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5. Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta. Chosack A; Eidelman E; Wisotski I; Cohen T Oral Surg Oral Med Oral Pathol; 1979 Feb; 47(2):148-56. PubMed ID: 284277 [TBL] [Abstract][Full Text] [Related]
6. 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; 50(1):79-83. PubMed ID: 8160757 [TBL] [Abstract][Full Text] [Related]
7. Hypomaturation amelogenesis imperfecta: account of a family with an X-linked inheritance pattern. Bundzman ER; Modesto A Braz Dent J; 1999; 10(2):111-6. PubMed ID: 10863398 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 23086778 [TBL] [Abstract][Full Text] [Related]
9. Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity. Akgün-Doğan Ö; Simsek-Kiper PO; Taşkıran E; Schossig A; Utine GE; Zschocke J; Boduroglu K J Child Neurol; 2021 Sep; 36(10):816-822. PubMed ID: 33866847 [TBL] [Abstract][Full Text] [Related]
10. Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion. Morscher RJ; Rauscher C; Sperl W; Rittinger O Seizure; 2017 Aug; 50():118-120. PubMed ID: 28651123 [No Abstract] [Full Text] [Related]
11. 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. PubMed ID: 27667191 [TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 27600704 [TBL] [Abstract][Full Text] [Related]
13. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. Jalili IK; Smith NJ J Med Genet; 1988 Nov; 25(11):738-40. PubMed ID: 3236352 [TBL] [Abstract][Full Text] [Related]
14. A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families. Urzúa B; Ortega-Pinto A; Farias DA; Franco E; Morales-Bozo I; Moncada G; Escobar-Pezoa N; Scholz U; Cifuentes V Acta Odontol Scand; 2012 Jan; 70(1):7-14. PubMed ID: 21504268 [TBL] [Abstract][Full Text] [Related]
15. 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; 90(4):708-14. PubMed ID: 22482807 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 25427323 [TBL] [Abstract][Full Text] [Related]
17. Amelogenesis imperfecta with taurodontism. Congleton J; Burkes EJ Oral Surg Oral Med Oral Pathol; 1979 Dec; 48(6):540-4. PubMed ID: 292959 [TBL] [Abstract][Full Text] [Related]
18. An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. Michaelides M; Bloch-Zupan A; Holder GE; Hunt DM; Moore AT J Med Genet; 2004 Jun; 41(6):468-73. PubMed ID: 15173235 [No Abstract] [Full Text] [Related]
19. Amelogenesis imperfecta--clinical manifestations in 51 families in a northern Swedish county. Bäckman B Scand J Dent Res; 1988 Dec; 96(6):505-16. PubMed ID: 3264621 [TBL] [Abstract][Full Text] [Related]
20. Hereditary aspects and classification of hereditary amelogenesis imperfecta. Sundell S; Valentin J Community Dent Oral Epidemiol; 1986 Aug; 14(4):211-6. PubMed ID: 3461907 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]