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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1968 1
1971 2
1974 1
1976 1
1980 1
1985 1
1990 1
1992 1
1998 1
2001 1
2002 1
2005 2
2007 1
2008 1
2011 1
2014 1
2024 0

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PubMed (OMIM) for id: 136647

18 results

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Page 1
Pollitt syndrome patients carry mutation in TTDN1.
Swagemakers SM, Jaspers NG, Raams A, Heijsman D, Vermeulen W, Troelstra C, Kremer A, Lincoln SE, Tearle R, Hoeijmakers JH, van der Spek PJ. Swagemakers SM, et al. Meta Gene. 2014 Aug 30;2:616-8. doi: 10.1016/j.mgene.2014.08.001. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606444 Free PMC article.
Ocular manifestations of trichothiodystrophy.
Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, Blain D, Hadsall C, Rowan J, Bowles KE, Khan SG, Ueda T, Boyle J, Oh KS, DiGiovanna JJ, Kraemer KH. Brooks BP, et al. Ophthalmology. 2011 Dec;118(12):2335-42. doi: 10.1016/j.ophtha.2011.05.036. Epub 2011 Sep 28. Ophthalmology. 2011. PMID: 21959366 Free PMC article.
Amish brittle hair syndrome gene maps to 7p14.1.
Seboun E, Lemainque A, Jackson CE. Seboun E, et al. Am J Med Genet A. 2005 Apr 30;134(3):290-4. doi: 10.1002/ajmg.a.30615. Am J Med Genet A. 2005. PMID: 15723315
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW. Nakabayashi K, et al. Am J Hum Genet. 2005 Mar;76(3):510-6. doi: 10.1086/428141. Epub 2005 Jan 11. Am J Hum Genet. 2005. PMID: 15645389 Free PMC article.
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. Nakabayashi K, et al. Genomics. 2002 Feb;79(2):186-96. doi: 10.1006/geno.2002.6695. Genomics. 2002. PMID: 11829489
Trichothiodystrophy, a transcription syndrome.
Bergmann E, Egly JM. Bergmann E, et al. Trends Genet. 2001 May;17(5):279-86. doi: 10.1016/s0168-9525(01)02280-6. Trends Genet. 2001. PMID: 11335038 Review.
18 results