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Items: 1 to 20 of 70

1.

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.

2.

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.

3.

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.

4.

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
5.

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
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: epilepsy, dementia, and amelogenesis imperfecta.

Zlotogora J, Fuks A, Borochowitz Z, Tal Y.

Am J Med Genet. 1993 Jun 1;46(4):453-4.

PMID:
8357021
8.

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.

9.

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
10.

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.

Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW.

Hum Mutat. 2012 Jan;33(1):91-4. doi: 10.1002/humu.21621. Epub 2011 Oct 31.

PMID:
21990045
11.

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
12.

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
13.

Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.

Gasse B, Karayigit E, Mathieu E, Jung S, Garret A, Huckert M, Morkmued S, Schneider C, Vidal L, Hemmerlé J, Sire JY, Bloch-Zupan A.

J Dent Res. 2013 Jul;92(7):598-603. doi: 10.1177/0022034513488393. Epub 2013 Apr 26.

PMID:
23625376
14.

Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome?

Guazzi G, Palmeri S, Malandrini A, Ciacci G, Di Perri R, Mancini G, Messina C, Salvadori C.

Am J Med Genet. 1994 Mar 1;50(1):79-83.

PMID:
8160757
15.

A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.

Christodoulou J, Hall RK, Menahem S, Hopkins IJ, Rogers JG.

J Med Genet. 1988 Dec;25(12):827-30.

16.

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE.

Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1.

17.

Non lethal Raine syndrome and differential diagnosis.

Elalaoui SC, Al-Sheqaih N, Ratbi I, Urquhart JE, O'Sullivan J, Bhaskar S, Williams SS, Elalloussi M, Lyahyai J, Sbihi L, Cherkaoui Jaouad I, Sbihi A, Newman WG, Sefiani A.

Eur J Med Genet. 2016 Nov;59(11):577-583. doi: 10.1016/j.ejmg.2016.09.018. Epub 2016 Sep 22.

PMID:
27667191
18.

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E.

J Med Genet. 2003 Dec;40(12):900-6.

19.

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.

O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ.

Am J Hum Genet. 2011 May 13;88(5):616-20. doi: 10.1016/j.ajhg.2011.04.005. Epub 2011 May 5.

20.

Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.

Cherkaoui Jaouad I, El Alloussi M, Chafai El Alaoui S, Laarabi FZ, Lyahyai J, Sefiani A.

BMC Oral Health. 2015 Jan 30;15:14. doi: 10.1186/1472-6831-15-14.

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