Trichothiodystrophy Syndromes

Known as: Trichothiodystrophy Syndromes [Disease/Finding], Trichothiodystrophy Syndrome, Trichothiodystrophies 
Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1980-2017
0102019802017

Papers overview

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Highly Cited
2009
Highly Cited
2009
 
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Highly Cited
2008
Highly Cited
2008
Laboratory diagnosis for DNA repair diseases has been performed in western Europe from the early seventies for xeroderma… (More)
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Highly Cited
2007
Highly Cited
2007
Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most… (More)
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2007
2007
Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH yield the rare genetic disorder trichothiodystrophy… (More)
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Highly Cited
2004
Highly Cited
2004
DNA repair-deficient trichothiodystrophy (TTD) results from mutations in the XPD and XPB subunits of the DNA repair and… (More)
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Highly Cited
2003
Highly Cited
2003
Mutations in the XPD gene result in xeroderma pigmentosum (XP) and trichothiodystrophy (TTD), the phenotypes of which are often… (More)
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Highly Cited
2002
Highly Cited
2002
One of the factors postulated to drive the aging process is the accumulation of DNA damage. Here, we provide strong support for… (More)
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2002
2002
Trichothiodystrophy (TTD) is a rare hereditary multisystem disorder associated with defects in nucleotide excision repair (NER… (More)
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Highly Cited
1998
Highly Cited
1998
The sun-sensitive form of the severe neurodevelopmental, brittle hair disorder trichothiodystrophy (TTD) is caused by point… (More)
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Highly Cited
1997
Highly Cited
1997
The xeroderma pigmentosum group D (XPD) protein has a dual function, both in nucleotide excision repair of DNA damage and in… (More)
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