Search Results - "DiGiovanna, JJ"

Ichthyosis: etiology, diagnosis, and management by DiGiovanna, John J, Robinson-Bostom, Leslie

“…The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. Clinical presentation, pattern of inheritance, and laboratory…”
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Weight change and adverse event incidence with a low-dose oral contraceptive: two randomized, placebo-controlled trials by Coney, PonJola, Washenik, Ken, Langley, Richard G.B., DiGiovanna, John J., Harrison, Diane D.

“…Changes in body weight and the incidence of estrogen-related side effects with low-dose oral contraceptives (OCs) containing 20 μg ethinyl estradiol (EE) have…”
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Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development by Moslehi, R, Signore, C, Tamura, D, Mills, JL, DiGiovanna, JJ, Tucker, MA, Troendle, J, Ueda, T, Boyle, J, Khan, SG, Oh, K-S, Goldstein, AM, Kraemer, KH

“…Moslehi R, Signore C, Tamura D, Mills JL, DiGiovanna JJ, Tucker MA, Troendle J, Ueda T, Boyle J, Khan SG, Oh K‐S, Goldstein AM, Kraemer KH. Adverse effects of…”
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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris by McLean, W H Irwin, Smith, Frances J D, Irvine, Alan D, Terron-Kwiatkowski, Ana, Sandilands, Aileen, Campbell, Linda E, Zhao, Yiwei, Liao, Haihui, Evans, Alan T, Goudie, David R, Lewis-Jones, Sue, Arseculeratne, Gehan, Munro, Colin S, Sergeant, Ann, O'Regan, Gráinne, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Presland, Richard B, Fleckman, Philip

“…Ichthyosis vulgaris (OMIM 146700) is the most common inherited disorder of keratinization and one of the most frequent single-gene disorders in humans. The…”
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Etanercept as Monotherapy in Patients with Psoriasis by Leonardi, Craig L, Powers, Jerold L, Matheson, Robert T, Goffe, Bernard S, Zitnik, Ralph, Wang, Andrea, Gottlieb, Alice B

“…Tumor necrosis factor (TNF) is believed to have a role in the pathogenesis of psoriasis. In this 24-week randomized trial involving patients with…”
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Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health by Tamura, D., Khan, S.G., DiGiovanna, J.J.

“…Linked Article: Munford et al. Br J Dermatol 2017; 176:1270–1278…”
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Suppression of frequently recurring genital herpes. A placebo-controlled double-blind trial of oral acyclovir by Straus, S E, Takiff, H E, Seidlin, M, Bachrach, S, Lininger, L, DiGiovanna, J J, Western, K A, Smith, H A, Lehrman, S N, Creagh-Kirk, T

“…We studied 35 otherwise healthy adults with frequently recurring genital herpes (greater than or equal to 1 episode per month), in a double-blind trial…”
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Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome by Richard, Gabriele, Rouan, Fatima, Willoughby, Colin E., Brown, Nkecha, Chung, Pil, Ryynänen, Markku, Jabs, Ethylin Wang, Bale, Sherri J., DiGiovanna, John J., Uitto, Jouni, Russell, Laura

“…Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss…”
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Isotretinoin effects on bone by DiGiovanna, John J.

“…Isotretinoin has demonstrated efficacy in a wide range of disorders. The beneficial effects of the drug, however, are limited by its adverse effects on the…”
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Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome by Kimonis, Virginia E., Mehta, Sarju G., Digiovanna, John J., Bale, Sherri J., Pastakia, Behram

“…Purpose: Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal-dominant disorder characterized by multiple basal cell carcinomas, jaw cysts,…”
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Cutaneous manifestations of end-stage renal disease by Robinson-Bostom, Leslie, DiGiovanna, John J.

“…Examination of the skin and nails can reveal many abnormalities in patients with end-stage renal disease that precede or follow initiation of dialysis…”
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Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis by Richard, Gabriele, Bale, Sherri J, Smith, Lisa E, Bailey, Regina A, Itin, Peter, Hohl, Daniel, Epstein, Ervin H, DiGiovanna, John J, Compton, John G

“…Erythrokeratodermia variabilis (EKV, OMIM 133200) is an autosomal dominant genodermatosis with considerable intra- and interfamilial variability. It has a…”
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Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations by Richard, Gabriele, Brown, Nkecha, Rouan, Fatima, Campanelli, Carmen, Uitto, Jouni, Van der Schroeff, Jan-Gerrit, Bijlsma, Emilia, Eichenfield, Lawrence F., Sybert, Virginia P., Greer, Kenneth E., Hogan, Peter, Compton, John G., Bale, Sherri J., DiGiovanna, John J.

“…Erythrokeratodermia variabilis is an autosomal dominant genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red…”
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Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy by Liang, Christine, Kraemer, Kenneth H., Morris, Andrea, Schiffmann, Raphael, Price, Vera H., Menefee, Emory, DiGiovanna, John J.

“…Tiger tail banding under polarizing light microscopy and hair shaft abnormalities are associated with trichothiodystrophy (TTD), a rare disorder with a wide…”
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Ichthyosiform dermatoses: So many discoveries, so little progress by DiGiovanna, John J

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The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis by Sprecher, Eli, Amin, Shivan, Nielsen, Karl, Pfendner, Ellen, Uitto, Jouni, Richard, Gabriele, Chavanas, Stephane, DiGiovanna, John J., Prendiville, Julie S., Silverman, Robert, Esterly, Nancy B., Spraker, Mary K., Guelig, Ed, de Luna, Margharita Larralde, Williams, Mary L., Buehler, Bruce, Siegfried, Elaine C., Van Maldergem, Lionel, Bale, Sherri J., Hovnanian, Alain

“…The Comèl–Netherton syndrome is an autosomal recessive multisystemic disorder characterized by localized or generalized congenital ichthyosis, hair shaft…”
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Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients by EMMERT, Steffen, SLOR, Hanoch, LEE, Myung-Moo, CROLLICK, Jill, INUI, Hiroki, UEDA, Takahiro, HEDAYATI, Mohammad, GROSSMAN, Lawrence, SHAHLAVI, Tala, CLEAVER, James E, KRAEMER, Kenneth H, BUSCH, David B, BAKTO, Sima, ALBERT, Roberta B, COLEMAN, Donna, KHAN, Sikandar G, ABU-LIBDEH, Bassam, DIGIOVANNA, John J, CUNNINGHAM, Bari B

“…We studied three newly diagnosed xeroderma pigmentosum complementation group G patients with markedly different clinical features. An Israeli-Palestinian girl…”
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Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis by Russell, Laura J, DiGiovanna, John J, Rogers, Geraldine R, Steinert, Peter M, Hashem, Nemat, Compton, John G, Bale, Sherri J

“…We recently mapped the disease locus for severe autosomal recessive lamellar ichthyosis (LI) to chromosome 14q11 and showed complete linkage with TGM1, the…”
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Effect of a single course of isotretinoin therapy on bone mineral density in adolescent patients with severe, recalcitrant, nodular acne by DiGiovanna, John J., Langman, Craig B., Tschen, Eduardo H., Jones, Terry, Menter, Alan, Lowe, Nicholas J., Eichenfield, Lawrence, Hebert, Adelaide A., Pariser, David, Savin, Ronald P., Smith, Stacy R., Jarratt, Michael, Rodriguez, David, Chalker, Dan K., Kempers, Steven, Ling, Mark, Rafal, Elyse S., Sullivan, Sabra, Kang, Sewon, Shah, Leena P., Wu, Emily, Newhouse, Julie, Pak, Jonathan, Eberhardt, Douglas R., Bryce, Graeme F., McLane, John A., Ondovik, Michael, Chin, Catherine, Khoo, Ko-Chin, Rich, Phoebe

“…Adverse changes in bone have been reported for patients undergoing high-dose, long-term (several years) isotretinoin therapy for disorders of cornification…”
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Retinoid chemoprevention in the high-risk patient by DiGiovanna, John J.

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