PubMed for Bookshelf ID: 1467340

Year	Number of Results
1960	1
1976	1
1981	1
1987	1
1988	1
1995	1
1996	2
1998	1
1999	3
2000	4
2001	6
2002	1
2003	1
2004	2
2007	5
2008	1
2011	1
2012	1
2015	1
2018	2
2019	1
2024	0

1

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. Wang H, et al. BMC Med Genet. 2019 Jan 11;20(1):11. doi: 10.1186/s12881-018-0741-3. BMC Med Genet. 2019. PMID: 30634948 Free PMC article.

2

Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes.

Szaflarska A, Rutkowska-Zapała M, Gruca A, Szewczyk K, Bik-Multanowski M, Lenart M, Surman M, Kopyta I, Głuszkiewicz E, Machnikowska-Sokołowska M, Gruszczyńska K, Pituch-Noworolska A, Siedlar M. Szaflarska A, et al. Cent Eur J Immunol. 2018;43(2):139-147. doi: 10.5114/ceji.2018.77383. Epub 2018 Jun 30. Cent Eur J Immunol. 2018. PMID: 30135625 Free PMC article.

3

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

Montaut S, Tranchant C, Drouot N, Rudolf G, Guissart C, Tarabeux J, Stemmelen T, Velt A, Fourrage C, Nitschké P, Gerard B, Mandel JL, Koenig M, Chelly J, Anheim M; French Parkinson’s and Movement Disorders Consortium. Montaut S, et al. JAMA Neurol. 2018 Oct 1;75(10):1234-1245. doi: 10.1001/jamaneurol.2018.1478. JAMA Neurol. 2018. PMID: 29913018 Free PMC article.

4

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.

5

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS. Ha AD, et al. Mov Disord. 2012 Jul;27(8):1034-40. doi: 10.1002/mds.25033. Epub 2012 Jun 26. Mov Disord. 2012. PMID: 22736418

6

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.

Arai T, Zhao M, Kanegane H, van Zelm MC, Futatani T, Yamada M, Ariga T, Ochs HD, Miyawaki T, Oh-ishi T. Arai T, et al. J Hum Genet. 2011 Aug;56(8):577-82. doi: 10.1038/jhg.2011.61. Epub 2011 Jul 14. J Hum Genet. 2011. PMID: 21753765

7

Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.

Blesa JR, Solano A, Briones P, Prieto-Ruiz JA, Hernández-Yago J, Coria F. Blesa JR, et al. Neuromolecular Med. 2007;9(4):285-91. doi: 10.1007/s12017-007-8000-3. Epub 2007 Aug 3. Neuromolecular Med. 2007. PMID: 17999202

8

Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome.

Brookes JT, Kanis AB, Tan LY, Tranebjaerg L, Vore A, Smith RJ. Brookes JT, et al. Int J Pediatr Otorhinolaryngol. 2008 Jan;72(1):121-6. doi: 10.1016/j.ijporl.2007.08.019. Epub 2007 Oct 15. Int J Pediatr Otorhinolaryngol. 2008. PMID: 17936919

9

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.

Sedivá A, Smith CI, Asplund AC, Hadac J, Janda A, Zeman J, Hansíková H, Dvoráková L, Mrázová L, Velbri S, Koehler C, Roesch K, Sullivan KE, Futatani T, Ochs HD. Sedivá A, et al. J Clin Immunol. 2007 Nov;27(6):640-6. doi: 10.1007/s10875-007-9123-x. Epub 2007 Sep 12. J Clin Immunol. 2007. PMID: 17851739

10

Otopathology in Mohr-Tranebjaerg syndrome.

Bahmad F Jr, Merchant SN, Nadol JB Jr, Tranebjaerg L. Bahmad F Jr, et al. Laryngoscope. 2007 Jul;117(7):1202-8. doi: 10.1097/MLG.0b013e3180581944. Laryngoscope. 2007. PMID: 17471106 Free PMC article.

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