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Items: 1 to 50 of 262

1.

Identification of a Novel Non-desmoglein Autoantigen in Pemphigus Vulgaris.

Di Lullo G, Calabresi V, Mariotti F, Zambruno G, Lanzavecchia A, Di Zenzo G.

Front Immunol. 2019 Jun 19;10:1391. doi: 10.3389/fimmu.2019.01391. eCollection 2019.

2.

Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis.

Has C, Liu L, Bolling M, Charlesworth AV, El Hachem M, Escámez MJ, Fuentes I, Büchel S, Hiremagalore R, Pohla-Gubo G, van den Akker P, Wertheim-Tysarowska K, Zambruno G.

Br J Dermatol. 2019 May 15. doi: 10.1111/bjd.18128. [Epub ahead of print]

PMID:
31090061
3.

Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.

Guerra L, Magliozzi M, Baban A, Di Mambro C, Di Zenzo G, Novelli A, El Hachem M, Zambruno G, Castiglia D.

Acta Derm Venereol. 2019 Jul 1;99(9):831-832. doi: 10.2340/00015555-3216. No abstract available.

4.

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene.

Diociaiuti A, Angioni A, Pisaneschi E, Margollicci M, Boldrini R, Alesi V, Novelli A, Zambruno G, El Hachem M.

Acta Derm Venereol. 2019 Jul 1;99(9):828-830. doi: 10.2340/00015555-3162. No abstract available.

5.

miR-145-5p regulates fibrotic features of recessive dystrophic epidermolysis bullosa skin fibroblasts.

Condorelli AG, Logli E, Cianfarani F, Teson M, Diociaiuti A, El Hachem M, Zambruno G, Castiglia D, Odorisio T.

Br J Dermatol. 2019 Feb 28. doi: 10.1111/bjd.17840. [Epub ahead of print]

PMID:
30816994
6.

Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses.

El Hachem M, Abeni D, Diociaiuti A, Rotunno R, Gesualdo F, Zambruno G, Bodermer C.

Ital J Pediatr. 2019 Feb 19;45(1):26. doi: 10.1186/s13052-019-0618-x.

7.

Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa.

Cianfarani F, De Domenico E, Nyström A, Mastroeni S, Abeni D, Baldini E, Ulisse S, Uva P, Bruckner-Tuderman L, Zambruno G, Castiglia D, Odorisio T.

Matrix Biol. 2019 Aug;81:3-16. doi: 10.1016/j.matbio.2018.12.001. Epub 2018 Dec 5.

PMID:
30528862
8.

Teledermatology diagnosis of the first Italian patient affected with restrictive dermopathy due to ZMPSTE24 homozygous mutation.

Diociaiuti A, D'Amico P, Pisaneschi E, Giancristoforo S, Pappalardo MG, Di Guardo V, Zambruno G, El Hachem M.

J Eur Acad Dermatol Venereol. 2019 Mar;33(3):e139-e140. doi: 10.1111/jdv.15351. Epub 2018 Dec 7. No abstract available.

PMID:
30461078
9.

Large International Validation of ABSIS and PDAI Pemphigus Severity Scores.

Hébert V, Boulard C, Houivet E, Duvert Lehembre S, Borradori L, Della Torre R, Feliciani C, Fania L, Zambruno G, Camaioni DB, Didona B, Marinovic B, Schmidt E, Schumacher N, Hünefeld C, Schanz S, Kern JS, Hofmann S, Bouyeure AC, Picard-Dahan C, Prost-Squarcioni C, Caux F, Alexandre M, Ingen-Housz-Oro S, Bagot M, Tancrede-Bohin E, Bouaziz JD, Franck N, Vabres P, Labeille B, Richard MA, Delaporte E, Dupuy A, D'Incan M, Quereux G, Skowro F, Paul C, Livideanu CB, Beylot-Barry M, Doutre MS, Avenel-Audran M, Bedane C, Bernard P, Machet L, Maillard H, Jullien D, Debarbieux S, Sassolas B, Misery L, Abasq C, Dereure O, Lagoutte P, Ferranti V, Werth VP, Murrell DF, Hertl M, Benichou J, Joly P; French Study Group on Autoimmune Bullous Skin Diseases; Autoimmune Bullous Skin Disease Task Force of the European Academy of Dermatology and Venereology.

J Invest Dermatol. 2019 Jan;139(1):31-37. doi: 10.1016/j.jid.2018.04.042. Epub 2018 Oct 6. Review.

PMID:
30301637
10.

Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy.

Schwieger-Briel A, Fuentes I, Castiglia D, Barbato A, Greutmann M, Leppert J, Duchatelet S, Hovnanian A, Burattini S, Yubero MJ, Ibañez-Arenas R, Rebolledo-Jaramillo B, Gräni C, Ott H, Theiler M, Weibel L, Paller AS, Zambruno G, Fischer J, Palisson F, Has C.

J Invest Dermatol. 2019 Jan;139(1):244-249. doi: 10.1016/j.jid.2018.07.022. Epub 2018 Aug 16. No abstract available.

PMID:
30120936
11.

Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence.

Cordisco S, Tinaburri L, Teson M, Orioli D, Cardin R, Degan P, Stefanini M, Zambruno G, Guerra L, Dellambra E.

J Invest Dermatol. 2019 Jan;139(1):38-50. doi: 10.1016/j.jid.2018.06.181. Epub 2018 Sep 25.

PMID:
30009828
12.

X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.

Diociaiuti A, Angioni A, Pisaneschi E, Alesi V, Zambruno G, Novelli A, El Hachem M.

Exp Dermatol. 2018 Apr 19. doi: 10.1111/exd.13667. [Epub ahead of print]

PMID:
29672931
13.

Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features.

Guerra L, Castori M, Didona B, Castiglia D, Zambruno G.

J Eur Acad Dermatol Venereol. 2018 May;32(5):704-719. doi: 10.1111/jdv.14902. Epub 2018 Mar 24. Review.

PMID:
29489036
14.

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas - Diagnostic algorithm and principles of therapy.

Guerra L, Castori M, Didona B, Castiglia D, Zambruno G.

J Eur Acad Dermatol Venereol. 2018 Jun;32(6):899-925. doi: 10.1111/jdv.14834. Epub 2018 Mar 25. Review.

PMID:
29397027
15.

Local anesthesia in pediatric dermatologic surgery: Evaluation of a patient-centered approach.

El Hachem M, Carnevale C, Diociaiuti A, Ranieri C, Giancristoforo S, Zambruno G, Ciofi Degli Atti ML.

Pediatr Dermatol. 2018 Jan;35(1):112-116. doi: 10.1111/pde.13347. Epub 2017 Dec 15.

PMID:
29243298
16.

Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review.

Diociaiuti A, Castiglia D, Naim M, Condorelli AG, Zambruno G, El Hachem M.

J Eur Acad Dermatol Venereol. 2018 Apr;32(4):e149-e151. doi: 10.1111/jdv.14639. Epub 2017 Oct 29. No abstract available.

PMID:
29024068
17.

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.

Diociaiuti A, Pisaneschi E, Zambruno G, Angioni A, Novelli A, Boldrini R, El Hachem M.

J Eur Acad Dermatol Venereol. 2018 Mar;32(3):e110-e112. doi: 10.1111/jdv.14618. Epub 2017 Oct 27. No abstract available.

PMID:
28983987
18.

Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin.

Carnevale C, Castiglia D, Diociaiuti A, Proto V, Giancristoforo S, Boldrini R, Zambruno G, El Hachem M.

Acta Derm Venereol. 2017 Nov 15;97(10):1249-1251. doi: 10.2340/00015555-2752. No abstract available.

19.

Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the β3 short arm.

Condorelli AG, Fortugno P, Cianfarani F, Proto V, Di Zenzo G, Didona B, Zambruno G, Castiglia D.

Br J Dermatol. 2018 Jun;178(6):1416-1422. doi: 10.1111/bjd.15690. Epub 2018 Feb 22.

PMID:
28561256
20.

Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa.

Cianfarani F, Zambruno G, Castiglia D, Odorisio T.

Am J Pathol. 2017 Jul;187(7):1445-1453. doi: 10.1016/j.ajpath.2017.03.003. Epub 2017 Apr 29. Review.

PMID:
28460207
21.

Stromal microenvironment in type VII collagen-deficient skin: The ground for squamous cell carcinoma development.

Guerra L, Odorisio T, Zambruno G, Castiglia D.

Matrix Biol. 2017 Nov;63:1-10. doi: 10.1016/j.matbio.2017.01.002. Epub 2017 Jan 24. Review.

PMID:
28126522
22.

IgA tracheobronchial deposits underlie respiratory compromise in neonatal linear IgA bullous dermatosis.

Diociaiuti A, Zambruno G, Diomedi Camassei F, Di Zenzo G, Capolupo I, Stoppa F, Forziati V, El Hachem M.

J Eur Acad Dermatol Venereol. 2017 Jul;31(7):e333-e335. doi: 10.1111/jdv.14120. Epub 2017 Feb 1. No abstract available.

PMID:
28079922
23.

Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.

He Y, Maier K, Leppert J, Hausser I, Schwieger-Briel A, Weibel L, Theiler M, Kiritsi D, Busch H, Boerries M, Hannula-Jouppi K, Heikkilä H, Tasanen K, Castiglia D, Zambruno G, Has C.

Am J Hum Genet. 2016 Dec 1;99(6):1395-1404. doi: 10.1016/j.ajhg.2016.11.005. Epub 2016 Nov 23.

24.

Severe osteoarticular involvement in isotretinoin-triggered acne fulminans: two cases successfully treated with anakinra.

Oranges T, Insalaco A, Diociaiuti A, Carnevale C, Strippoli R, Zambruno G, Tomà P, El Hachem M.

J Eur Acad Dermatol Venereol. 2017 Jun;31(6):e277-e279. doi: 10.1111/jdv.14022. Epub 2016 Nov 14. No abstract available.

PMID:
27785852
25.

Childhood epidermolysis bullosa acquisita during squaric acid dibutyl ester immunotherapy for alopecia areata.

Guerra L, Pacifico V, Calabresi V, De Luca N, Castiglia D, Angelo C, Zambruno G, Di Zenzo G.

Br J Dermatol. 2017 Feb;176(2):491-494. doi: 10.1111/bjd.14764. Epub 2016 Dec 8.

PMID:
27208509
26.

Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response.

El Hachem M, Fortugno P, Palmeri A, Citterich MH, Diociaiuti A, Proto V, Boldrini R, Zambruno G, Castiglia D.

Acta Derm Venereol. 2016 Nov 2;96(7):954-958. doi: 10.2340/00015555-2439.

27.

A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.

Numata S, Teye K, Krol RP, Okamatsu Y, Hashikawa K, Matsuda M, Fortugno P, Di Zenzo G, Castiglia D, Zambruno G, Hamada T, Hashimoto T.

Exp Dermatol. 2016 Jul;25(7):568-70. doi: 10.1111/exd.13011. Epub 2016 May 20. No abstract available.

PMID:
26997095
28.

Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn.

Diociaiuti A, Castiglia D, Giancristoforo S, Guerra L, Proto V, Dotta A, Boldrini R, Zambruno G, El Hachem M.

Acta Derm Venereol. 2016 Aug 23;96(6):784-7. doi: 10.2340/00015555-2364.

29.

Calculation of cut-off values based on the Autoimmune Bullous Skin Disorder Intensity Score (ABSIS) and Pemphigus Disease Area Index (PDAI) pemphigus scoring systems for defining moderate, significant and extensive types of pemphigus.

Boulard C, Duvert Lehembre S, Picard-Dahan C, Kern JS, Zambruno G, Feliciani C, Marinovic B, Vabres P, Borradori L, Prost-Squarcioni C, Labeille B, Richard MA, Ingen-Housz-Oro S, Houivet E, Werth VP, Murrell DF, Hertl M, Benichou J, Joly P; International Pemphigus Study Group.

Br J Dermatol. 2016 Jul;175(1):142-9. doi: 10.1111/bjd.14405. Epub 2016 Apr 3.

PMID:
26800395
30.

Pemphigoid Gestationis Complicating an Egg Donation Pregnancy.

Guerra L, Mazzanti C, Calabresi V, De Luca N, Zambruno G, Di Zenzo G.

Acta Derm Venereol. 2016 Jun 15;96(5):695-6. doi: 10.2340/00015555-2303. No abstract available.

31.

Ichthyosis with confetti: clinics, molecular genetics and management.

Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G.

Orphanet J Rare Dis. 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. Review.

32.

The E3 ligase Itch knockout mice show hyperproliferation and wound healing alteration.

Giamboi-Miraglia A, Cianfarani F, Cattani C, Lena AM, Serra V, Campione E, Terrinoni A, Zambruno G, Odorisio T, Di Daniele N, Melino G, Candi E.

FEBS J. 2015 Dec;282(23):4435-49. doi: 10.1111/febs.13514. Epub 2015 Oct 12.

33.

Paraneoplastic Epidermolysis Bullosa Acquisita Associated with Thyroid Carcinoma.

Lombardo GA, Pilla MA, Benucci R, Monopoli A, Baliva G, Gobello T, Di Zenzo G, Zambruno G, Guerra L.

Acta Derm Venereol. 2016 Mar;96(3):414-5. doi: 10.2340/00015555-2219. No abstract available.

34.

Interleukin-22 Promotes Wound Repair in Diabetes by Improving Keratinocyte Pro-Healing Functions.

Avitabile S, Odorisio T, Madonna S, Eyerich S, Guerra L, Eyerich K, Zambruno G, Cavani A, Cianfarani F.

J Invest Dermatol. 2015 Nov;135(11):2862-2870. doi: 10.1038/jid.2015.278. Epub 2015 Jul 13.

35.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC.

Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25.

36.

Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review.

Guerra L, Fortugno P, Sinistro A, Proto V, Zambruno G, Didona B, Castiglia D.

J Dermatol. 2015 Aug;42(8):786-94. doi: 10.1111/1346-8138.12913. Epub 2015 Apr 28. Review.

PMID:
25917539
37.

Management of bullous pemphigoid: the European Dermatology Forum consensus in collaboration with the European Academy of Dermatology and Venereology.

Feliciani C, Joly P, Jonkman MF, Zambruno G, Zillikens D, Ioannides D, Kowalewski C, Jedlickova H, Kárpáti S, Marinovic B, Mimouni D, Uzun S, Yayli S, Hertl M, Borradori L.

Br J Dermatol. 2015 Apr;172(4):867-77. doi: 10.1111/bjd.13717.

PMID:
25827742
38.

Acral skin atrophy in an infant: an early clue to Kindler syndrome diagnosis.

Diociaiuti A, Zambruno G, Giancristoforo S, Proto V, Boldrini R, Castiglia D, El Hachem M.

J Eur Acad Dermatol Venereol. 2016 Jun;30(6):1046-9. doi: 10.1111/jdv.13101. Epub 2015 Mar 12. No abstract available.

PMID:
25764106
39.

Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.

Guerra L, Fortugno P, Pedicelli C, Mazzanti C, Proto V, Zambruno G, Castiglia D.

Acta Derm Venereol. 2015 Jul;95(6):720-4. doi: 10.2340/00015555-2075.

40.

A case of neonatal linear IgA bullous dermatosis with severe eye involvement.

Romani L, Diociaiuti A, D'Argenio P, El Hachem M, Gargiullo L, Boldrini R, De Pità O, Petroni S, Zambruno G.

Acta Derm Venereol. 2015 Nov;95(8):1015-7. doi: 10.2340/00015555-2074. No abstract available.

41.

Clonal analysis of B-cell response in pemphigus course: toward more effective therapies.

Di Zenzo G, Zambruno G.

J Invest Dermatol. 2015 Mar;135(3):651-654. doi: 10.1038/jid.2014.499.

42.

Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes.

Lanzafame M, Botta E, Teson M, Fortugno P, Zambruno G, Stefanini M, Orioli D.

Exp Dermatol. 2015 Apr;24(4):314-6. doi: 10.1111/exd.12657.

PMID:
25651864
43.

Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.

Boccaletti V, Zambruno G, Castiglia D, Magnani C, Tognetti E, Fabrizi G, Cortelazzi C, Pagliarello C, Di Nuzzo S.

Pediatr Dermatol. 2015 Mar-Apr;32(2):e42-7. doi: 10.1111/pde.12513. Epub 2015 Jan 30. Review.

PMID:
25639640
44.

TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.

Arseni L, Lanzafame M, Compe E, Fortugno P, Afonso-Barroso A, Peverali FA, Lehmann AR, Zambruno G, Egly JM, Stefanini M, Orioli D.

Proc Natl Acad Sci U S A. 2015 Feb 3;112(5):1499-504. doi: 10.1073/pnas.1416181112. Epub 2015 Jan 20.

45.

Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree.

El Hachem M, Diociaiuti A, Proto V, Fortugno P, Zambruno G, Castiglia D, Naim M.

Eur J Dermatol. 2015 Jan-Feb;25(1):14-9. doi: 10.1684/ejd.2014.2457.

PMID:
25515598
46.

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.

Kiritsi D, Valari M, Fortugno P, Hausser I, Lykopoulou L, Zambruno G, Fischer J, Bruckner-Tuderman L, Jakob T, Has C.

J Allergy Clin Immunol. 2015 Jan;135(1):280-3. doi: 10.1016/j.jaci.2014.09.042. Epub 2014 Nov 11. No abstract available.

PMID:
25458912
47.

Definitions and outcome measures for mucous membrane pemphigoid: recommendations of an international panel of experts.

Murrell DF, Marinovic B, Caux F, Prost C, Ahmed R, Wozniak K, Amagai M, Bauer J, Beissert S, Borradori L, Culton D, Fairley JA, Fivenson D, Jonkman MF, Marinkovich MP, Woodley D, Zone J, Aoki V, Bernard P, Bruckner-Tuderman L, Cianchini G, Venning V, Diaz L, Eming R, Grando SA, Hall RP, Hashimoto T, Herrero-González JE, Hertl M, Joly P, Karpati S, Kim J, Chan Kim S, Korman NJ, Kowalewski C, Lee SE, Rubenstein DR, Sprecher E, Yancey K, Zambruno G, Zillikens D, Doan S, Daniel BS, Werth VP.

J Am Acad Dermatol. 2015 Jan;72(1):168-74. doi: 10.1016/j.jaad.2014.08.024. Epub 2014 Nov 4. Review.

48.

Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV).

Hertl M, Jedlickova H, Karpati S, Marinovic B, Uzun S, Yayli S, Mimouni D, Borradori L, Feliciani C, Ioannides D, Joly P, Kowalewski C, Zambruno G, Zillikens D, Jonkman MF.

J Eur Acad Dermatol Venereol. 2015 Mar;29(3):405-14. doi: 10.1111/jdv.12772. Epub 2014 Oct 22.

PMID:
25338479
49.

FERMT1 promoter mutations in patients with Kindler syndrome.

Has C, Chmel N, Levati L, Neri I, Sonnenwald T, Pigors M, Godbole K, Dudhbhate A, Bruckner-Tuderman L, Zambruno G, Castiglia D.

Clin Genet. 2015 Sep;88(3):248-54. doi: 10.1111/cge.12490. Epub 2014 Oct 7.

PMID:
25156791
50.

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa.

El Hachem M, Zambruno G, Bourdon-Lanoy E, Ciasulli A, Buisson C, Hadj-Rabia S, Diociaiuti A, Gouveia CF, Hernández-Martín A, de Lucas Laguna R, Dolenc-Voljč M, Tadini G, Salvatori G, De Ranieri C, Leclerc-Mercier S, Bodemer C.

Orphanet J Rare Dis. 2014 May 20;9:76. doi: 10.1186/1750-1172-9-76. Review.

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