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1
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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
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Nat Genet
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2006
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9.99
|
|
2
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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
|
Nat Genet
|
2006
|
4.55
|
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3
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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
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J Am Acad Dermatol
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2010
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2.87
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4
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Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
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J Med Genet
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2010
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2.14
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5
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Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
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Am J Hum Genet
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2002
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1.71
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6
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Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
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J Invest Dermatol
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2008
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1.46
|
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7
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Structural and molecular hair abnormalities in trichothiodystrophy.
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J Invest Dermatol
|
2006
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1.37
|
|
8
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Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
|
J Invest Dermatol
|
2002
|
1.32
|
|
9
|
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
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Carcinogenesis
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2005
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1.30
|
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10
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Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy.
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J Am Acad Dermatol
|
2005
|
1.30
|
|
11
|
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.
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J Am Acad Dermatol
|
2008
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1.14
|
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12
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Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
|
J Invest Dermatol
|
2003
|
1.03
|
|
13
|
Skin cancers, blindness, and anterior tongue mass in African brothers.
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J Am Acad Dermatol
|
2008
|
0.95
|
|
14
|
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
|
Proc Natl Acad Sci U S A
|
2013
|
0.93
|
|
15
|
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
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J Invest Dermatol
|
2002
|
0.93
|
|
16
|
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1.
|
Exp Dermatol
|
2002
|
0.92
|
|
17
|
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.
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Prenat Diagn
|
2011
|
0.92
|
|
18
|
Skin cancer chemoprevention with systemic retinoids: an adjunct in the management of selected high-risk patients.
|
Dermatol Ther
|
2006
|
0.92
|
|
19
|
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
|
Brain
|
2013
|
0.91
|
|
20
|
Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.
|
J Invest Dermatol
|
2010
|
0.87
|
|
21
|
Ocular manifestations of trichothiodystrophy.
|
Ophthalmology
|
2011
|
0.86
|
|
22
|
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.
|
Pigment Cell Melanoma Res
|
2014
|
0.86
|
|
23
|
"Curly" wood and tiger tails: an explanation for light and dark banding with polarization in trichothiodystrophy.
|
Arch Dermatol
|
2003
|
0.85
|
|
24
|
Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.
|
J Am Acad Dermatol
|
2010
|
0.85
|
|
25
|
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.
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Photodermatol Photoimmunol Photomed
|
2014
|
0.83
|
|
26
|
Founder mutations in xeroderma pigmentosum.
|
J Invest Dermatol
|
2010
|
0.80
|
|
27
|
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.
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Eur J Hum Genet
|
2012
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0.80
|
|
28
|
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
|
Eur J Hum Genet
|
2012
|
0.80
|
|
29
|
Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.
|
Otol Neurotol
|
2013
|
0.80
|
|
30
|
Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum.
|
J Invest Dermatol
|
2009
|
0.79
|
|
31
|
Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells.
|
Photochem Photobiol
|
2011
|
0.79
|
|
32
|
Forty years of research on xeroderma pigmentosum at the US National Institutes of Health.
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Photochem Photobiol
|
2015
|
0.79
|
|
33
|
Growth and nutrition in children with trichothiodystrophy.
|
J Pediatr Gastroenterol Nutr
|
2014
|
0.77
|
|
34
|
Retinoid chemoprevention in high-risk skin cancer patients.
|
Dermatol Nurs
|
2004
|
0.77
|
|
35
|
2008 International Conference on Ectodermal Dysplasias Classification: conference report.
|
Am J Med Genet A
|
2009
|
0.77
|
|
36
|
Fracturing support for the role of systemic retinoid therapy as a cause of bone demineralization.
|
Arch Dermatol
|
2010
|
0.75
|
|
37
|
Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.
|
Exp Dermatol
|
2015
|
0.75
|
|
38
|
Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging.
|
Obstet Gynecol
|
2019
|
0.75
|
|
39
|
Topical enzyme therapy for skin diseases?
|
J Am Acad Dermatol
|
2002
|
0.75
|