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A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population.

Imtiaz F, Taibah K, Ramzan K, Bin-Khamis G, Kennedy S, Al-Mubarak B, Trabzuni D, Allam R, Al-Mostafa A, Sogaty S, Al-Shaikh AH, Bamukhayyar SS, Meyer BF, Al-Owain M.

BMC Med Genet. 2011 Jul 4;12:91. doi: 10.1186/1471-2350-12-91.


Advances in the Molecular Genetics of Non-syndromic Syndactyly.

Deng H, Tan T.

Curr Genomics. 2015 Jun;16(3):183-93. doi: 10.2174/1389202916666150317233103.


Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.

Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY.

PLoS One. 2015 Jun 10;10(6):e0125416. doi: 10.1371/journal.pone.0125416. eCollection 2015.


A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

Wasano K, Mutai H, Obuchi C, Masuda S, Matsunaga T.

Biochem Biophys Res Commun. 2015 May 31. pii: S0006-291X(15)30023-1. doi: 10.1016/j.bbrc.2015.05.099. [Epub ahead of print]


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. 2015 May 27. [Epub ahead of print]


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.


DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

Tang HY, Fang P, Lin JW, Darilek S, Osborne BT, Haymond JA, Manolidis S, Roa BB, Oghalai JS, Alford RL.

BMJ Open. 2015 May 19;5(5):e007506. doi: 10.1136/bmjopen-2014-007506.


Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss.

Liu F, Hu J, Xia W, Hao L, Ma J, Ma D, Ma Z.

PLoS One. 2015 May 11;10(5):e0126602. doi: 10.1371/journal.pone.0126602. eCollection 2015.


Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.

Ahmed S, Jelani M, Alrayes N, Mohamoud HS, Almramhi MM, Anshasi W, Ahmed NA, Wang J, Nasir J, Al-Aama JY.

J Neurol Sci. 2015 Jun 15;353(1-2):149-54. doi: 10.1016/j.jns.2015.04.038. Epub 2015 May 1.


A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.

Al-Hamed M, Sayer JA, Al-Hassoun I, Aldahmesh MA, Meyer B.

NDT Plus. 2010 Dec;3(6):545-8. doi: 10.1093/ndtplus/sfq149. Epub 2010 Aug 26.


A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.

Mujtaba G, Schultz JM, Imtiaz A, Morell RJ, Friedman TB, Naz S.

J Med Genet. 2015 May 4. pii: jmedgenet-2015-103023. doi: 10.1136/jmedgenet-2015-103023. [Epub ahead of print]


Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.

Zhan Y, Liu M, Chen D, Chen K, Jiang H.

Int J Pediatr Otorhinolaryngol. 2015 Jul;79(7):983-6. doi: 10.1016/j.ijporl.2015.04.002. Epub 2015 Apr 11.


New mutation haplotypes in non-syndromic hearing loss.

Rai B, Sharif F.

Indian Pediatr. 2015 Apr;52(4):343. No abstract available.


Transcriptomics profiling study of breast cancer from Kingdom of Saudi Arabia revealed altered expression of Adiponectin and Fatty Acid Binding Protein4: Is lipid metabolism associated with breast cancer?

Merdad A, Karim S, Schulten HJ, Jayapal M, Dallol A, Buhmeida A, Al-Thubaity F, GariI MA, Chaudhary AG, Abuzenadah AM, Al-Qahtani MH.

BMC Genomics. 2015;16 Suppl 1:S11. doi: 10.1186/1471-2164-16-S1-S11. Epub 2015 Jan 15.


Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.

Gao X, Su Y, Chen YL, Han MY, Yuan YY, Xu JC, Xin F, Zhang MG, Huang SS, Wang GJ, Kang DY, Guan LP, Zhang JG, Dai P.

PLoS One. 2015 Apr 28;10(4):e0124757. doi: 10.1371/journal.pone.0124757. eCollection 2015.


Homozygosity analysis in subjects with autistic spectrum disorder.

Adi A, Tawil B, Aldosari M, Shinwari J, Nester M, Aldhalaan H, Alshamrani H, Ghannam M, Meyer B, Al Tassan N.

Mol Med Rep. 2015 Aug;12(2):2307-12. doi: 10.3892/mmr.2015.3663. Epub 2015 Apr 22.


Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients.

Adi A, Abbas BB, Hamed MA, Tassan NA, Bakheet D.

Genes (Basel). 2015 Apr 13;6(2):206-15. doi: 10.3390/genes6020206.


Non-syndromic hearing loss gene identification: A brief history and glimpse into the future.

Vona B, Nanda I, Hofrichter MA, Shehata-Dieler W, Haaf T.

Mol Cell Probes. 2015 Apr 3. pii: S0890-8508(15)00035-3. doi: 10.1016/j.mcp.2015.03.008. [Epub ahead of print]


Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss.

Gu X, Sun S, Guo L, Lu X, Mei H, Lai C, Li H.

Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):817-20. doi: 10.1016/j.ijporl.2015.03.008. Epub 2015 Mar 18.

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