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Items: 1 to 20 of 99

1.

Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.

Eaton A, Bernier FP, Goedhart C, Caluseriu O, Lamont RE, Boycott KM, Parboosingh JS, Innes AM; Care4Rare Canada Consortium.

Am J Med Genet A. 2018 Nov;176(11):2487-2493. doi: 10.1002/ajmg.a.40516. Epub 2018 Sep 23.

PMID:
30244537
2.

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J.

Eur J Hum Genet. 2016 Jan;25(1):79-84. doi: 10.1038/ejhg.2016.128. Epub 2016 Oct 19.

3.

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.

Sato R, Arai-Ichinoi N, Kikuchi A, Matsuhashi T, Numata-Uematsu Y, Uematsu M, Fujii Y, Murayama K, Ohtake A, Abe T, Kure S.

Clin Genet. 2018 Feb;93(2):242-247. doi: 10.1111/cge.13068. Epub 2017 Oct 4.

PMID:
28594066
4.

Expanding the clinical phenotype of IARS2-related mitochondrial disease.

Vona B, Maroofian R, Bellacchio E, Najafi M, Thompson K, Alahmad A, He L, Ahangari N, Rad A, Shahrokhzadeh S, Bahena P, Mittag F, Traub F, Movaffagh J, Amiri N, Doosti M, Boostani R, Shirzadeh E, Haaf T, Diodato D, Schmidts M, Taylor RW, Karimiani EG.

BMC Med Genet. 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3.

5.

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder.

Kovač J, Klančar G, Trebušak Podkrajšek K, Battelino S.

Front Genet. 2017 Jun 30;8:95. doi: 10.3389/fgene.2017.00095. eCollection 2017.

6.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.

Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31. Erratum in: Ophthalmology. 2017 Feb;124(2):273-274.

PMID:
24697911
7.

Mitochondrial Disorders Overview.

Chinnery PF.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2000 Jun 8 [updated 2014 Aug 14].

8.

POLG-Related Disorders.

Cohen BH, Chinnery PF, Copeland WC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2010 Mar 16 [updated 2018 Mar 1].

9.

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.

Parzefall T, Frohne A, Koenighofer M, Kirchnawy A, Streubel B, Schoefer C, Frei K, Lucas T.

Eur Arch Otorhinolaryngol. 2017 Oct;274(10):3619-3625. doi: 10.1007/s00405-017-4699-0. Epub 2017 Aug 18.

10.

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

Salime S, Charif M, Bousfiha A, Elrharchi S, Bakhchane A, Charoute H, Kabine M, Snoussi K, Lenaers G, Barakat A.

Int J Pediatr Otorhinolaryngol. 2017 Oct;101:25-29. doi: 10.1016/j.ijporl.2017.07.024. Epub 2017 Jul 21.

PMID:
28964305
11.

Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family.

Lin F, Li D, Wang P, Fan D, De J, Zhu W.

Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2216-21. doi: 10.1016/j.ijporl.2014.10.016. Epub 2014 Oct 22.

PMID:
25458163
12.

Novel pregnancy-triggered episodes of CAPOS syndrome.

Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA.

Am J Med Genet A. 2018 Jan;176(1):235-240. doi: 10.1002/ajmg.a.38502. Epub 2017 Nov 1. Review.

13.

Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?

Kenna MA, Rehm HL, Robson CD, Frangulov A, McCallum J, Yaeger D, Krantz ID.

Am J Med Genet A. 2007 Jul 15;143A(14):1560-6.

PMID:
17455295
14.

Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing.

Choi HS, Kim AR, Kim SH, Choi BY.

Eur Arch Otorhinolaryngol. 2016 May;273(5):1123-9. doi: 10.1007/s00405-015-3661-2. Epub 2015 May 27.

PMID:
26015337
15.

Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.

Runge CL, Indap A, Zhou Y, Kent JW Jr, King E, Erbe CB, Cole R, Littrell J, Merath K, James R, Rüschendorf F, Kerschner JE, Marth G, Hübner N, Göring HH, Friedland DR, Kwok WM, Olivier M.

JAMA Otolaryngol Head Neck Surg. 2016 Sep 1;142(9):866-72. doi: 10.1001/jamaoto.2016.1444.

16.

Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.

Kim BJ, Kim AR, Lee C, Kim SY, Kim NK, Chang MY, Rhee J, Park MH, Koo SK, Kim MY, Han JH, Oh SH, Park WY, Choi BY.

PLoS One. 2016 Oct 28;11(10):e0165680. doi: 10.1371/journal.pone.0165680. eCollection 2016.

17.

Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.

Kim NK, Kim AR, Park KT, Kim SY, Kim MY, Nam JY, Woo SJ, Oh SH, Park WY, Choi BY.

Genet Med. 2015 Nov;17(11):901-11. doi: 10.1038/gim.2014.213. Epub 2015 Feb 26. Erratum in: Genet Med. 2015 Oct;17(10):839. Woo, Se Jun [corrected to Woo, Se Joon].

PMID:
25719458
18.

WFS1-Related Disorders.

Tranebjærg L, Barrett T, Rendtorff ND.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Feb 24 [updated 2013 Dec 19].

19.

MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation.

Motavaf M, Soveizi M, Maleki M, Mahdieh N.

Int J Pediatr Otorhinolaryngol. 2017 May;96:35-38. doi: 10.1016/j.ijporl.2017.03.008. Epub 2017 Mar 6. Review.

PMID:
28390610
20.

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

Chen Z, Wang JL, Tang BS, Sun ZF, Shi YT, Shen L, Lei LF, Wei XM, Xiao JJ, Hu ZM, Pan Q, Xia K, Zhang QY, Dai MZ, Liu Y, Ashizawa T, Jiang H.

Neurobiol Aging. 2013 Oct;34(10):2442.e11-7. doi: 10.1016/j.neurobiolaging.2013.04.029. Epub 2013 May 30.

PMID:
23726790

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