John J DiGiovanna

John J DiGiovanna

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John J DiGiovanna

Publications by authors named "John J DiGiovanna"

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Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging.

Obstet Gynecol 2019 Oct;134(4):814-819

National Human Genome Research Institute, National Institutes of Health, and the Laboratory of Cancer Biology and Genetics, Center for Cancer Research, and the Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland; and Howard University Medical Center, Washington, DC.

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http://dx.doi.org/10.1097/AOG.0000000000003490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768713PMC
October 2019

Predisposition to hematologic malignancies in patients with xeroderma pigmentosum.

Haematologica 2019 Aug 22. Epub 2019 Aug 22.

Laboratory of Cancer Biology and Genetics, National Cancer Institute, NIH;

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http://dx.doi.org/10.3324/haematol.2019.223370DOI Listing
August 2019

Mortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival.

Br J Haematol 2019 May 18;185(4):752-754. Epub 2018 Oct 18.

Hematology Branch, National Heart Lung and Blood Institute, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/bjh.15598DOI Listing
May 2019

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

JAMA Dermatol 2019 01;155(1):72-78

Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.

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http://dx.doi.org/10.1001/jamadermatol.2018.4473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439575PMC
January 2019

Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation.

PLoS One 2018 13;13(6):e0198011. Epub 2018 Jun 13.

Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0198011PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999106PMC
December 2018

Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman.

JAAD Case Rep 2018 Nov 14;4(10):1074-1076. Epub 2018 Nov 14.

Division of Dermatology, Dell Medical School, University of Texas at Austin, Austin, Texas.

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http://dx.doi.org/10.1016/j.jdcr.2018.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250902PMC
November 2018

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Neurol Genet 2018 Jun 8;4(3):e240. Epub 2018 Jun 8.

Department of Neurology (N.M.S., M.D.G.), University of California San Francisco, CA; Laboratory of Cancer Biology and Genetics (J.J.D., K.H.K.), Center for Cancer Research, National Cancer Institute, National Institutes of Health; NIH Undiagnosed Diseases Program (C.G., R.G., M.C.V.M., W.A.G., C.T.), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Department of Molecular Medicine (M.J.Y., E.A.W., L.J.N.), Center on Aging, The Scripps Research Institute, Jupiter, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994703PMC
June 2018

Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old man.

J Am Acad Dermatol 2018 03 28;78(3):637-642. Epub 2017 Sep 28.

Laboratory of Cancer Biology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2017.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815928PMC
March 2018

5-Fluorouracil for Actinic Keratosis Treatment and Chemoprevention: A Randomized Controlled Trial.

J Invest Dermatol 2017 06;137(6):1367-1370

Center for Dermatoepidemiology-111D, Veterans Affairs Medical Center, Providence, Rhode Island, USA; Department of Dermatology, Brown University, Providence, Rhode Island, USA.

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http://dx.doi.org/10.1016/j.jid.2016.12.029DOI Listing
June 2017

Basic Science Insights into Clinical Puzzles.

Dermatol Clin 2017 Jan;35(1):ix-x

DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, NIH, Building 37 Room 4002, Bethesda, MD 20892-4262, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07338635163011
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http://dx.doi.org/10.1016/j.det.2016.10.001DOI Listing
January 2017

Cutaneous adverse events in multiple sclerosis patients treated with daclizumab.

Neurology 2016 Mar 3;86(9):847-55. Epub 2016 Feb 3.

From the Neuroimmunology Clinic (I.C., J.O.) and the Neuroimmunological Diseases Unit (B.B.), National Institute of Neurological Disorders and Stroke, and the Laboratory of Pathology (C.-C.L., M.R.) and the Dermatology Branch (E.W.C., J.J.D.), Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda; and Department of Neurology (K.F.), Johns Hopkins School of Medicine, Baltimore, MD.

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http://dx.doi.org/10.1212/WNL.0000000000002417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4793779PMC
March 2016

Forty years of research on xeroderma pigmentosum at the US National Institutes of Health.

Photochem Photobiol 2015 Mar-Apr;91(2):452-9. Epub 2015 Jan 8.

Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.

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http://doi.wiley.com/10.1111/php.12345
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http://dx.doi.org/10.1111/php.12345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355260PMC
September 2015

Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome.

JAMA Dermatol 2015 Jul;151(7):770-4

Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland5Section Editor, "The Cutting Edge," JAMA Dermatology.

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http://dx.doi.org/10.1001/jamadermatol.2015.0215DOI Listing
July 2015

Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.

J Invest Dermatol 2015 Mar 7;135(3):734-741. Epub 2014 Oct 7.

Dermatology Branch, Center for Cancer Research, National Cancer Institute National Institutes of Health, Bethesda, MD USA.

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http://dx.doi.org/10.1038/jid.2014.440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530629PMC
March 2015

Cutaneous adverse effects associated with the tyrosine-kinase inhibitor cabozantinib.

JAMA Dermatol 2015 Feb;151(2):170-7

Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland4section editor, JAMA Dermatology.

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http://dx.doi.org/10.1001/jamadermatol.2014.2734DOI Listing
February 2015

Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.

Photodermatol Photoimmunol Photomed 2014 Apr-Jun;30(2-3):146-52. Epub 2014 Feb 19.

Dermatology Branch, Center for Cancer Research, National Institutes of Health, National Cancer Institute, Bethesda, MD, USA.

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http://doi.wiley.com/10.1111/phpp.12108
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http://dx.doi.org/10.1111/phpp.12108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334764PMC
October 2014

Growth and nutrition in children with trichothiodystrophy.

J Pediatr Gastroenterol Nutr 2014 Oct;59(4):458-64

*Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases †DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1097/MPG.0000000000000458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176511PMC
October 2014

Global contributions to the understanding of DNA repair and skin cancer.

J Invest Dermatol 2014 Oct 10;134(e1):E8-17. Epub 2014 Oct 10.

Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X156107
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http://dx.doi.org/10.1038/skinbio.2014.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334767PMC
October 2014

Rapid development of migratory, linear, and serpiginous lesions in association with immunosuppression.

J Am Acad Dermatol 2014 Jun;70(6):1130-4

DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01909622130129
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http://dx.doi.org/10.1016/j.jaad.2013.11.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4024165PMC
June 2014

High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

Pigment Cell Melanoma Res 2014 May 21;27(3):454-64. Epub 2014 Feb 21.

Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA; Division of Dermatology, Graduate School of Medicine, Kobe University, Kobe, Japan.

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http://dx.doi.org/10.1111/pcmr.12226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309892PMC
May 2014

Fluorouracil and other predictors of morpheaform basal cell carcinoma among high-risk patients: the Veterans Affairs Topical Tretinoin Chemoprevention Trial.

JAMA Dermatol 2014 Mar;150(3):332-4

Dermatoepidemiology Unit, VA Medical Center, Providence, Rhode Island2Department of Dermatology, Warren Alpert Medical School of Brown University, Providence, Rhode Island4Department of Dermatology, Rhode Island Hospital, Providence5Department of Epidemio.

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http://dx.doi.org/10.1001/jamadermatol.2013.5619DOI Listing
March 2014

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 Nov 11;110(48):19483-8. Epub 2013 Nov 11.

Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892.

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http://dx.doi.org/10.1073/pnas.1312088110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3845163PMC
November 2013

Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.

Otol Neurotol 2013 Sep;34(7):1230-6

Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1097/MAO.0b013e31829795e9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744623PMC
September 2013

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

Eur J Hum Genet 2013 Aug 12;21(8):831-7. Epub 2012 Dec 12.

DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute/NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1038/ejhg.2012.246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722669PMC
August 2013

Systemic retinoids in the management of ichthyoses and related skin types.

Dermatol Ther 2013 Jan-Feb;26(1):26-38

DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1111/j.1529-8019.2012.01527.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884695PMC
August 2013

Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.

Genet Med 2013 Jan 23;15(1):79-83. Epub 2012 Aug 23.

Division of Genetics and Metabolism, University of California, Irvine, Irvine, California, USA.

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http://www.nature.com/articles/gim201296
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http://dx.doi.org/10.1038/gim.2012.96DOI Listing
January 2013

Shining a light on xeroderma pigmentosum.

J Invest Dermatol 2012 Mar 5;132(3 Pt 2):785-96. Epub 2012 Jan 5.

DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892-4258, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153562
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http://dx.doi.org/10.1038/jid.2011.426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279615PMC
March 2012

Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells.

Photochem Photobiol 2011 May-Jun;87(3):729-33. Epub 2011 Mar 9.

DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/j.1751-1097.2011.00909.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3082610PMC
September 2011

Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.

Surv Ophthalmol 2011 Jul-Aug;56(4):348-61

Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.survophthal.2011.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137889PMC
August 2011

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

J Am Acad Dermatol 2010 Aug;63(2):323-8

DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1016/j.jaad.2010.03.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464913PMC
August 2010

Founder mutations in xeroderma pigmentosum.

J Invest Dermatol 2010 Jun;130(6):1491-3

Dermatology Branch, National Cancer Institute, Bethesda, MD 20892, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S0022202X1534854
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http://dx.doi.org/10.1038/jid.2010.76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3486739PMC
June 2010

Approach towards a new classification for ectodermal dysplasias: integration of the clinical and molecular knowledge.

Am J Med Genet A 2009 Sep;149A(9):2068-70

Division of Dermatopharmacology, Department of Dermatology, The Warren Alpert School of Medicine of Brown University, 593 Eddy Street, Providence, RI 02903, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32961
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http://dx.doi.org/10.1002/ajmg.a.32961DOI Listing
September 2009

2008 International Conference on Ectodermal Dysplasias Classification: conference report.

Am J Med Genet A 2009 Sep;149A(9):1958-69

Division of Craniofacial Genetics, Department of Pediatric Dentistry and Orthodontics, College of Dental Medicine, Medical University of South Carolina, 173 Ashley Avenue, Charleston, SC 29425, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32882
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http://dx.doi.org/10.1002/ajmg.a.32882DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2756677PMC
September 2009

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

Proc Natl Acad Sci U S A 2009 Apr 27;106(15):6279-84. Epub 2009 Mar 27.

Basic Research Laboratory, Laboratory of Pathology, Dermatology Branch, Medical Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.0812401106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2669353PMC
April 2009

Topical tretinoin therapy and all-cause mortality.

Arch Dermatol 2009 Jan;145(1):18-24

Dermatoepidemiology Unit, VA Medical Center, 111D, 830 Chalkstone Ave, Providence, RI 02908, USA.

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http://dx.doi.org/10.1001/archdermatol.2008.542DOI Listing
January 2009

Skin cancer chemoprevention with systemic retinoids: an adjunct in the management of selected high-risk patients.

Dermatol Ther 2006 Sep-Oct;19(5):306-14

Division of Dermatopharmacology, Department of Dermatology, Brown Medical School and Rhode Island Hospital, Providence, Rhode Island 02903, USA.

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http://dx.doi.org/10.1111/j.1529-8019.2006.00088.xDOI Listing
January 2007

Structural and molecular hair abnormalities in trichothiodystrophy.

J Invest Dermatol 2006 Oct 25;126(10):2210-6. Epub 2006 May 25.

DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892-4258, USA.

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http://dx.doi.org/10.1038/sj.jid.5700384DOI Listing
October 2006

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

Nat Genet 2006 Mar 29;38(3):337-42. Epub 2006 Jan 29.

Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.

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http://dx.doi.org/10.1038/ng1743DOI Listing
March 2006

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

Genet Med 2004 Nov-Dec;6(6):495-502

Genetic Studies Section, Skin Biology Laboratory, NIAMS, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.109701.GIM.0000145045.17711.1CDOI Listing
February 2005

Changing paradigms in dermatology: information technology.

Clin Dermatol 2003 Sep-Oct;21(5):375-82

Department of Dermatology, Brown Medical School, Providence, Rhode Island 02903, USA.

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http://dx.doi.org/10.1016/j.clindermatol.2003.08.006DOI Listing
August 2004

Ichthyosiform dermatoses: so many discoveries, so little progress.

J Am Acad Dermatol 2004 Jul;51(1 Suppl):S31-4

Division of Dermatopharmacology, Department of Dermatology, Brown Medical School, Providence, RI, USA.

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http://dx.doi.org/10.1016/j.jaad.2004.01.019DOI Listing
July 2004

Retinoid chemoprevention in high-risk skin cancer patients.

Dermatol Nurs 2004 Apr;16(2):117-20, 123-6; quiz 127

University Dermatology, Brown Medical School and Rhode Island Hospital, Providence, RI, USA.

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April 2004

"Curly" wood and tiger tails: an explanation for light and dark banding with polarization in trichothiodystrophy.

Arch Dermatol 2003 Sep;139(9):1189-92

Department of Dermatology, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20854, USA.

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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archderm.139.9.1189DOI Listing
September 2003

Ichthyosis: etiology, diagnosis, and management.

Am J Clin Dermatol 2003 ;4(2):81-95

Division of Dermatopharmacology, Brown Medical School and Rhode Island Hospital, Providence 02903, USA.

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http://dx.doi.org/10.2165/00128071-200304020-00002DOI Listing
June 2003

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

J Invest Dermatol 2003 Apr;120(4):601-9

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://dx.doi.org/10.1046/j.1523-1747.2003.12080.xDOI Listing
April 2003

Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1.

Exp Dermatol 2002 Dec;11(6):518-26

Laboratory of Skin Biology, National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.

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December 2002

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

J Invest Dermatol 2002 Sep;119(3):692-8

Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S0022202X1541780
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http://dx.doi.org/10.1046/j.1523-1747.2002.01855.xDOI Listing
September 2002

Topical enzyme therapy for skin diseases?

J Am Acad Dermatol 2002 Mar;46(3):463-6

Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bldg. 37, Room 3E24, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1067/mjd.2002.119102DOI Listing
March 2002