Mutations in LRP4 lead to high bone density by impaired sclerostin action
Piters, E, Leupin, O, Boudin, E, de Freitas, F, Bueno-Lozano, M, Fuentes, F.J. Ramos, Itin, P.H, Kneissel, M, Van Hul, W
Published in Bone (New York, N.Y.) (01.06.2010)
Published in Bone (New York, N.Y.) (01.06.2010)
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Journal Article
292 Patients with MAUIE syndrome are carriers of heterozygous IWC-associated KRT10 variants
Burger, B., Ghosh, A., Ng, C.K., Piscuoglio, S., Spoerri, I., von Arb, S., Itin, P.H., Greer, K., Elbaum, D.
Published in Journal of investigative dermatology (01.09.2019)
Published in Journal of investigative dermatology (01.09.2019)
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Journal Article
Discovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti
Burger, B., Ghosh, A., Ng, C.K.Y., Piscuoglio, S., Spoerri, I., Itin, P.H., Greer, K., Elbaum, D.
Published in British journal of dermatology (1951) (01.11.2020)
Published in British journal of dermatology (1951) (01.11.2020)
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Journal Article
Immune‐regulatory genes as possible modifiers of familial pityriasis rubra pilaris – lessons from a family with PRP and psoriasis
Spoerri, I., Herms, S., Eytan, O., Sarig, O., Heinimann, K., Sprecher, E., Itin, P.H., Burger, B.
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2018)
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2018)
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Journal Article
Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease
Imahorn, E., Yüksel, Z., Spoerri, I., Gürel, G., Imhof, C., Saraçoğlu, Z.N., Koku Aksu, A.E., Rady, P.L., Tyring, S.K., Kempf, W., Itin, P.H., Burger, B.
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2017)
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2017)
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Journal Article
Novel TMC 8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease
Imahorn, E., Yüksel, Z., Spoerri, I., Gürel, G., Imhof, C., Saraçoğlu, Z.N., Koku Aksu, A.E., Rady, P.L., Tyring, S.K., Kempf, W., Itin, P.H., Burger, B.
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2017)
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2017)
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Journal Article
Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation: Two novel deletions in KRT10 in a patient with IWC
Burger, B., Spoerri, I., Schubert, M., Has, C., Itin, P.H.
Published in British journal of dermatology (1951) (01.02.2012)
Published in British journal of dermatology (1951) (01.02.2012)
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Journal Article
Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria
Arnold, A.W., Itin, P.H., Pigors, M., Kohlhase, J., Bruckner-Tuderman, L., Has, C.
Published in British journal of dermatology (1951) (01.10.2010)
Published in British journal of dermatology (1951) (01.10.2010)
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Journal Article
Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris
Eytan, O., Qiaoli, L., Nousbeck, J., van Steensel, M.A.M., Burger, B., Hohl, D., Taïeb, A., Prey, S., Bachmann, D., Avitan-Hersh, E., Jin Chung, H., Shemer, A., Trau, H., Bergman, R., Fuchs-Telem, D., Warshauer, E., Israeli, S., Itin, P.H., Sarig, O., Uitto, J., Sprecher, E.
Published in British journal of dermatology (1951) (01.05.2014)
Published in British journal of dermatology (1951) (01.05.2014)
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Journal Article
Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria: Mutation of C16orf57 in poikiloderma with neutropenia
Arnold, A.W., Itin, P.H., Pigors, M., Kohlhase, J., Bruckner-Tuderman, L., Has, C.
Published in British journal of dermatology (1951) (01.10.2010)
Published in British journal of dermatology (1951) (01.10.2010)
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Journal Article
Acromelanosis Albo-Punctata: A Distinct Inherited Dermatosis with Acral Spotty Dyspigmentation without Systemic Involvement
Arnold, A.W., Kern, J.S., Itin, P.H., Pigors, M., Happle, R., Has, C.
Published in Dermatology (Basel) (01.01.2012)
Published in Dermatology (Basel) (01.01.2012)
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Journal Article
Cutaneous Plasmablastic Lymphoma in an HIV-Positive Male: An Unrecognized Cutaneous Manifestation
Häusermann, P., Khanna, N., Buess, M., Itin, P.H., Battegay, M., Dirnhofer, S., Buechner, S.A.
Published in Dermatology (Basel) (01.01.2004)
Published in Dermatology (Basel) (01.01.2004)
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Journal Article
Conference Proceeding
Genodermatosis with Reticulate, Patchy and Mottled Pigmentation of the Neck – A Clue to Rare Dermatologic Disorders
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Journal Article
Conference Proceeding