High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair

(2010) P. T. Bradford et al.   JOURNAL OF MEDICAL GENETICS

Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl

(2010) Xiaolong Zhou et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

New Intrauterine Growth Curves Based on United States Data

(2010) I. E. Olsen et al.   PEDIATRICS

Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development

(2009) R Moslehi et al.   CLINICAL GENETICS

Trichothiodystrophy: From basic mechanisms to clinical implications

(2009) M. Stefanini et al.   DNA REPAIR

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

(2008) Wim J. Kleijer et al.   DNA REPAIR

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2)

(2008) Steffen Emmert et al.   EXPERIMENTAL DERMATOLOGY

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases withERCC2(XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

(2008) Jennifer Boyle et al.   HUMAN MUTATION

Down syndrome biochemical markers and screening for preeclampsia at first and second trimester: correlation with the week of onset and the severity

(2008) Jin Hee Kang et al.   PRENATAL DIAGNOSIS