Trichothiodystrophy (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Trichothiodystrophy" in English language version.

refsWebsite

Global rank English rank

14nih.gov

4^th place

9doi.org

2^nd place

3omim.org

4,380^th place

4,305^th place

2semanticscholar.org

11^th place

8^th place

1archive.org

6^th place

1oxfordjournals.org

1,389^th place

2,996^th place

archive.org

James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 575. ISBN 978-0-7216-2921-6.

doi.org

Lambert WC, Gagna CE, Lambert MW (2010). "Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome". Diseases of DNA Repair. Advances in Experimental Medicine and Biology. Vol. 685. pp. 106–10. doi:10.1007/978-1-4419-6448-9_10. ISBN 978-1-4419-6447-2. PMID 20687499.{{cite book}}: CS1 maint: multiple names: authors list (link)
Liang, Christine; Kraemer, Kenneth H.; Morris, Andrea; Schiffmann, Raphael; Price, Vera H.; Menefee, Emory; DiGiovanna, John J. (February 2005). "Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy". Journal of the American Academy of Dermatology. 52 (2): 224–232. doi:10.1016/j.jaad.2004.09.013. PMID 15692466.
Nakabayashi K, Amann D, Ren Y, et al. (March 2005). "Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy". Am. J. Hum. Genet. 76 (3): 510–6. doi:10.1086/428141. PMC 1196401. PMID 15645389.
Tay CH (1971). "Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder". Arch Dermatol. 104 (1): 4–13. doi:10.1001/archderm.104.1.4. PMID 5120162.
Stefanini M, B. E.; Botta, E.; Lanzafame, M.; Orioli, D. (January 2010). "Trichothiodystrophy: from basic mechanisms to clinical implications". DNA Repair. 9 (1): 2–10. doi:10.1016/j.dnarep.2009.10.005. PMID 19931493.
Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG (Dec 2007). "Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk". Prenat. Diagn. 27 (12): 1133–1137. doi:10.1002/pd.1849. PMID 17880036. S2CID 23534246.
Peserico, A.; Battistella, P. A.; Bertoli, P. (1 January 1992). "MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S". Neuroradiology. 34 (4): 316–317. doi:10.1007/BF00588190. PMID 1528442. S2CID 31063628.
Theil AF, Hoeijmakers JH, Vermeulen W (2014). "TTDA: big impact of a small protein". Exp. Cell Res. 329 (1): 61–8. doi:10.1016/j.yexcr.2014.07.008. PMID 25016283.
Edifizi D, Schumacher B (2015). "Genome Instability in Development and Aging: Insights from Nucleotide Excision Repair in Humans, Mice, and Worms". Biomolecules. 5 (3): 1855–69. doi:10.3390/biom5031855. PMC 4598778. PMID 26287260.

nih.gov

pubmed.ncbi.nlm.nih.gov

Lambert WC, Gagna CE, Lambert MW (2010). "Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome". Diseases of DNA Repair. Advances in Experimental Medicine and Biology. Vol. 685. pp. 106–10. doi:10.1007/978-1-4419-6448-9_10. ISBN 978-1-4419-6447-2. PMID 20687499.{{cite book}}: CS1 maint: multiple names: authors list (link)
Liang, Christine; Kraemer, Kenneth H.; Morris, Andrea; Schiffmann, Raphael; Price, Vera H.; Menefee, Emory; DiGiovanna, John J. (February 2005). "Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy". Journal of the American Academy of Dermatology. 52 (2): 224–232. doi:10.1016/j.jaad.2004.09.013. PMID 15692466.
Baden, H. P.; Jackson, C. E.; Weiss, L.; Jimbow, K.; Lee, L.; Kubilus, J.; Gold, R. J. (Sep 1976). "The physicochemical properties of hair in the BIDS syndrome". American Journal of Human Genetics. 28 (5): 514–521. PMC 1685097. PMID 984047.
Nakabayashi K, Amann D, Ren Y, et al. (March 2005). "Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy". Am. J. Hum. Genet. 76 (3): 510–6. doi:10.1086/428141. PMC 1196401. PMID 15645389.
Tay CH (1971). "Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder". Arch Dermatol. 104 (1): 4–13. doi:10.1001/archderm.104.1.4. PMID 5120162.
Stefanini M, B. E.; Botta, E.; Lanzafame, M.; Orioli, D. (January 2010). "Trichothiodystrophy: from basic mechanisms to clinical implications". DNA Repair. 9 (1): 2–10. doi:10.1016/j.dnarep.2009.10.005. PMID 19931493.
Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG (Dec 2007). "Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk". Prenat. Diagn. 27 (12): 1133–1137. doi:10.1002/pd.1849. PMID 17880036. S2CID 23534246.
Peserico, A.; Battistella, P. A.; Bertoli, P. (1 January 1992). "MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S". Neuroradiology. 34 (4): 316–317. doi:10.1007/BF00588190. PMID 1528442. S2CID 31063628.
Theil AF, Hoeijmakers JH, Vermeulen W (2014). "TTDA: big impact of a small protein". Exp. Cell Res. 329 (1): 61–8. doi:10.1016/j.yexcr.2014.07.008. PMID 25016283.
Edifizi D, Schumacher B (2015). "Genome Instability in Development and Aging: Insights from Nucleotide Excision Repair in Humans, Mice, and Worms". Biomolecules. 5 (3): 1855–69. doi:10.3390/biom5031855. PMC 4598778. PMID 26287260.

ncbi.nlm.nih.gov

Baden, H. P.; Jackson, C. E.; Weiss, L.; Jimbow, K.; Lee, L.; Kubilus, J.; Gold, R. J. (Sep 1976). "The physicochemical properties of hair in the BIDS syndrome". American Journal of Human Genetics. 28 (5): 514–521. PMC 1685097. PMID 984047.
Nakabayashi K, Amann D, Ren Y, et al. (March 2005). "Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy". Am. J. Hum. Genet. 76 (3): 510–6. doi:10.1086/428141. PMC 1196401. PMID 15645389.
Edifizi D, Schumacher B (2015). "Genome Instability in Development and Aging: Insights from Nucleotide Excision Repair in Humans, Mice, and Worms". Biomolecules. 5 (3): 1855–69. doi:10.3390/biom5031855. PMC 4598778. PMID 26287260.

ghr.nlm.nih.gov

"Trichothiodystrophy". Genetics Home Reference. Retrieved 19 February 2018.

omim.org

Online Mendelian Inheritance in Man (OMIM): 234050
Online Mendelian Inheritance in Man (OMIM): 601675
Online Mendelian Inheritance in Man (OMIM): 616390

oxfordjournals.org

Hashimoto S, and Egly JM http://www.oxfordjournals.org/content/18/R2/R224^{[permanent dead link]}

semanticscholar.org

api.semanticscholar.org

Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG (Dec 2007). "Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk". Prenat. Diagn. 27 (12): 1133–1137. doi:10.1002/pd.1849. PMID 17880036. S2CID 23534246.
Peserico, A.; Battistella, P. A.; Bertoli, P. (1 January 1992). "MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S". Neuroradiology. 34 (4): 316–317. doi:10.1007/BF00588190. PMID 1528442. S2CID 31063628.