Thoenes M - Search Results

1

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zühlke C, Ebermann I, Nürnberg G, Nürnberg P, Bolz HJ. Elsayed SM, et al. Among authors: thoenes m. Eur J Hum Genet. 2014 Feb;22(2):286-8. doi: 10.1038/ejhg.2013.150. Epub 2013 Jul 10. Eur J Hum Genet. 2014. PMID: 23838597 Free PMC article.

2

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. Elsayed SM, et al. Among authors: thoenes m. Hum Mol Genet. 2015 May 1;24(9):2594-603. doi: 10.1093/hmg/ddv022. Epub 2015 Jan 23. Hum Mol Genet. 2015. PMID: 25616960 Free PMC article.

3

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ. Thoenes M, et al. Orphanet J Rare Dis. 2015 Feb 10;10:15. doi: 10.1186/s13023-015-0238-5. Orphanet J Rare Dis. 2015. PMID: 25759012 Free PMC article.

4

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ. Zaki MS, et al. Among authors: thoenes m. Hum Mutat. 2016 Feb;37(2):170-4. doi: 10.1002/humu.22934. Epub 2015 Dec 14. Hum Mutat. 2016. PMID: 26593283

5

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nürnberg G, Thoenes M, Becker J, Altmüller J, Volk AE, Kubisch C, Heller R. Fazeli W, et al. Among authors: thoenes m. Hum Mol Genet. 2017 Oct 15;26(20):4055-4066. doi: 10.1093/hmg/ddx296. Hum Mol Genet. 2017. PMID: 29016863

6

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.

Zaki M, Thoenes M, Kawalia A, Nürnberg P, Kaiser R, Heller R, Bolz HJ. Zaki M, et al. Among authors: thoenes m. Front Genet. 2017 Sep 22;8:130. doi: 10.3389/fgene.2017.00130. eCollection 2017. Front Genet. 2017. PMID: 29018476 Free PMC article.

7

Mutation of POC1B in a severe syndromic retinal ciliopathy.

Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ. Beck BB, et al. Among authors: thoenes m. Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11. Hum Mutat. 2014. PMID: 25044745 Free PMC article.

8

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

Stephen LA, Tawamie H, Davis GM, Tebbe L, Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra RA, Davey MG, Bolz HJ. Stephen LA, et al. Among authors: thoenes m. Elife. 2015 Sep 19;4:e08077. doi: 10.7554/eLife.08077. Elife. 2015. PMID: 26386247 Free PMC article.

9

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

Abdel-Salam G, Thoenes M, Afifi HH, Körber F, Swan D, Bolz HJ. Abdel-Salam G, et al. Among authors: thoenes m. Orphanet J Rare Dis. 2014 Jan 23;9:12. doi: 10.1186/1750-1172-9-12. Orphanet J Rare Dis. 2014. PMID: 24456803 Free PMC article.

10

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ. Ahmad A, et al. Among authors: thoenes m. Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16. Mol Vis. 2011. PMID: 21850168 Free PMC article.

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