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Items: 1 to 20 of 95

1.

Comprehensive analysis of syndromic hearing loss patients in Japan.

Ideura M, Nishio SY, Moteki H, Takumi Y, Miyagawa M, Sato T, Kobayashi Y, Ohyama K, Oda K, Matsui T, Ito T, Suzumura H, Nagai K, Izumi S, Nishiyama N, Komori M, Kumakawa K, Takeda H, Kishimoto Y, Iwasaki S, Furutate S, Ishikawa K, Fujioka M, Nakanishi H, Nakayama J, Horie R, Ohta Y, Naito Y, Kakudo M, Sakaguchi H, Kataoka Y, Sugahara K, Hato N, Nakagawa T, Tsuchihashi N, Kanda Y, Kihara C, Tono T, Miyanohara I, Ganaha A, Usami SI.

Sci Rep. 2019 Aug 19;9(1):11976. doi: 10.1038/s41598-019-47141-4.

2.

An overview of hereditary hearing loss.

Bayazit YA, Yilmaz M.

ORL J Otorhinolaryngol Relat Spec. 2006;68(2):57-63. Epub 2006 Jan 20. Review.

3.

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Gettelfinger JD, Dahl JP.

J Pediatr Genet. 2018 Mar;7(1):1-8. doi: 10.1055/s-0037-1617454. Epub 2018 Jan 4. Review.

4.

Genes and syndromic hearing loss.

Keats BJ.

J Commun Disord. 2002 Jul-Aug;35(4):355-66.

PMID:
12160354
5.

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss.

Lenarduzzi S, Morgan A, Faletra F, Cappellani S, Morgutti M, Mezzavilla M, Peruzzi A, Ghiselli S, Ambrosetti U, Graziano C, Seri M, Gasparini P, Girotto G.

Hear Res. 2019 Sep 15;381:107769. doi: 10.1016/j.heares.2019.07.006. Epub 2019 Jul 13.

PMID:
31387071
6.

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G.

Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6.

PMID:
27068579
7.

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.

Soares de Lima Y, Chiabai M, Shen J, Córdoba MS, Versiani BR, Benício ROA, Pogue R, Mingroni-Netto RC, Lezirovitz K, Pic-Taylor A, Mazzeu JF, Oliveira SF.

Hear Res. 2018 Dec;370:181-188. doi: 10.1016/j.heares.2018.10.008. Epub 2018 Oct 16.

PMID:
30390570
8.

Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.

Nishio SY, Takumi Y, Usami SI.

Hear Res. 2017 May;348:87-97. doi: 10.1016/j.heares.2017.02.017. Epub 2017 Mar 3.

9.

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J.

BMC Med Genomics. 2018 Jul 9;11(1):58. doi: 10.1186/s12920-018-0375-5.

10.

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

Uysal F, Turkgenc B, Toksoy G, Bostan OM, Evke E, Uyguner O, Yakicier C, Kayserili H, Cil E, Temel SG.

BMC Med Genet. 2017 Oct 16;18(1):114. doi: 10.1186/s12881-017-0474-8.

11.

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R.

Nat Genet. 1996 Apr;12(4):421-3.

PMID:
8630497
12.

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.

Boudewyns A, van den Ende J, Sommen M, Wuyts W, Peeters N, Van de Heyning P, Van Camp G.

Otol Neurotol. 2018 Jul;39(6):732-738. doi: 10.1097/MAO.0000000000001847.

PMID:
29889784
13.

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T.

Orphanet J Rare Dis. 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172.

14.

Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.

Wang H, Wang L, Yang J, Yin L, Lan L, Li J, Zhang Q, Wang D, Guan J, Wang Q.

BMC Med Genet. 2019 Jan 11;20(1):11. doi: 10.1186/s12881-018-0741-3.

15.

Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.

Men M, Li W, Chen H, Wu J, Feng Y, Guo H, Li JD.

Laryngoscope. 2019 Mar 25. doi: 10.1002/lary.27941. [Epub ahead of print]

PMID:
30908667
16.

Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.

Chen MJ, Wei SY, Yang WS, Wu TT, Li HY, Ho HN, Yang YS, Chen PL.

Hum Reprod. 2015 Jul;30(7):1732-42. doi: 10.1093/humrep/dev095. Epub 2015 Apr 29.

PMID:
25924657
17.

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:88-93. doi: 10.1016/j.ijporl.2017.10.042. Epub 2017 Oct 31.

PMID:
29287889
18.

Cochlear implantation in children with syndromic deafness.

Broomfield SJ, Bruce IA, Henderson L, Ramsden RT, Green KM.

Int J Pediatr Otorhinolaryngol. 2013 Aug;77(8):1312-6. doi: 10.1016/j.ijporl.2013.05.022. Epub 2013 Jun 15.

PMID:
23773333
19.

Syndromic deafness-prevalence, distribution and hearing management protocol in Indian scenario.

Arumugam SV, Paramasivan VK, Murali S, Natarajan K, Sudhamaheswari, Kameswaran M.

Ann Med Surg (Lond). 2015 Apr 15;4(2):143-50. doi: 10.1016/j.amsu.2015.04.002. eCollection 2015 Jun.

20.

Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes.

Huang BY, Zdanski C, Castillo M.

AJNR Am J Neuroradiol. 2012 Mar;33(3):399-406. doi: 10.3174/ajnr.A2499. Epub 2011 May 19. Review.

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