. 2019 Sep; 48(9): 1704–1713.

PMCID:: PMC6825662

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Select item 54019399.

Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran

Samira ASGHARZADE, Somayeh REIISI, Mohammad Amin TABATABAIEFAR, Morteza HASHEMZADEH CHALESHTORI

Iran J Public Health. 2017 Jan; 46(1): 76–82.

PMCID:: PMC5401939

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Select item 348176710.

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss

MA Tabatabaiefar, F Alasti, M Montazer Zohour, L Shariati, E Farrokhi, DD Farhud, GV Camp, MR Noori-Daloii, M Hashemzadeh Chaleshtori

Iran J Public Health. 2011; 40(2): 34–48. Published online 2011 Jun 30.

PMCID:: PMC3481767

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Select item 985861111.

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

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Select item 970187412.

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

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Select item 954420513.

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

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Select item 924570614.

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

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Select item 920284115.

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

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Select item 860515016.

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

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Select item 858007717.

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

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Select item 854486718.

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

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Select item 852160219.

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

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Select item 839134220.

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

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