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Items: 1 to 20 of 93

1.

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.

2.

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.

3.

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.

PMID:
24630287
4.

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.

5.

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. Review.

PMID:
22522085
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.

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.

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
9.

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. 2016 Sep 6. pii: jmedgenet-2016-103988. doi: 10.1136/jmedgenet-2016-103988. [Epub ahead of print]

PMID:
27600704
10.

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.

PMID:
25111118
11.

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.

12.

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
13.

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.

Zhang M, Chen J, Si D, Zheng Y, Jiao H, Feng Z, Hu Z, Duan R.

BMC Med Genet. 2014 Jul 5;15:77. doi: 10.1186/1471-2350-15-77.

14.

Enamelin/ameloblastin gene polymorphisms in autosomal amelogenesis imperfecta among Syrian families.

Dashash M, Bazrafshani MR, Poulton K, Jaber S, Naeem E, Blinkhorn AS.

J Investig Clin Dent. 2011 Feb;2(1):16-22. doi: 10.1111/j.2041-1626.2010.00038.x.

PMID:
25427323
15.

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.

16.

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium.; Care4Rare Canada..

Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464.

PMID:
25046240
17.

Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.

Khorram D, Choi M, Roos BR, Stone EM, Kopel T, Allen R, Alward WL, Scheetz TE, Fingert JH.

Mol Vis. 2015 Sep 1;21:1017-23.

18.

The genetic basis of DOORS syndrome: an exome-sequencing study.

Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM.

Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5.

19.

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

Volodarsky M, Zilberman U, Birk OS.

Arch Oral Biol. 2015 Jun;60(6):919-22. doi: 10.1016/j.archoralbio.2015.02.018.

PMID:
25827751
20.

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-González AM, Abdel-Salam G, Temtamy S, Alkuraya FS.

Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012.

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