Literature DB >> 4372200

Familial epilepsy and yellow teeth--a disease of the CNS associated with enamel hypoplasia.

A Kohlschütter, D Chappuis, C Meier, O Tönz, F Vassella, N Herschkowitz.   

Abstract

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Year:  1974        PMID： 4372200

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


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  9 in total

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

Authors:  Mathilde Huckert; Helen Mecili; Virginie Laugel-Haushalter; Corinne Stoetzel; Jean Muller; Elisabeth Flori; Vincent Laugel; Marie-Cécile Manière; Hélène Dollfus; Agnès Bloch-Zupan
Journal:  Mol Syndromol       Date:  2014-09-11

2.  Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

Authors:  Anna Schossig; Nicole I Wolf; Christine Fischer; Maria Fischer; Gernot Stocker; Stephan Pabinger; Andreas Dander; Bernhard Steiner; Otmar Tönz; Dieter Kotzot; Edda Haberlandt; Albert Amberger; Barbara Burwinkel; Katharina Wimmer; Christine Fauth; Caspar Grond-Ginsbach; Martin J Koch; Annette Deichmann; Christof von Kalle; Claus R Bartram; Alfried Kohlschütter; Zlatko Trajanoski; Johannes Zschocke
Journal:  Am J Hum Genet       Date:  2012-03-15       Impact factor: 11.025

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

Authors:  Adi Mory; Efrat Dagan; Barbara Illi; Philippe Duquesnoy; Shikma Mordechai; Ishai Shahor; Sveva Romani; Nivin Hawash-Moustafa; Hanna Mandel; Enza M Valente; Serge Amselem; Ruth Gershoni-Baruch
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

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

Authors:  J Christodoulou; R K Hall; S Menahem; I J Hopkins; J G Rogers
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

5.  Kohlschütter-Tönz Syndrome - Report of an additional case.

Authors:  Wilfredo A González-Arriagada; Román Carlos-Bregni; Elisa Contreras; Oslei P Almeida; Marcio A Lopes
Journal:  J Clin Exp Dent       Date:  2013-04-01

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

Authors:  Hakbong Lee; Hanbin Jeong; Joonho Choe; Youngsoo Jun; Chunghun Lim; Changwook Lee
Journal:  Sci Rep       Date:  2017-06-21       Impact factor: 4.379

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

Authors:  Arianna Tucci; Eleanna Kara; Anna Schossig; Nicole I Wolf; Vincent Plagnol; Katherine Fawcett; Coro Paisán-Ruiz; Matthew Moore; Dena Hernandez; Sebastiano Musumeci; Michael Tennison; Raoul Hennekam; Silvia Palmeri; Alessandro Malandrini; Salmo Raskin; Dian Donnai; Corina Hennig; Andreas Tzschach; Roel Hordijk; Thomas Bast; Katharina Wimmer; Chien-Ning Lo; Simon Shorvon; Heather Mefford; Evan E Eichler; Roger Hall; Ian Hayes; John Hardy; Andrew Singleton; Johannes Zschocke; Henry Houlden
Journal:  Hum Mutat       Date:  2012-11-27       Impact factor: 4.878

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

Authors:  Minjong Kim; Donghoon Jang; Eunseok Yoo; Yangkyun Oh; Jun Young Sonn; Jongbin Lee; Yoonhee Ki; Hyo Jin Son; Onyou Hwang; Changwook Lee; Chunghun Lim; Joonho Choe
Journal:  Sci Rep       Date:  2017-09-12       Impact factor: 4.379

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

Authors:  Donatus Riemann; Rebecca Wallrafen; Thomas Dresbach
Journal:  Sci Rep       Date:  2017-11-17       Impact factor: 4.379
  9 in total

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