Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
about
Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patientsDisruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethalityXeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patientsAdverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal developmentThe cerebro-morphological fingerprint of a progeroid syndrome: white matter changes correlate with neurological symptoms in xeroderma pigmentosumPrognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I.Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia.Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.Premature aging and cancer in nucleotide excision repair-disorders.Care of the newborn with ichthyosis.Growth and nutrition in children with trichothiodystrophy.Dynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy.A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic diseaseDNA repair mechanisms in dividing and non-dividing cells.Pollitt syndrome patients carry mutation in TTDN1.TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.Analysis of osteoarthritis in a mouse model of the progeroid human DNA repair syndrome trichothiodystrophy.Ocular manifestations of trichothiodystrophyHigh-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosumGTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyBone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy miceOcular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageAbnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.Trichothiodystrophy in a child with occult learning disorder.The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).DNA repair deficiency and neurological disease.Xeroderma pigmentosum-Cockayne syndrome complex.Recognition and diagnosis of neuro-ichthyotic syndromes.A review of UVB-mediated photosensitivity disorders.Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review.Inherited ichthyosis: Syndromic forms.Male fertility and skin diseases.A practical approach to ichthyoses with systemic manifestations.Trichothiodystrophy: role of a dermato-trchologist.Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation
P2860
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P2860
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Trichothiodystrophy: a systema ...... rum of clinical manifestations
@ast
Trichothiodystrophy: a systema ...... rum of clinical manifestations
@en
Trichothiodystrophy: a systema ...... rum of clinical manifestations
@nl
type
label
Trichothiodystrophy: a systema ...... rum of clinical manifestations
@ast
Trichothiodystrophy: a systema ...... rum of clinical manifestations
@en
Trichothiodystrophy: a systema ...... rum of clinical manifestations
@nl
prefLabel
Trichothiodystrophy: a systema ...... rum of clinical manifestations
@ast
Trichothiodystrophy: a systema ...... rum of clinical manifestations
@en
Trichothiodystrophy: a systema ...... rum of clinical manifestations
@nl
P2093
P2860
P356
P1476
Trichothiodystrophy: a systema ...... rum of clinical manifestations
@en
P2093
J J Digiovanna
K H Kraemer
P2860
P304
P356
10.1136/JMG.2008.058743
P407
P577
2008-10-01T00:00:00Z