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John DiGiovanna

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John J DiGiovanna; Theodora Mauro; Leonard M Milstone; Matthias Schmuth; Jorge R Toro
Systemic retinoids in the management of ichthyoses and related skin types.
Mariam B Totonchy; Edythe A Wiggs; Christopher K Zalewski; Porcia T Bradford; John J DiGiovanna; Andrew J Griffith; Sikandar G Khan; Kenneth H Kraemer; Saumil N Merchant; Joseph Nadol; Matthew S Pantell; Tyler Mark Pierson; Raphael Schiffmann; Deborah Tamura; Carmen C Brewer
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
Deborah Tamura; Margaret A Tucker; Takahiro Ueda; Melissa Merideth; Kyu-Seon Oh; Mansi Sarihan; Jennifer Boyle; John J DiGiovanna; Alisa M Goldstein; Sikandar G Khan; Kenneth H Kraemer
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.

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2013: John J DiGiovanna; Theodora Mauro; Leonard M Milstone; Matthias Schmuth; Jorge R Toro
Systemic retinoids in the management of ichthyoses and related skin types.
Dermatologic therapy 2013;26(1):26-38.
2013: Mariam B Totonchy; Edythe A Wiggs; Christopher K Zalewski; Porcia T Bradford; John J DiGiovanna; Andrew J Griffith; Sikandar G Khan; Kenneth H Kraemer; Saumil N Merchant; Joseph Nadol; Matthew S Pantell; Tyler Mark Pierson; Raphael Schiffmann; Deborah Tamura; Carmen C Brewer
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
Brain : a journal of neurology 2013;136(Pt 1):194-208.
2012: Deborah Tamura; Margaret A Tucker; Takahiro Ueda; Melissa Merideth; Kyu-Seon Oh; Mansi Sarihan; Jennifer Boyle; John J DiGiovanna; Alisa M Goldstein; Sikandar G Khan; Kenneth H Kraemer
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
European journal of human genetics : EJHG 2012;20(12):1308-10.
2012: John J DiGiovanna; Kenneth H Kraemer
Shining a light on xeroderma pigmentosum.
The Journal of investigative dermatology 2012;132(3 Pt 2):785-96.
2011: Brian P Brooks; Chi-Chao Chan; Janine A Clayton; John J DiGiovanna; Casey Hadsall; Sikandar G Khan; Kyu-Seon Oh; John Rowan; Deborah Tamura; Amy H Thompson; Takahiro Ueda; Wadih M Zein; Delphine Blain; Kristen E Bowles; Jennifer Boyle; Kenneth H Kraemer
Ocular manifestations of trichothiodystrophy.
Ophthalmology 2011;118(12):2335-42.
2011: Deborah Tamura; Margaret A Tucker; Takahiro Ueda; Xiaolong Zhou; Jennifer Boyle; Brian P Brooks; John J DiGiovanna; Alisa M Goldstein; Sikandar G Khan; Melissa Merideth; Roxana Moslehi; Kyu-Seon Oh; Kenneth H Kraemer
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.
Prenatal diagnosis 2011;31(11):1046-53.
2011: Hema L Ramkumar; Deborah Tamura; Brian P Brooks; Xiaoguang Cao; John J DiGiovanna; Kenneth H Kraemer; Chi-Chao Chan
Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.
Survey of ophthalmology 2011;56(4):348-61.
2011: Kyu-Seon Oh; Kyoko Imoto; Steffen Emmert; Deborah Tamura; John J DiGiovanna; Kenneth H Kraemer
Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells.
Photochemistry and photobiology 2011;87(3):729-33.
2011: Kyu-Seon Oh; Deborah Tamura; John J DiGiovanna; Steffen Emmert; Kenneth H Kraemer
Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.
The Journal of investigative dermatology 2011;131(3):785-8.
2011: Porcia T Bradford; Alisa M Goldstein; Deborah Tamura; Sikandar G Khan; Takahiro Ueda; Jennifer Boyle; Kyu-Seon Oh; Kyoko Imoto; Hiroki Inui; Shin-Ichi Moriwaki; Steffen Emmert; Kristen M Pike; Arati Raziuddin; Teri M Plona; John J DiGiovanna; Margaret A Tucker; Kenneth H Kraemer
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
Journal of medical genetics 2011;48(3):168-76.
2010: Xiaolong Zhou; Sikandar G Khan; Deborah Tamura; Nicholas J Patronas; Wadih M Zein; Brian P Brooks; Kenneth H Kraemer; John J DiGiovanna
Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.
Journal of the American Academy of Dermatology 2010;63(2):323-8.
2010: Deborah Tamura; John J DiGiovanna; Kenneth H Kraemer
Founder mutations in xeroderma pigmentosum.
The Journal of investigative dermatology 2010;130(6):1491-3.
2010: John J DiGiovanna
Fracturing support for the role of systemic retinoid therapy as a cause of bone demineralization.
Archives of dermatology 2010;146(5):551-3.
2010: Roxana Moslehi; C Signore; D Tamura; J L Mills; John J DiGiovanna; Margaret A Tucker; J Troendle; T Ueda; Jay O Boyle; S G Khan; K-S Oh; Alisa M Goldstein; K H Kraemer
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development.
Clinical genetics 2010;77(4):365-73.
2009: Stéphanie Christen-Zaech; John J DiGiovanna; Kyoko Imoto; Sikandar G Khan; Kenneth H Kraemer; Kyu-Seon Oh; Nickolas J Patronas; Raphael Schiffmann; Deborah Tamura; Jennifer Boyle; Amy S Paller
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.
Archives of dermatology 2009;145(11):1285-91.
2009: John J DiGiovanna; Manuela Priolo; Peter Itin
Approach towards a new classification for ectodermal dysplasias: integration of the clinical and molecular knowledge.
American journal of medical genetics. Part A 2009;149A(9):2068-70.
2009: Yun Wang; John J DiGiovanna; Jere B Stern; Thomas Hornyak; Mark Raffeld; Sikandar G Khan; Kyu-Seon Oh; M Christine Hollander; Philip A Dennis; Kenneth H Kraemer
Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(15):6279-84.
2009: Sikandar G Khan; Kyu-Seon Oh; Steffen Emmert; Kyoko Imoto; Deborah Tamura; John J DiGiovanna; Tala Shahlavi; Najealicka Armstrong; Carl Baker; Marcy Neuburg; Chris Zalewski; Carmen Brewer; Edythe Wiggs; Raphael Schiffmann; Kenneth H Kraemer
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
DNA repair 2009;8(1):114-25.
2008: Priya Mahindra; John J DiGiovanna; Deborah Tamura; Jaime Brahim; Thomas Hornyak; Jere B Stern; Chyi-Chia Richard Lee; Sikandar G Khan; Brian P Brooks; Janine A Smith; Brian P Driscoll; Andrew D Montemarano; Kate Sugarman; Kenneth H Kraemer
Skin cancers, blindness, and anterior tongue mass in African brothers.
Journal of the American Academy of Dermatology 2008;59(5):881-6.
2008: S Faghri; D Tamura; Kenneth H Kraemer; John J DiGiovanna
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
Journal of medical genetics 2008;45(10):609-21.
2008: Jennifer Boyle; Takahiro Ueda; Kyu-Seon Oh; Kyoko Imoto; Deborah Tamura; Jared Jagdeo; Sikandar G Khan; Carine Nadem; John J DiGiovanna; Kenneth H Kraemer
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
Human mutation 2008;29(10):1194-208.
2008: Hiroki Inui; Kyu-Seon Oh; Carine Nadem; Takahiro Ueda; Sikandar G Khan; Ahmet Metin; Engin Gozukara; Steffen Emmert; Hanoch Slor; David B Busch; Carl Baker; John J DiGiovanna; Deborah Tamura; Cornelia S Seitz; Alexei Gratchev; Wen Hao Wu; Kee Yang Chung; Hye Jin Chung; Esther Azizi; Roger Woodgate; Thomas D Schneider; Kenneth H Kraemer
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
The Journal of investigative dermatology 2008;128(8):2055-68.
2008: Rustin Ross; John J DiGiovanna; Laura Capaldi; Zsolt Argenyi; Philip Fleckman; Leslie Robinson-Bostom
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.
Journal of the American Academy of Dermatology 2008;59(1):86-90.
2008: Jennie Lugassy; John A McGrath; Peter H Itin; Revital Shemer; Julian Verbov; Helen R Murphy; Akemi Ishida-Yamamoto; John J DiGiovanna; Dani Bercovich; Nathan Karin; Alon Vitenshtein; Jouni Uitto; Reuven Bergman; Gabriele Richard; Eli Sprecher
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
The Journal of investigative dermatology 2008;128(6):1517-24.
2007: Kenneth H Kraemer; Nicholas Patronas; R Schiffmann; Brian P Brooks; D Tamura; John J DiGiovanna
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
Neuroscience 2007;145(4):1388-96.
2006: Christine Liang; Andrea Morris; Sebastian Schlücker; Kyoko Imoto; Vera H Price; Emory Menefee; Stephen Wincovitch; Ira Levin; Deborah Tamura; Katrin R Strehle; Kenneth H Kraemer; John J DiGiovanna
Structural and molecular hair abnormalities in trichothiodystrophy.
The Journal of investigative dermatology 2006;126(10):2210-6.
2006: Ross M Campbell; John J DiGiovanna
Skin cancer chemoprevention with systemic retinoids: an adjunct in the management of selected high-risk patients.
Dermatologic therapy 2006;19(5):306-14.
2006: Clifford S Perlis; Leslie Robinson-Bostom; Gladys H Telang; John J DiGiovanna
A thick lichenified plaque on the ventral penile shaft. Penile porokeratosis of Mibelli.
Archives of dermatology 2006;142(9):1221-6.
2006: Sebastian Schlücker; Christine Liang; Katrin R Strehle; John J DiGiovanna; Kenneth H Kraemer; Ira Levin
Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: a quantitative analysis by Raman microspectroscopy.
Biopolymers 2006;82(6):615-22.
2006: Colin N A Palmer; Alan D Irvine; Ana Terron-Kwiatkowski; Yiwei Zhao; Haihui Liao; Simon P Lee; David R Goudie; Aileen Sandilands; Linda E Campbell; Frances J D Smith; Gráinne M O'Regan; Rosemarie M Watson; Joanne E Cecil; Sherri J Bale; John G Compton; John J DiGiovanna; Philip Fleckman; Sue Lewis-Jones; Gehan Arseculeratne; Ann Sergeant; Colin S Munro; Brahim El Houate; Ken McElreavey; Liselotte B Halkjaer; Hans Bisgaard; Somnath Mukhopadhyay; W H Irwin McLean
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
Nature genetics 2006;38(4):441-6.
2006: Frances J D Smith; Alan D Irvine; Ana Terron-Kwiatkowski; Aileen Sandilands; Linda E Campbell; Yiwei Zhao; Haihui Liao; Alan T Evans; David R Goudie; Sue Lewis-Jones; Gehan Arseculeratne; Colin S Munro; Ann Sergeant; Gráinne M O'Regan; Sherri J Bale; John G Compton; John J DiGiovanna; Richard B Presland; Philip Fleckman; W H Irwin McLean
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Nature genetics 2006;38(3):337-42.
2006: Sikandar G Khan; Kyu-Seon Oh; Tala Shahlavi; Takahiro Ueda; David B Busch; Hiroki Inui; Steffen Emmert; Kyoko Imoto; Muniz-Medina Vanessa; Carl Baker; John J DiGiovanna; Deborah Schmidt; Arash Khadavi; Ahmet Metin; Engin Gozukara; Hanoch Slor; Alain Sarasin; Kenneth H Kraemer
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Carcinogenesis 2006;27(1):84-94.
2005: Christine Liang; Kenneth H Kraemer; Andrea Morris; Raphael Schiffmann; Vera H Price; Emory Menefee; John J DiGiovanna
Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy.
Journal of the American Academy of Dermatology 2005;52(2):224-32.
2004: Virginia E Kimonis; Sarju G Mehta; John J DiGiovanna; Sherri J Bale; Behram Pastakia
Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(6):495-502.
2004: John J DiGiovanna; Craig B Langman; Eduardo Tschen; Terry Jones; Alan Menter; Nicholas J Lowe; Lawrence F Eichenfield; Adelaide A Hebert; David M Pariser; Ronald P Savin; Stacy R Smith; Michael Jarratt; David Rodriguez; Daniel K Chalker; Steven Kempers; Mark Ling; Elyse S Rafal; Sabra Sullivan; Sewon Kang; Leena P Shah; Emily Wu; Julie Newhouse; Jonathan Pak; Douglas R Eberhardt; Graeme F Bryce; John A McLane; Michael Ondovik; Catherine Chin; Ko-Chin Khoo; Phoebe Rich
Effect of a single course of isotretinoin therapy on bone mineral density in adolescent patients with severe, recalcitrant, nodular acne.
Journal of the American Academy of Dermatology 2004;51(5):709-17.
2004: John J DiGiovanna
Ichthyosiform dermatoses: so many discoveries, so little progress.
Journal of the American Academy of Dermatology 2004;51(1 Suppl):S31-4.
2004: Peter Reilly; John J DiGiovanna
Retinoid chemoprevention in high-risk skin cancer patients.
Dermatology nursing / Dermatology Nurses' Association 2004;16(2):117-20, 123-6; quiz 127.
2003: Sara W Dill; John J DiGiovanna
Changing paradigms in dermatology: information technology.
Clinics in dermatology 2003;21(5):375-82.
2003: Leonard C Sperling; John J DiGiovanna
"Curly" wood and tiger tails: an explanation for light and dark banding with polarization in trichothiodystrophy.
Archives of dermatology 2003;139(9):1189-92.
2003: Gabriele Richard; Nkecha Brown; Fatima Rouan; Jan-Gerrit Van der Schroeff; Emilia Bijlsma; Lawrence F Eichenfield; Virginia P Sybert; Kenneth E Greer; Peter Hogan; Carmen Campanelli; John G Compton; Sherri J Bale; John J DiGiovanna; Jouni Uitto
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
The Journal of investigative dermatology 2003;120(4):601-9.
2003: John J DiGiovanna; Leslie Robinson-Bostom
Ichthyosis: etiology, diagnosis, and management.
American journal of clinical dermatology 2003;4(2):81-95.
2002: John G Compton; John J DiGiovanna; Kay A Johnston; Philip Fleckman; Sherri J Bale
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1.
Experimental dermatology 2002;11(6):518-26.
2002: Eli Sprecher; Peter Itin; Neil Whittock; John A McGrath; Rudolph Meyer; John J DiGiovanna; Sherri J Bale; Jouni Uitto; Gabriele Richard
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
The Journal of investigative dermatology 2002;119(3):692-8.
2002: Steffen Emmert; Hanoch Slor; David B Busch; Sima Batko; Roberta B Albert; Donna Coleman; Sikandar G Khan; Bassam Abu-Libdeh; John J DiGiovanna; Bari B Cunningham; Myung-Moo Lee; Jill Crollick; Hiroki Inui; Takahiro Ueda; Mohammad Hedayati; Lawrence Grossman; Tala Shahlavi; James E Cleaver; Kenneth H Kraemer
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
The Journal of investigative dermatology 2002;118(6):972-82.
2002: Gabriele Richard; Fatima Rouan; Colin Willoughby; Nkecha Brown; Pil Chung; Markku Ryynänen; Ethylin Jabs; Sherri J Bale; John J DiGiovanna; Jouni Uitto; Laura Russell
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
American journal of human genetics 2002;70(5):1341-8.
2002: Kenneth H Kraemer; John J DiGiovanna
Topical enzyme therapy for skin diseases?
Journal of the American Academy of Dermatology 2002;46(3):463-6.
2001: John J DiGiovanna
Isotretinoin effects on bone.
Journal of the American Academy of Dermatology 2001;45(5):S176-82.
2001: Eli Sprecher; Stéphane Chavanas; John J DiGiovanna; S Amin; K Nielsen; J S Prendiville; R Silverman; N B Esterly; Mary K Spraker; E Guelig; M L de Luna; M L Williams; B Buehler; Elaine Siegfried; L Van Maldergem; Ellen Pfendner; Sherri J Bale; Jouni Uitto; Alain Hovnanian; Gabriele Richard
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
The Journal of investigative dermatology 2001;117(2):179-87.
2001: P E Kerr; John J DiGiovanna
From vitamin to Vesanoid: systemic retinoids for the new millennium.
Medicine and health, Rhode Island 2001;84(7):228-31.
2001: S J Bale; John J DiGiovanna
Cancer-associated genodermatoses and familial cancer syndromes with cutaneous manifestations.
Clinics in dermatology 2001;19(3):284-9.
2001: John J DiGiovanna
Retinoid chemoprevention in patients at high risk for skin cancer.
Medical and pediatric oncology 2001;36(5):564-7.
2001: Franziska Ringpfeil; A Raus; John J DiGiovanna; B Korge; Wolfgang Harth; C Mazzanti; Jouni Uitto; Sherri J Bale; Gabriele Richard
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.
Experimental dermatology 2001;10(1):19-27.
2001: John J DiGiovanna
Systemic retinoid therapy.
Dermatologic clinics 2001;19(1):161-7.
2000: Leslie Robinson-Bostom; John J DiGiovanna
Cutaneous manifestations of end-stage renal disease.
Journal of the American Academy of Dermatology 2000;43(6):975-86;quiz 987-90.
2000: Yuriy Shevchenko; John G Compton; JR Toro; John J DiGiovanna; Sherri J Bale
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
Human genetics 2000;106(5):492-9.
2000: E Sprecher; S J Bale; John J DiGiovanna; Jouni Uitto; G Richard
Netherton syndrome is not linked to 18q12, a region homologous to the murine lanceolate hair (lah) locus.
The Journal of investigative dermatology 2000;114(4):741-2.
1998: Gabriele Richard; LE Smith; R A Bailey; P Itin; Daniel Hohl; E H Epstein; John J DiGiovanna; John G Compton; Sherri J Bale
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
Nature genetics 1998;20(4):366-9.
1998: John J DiGiovanna
Posttransplantation skin cancer: scope of the problem, management, and role for systemic retinoid chemoprevention.
Transplantation proceedings 1998;30(6):2771-5; discussion 2776-8.
1998: John J DiGiovanna
Retinoid chemoprevention in the high-risk patient.
Journal of the American Academy of Dermatology 1998;39(2 Pt 3):S82-5.
1998: J J Muglia; John J DiGiovanna
Phase 1 clinical trials.
Journal of cutaneous medicine and surgery 1998;2(4):236-41.
1998: Eleonora Candi; E Tarcsa; John J DiGiovanna; John G Compton; P M Elias; Lyuben Marekov; Peter M Steinert
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.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(5):2067-72.
1998: John J DiGiovanna; Nicholas Patronas; D Katz; D Abangan; Kenneth H Kraemer
Xeroderma pigmentosum: spinal cord astrocytoma with 9-year survival after radiation and isotretinoin therapy.
Journal of cutaneous medicine and surgery 1998;2(3):153-8.
1997: R B Sollitto; Kenneth H Kraemer; John J DiGiovanna
Normal vitamin D levels can be maintained despite rigorous photoprotection: six years' experience with xeroderma pigmentosum.
Journal of the American Academy of Dermatology 1997;37(6):942-7.
1997: Gabriele Richard; J P Lin; L Smith; Y M Whyte; P Itin; Uwe Wollina; E Epstein; Daniel Hohl; J M Giroux; L Charnas; Sherri J Bale; John J DiGiovanna
Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.
The Journal of investigative dermatology 1997;109(5):666-71.
1997: JF Korczak; Jaime Brahim; John J DiGiovanna; R G Kase; Leonard H Wexler; Alisa M Goldstein
Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction.
American journal of medical genetics 1997;69(3):309-14.
1997: Virginia E Kimonis; A M Goldstein; B Pastakia; M L Yang; R Kase; John J DiGiovanna; A E Bale; S J Bale
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
American journal of medical genetics 1997;69(3):299-308.
1997: Sherri J Bale; John J DiGiovanna
Genetic approaches to understanding the keratinopathies.
Advances in dermatology 1997;12():99-113; discussion 114.
1996: Sherri J Bale; L J Russell; M L Lee; John G Compton; John J DiGiovanna
Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases.
The Journal of investigative dermatology 1996;107(6):808-11.
1996: A Chidambaram; A M Goldstein; MR Gailani; B Gerrard; Sherri J Bale; John J DiGiovanna; Allen E Bale; M Dean
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
Cancer research 1996;56(20):4599-601.
1996: Sherri J Bale; John G Compton; L J Russell; John J DiGiovanna
Genetic heterogeneity in lamellar ichthyosis.
The Journal of investigative dermatology 1996;107(1):140-1.
1996: R B Sollitto; John J DiGiovanna
Failure of interferon alfa and isotretinoin combination therapy in the nevoid basal cell carcinoma syndrome.
Archives of dermatology 1996;132(1):94-5.
1995: John J DiGiovanna; R B Sollitto; D L Abangan; S M Steinberg; J C Reynolds
Osteoporosis is a toxic effect of long-term etretinate therapy.
Archives of dermatology 1995;131(11):1263-7.
1995: L J Russell; John J DiGiovanna; G R Rogers; Peter M Steinert; N Hashem; John G Compton; Sherri J Bale
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.
Nature genetics 1995;9(3):279-83.
1994: Maria L Turner; A N Moshell; D W Corbett; Jere B Stern; M J Roth; John J DiGiovanna; T D Horn; Kenneth H Kraemer
Clearing of melanoma in situ with intralesional interferon alfa in a patient with xeroderma pigmentosum.
Archives of dermatology 1994;130(12):1491-4.
1994: L J Russell; John J DiGiovanna; N Hashem; John G Compton; Sherri J Bale
Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.
American journal of human genetics 1994;55(6):1146-52.
1994: V Kimonis; John J DiGiovanna; J M Yang; S Z Doyle; Sherri J Bale; John G Compton
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.
The Journal of investigative dermatology 1994;103(6):764-9.
1994: John J DiGiovanna; Sherri J Bale
Clinical heterogeneity in epidermolytic hyperkeratosis.
Archives of dermatology 1994;130(8):1026-35.
1994: Alisa M Goldstein; B Pastakia; John J DiGiovanna; S Poliak; S Santucci; R Kase; Allen E Bale; Sherri J Bale
Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC).
American journal of medical genetics 1994;50(3):272-81.
1994: John J DiGiovanna; Sherri J Bale
Epidermolytic hyperkeratosis: applied molecular genetics.
The Journal of investigative dermatology 1994;102(3):390-4.
1994: C C Chipev; J M Yang; John J DiGiovanna; Peter M Steinert; Lyuben Marekov; John G Compton; Sherri J Bale
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.
American journal of human genetics 1994;54(2):179-90.
1994: J M Yang; C C Chipev; John J DiGiovanna; Sherri J Bale; Lyuben Marekov; Peter M Steinert; John G Compton
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.
The Journal of investigative dermatology 1994;102(1):17-23.
1993: Sherri J Bale; John G Compton; John J DiGiovanna
Epidermolytic hyperkeratosis.
Seminars in dermatology 1993;12(3):202-9.
1993: Alisa M Goldstein; Sherri J Bale; G L Peck; John J DiGiovanna
Sun exposure and basal cell carcinomas in the nevoid basal cell carcinoma syndrome.
Journal of the American Academy of Dermatology 1993;29(1):34-41.
1993: K H Kraemer; John J DiGiovanna; G L Peck
Isotretinoin does prevent skin cancer.
Archives of dermatology 1993;129(1):43.
1992: John J DiGiovanna
Retinoids for the future: oncology.
Journal of the American Academy of Dermatology 1992;27(6 Pt 2):S34-7.
1992: Kenneth H Kraemer; John J DiGiovanna; G L Peck
Chemoprevention of skin cancer in xeroderma pigmentosum.
The Journal of dermatology 1992;19(11):715-8.
1992: C C Chipev; B P Korge; Nelli G Markova; Sherri J Bale; John J DiGiovanna; John G Compton; Peter M Steinert
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.
Cell 1992;70(5):821-8.
1992: John G Compton; John J DiGiovanna; S K Santucci; K S Kearns; C I Amos; D L Abangan; B P Korge; O W McBride; Peter M Steinert; Sherri J Bale
Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.
Nature genetics 1992;1(4):301-5.
1992: MR Gailani; Sherri J Bale; David J Leffell; John J DiGiovanna; G L Peck; S Poliak; M A Drum; B Pastakia; O W McBride; R Kase
Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.
Cell 1992;69(1):111-7.
1992: P G O'Connell; Lynn H Gerber; John J DiGiovanna; G L Peck
Arthritis in patients with psoriasis treated with gamma-interferon.
The Journal of rheumatology 1992;19(1):80-2.
1991: E G Gross; G L Peck; John J DiGiovanna
Adverse reaction to fenretinide, a synthetic retinoid.
Archives of dermatology 1991;127(12):1849-50.
1990: G P Milton; G L Peck; J J Fu; John J DiGiovanna; J J Nordlund; J H Thomas; S F Sanders
Exacerbation of Darier's disease by lithium carbonate.
Journal of the American Academy of Dermatology 1990;23(5 Pt 1):926-8.
1990: P L Scheinman; G L Peck; David Rubinow; John J DiGiovanna; D L Abangan; P D Ravin
Acute depression from isotretinoin.
Journal of the American Academy of Dermatology 1990;22(6 Pt 1):1112-4.
1990: Kenneth H Kraemer; S Seetharam; Michael M Seidman; A Bredberg; D Brash; H L Waters; M Protić-Sabljić; G Peck; John J DiGiovanna; A Moshell
Defective DNA repair in humans: clinical and molecular studies of xeroderma pigmentosum.
Basic life sciences 1990;53():95-104.
1989: G P Milton; John J DiGiovanna; G L Peck
Treatment of nevus comedonicus with ammonium lactate lotion.
Journal of the American Academy of Dermatology 1989;20(2 Pt 2):324-8.
1989: John J DiGiovanna; L A Zech; M E Ruddel; G Gantt; G L Peck
Etretinate. Persistent serum levels after long-term therapy.
Archives of dermatology 1989;125(2):246-51.
1988: G L Peck; John J DiGiovanna; D S Sarnoff; E G Gross; D Butkus; T G Olsen; F W Yoder
Treatment and prevention of basal cell carcinoma with oral isotretinoin.
Journal of the American Academy of Dermatology 1988;19(1 Pt 2):176-85.
1988: Kenneth H Kraemer; John J DiGiovanna; A N Moshell; Robert E Tarone; G L Peck
Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin.
The New England journal of medicine 1988;318(25):1633-7.
1986: John J DiGiovanna; R K Helfgott; Lynn H Gerber; G L Peck
Extraspinal tendon and ligament calcification associated with long-term therapy with etretinate.
The New England journal of medicine 1986;315(19):1177-82.
1986: Muriel I Kaiser-Kupfer; G L Peck; Rafael C Caruso; M J Jaffe; John J DiGiovanna; E G Gross
Abnormal retinal function associated with fenretinide, a synthetic retinoid.
Archives of ophthalmology 1986;104(1):69-70.
1985: S C Poliak; John J DiGiovanna; E G Gross; G Gantt; G L Peck
Minocycline-associated tooth discoloration in young adults.
JAMA : the journal of the American Medical Association 1985;254(20):2930-2.
1984: John J DiGiovanna; E G Gross; S W McClean; M E Ruddel; G Gantt; G L Peck
Etretinate: effect of milk intake on absorption.
The Journal of investigative dermatology 1984;82(6):636-40.
1983: John J DiGiovanna; G L Peck
Oral synthetic retinoid treatment in children.
Pediatric dermatology 1983;1(1):77-88.
1982: G L Peck; E G Gross; D Butkus; John J DiGiovanna
Chemoprevention of basal cell carcinoma with isotretinoin.
Journal of the American Academy of Dermatology 1982;6(4 Pt 2 Suppl):815-23.