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Items: 1 to 50 of 217

1.

Successful treatment of Pachyonychia congenita with Rosuvastatin.

Frommherz L, Has C.

J Eur Acad Dermatol Venereol. 2020 Apr 1. doi: 10.1111/jdv.16393. [Epub ahead of print]

PMID:
32236980
2.

Disorders Caused by Genetic Mosaicism.

Moog U, Felbor U, Has C, Zirn B.

Dtsch Arztebl Int. 2020 Feb 21;116(8):119-125. doi: 10.3238/arztebl.2020.0119.

3.

Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa.

Mittwollen R, Wohlfart S, Park J, Grosch E, Has C, Hohenester E, Schneider H, Hammersen J.

J Eur Acad Dermatol Venereol. 2020 Mar 3. doi: 10.1111/jdv.16332. [Epub ahead of print]

PMID:
32124492
4.

Vesicle formation mechanisms: an overview.

Has C, Pan S.

J Liposome Res. 2020 Mar 3:1-22. doi: 10.1080/08982104.2020.1730401. [Epub ahead of print]

PMID:
32066297
5.

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.

Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, Fine JD, Heagerty A, Hovnanian A, Marinkovich MP, Martinez AE, McGrath JA, Moss C, Murrell DF, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley DT, Zambruno G, Mellerio JE.

Br J Dermatol. 2020 Feb 4. doi: 10.1111/bjd.18921. [Epub ahead of print] Review.

PMID:
32017015
6.

An unusual type of telangiectatic naevus with underlying and surrounding dilated veins: report of four cases.

Happle R, van Gysel D, Fölster-Holst R, Jordaan HF, Claasens S, Has C.

J Eur Acad Dermatol Venereol. 2020 Apr;34(4):e169-e171. doi: 10.1111/jdv.16116. Epub 2019 Dec 18. No abstract available.

PMID:
31777114
7.

Flightless I, a contributing factor to skin blistering in Kindler syndrome patients?

Kopecki Z, Has C, Yang G, Bruckner-Tuderman L, Cowin A.

J Cutan Pathol. 2020 Feb;47(2):186-189. doi: 10.1111/cup.13597. Epub 2019 Nov 6. No abstract available.

PMID:
31614010
8.

A comprehensive review on recent preparation techniques of liposomes.

Has C, Sunthar P.

J Liposome Res. 2019 Sep 27:1-30. doi: 10.1080/08982104.2019.1668010. [Epub ahead of print]

PMID:
31558079
9.

Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.

Higgins R, Jensen AN, Wachstein J, Bruckner-Tuderman L, Spiegel R, Traber H, Achermann J, Schaller M, Fehrenbacher B, Röcken M, Ignatova D, Chang YT, Fischer T, Schwieger-Briel AE, French LE, Hoetzenecker W, Hornung R, Malzacher A, Cozzio A, Navarini A, Has C, Guenova E.

Acta Derm Venereol. 2020 Jan 30;100(1):adv00041. doi: 10.2340/00015555-3313. No abstract available.

10.

Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study.

Reimer A, Hess M, Schwieger-Briel A, Kiritsi D, Schauer F, Schumann H, Bruckner-Tuderman L, Has C.

Br J Dermatol. 2019 Sep 5. doi: 10.1111/bjd.18475. [Epub ahead of print]

PMID:
31487386
11.

Combined anti-inflammatory and low-dose antiproliferative therapy for squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.

Reimer A, Lu S, He Y, Bruckner-Tuderman L, Technau-Hafsi K, Meiss F, Has C, von Bubnoff D.

J Eur Acad Dermatol Venereol. 2020 Jan;34(1):e1-e3. doi: 10.1111/jdv.15835. Epub 2019 Sep 2. No abstract available.

PMID:
31374134
12.

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.

Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H, Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S, Fischer J.

Hum Mutat. 2019 Dec;40(12):2318-2333. doi: 10.1002/humu.23883. Epub 2019 Sep 6.

PMID:
31347739
13.

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

Guerrero-Aspizua S, Conti CJ, Escamez MJ, Castiglia D, Zambruno G, Youssefian L, Vahidnezhad H, Requena L, Itin P, Tadini G, Yordanova I, Martin L, Uitto J, Has C, Del Rio M.

Orphanet J Rare Dis. 2019 Jul 24;14(1):183. doi: 10.1186/s13023-019-1158-6.

14.

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".

Vahidnezhad H, Youssefian L, Daneshpazhooh M, Mahmoudi H, Kariminejad A, Fischer J, Christiansen J, Schneider H, Guy A, Liu L, McGrath JA, Has C, Uitto J.

Matrix Biol. 2019 Oct;83:48-59. doi: 10.1016/j.matbio.2019.07.002. Epub 2019 Jul 11.

PMID:
31302245
15.

Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self-improving epidermolytic ichthyosis.

Frommherz L, Küsel J, Zimmer A, Fischer J, Has C.

Br J Dermatol. 2020 Mar;182(3):780-785. doi: 10.1111/bjd.18325. Epub 2019 Sep 26.

PMID:
31278741
16.

Chronic tissue damage: a common pathomechanism of genodermatoses.

Has C.

Br J Dermatol. 2019 Sep;181(3):440-441. doi: 10.1111/bjd.18104. Epub 2019 Jul 1. No abstract available.

PMID:
31259385
17.

[Role of the dermatologist in recognizing syndromes].

Giehl K, Hamm H, Has C.

Hautarzt. 2019 Jul;70(7):472-473. doi: 10.1007/s00105-019-4442-4. German. No abstract available.

PMID:
31243517
18.

Ein neues Forum für seltene Hauterkrankungen.

Emmert S, Iben S, Fischer J, Komlosi K, Betz RC, Frank J J, Has C.

J Dtsch Dermatol Ges. 2019 Jun;17(6):672-673. doi: 10.1111/ddg.13863. No abstract available.

PMID:
31241841
19.

[Syndromes with skin fragility].

Reimer A, Has C.

Hautarzt. 2019 Jul;70(7):481-489. doi: 10.1007/s00105-019-4433-5. Review. German.

PMID:
31197392
20.

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations.

Maccari ME, Speckmann C, Heeg M, Reimer A, Casetti F, Has C, Ehl S, Castro CN.

Clin Immunol. 2019 Nov;208:108228. doi: 10.1016/j.clim.2019.06.004. Epub 2019 Jun 10.

PMID:
31195081
21.

Isolation and Culture of Epidermolysis Bullosa Cells and Organotypic Skin Models.

He Y, Has C.

Methods Mol Biol. 2019;1993:181-190. doi: 10.1007/978-1-4939-9473-1_14.

PMID:
31148087
22.

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.

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

Br J Dermatol. 2020 Mar;182(3):574-592. doi: 10.1111/bjd.18128. Epub 2019 Aug 9. No abstract available.

23.

A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation.

Hörer S, Marrakchi S, Radner FPW, Zolles G, Heinz L, Eichmann TO, Has C, Salavei P, Mahfoudh N, Turki H, Zimmer AD, Fischer J.

J Invest Dermatol. 2019 Oct;139(10):2154-2163.e5. doi: 10.1016/j.jid.2019.04.015. Epub 2019 May 11.

PMID:
31082376
24.

Postzygotic HRAS mutation in heterochromia of straight scalp hair.

Has C, Happle R, Fischer J, Grüninger G, Technau-Hafsi K.

Br J Dermatol. 2019 Nov;181(5):1074-1076. doi: 10.1111/bjd.18045. Epub 2019 Jul 11. No abstract available.

PMID:
31021405
25.

Editorial: Skin Blistering Diseases.

Has C, Amber KT, Murrell DF, Musette P, Ludwig RJ.

Front Med (Lausanne). 2019 Apr 2;6:60. doi: 10.3389/fmed.2019.00060. eCollection 2019. No abstract available.

26.

[Neonate female with blister formation shortly after birth : Preparation for the specialist examination: part 34].

Tantcheva-Poór I, Has C.

Hautarzt. 2019 Apr;70(Suppl 1):31-33. doi: 10.1007/s00105-018-4309-0. German. No abstract available.

PMID:
30976879
27.

Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma.

Atanasova VS, Pourreyron C, Farshchian M, Lawler M, Brown CA 4th, Watt SA, Wright S, Warkala M, Guttmann-Gruber C, Hofbauer JP, Fuentes I, Prisco M, Rashidghamat E, Has C, Salas-Alanis JC, Palisson F, Hovnanian A, McGrath JA, Mellerio JE, Bauer JW, South AP.

Clin Cancer Res. 2019 Jun 1;25(11):3384-3391. doi: 10.1158/1078-0432.CCR-18-2661. Epub 2019 Mar 7.

PMID:
30846478
28.

Kindler syndrome: a rare case report from Greece.

Gkaitatzi M, Kalloniati E, Has C, Kiritsi D, Spiliopoulos T, Georgiou S.

Oxf Med Case Reports. 2019 Feb 25;2019(2):omz003. doi: 10.1093/omcr/omz003. eCollection 2019 Feb.

29.

Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations.

Has C, Küsel J, Happle R, Steinke H, Technau-Hafsi K, Fischer J.

Br J Dermatol. 2019 Sep;181(3):623-624. doi: 10.1111/bjd.17838. Epub 2019 May 12. No abstract available.

PMID:
30816995
30.

Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.

Condrat I, He Y, Cosgarea R, Has C.

Front Med (Lausanne). 2019 Jan 29;5:363. doi: 10.3389/fmed.2018.00363. eCollection 2018.

31.

A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.

Hoffmann J, Casetti F, Reimer A, Leppert J, Grüninger G, Has C.

Acta Derm Venereol. 2019 Apr 1;99(4):460-461. doi: 10.2340/00015555-3133. No abstract available.

32.

Biologika-Therapie mit Anti-IL-17A-Antikörper verbessert kongenitale ichthyosiforme Verhornungsstörung.

Haiges D, Fischer J, Hörer S, Has C, Schempp CM.

J Dtsch Dermatol Ges. 2019 Jan;17(1):70-72. doi: 10.1111/ddg.13716_g. No abstract available.

PMID:
30615287
33.

Biologic therapy targeting IL-17 ameliorates a case of congenital ichthyosiform cornification disorder.

Haiges D, Fischer J, Hörer S, Has C, Schempp CM.

J Dtsch Dermatol Ges. 2019 Jan;17(1):70-72. doi: 10.1111/ddg.13716. Epub 2018 Dec 3. No abstract available.

PMID:
30506809
34.

Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis.

Lalor L, Titeux M, Palisson F, Fuentes I, Yubero MJ, Tasanen K, Huilaja L, Has C, Tadini G, Haggstrom AN, Hovnanian A, Lucky AW.

Pediatr Dermatol. 2019 Jan;36(1):132-138. doi: 10.1111/pde.13722. Epub 2018 Dec 4.

PMID:
30515866
35.

Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes.

He Y, Thriene K, Boerries M, Hausser I, Franzke CW, Busch H, Dengjel J, Has C.

Matrix Biol. 2018 Dec;74:62-76. doi: 10.1016/j.matbio.2018.07.001. Epub 2018 Jul 3.

PMID:
30466509
36.

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.

Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Shadmehri AA, Giunta C, Kraenzlin M, Syx D, Malfait F, Has C, Lwin SM, Karamzadeh R, Liu L, Guy A, Hamid M, Kariminejad A, Zeinali S, McGrath JA, Uitto J.

Matrix Biol. 2019 Aug;81:91-106. doi: 10.1016/j.matbio.2018.11.006. Epub 2018 Nov 18.

PMID:
30463024
37.

Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.

Ralser DJ, Takeuchi H, Fritz G, Basmanav FB, Effern M, Sivalingam S, El-Shabrawi-Caelen L, Degirmentepe EN, Kocatürk E, Singh M, Booken N, Spierings NMK, Schnabel V, Heineke A, Knuever J, Wolf S, Wehner M, Tronnier M, Leverkus M, Tantcheva-Poór I, Wenzel J, Oji V, Has C, Hölzel M, Frank J, Haltiwanger RS, Betz RC.

J Invest Dermatol. 2019 Apr;139(4):960-964. doi: 10.1016/j.jid.2018.10.030. Epub 2018 Nov 9. No abstract available.

38.

Alitretinoin in punctate palmoplantar keratoderma.

Yilmaz P, Medvecz M, Kohlhase J, Küsel J, Fischer J, Has C.

Br J Dermatol. 2019 Apr;180(4):931-932. doi: 10.1111/bjd.17336. Epub 2018 Dec 19. No abstract available.

PMID:
30339730
39.

Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring.

Kroeger J, Hoppe E, Galiger C, Has C, Franzke CW.

Matrix Biol. 2019 Jul;80:72-84. doi: 10.1016/j.matbio.2018.10.003. Epub 2018 Oct 12.

PMID:
30316981
40.

Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.

El Hachem M, Barresi S, Diociaiuti A, Boldrini R, Condorelli AG, Capoluongo E, Proto V, Scuvera G, Has C, Tartaglia M, Castiglia D.

Acta Derm Venereol. 2019 Feb 1;99(2):238-239. doi: 10.2340/00015555-3046. No abstract available.

41.

Multiple facets of desmoglein 1 mutations.

Has C.

Br J Dermatol. 2018 Sep;179(3):568-569. doi: 10.1111/bjd.16937. No abstract available.

PMID:
30222890
42.

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.

Cho RJ, Alexandrov LB, den Breems NY, Atanasova VS, Farshchian M, Purdom E, Nguyen TN, Coarfa C, Rajapakshe K, Prisco M, Sahu J, Tassone P, Greenawalt EJ, Collisson EA, Wu W, Yao H, Su X, Guttmann-Gruber C, Hofbauer JP, Hashmi R, Fuentes I, Benz SC, Golovato J, Ehli EA, Davis CM, Davies GE, Covington KR, Murrell DF, Salas-Alanis JC, Palisson F, Bruckner AL, Robinson W, Has C, Bruckner-Tuderman L, Titeux M, Jonkman MF, Rashidghamat E, Lwin SM, Mellerio JE, McGrath JA, Bauer JW, Hovnanian A, Tsai KY, South AP.

Sci Transl Med. 2018 Aug 22;10(455). pii: eaas9668. doi: 10.1126/scitranslmed.aas9668.

PMID:
30135250
43.

CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient.

Benati D, Miselli F, Cocchiarella F, Patrizi C, Carretero M, Baldassarri S, Ammendola V, Has C, Colloca S, Del Rio M, Larcher F, Recchia A.

Mol Ther. 2018 Nov 7;26(11):2592-2603. doi: 10.1016/j.ymthe.2018.07.024. Epub 2018 Aug 4.

44.

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.

45.

Peeling Skin Disorders: A Paradigm for Skin Desquamation.

Has C.

J Invest Dermatol. 2018 Aug;138(8):1689-1691. doi: 10.1016/j.jid.2018.05.020.

46.

Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa.

Reimer A, Laszig R, Pfeiffer J, Eberwein P, Mittelviefhaus H, Bruckner-Tuderman L, Has C.

Acta Derm Venereol. 2018 Jul 11;98(7):711-712. doi: 10.2340/00015555-2934. No abstract available.

47.

Identification of key lipids critical for platelet activation by comprehensive analysis of the platelet lipidome.

Peng B, Geue S, Coman C, Münzer P, Kopczynski D, Has C, Hoffmann N, Manke MC, Lang F, Sickmann A, Gawaz M, Borst O, Ahrends R.

Blood. 2018 Aug 2;132(5):e1-e12. doi: 10.1182/blood-2017-12-822890. Epub 2018 May 21.

48.

Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome.

Trah J, Has C, Hausser I, Kutzner H, Reinshagen K, Königs I.

Dermatol Ther (Heidelb). 2018 Jun;8(2):313-321. doi: 10.1007/s13555-018-0237-2. Epub 2018 May 18.

49.

Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes.

Has C, Fischer J.

Exp Dermatol. 2019 Oct;28(10):1146-1152. doi: 10.1111/exd.13668. Epub 2018 Jun 28. Review.

PMID:
29679399
50.

Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: coincidence or association?

Roda Â, Travassos AR, Soares-de-Almeida L, Has C.

Dermatol Online J. 2018 Mar 15;24(3). pii: 13030/qt4k08r7x4.

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