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Quoted phrase not found in phrase index: "Trichothiodystrophy 1, photosensitive"
Page 1
Hair Loss: Common Causes and Treatment.
Phillips TG, Slomiany WP, Allison R. Phillips TG, et al. Am Fam Physician. 2017 Sep 15;96(6):371-378. Am Fam Physician. 2017. PMID: 28925637 Free article.
Trichothiodystrophy.
Garon L, Kokta V, Coulombe J. Garon L, et al. JAMA Dermatol. 2023 Aug 1;159(8):877. doi: 10.1001/jamadermatol.2023.0913. JAMA Dermatol. 2023. PMID: 37342013
Ethnic hair disorders.
Lindsey SF, Tosti A. Lindsey SF, et al. Curr Probl Dermatol. 2015;47:139-49. doi: 10.1159/000369414. Epub 2015 Feb 20. Curr Probl Dermatol. 2015. PMID: 26370652 Review.
Xeroderma pigmentosum.
Norgauer J, Idzko M, Panther E, Hellstern O, Herouy Y. Norgauer J, et al. Eur J Dermatol. 2003 Jan-Feb;13(1):4-9. Eur J Dermatol. 2003. PMID: 12609773 Review.
Differential diagnosis must distinguish xeroderma pigmentosum from other so-called DNA-repair-deficiency syndromes like the Cockayne Syndrome and trichothiodystrophy. Currently, there are reports of successful application of a topical DNA Repair Enzyme. ...
Differential diagnosis must distinguish xeroderma pigmentosum from other so-called DNA-repair-deficiency syndromes like the Cockayne …
Inherited ichthyosis: Syndromic forms.
Yoneda K. Yoneda K. J Dermatol. 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. J Dermatol. 2016. PMID: 26945533 Review.
Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjogren-Larsson syndrome, Conradi-Hunermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photopho …
Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton synd …
Ocular manifestations of genetic skin disorders.
Jen M, Nallasamy S. Jen M, et al. Clin Dermatol. 2016 Mar-Apr;34(2):242-75. doi: 10.1016/j.clindermatol.2015.11.008. Epub 2015 Dec 2. Clin Dermatol. 2016. PMID: 26903188 Review.
The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and genetic metabolic diseases are not included because they are covered elsewhere in this issue....
The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and gene …
Hair loss in children.
Alves R, Grimalt R. Alves R, et al. Curr Probl Dermatol. 2015;47:55-66. doi: 10.1159/000369405. Epub 2015 Feb 20. Curr Probl Dermatol. 2015. PMID: 26370644 Review.
Heterogeneity and overlaps in nucleotide excision repair disorders.
Ferri D, Orioli D, Botta E. Ferri D, et al. Clin Genet. 2020 Jan;97(1):12-24. doi: 10.1111/cge.13545. Epub 2019 Apr 22. Clin Genet. 2020. PMID: 30919937 Review.
A complicated genetic scenario underlines these disorders with the same gene linked to different clinical entities as well as different genes associated with the same disease. Overlap syndromes with combined hallmark features of different NER disorders can occur and sporad …
A complicated genetic scenario underlines these disorders with the same gene linked to different clinical entities as well as different gene …
Nucleotide excision repair and cancer.
Leibeling D, Laspe P, Emmert S. Leibeling D, et al. J Mol Histol. 2006 Sep;37(5-7):225-38. doi: 10.1007/s10735-006-9041-x. Epub 2006 Jul 20. J Mol Histol. 2006. PMID: 16855787 Review.
The consequences of defective NER are demonstrated by three rare autosomal-recessive NER-defective syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). ...In contrast to XP patients, CS and TTD patients are not skin cancer pr …
The consequences of defective NER are demonstrated by three rare autosomal-recessive NER-defective syndromes: xeroderma pigmentosum ( …
Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
Lambert WC, Gagna CE, Lambert MW. Lambert WC, et al. Adv Exp Med Biol. 2010;685:106-10. doi: 10.1007/978-1-4419-6448-9_10. Adv Exp Med Biol. 2010. PMID: 20687499 Review.
Cases without manifest ichthyosis are also identified as PBIDS. These syndromes defy rigorous definition because of clinical variation between patients. ...Approximately half of patients with TTD have photosensitivity, which correlates with a nudeotide excision repair (NER …
Cases without manifest ichthyosis are also identified as PBIDS. These syndromes defy rigorous definition because of clinical variatio …
84 results