Published in J Am Acad Dermatol on February 01, 2005
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience (2007) 2.55
Shining a light on xeroderma pigmentosum. J Invest Dermatol (2012) 2.33
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet (2008) 1.85
Trichoscopy in genetic hair shaft abnormalities. J Dermatol Case Rep (2008) 1.48
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development. Clin Genet (2009) 1.18
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat (2008) 1.18
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies. Prenat Diagn (2011) 0.92
Light microscopy of the hair: a simple tool to "untangle" hair disorders. Int J Trichology (2011) 0.91
Ocular manifestations of trichothiodystrophy. Ophthalmology (2011) 0.86
Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl. J Am Acad Dermatol (2010) 0.85
Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre. J Clin Pathol (2005) 0.83
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum. Eur J Hum Genet (2012) 0.80
Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype. J Invest Dermatol (2014) 0.78
Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation. Rare Dis (2013) 0.78
Growth and nutrition in children with trichothiodystrophy. J Pediatr Gastroenterol Nutr (2014) 0.77
On the traces of XPD: cell cycle matters - untangling the genotype-phenotype relationship of XPD mutations. Cell Div (2010) 0.77
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. Am J Hum Genet (2016) 0.75
Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review. Int J Trichology (2012) 0.75
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet (2006) 9.99
The genome of the choanoflagellate Monosiga brevicollis and the origin of metazoans. Nature (2008) 6.69
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet (2006) 4.55
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet (2007) 3.43
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet (2006) 2.83
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) (2002) 2.51
Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab (2004) 2.46
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet (2013) 2.42
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol (2012) 2.33
Shining a light on xeroderma pigmentosum. J Invest Dermatol (2012) 2.33
Hair follicle stem cell-specific PPARgamma deletion causes scarring alopecia. J Invest Dermatol (2008) 2.23
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet (2010) 2.14
Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells. Cancer Res (2002) 2.09
Hydroxychloroquine and lichen planopilaris: efficacy and introduction of Lichen Planopilaris Activity Index scoring system. J Am Acad Dermatol (2010) 1.94
Cellular and tissue localization of globotriaosylceramide in Fabry disease. Virchows Arch (2007) 1.91
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr (2003) 1.75
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet (2002) 1.71
Physiological characterization of neuropathy in Fabry's disease. Muscle Nerve (2002) 1.70
Trichotillomania. Dermatol Ther (2008) 1.68
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet (2011) 1.67
Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology (2005) 1.66
Activation of ATM depends on chromatin interactions occurring before induction of DNA damage. Nat Cell Biol (2008) 1.63
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol (2002) 1.60
Chromosomal protein HMGN1 enhances the rate of DNA repair in chromatin. EMBO J (2003) 1.59
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res (2002) 1.58
Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3). Mol Genet Metab (2009) 1.56
Alopecia areata investigational assessment guidelines--Part II. National Alopecia Areata Foundation. J Am Acad Dermatol (2004) 1.53
Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study. BMC Neurol (2008) 1.51
The "Fringe Sign" - A useful clinical finding in traction alopecia of the marginal hair line. Dermatol Online J (2011) 1.48
Xeroderma pigmentosum-variant patients from America, Europe, and Asia. J Invest Dermatol (2008) 1.46
Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol (2003) 1.44
The amount counts: distinguishing neutrophil-mediated and lymphocyte-mediated cicatricial alopecia by compound follicles. J Cutan Pathol (2011) 1.43
Pediatric Fabry disease. Pediatrics (2005) 1.43
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol (2002) 1.42
Summary of North American Hair Research Society (NAHRS)-sponsored Workshop on Cicatricial Alopecia, Duke University Medical Center, February 10 and 11, 2001. J Am Acad Dermatol (2003) 1.42
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. FEBS J (2010) 1.42
Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet (2003) 1.41
Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol (2009) 1.40
Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. Mutat Res (2006) 1.39
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet (2011) 1.38
Structural and molecular hair abnormalities in trichothiodystrophy. J Invest Dermatol (2006) 1.37
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum Mol Genet (2003) 1.34
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J Invest Dermatol (2002) 1.32
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. Hum Mutat (2006) 1.31
Melanin acts as a potent UVB photosensitizer to cause an atypical mode of cell death in murine skin. Proc Natl Acad Sci U S A (2004) 1.31
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis (2005) 1.30
Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas. Proc Natl Acad Sci U S A (2009) 1.27
White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions. Brain Res Bull (2003) 1.23
Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature. Surv Ophthalmol (2011) 1.23
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. Hum Mutat (2004) 1.22
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab (2008) 1.21
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics (2006) 1.20
Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis (2005) 1.20
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J Biol Chem (2003) 1.18
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat (2008) 1.18
A practical, algorithmic approach to diagnosing hair shaft disorders. Int J Dermatol (2011) 1.17
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. J Am Acad Dermatol (2008) 1.14
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging (2004) 1.12
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients. Hum Genet (2005) 1.12
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. Eur J Hum Genet (2004) 1.11
Screening for pharmacological chaperones in Fabry disease. Biochem Biophys Res Commun (2007) 1.11
Efficacy and safety of mycophenolate mofetil for lichen planopilaris. J Am Acad Dermatol (2010) 1.10
The cerebral vasculopathy of Fabry disease. J Neurol Sci (2007) 1.10
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke (2002) 1.10
Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol (2002) 1.09
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. Carcinogenesis (2005) 1.09
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. DNA Repair (Amst) (2008) 1.06
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone. Pharmacogenet Genomics (2008) 1.06
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. Hum Mutat (2011) 1.05
Early alterations of brain cellular energy homeostasis in Huntington disease models. J Biol Chem (2011) 1.05
The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine (Baltimore) (2005) 1.04
4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch Neurol (2012) 1.04
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol (2003) 1.03
Enzyme-replacement therapy for metabolic storage disorders. Lancet Neurol (2004) 1.02
Time series proteome profiling to study endoplasmic reticulum stress response. J Proteome Res (2008) 1.02
Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage. DNA Repair (Amst) (2007) 1.01
Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model. Acta Paediatr Suppl (2006) 1.01
The role of polymerase eta in somatic hypermutation determined by analysis of mutations in a patient with xeroderma pigmentosum variant. J Immunol (2002) 1.01
Algoriphagus machipongonensis sp. nov., co-isolated with a colonial choanoflagellate. Int J Syst Evol Microbiol (2012) 1.00
Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients. J Exp Med (2009) 0.99
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders. PLoS One (2009) 0.98
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease. Clin Chem (2005) 0.98
Genetic and clinical heterogeneity in eIF2B-related disorder. J Child Neurol (2008) 0.98
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease. J Pediatr (2008) 0.96
Skin cancers, blindness, and anterior tongue mass in African brothers. J Am Acad Dermatol (2008) 0.95
From proteomics to disease. Nat Genet (2004) 0.94