J. DiGiovanna

发表

Nucleotide Excision Repair Proteins Rapidly Accumulate but Fail to Persist in Human XP‐E (DDB2 Mutant) Cells

K. Kraemer, S. Emmert, Kyu-Seon Oh, 2011, Photochemistry and photobiology.

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.

Sikandar G. Khan, R. Schiffmann, C. Brewer, 2009, DNA repair.

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer‐prone xeroderma pigmentosum vs. non‐cancer‐prone trichothiodystrophy

Sikandar G. Khan, J. Jagdeo, T. Ueda, 2008, Human mutation.

Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.

Sikandar G. Khan, H. Inui, A. Sarasin, 2006, Carcinogenesis.

Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum

Sikandar G. Khan, M. Tucker, A. Goldstein, 2012, European Journal of Human Genetics.

Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging

K. Kraemer, S. G. Khan, D. Tamura, 2020, Journal of Endocrinological Investigation.

Changing paradigms in dermatology: information technology.

J. DiGiovanna, S. Dill, 2003, Clinics in dermatology.

A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

S. Bale, P. Steinert, J. DiGiovanna, 1992, Cell.

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

C. Bodemer, M. Akiyama, H. Shimizu, 2010, Journal of the American Academy of Dermatology.

Retinoids for the future: oncology.

J. DiGiovanna, 1992, Journal of the American Academy of Dermatology.

Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin.

R. Tarone, K. Kraemer, J. DiGiovanna, 1988, The New England journal of medicine.

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

W. Linehan, W. Linehan, J. DiGiovanna, 2015, JAMA dermatology.

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

Sikandar G. Khan, K. Oetjen, K. Kraemer, 2018, British journal of haematology.

Growth and Nutrition in Children With Trichothiodystrophy

K. Kraemer, D. Tamura, J. DiGiovanna, 2014, Journal of pediatric gastroenterology and nutrition.

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

Sikandar G. Khan, M. Raffeld, S. Beltaifa, 2014, Pigment cell & melanoma research.

Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.

Sikandar G. Khan, J. Clayton, H. Inui, 2013, Ophthalmology.

Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

Sikandar G. Khan, H. Inui, L. Grossman, 2002, The Journal of investigative dermatology.

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

S. Bale, J. Uitto, G. Richard, 2003, The Journal of investigative dermatology.

Abnormal retinal function associated with fenretinide, a synthetic retinoid.

M. Kaiser-Kupfer, J. DiGiovanna, G. Peck, 1986, Archives of ophthalmology.

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

S. Bale, P. Steinert, J. DiGiovanna, 1995, Nature Genetics.

Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.

K. Kraemer, S. Emmert, Kyu-Seon Oh, 2011, The Journal of investigative dermatology.

Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum.

E. Jaffe, M. Raffeld, K. Kraemer, 2010, The Journal of investigative dermatology.

Kaposi's sarcoma. Retrospective study of 90 cases with particular emphasis on the familial occurrence, ethnic background and prevalence of other diseases.

B. Safai, J. DiGiovanna, 1981, The American journal of medicine.

Protein tyrosine kinase and protein phosphotyrosine phosphatase in normal and psoriatic skin.

G. Chader, J. DiGiovanna, S. Gentleman, 1984, Biochimica et biophysica acta.

Suppression of frequently recurring genital herpes. A placebo-controlled double-blind trial of oral acyclovir.

D. Alling, S. Straus, J. DiGiovanna, 1984 .

Failure of lysine in frequently recurrent herpes simplex infection. Treatment and prophylaxis.

J. DiGiovanna, H. Blank, 1984, Archives of dermatology.

Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

A. Goldstein, S. Bale, V. Kimonis, 1997, American journal of medical genetics.

Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.

Z. Argényi, J. DiGiovanna, P. Fleckman, 2008, Journal of the American Academy of Dermatology.

Cutaneous manifestations of end-stage renal disease.

J. DiGiovanna, L. Robinson-Bostom, 2000, Journal of the American Academy of Dermatology.

Chemoprevention of Skin Cancer in Xeroderma Pigmentosum

K. Kraemer, J. DiGiovanna, G. Peck, 1992, The Journal of dermatology.

Treatment and prevention of basal cell carcinoma with oral isotretinoin.

J. DiGiovanna, G. Peck, E. G. Gross, 1988, Journal of the American Academy of Dermatology.

Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency

Sikandar G. Khan, P. Meltzer, J. Butman, 2013, Human mutation.

Systemic retinoid therapy.

J. DiGiovanna, 2001, Dermatologic clinics.

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

S. Bale, V. Kimonis, J. DiGiovanna, 2012, Genetics in Medicine.

Clinical heterogeneity in epidermolytic hyperkeratosis.

S. Bale, J. DiGiovanna, 1994, Archives of dermatology.

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.

S. Bale, P. Steinert, Jun-Mo Yang, 1994, American journal of human genetics.

Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.

S. Bale, P. Steinert, Jun-Mo Yang, 1994, The Journal of investigative dermatology.

Fine mapping of the Darier's disease locus on chromosome 12q.

S. Bale, G. Richard, O. Mcbride, 1994, The Journal of investigative dermatology.

Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.

S. Bale, J. DiGiovanna, J. Compton, 1994, American journal of human genetics.

Ichthyosis: etiology, diagnosis, and management.

J. DiGiovanna, L. Robinson-Bostom, 2003, American journal of clinical dermatology.

Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape

Sikandar G. Khan, K. Kraemer, D. Tamura, 2021, Pediatric dermatology.

Retinoid chemoprevention in patients at high risk for skin cancer.

J. DiGiovanna, John J. DiGiovanna, 2001, Medical and pediatric oncology.

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

S. Mehta, S. Bale, V. Kimonis, 2004, Genetics in Medicine.

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons

Sikandar G. Khan, R. Gatti, K. Kraemer, 2013, Proceedings of the National Academy of Sciences.

Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health

D. Tamura, J. DiGiovanna, S. G. Khan, 2017, The British journal of dermatology.

Acute depression from isotretinoin.

D. Rubinow, J. DiGiovanna, G. Peck, 1990, Journal of the American Academy of Dermatology.

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship

R. Schiffmann, N. Patronas, K. Kraemer, 2007, Neuroscience.

Systemic retinoids in the management of ichthyoses and related skin types

J. Toro, T. Mauro, M. Schmuth, 2013, Dermatologic therapy.

Retinoid Treatment of the Disorders of Cornification

J. DiGiovanna, 2007 .

Topical enzyme therapy for skin diseases?

K. Kraemer, J. DiGiovanna, 2002, Journal of the American Academy of Dermatology.

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.

S. Bale, V. Kimonis, Jun-Mo Yang, 1994, The Journal of investigative dermatology.

Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

Sikandar G. Khan, R. Schiffmann, A. Paller, 2009, Archives of dermatology.

Skin cancers, blindness, and anterior tongue mass in African brothers.

Sikandar G. Khan, K. Kraemer, D. Tamura, 2008, Journal of the American Academy of Dermatology.

Xeroderma Pigmentosum: Spinal Cord Astrocytoma with 9-Year Survival after Radiation and Isotretinoin Therapy

N. Patronas, K. Kraemer, J. DiGiovanna, 1998, Journal of cutaneous medicine and surgery.

Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis

Sikandar G. Khan, S. Paul, K. Kraemer, 2022, American journal of medical genetics. Part A.

Trichothiodystrophy hair shafts display distinct ultrastructural features

Sikandar G. Khan, R. Rice, K. Kraemer, 2022, Experimental dermatology.

Management of Xeroderma Pigmentosum

K. Kraemer, D. Tamura, J. DiGiovanna, 2018, DNA Repair Disorders.

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

Sikandar G. Khan, K. Kraemer, D. Tamura, 2014, The Journal of investigative dermatology.

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

Sikandar G. Khan, M. Tucker, A. Goldstein, 2011, Prenatal diagnosis.

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

Sikandar G. Khan, N. Patronas, W. Zein, 2010, Journal of the American Academy of Dermatology.

Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

A. Goldstein, S. Bale, J. DiGiovanna, 1996, Cancer research.

Extraspinal tendon and ligament calcification associated with long-term therapy with etretinate.

L. Gerber, J. DiGiovanna, G. Peck, 1986, The New England journal of medicine.

Tetracycline and Staining of the Teeth-Reply

J. DiGiovanna, G. Peck, S. Poliak, 1986 .

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

H. Parnes, A. Apolo, W. Dahut, 2015, JAMA dermatology.

Darier disease – novel mutations in ATP2A2 and genotype–phenotype correlation

S. Bale, J. Uitto, G. Richard, 2001, Experimental dermatology.

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

S. Bale, P. Itin, G. Richard, 1998, Nature Genetics.

Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health

K. Kraemer, J. DiGiovanna, 2015, Photochemistry and photobiology.

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

Sikandar G. Khan, J. Egly, T. Ueda, 2012, European Journal of Human Genetics.

Ocular manifestations of trichothiodystrophy.

Sikandar G. Khan, J. Clayton, W. Zein, 2011, Ophthalmology.

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

J. DiGiovanna, L. Sperling, 2003, Archives of dermatology.

Founder mutations in xeroderma pigmentosum.

K. Kraemer, D. Tamura, J. DiGiovanna, 2010, The Journal of investigative dermatology.

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies

S. Bale, J. Toro, J. DiGiovanna, 2000, Human Genetics.

Retinoid chemoprevention in the high-risk patient.

J. DiGiovanna, 1998, Journal of the American Academy of Dermatology.

Isotretinoin effects on bone.

J. DiGiovanna, 2001, Journal of the American Academy of Dermatology.

Weight change and adverse event incidence with a low-dose oral contraceptive: two randomized, placebo-controlled trials.

J. DiGiovanna, P. Coney, R. Langley, 2001, Contraception.

Etretinate. Persistent serum levels after long-term therapy.

J. DiGiovanna, G. Peck, L. Zech, 1989, Archives of dermatology.

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

Sikandar G. Khan, N. Patronas, T. Lehky, 2021, BMC Neurology.

Posttransplantation skin cancer: scope of the problem, management, and role for systemic retinoid chemoprevention.

J. DiGiovanna, 1998, Transplantation proceedings.

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

A. Apolo, J. DiGiovanna, D. Pichard, 2014, Journal of the American Academy of Dermatology.

Arthritis in patients with psoriasis treated with gamma-interferon.

L. Gerber, J. DiGiovanna, G. Peck, 1992, The Journal of rheumatology.

Effect of a single course of isotretinoin therapy on bone mineral density in adolescent patients with severe, recalcitrant, nodular acne.

Sewon Kang, A. Menter, C. Langman, 2004, Journal of the American Academy of Dermatology.

Oral Synthetic Retinoid Treatment in Children

J. DiGiovanna, G. Peck, 1983, Pediatric dermatology.

Normal vitamin D levels can be maintained despite rigorous photoprotection: six years' experience with xeroderma pigmentosum.

K. Kraemer, J. DiGiovanna, R B Sollitto, 1997, Journal of the American Academy of Dermatology.

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents

R. Lewis, P. Elias, A. Paller, 2020, Pediatric dermatology.

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Colin N A Palmer, Ann Sergeant, Hans Bisgaard, 2006, Nature Genetics.

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

K. Kraemer, D. Tamura, J. DiGiovanna, 2008, Journal of Medical Genetics.

Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9

M. Greene, S. Bale, J. Mulvihill, 1992, Cell.

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

R. Silverman, S. Bale, J. Uitto, 2001, The Journal of investigative dermatology.

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

E. Jabs, S. Bale, J. Uitto, 2002, American journal of human genetics.

Treatment of nevus comedonicus with ammonium lactate lotion.

J. DiGiovanna, G. Peck, G. Milton, 1989, Journal of the American Academy of Dermatology.

Minocycline-associated tooth discoloration in young adults.

J. DiGiovanna, G. Peck, E. G. Gross, 1985, JAMA.

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

D. Foell, S. Holland, S. Paul, 2018, The Journal of clinical investigation.

Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction.

A. Goldstein, J. DiGiovanna, L. Wexler, 1997, American journal of medical genetics.

Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC).

A. Goldstein, S. Bale, J. DiGiovanna, 1994, American journal of medical genetics.

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

K. Kraemer, D. Tamura, J. DiGiovanna, 2011, Survey of ophthalmology.

Clearing of melanoma in situ with intralesional interferon alfa in a patient with xeroderma pigmentosum.

M. Turner, M. Roth, K. Kraemer, 1994, Archives of dermatology.

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

S. Bale, D. Goudie, C. Munro, 2006, Nature Genetics.

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

Sikandar G. Khan, M. Tucker, A. Goldstein, 2010, Journal of Medical Genetics.

Sun exposure and basal cell carcinomas in the nevoid basal cell carcinoma syndrome.

A. Goldstein, S. Bale, J. DiGiovanna, 1993, Journal of the American Academy of Dermatology.

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

J. DiGiovanna, R. Campbell, 2006, Dermatologic therapy.

Chemoprevention of basal cell carcinoma with isotretinoin.

J. DiGiovanna, G. Peck, E. G. Gross, 1982, Journal of the American Academy of Dermatology.

Chemoprevention of Basal and Squamous Cell Carcinoma With a Single Course of Fluorouracil, 5%, Cream: A Randomized Clinical Trial

Grant D. Huang, R. Dellavalle, M. Weinstock, 2018, JAMA dermatology.

Tretinoin and the prevention of keratinocyte carcinoma (Basal and squamous cell carcinoma of the skin): a veterans affairs randomized chemoprevention trial.

M. Weinstock, J. DiGiovanna, M. Naylor, 2012, The Journal of investigative dermatology.

Topical tretinoin therapy and all-cause mortality.

M. Weinstock, R. Lew, J. DiGiovanna, 2009, Archives of dermatology.

Defective DNA repair in humans: clinical and molecular studies of xeroderma pigmentosum.

R. Parshad, R. Tarone, D. Brash, 1990, Basic life sciences.

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas

Sikandar G. Khan, M. Raffeld, M. C. Hollander, 2009, Proceedings of the National Academy of Sciences.

Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy

S. Schlücker, I. W. Levin, I. Levin, 2006, Biopolymers.

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

K. Kraemer, J. DiGiovanna, 2014, The Journal of investigative dermatology.

Cancer-associated genodermatoses and familial cancer syndromes with cutaneous manifestations.

S. Bale, J. DiGiovanna, 2001, Clinics in dermatology.

Activated STING in a vascular and pulmonary syndrome.

Ha Won Kim, J. Hughes, J. McElwee, 2014, The New England journal of medicine.

Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders.

M. Weinstock, J. DiGiovanna, J. Corwin, 2016, Journal of the American Academy of Dermatology.

2008 International Conference on Ectodermal Dysplasias Classification: Conference report

J. DiGiovanna, C. Salinas, J. T. Wright, 2009, American journal of medical genetics. Part A.

Xeroderma pigmentosum-variant patients from America, Europe, and Asia.

Roger Woodgate, Hiroki Inui, Wen Hao Wu, 2008, The Journal of investigative dermatology.

Osteoporosis is a toxic effect of long-term etretinate therapy.

S. Steinberg, J. DiGiovanna, J. Reynolds, 1995, Archives of dermatology.

SHINING A LIGHT ON XERODERMA PIGMENTOSUM

K. Kraemer, J. DiGiovanna, 2012, The Journal of investigative dermatology.

Epidermolytic hyperkeratosis: applied molecular genetics.

S. Bale, J. DiGiovanna, 1994, The Journal of investigative dermatology.

Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts

Yvonne A. Evrard, Michael W. Lloyd, Jeffrey H. Chuang, 2021, Nature Genetics.

Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in Caucasians.

F. Collins, T. Myers, E. Jaffe, 2019, Blood.

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q

C. Amos, S. Bale, O. Mcbride, 1992, Nature Genetics.

Exacerbation of Darier's disease by lithium carbonate.

J. Nordlund, J. DiGiovanna, G. Peck, 1990, Journal of the American Academy of Dermatology.

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

Sikandar G. Khan, K. Kraemer, D. Tamura, 2018, PloS one.

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease

D. Adams, C. Toro, C. Tifft, 2020, American journal of medical genetics. Part A.

A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases.

P. Elias, P. Steinert, E. Candi, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Predisposition to hematologic malignancies in patients with xeroderma pigmentosum

Sikandar G. Khan, K. Oetjen, K. Calvo, 2020, Haematologica.

Fracturing support for the role of systemic retinoid therapy as a cause of bone demineralization.

J. DiGiovanna, 2010, Archives of dermatology.

Cutaneous adverse events in multiple sclerosis patients treated with daclizumab

M. Raffeld, B. Bielekova, J. DiGiovanna, 2016, Neurology.

Xeroderma Pigmentosum: A Model for Human Premature Aging.

Sikandar G. Khan, K. Kraemer, D. Tamura, 2021, The Journal of investigative dermatology.

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.

J. Lugassy, P. Itin, D. Bercovich, 2008, The Journal of investigative dermatology.

Qualitative and quantitative analysis of cytosol retinoid binding proteins in human skin.

G. Chader, J. DiGiovanna, R. Fletcher, 1985, The Journal of investigative dermatology.

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Sikandar G. Khan, R. Stephens, S. Seneca, 2016, American journal of human genetics.

Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients

Sikandar G. Khan, K. Kraemer, D. Tamura, 2014, Photodermatology, photoimmunology & photomedicine.

Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy.

R. Schiffmann, K. Kraemer, J. DiGiovanna, 2004, Journal of the American Academy of Dermatology.

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)

Sikandar G. Khan, H. Fine, N. Patronas, 2013, Acta Neuropathologica Communications.

Etretinate: effect of milk intake on absorption.

J. DiGiovanna, G. Peck, M. Ruddel, 1984, The Journal of investigative dermatology.

Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.

S. Bale, P. Itin, G. Richard, 1997, The Journal of investigative dermatology.

Original research article Weight change and adverse event incidence with a low-dose oral contraceptive: two randomized, placebo-controlled trials<

J. DiGiovanna, P. Coney, R. Langley, 2001 .

An unusual presentation of glomeruloid hemangioma in a patient with VHL syndrome: A case report and review of literature

W. Linehan, P. Pinto, Z. Abdullaev, 2013 .

Histopathology of the Inner Ear in Patients With Xeroderma Pigmentosum and Neurologic Degeneration

J. Nadol, C. Brewer, K. Kraemer, 2013, Otology and Neurotology.

Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.

Sikandar G. Khan, R. Schiffmann, S. Merchant, 2013, Brain : a journal of neurology.

Failure of interferon alfa and isotretinoin combination therapy in the nevoid basal cell carcinoma syndrome.

J. DiGiovanna, R. B. Sollitto, 1996, Archives of dermatology.

Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases.

S. Bale, J. DiGiovanna, J. Compton, 1996, The Journal of investigative dermatology.

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

S. Bale, J. DiGiovanna, J. Compton, 2002, Experimental dermatology.

Phase 1 Clinical Trials

J. DiGiovanna, J. Muglia, 1998, Journal of cutaneous medicine and surgery.

Reliability of counting actinic keratoses before and after brief consensus discussion: the VA topical tretinoin chemoprevention (VATTC) trial.

J Kalivas, M A Weinstock, M. Weinstock, 2001, Archives of dermatology.

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

Rena A. Godfrey, C. Toro, W. Gahl, 2018, Neurology: Genetics.

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)

Sikandar G. Khan, H. Fine, S. Hewitt, 2013, Acta neuropathologica communications.

Development and Initial Validation of a Novel System to Assess Ichthyosis Severity.

C. Nelson, A. Paller, K. Choate, 2022, JAMA dermatology.

Executive Summary: Consensus Recommendations for the Use of Retinoids in Ichthyosis and Other Disorders of Cornification in Children and Adolescents.

P. Elias, A. Paller, D. Siegel, 2021, Journal of the American Academy of Dermatology.

Structural and molecular hair abnormalities in trichothiodystrophy.

Sebastian Schlücker, Ira W Levin, I. W. Levin, 2006, The Journal of investigative dermatology.

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

Sikandar G. Khan, A. Goldstein, M. Landi, 2019, JAMA dermatology.

Knowledge is power

K. Kraemer, J. DiGiovanna, 2022, The British journal of dermatology.

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

S. Bale, P. Itin, J. Uitto, 2002, The Journal of investigative dermatology.

Skinning the Surface of Bone Abnormalities in Trichothiodystrophy

M. Collins, K. Kraemer, D. Tamura, 2013 .

Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts

Steven B. Neuhauser, Yvonne A. Evrard, Michael W. Lloyd, 2019, Nature Genetics.

PDXNet portal: patient-derived Xenograft model, data, workflow and tool discovery

Yvonne A. Evrard, David M. Rocke, Jessica J. Andrews, 2022, NAR cancer.

PDXNet portal: patient-derived Xenograft model, data, workflow and tool discovery

Steven B. Neuhauser, Yvonne A. Evrard, Michael W. Lloyd, 2021, bioRxiv.

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

K. Kraemer, D. Tamura, J. DiGiovanna, 2008, Journal of Medical Genetics.

Adverse reaction to fenretinide, a synthetic retinoid.

J. DiGiovanna, G. Peck, E. G. Gross, 1991, Archives of dermatology.

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

I. Manoli, J. Cohen, K. Kraemer, 2017, Journal of the American Academy of Dermatology.

Ichthyosis

J. DiGiovanna, L. Robinson-Bostom, 2003, American journal of clinical dermatology.

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

Sikandar G. Khan, M. Raffeld, S. Beltaifa, 2014, Pigment cell & melanoma research.

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

H. Parnes, A. Apolo, W. Dahut, 2015, JAMA dermatology.

Ocular manifestations of trichothiodystrophy.

Sikandar G. Khan, J. Clayton, W. Zein, 2011, Ophthalmology.

Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging.

Sikandar G. Khan, A. Goldstein, K. Kraemer, 2019, Obstetrics and gynecology.

Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.

K. Kraemer, S. Emmert, Kyu-Seon Oh, 2011, The Journal of investigative dermatology.

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

R. Dellavalle, M. Weinstock, S. Swetter, 2017, The Journal of investigative dermatology.

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers

Sikandar G. Khan, H. Fassihi, D. Tamura, 2023, Frontiers in oncology.

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome

M. Fay, D. Follmann, C. Brewer, 2023, Journal of Clinical Investigation.

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

Sikandar G. Khan, M. Tucker, A. Goldstein, 2010, Journal of Medical Genetics.

Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients

Sikandar G. Khan, K. Kraemer, J. DiGiovanna, 2015, Experimental dermatology.