Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 13

1.

A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome.

Aswath N, Ramakrishnan SN, Teresa N, Ramanathan A.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2018 Jan;125(1):e8-e11. doi: 10.1016/j.oooo.2017.09.016. Epub 2017 Oct 12.

PMID:
29153277
2.

The Kohlschütter-Tönz syndrome associated gene Rogdi encodes a novel presynaptic protein.

Riemann D, Wallrafen R, Dresbach T.

Sci Rep. 2017 Nov 17;7(1):15791. doi: 10.1038/s41598-017-16004-1.

3.

Rogdi Defines GABAergic Control of a Wake-promoting Dopaminergic Pathway to Sustain Sleep in Drosophila.

Kim M, Jang D, Yoo E, Oh Y, Sonn JY, Lee J, Ki Y, Son HJ, Hwang O, Lee C, Lim C, Choe J.

Sci Rep. 2017 Sep 12;7(1):11368. doi: 10.1038/s41598-017-11941-3.

4.

The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome.

Lee H, Jeong H, Choe J, Jun Y, Lim C, Lee C.

Sci Rep. 2017 Jun 21;7(1):3972. doi: 10.1038/s41598-017-04120-x.

5.

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.

Schossig A, Bloch-Zupan A, Lussi A, Wolf NI, Raskin S, Cohen M, Giuliano F, Jurgens J, Krabichler B, Koolen DA, de Macena Sobreira NL, Maurer E, Muller-Bolla M, Penzien J, Zschocke J, Kapferer-Seebacher I.

J Med Genet. 2017 Jan;54(1):54-62. doi: 10.1136/jmedgenet-2016-103988. Epub 2016 Sep 6.

PMID:
27600704
6.

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.

Huckert M, Mecili H, Laugel-Haushalter V, Stoetzel C, Muller J, Flori E, Laugel V, Manière MC, Dollfus H, Bloch-Zupan A.

Mol Syndromol. 2014 Dec;5(6):293-8. doi: 10.1159/000366252. Epub 2014 Sep 11.

7.

Kohlschütter-Tönz syndrome in siblings without ROGDI mutation.

De Souza CM, Souza J, Furtado CM, Cleto JL, Antoniuk SA, Raskin S.

Oral Health Dent Manag. 2014 Sep;13(3):728-30.

PMID:
25284547
8.

Genotype-based databases for variants causing rare diseases.

Lanthaler B, Wieser S, Deutschmann A, Schossig A, Fauth C, Zschocke J, Witsch-Baumgartner M.

Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.

PMID:
25111118
9.

Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.

Mory A, Dagan E, Shahor I, Mandel H, Illi B, Zolotushko J, Kurolap A, Chechik E, Valente EM, Amselem S, Gershoni-Baruch R.

Pediatr Neurol. 2014 Apr;50(4):421-6. doi: 10.1016/j.pediatrneurol.2014.01.006. Epub 2014 Jan 7.

PMID:
24630287
10.

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.

Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H.

Hum Mutat. 2013 Feb;34(2):296-300. doi: 10.1002/humu.22241. Epub 2012 Nov 27.

11.

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome.

Schossig A, Wolf NI, Kapferer I, Kohlschütter A, Zschocke J.

Eur J Med Genet. 2012 May;55(5):319-22. doi: 10.1016/j.ejmg.2012.02.008. Epub 2012 Mar 28. Review.

PMID:
22522085
12.

A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.

Mory A, Dagan E, Illi B, Duquesnoy P, Mordechai S, Shahor I, Romani S, Hawash-Moustafa N, Mandel H, Valente EM, Amselem S, Gershoni-Baruch R.

Am J Hum Genet. 2012 Apr 6;90(4):708-14. doi: 10.1016/j.ajhg.2012.03.005.

13.

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschütter A, Trajanoski Z, Zschocke J.

Am J Hum Genet. 2012 Apr 6;90(4):701-7. doi: 10.1016/j.ajhg.2012.02.012. Epub 2012 Mar 15.

Supplemental Content

Loading ...
Support Center