Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Slaheddine Marrakchi"'
Autor:
Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Publikováno v:
Genes, Vol 15, Iss 3, p 288 (2024)
Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations in connexins
Externí odkaz:
https://doaj.org/article/32abf182bde7493b8bec5527b0cab407
Autor:
Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)
Abstract Background Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syn
Externí odkaz:
https://doaj.org/article/c57723e82e6245b4940077ca5311cf91
Publikováno v:
Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract Oral manifestations in syphilis are frequent through the different stages of the disease. Exclusive oral localization in secondary syphilis (SS) is yet uncommon. Delays in diagnosis are frequent in these patients. We describe a case of SS li
Externí odkaz:
https://doaj.org/article/8311343c407d43f59f89f03797a3ad90
Autor:
Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, Houda Ben Othman, Chahnez Triki, Kawthar Aloulou, Lobna Trabelsi, Nadia Mahfouth, Zeineb Ayadi-Mnif, Leila Keskes, Faiza Fakhfakh, Hamida Turki
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients. Results We report
Externí odkaz:
https://doaj.org/article/2d57499c78b04551bfa10e55a114fbc3
Autor:
Hamida Turki, Akimichi Morita, Tsen-Fang Tsai, Siew Eng Choon, Mark G Lebwohl, Slaheddine Marrakchi, A David Burden, Alexander A Navarini, Jinhua Xu, Sushmita Rajeswari, Hongjie Deng, Kay Tetzlaff, Christian Thoma, Hervé Bachelez
Publikováno v:
BMJ Open, Vol 11, Iss 3 (2021)
Introduction Generalized pustular psoriasis (GPP) is a rare, potentially life-threatening disease characterised by recurrent flares of widespread neutrophilic aseptic skin pustular eruption. Despite the availability of approved biologics for GPP in J
Externí odkaz:
https://doaj.org/article/0e3c0e8c9db14d56a3bd5916c2666e43
Autor:
Sahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, Nabil Miled, Mariem Ennouri, Judith Fischer, Mohamed Ali Kaddechi, Hamida Turki, Faiza Fakhfakh
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane‐associated protein, hypothetically involved in epidermal lipid processing and in lamellar
Externí odkaz:
https://doaj.org/article/0e7a5639f38445b0b8d339fd5a8a6493
Autor:
Franz P. W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer
Publikováno v:
PLoS Genetics, Vol 9, Iss 6 (2013)
Externí odkaz:
https://doaj.org/article/a4dfe7cb25674ce28820d9c2acb3da8b
Autor:
Franz P W Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer
Publikováno v:
PLoS Genetics, Vol 9, Iss 6, p e1003536 (2013)
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, hear
Externí odkaz:
https://doaj.org/article/eb205806975848f0bae15868d1c06749
Autor:
Lluís Puig, Siew Eng Choon, Alice B. Gottlieb, Slaheddine Marrakchi, Jörg C. Prinz, Ricardo Romiti, Yayoi Tada, Dorothea von Bredow, Melinda Gooderham
Publikováno v:
Journal of the European Academy of Dermatology and Venereology. 37:737-752
Generalized pustular psoriasis (GPP) is a rare and highly heterogenous skin disease, characterized by flares of neutrophilic pustules and erythema. As a rare disease with few clinical studies and no standardized management approaches, there is a pauc
Autor:
Akimichi Morita, Siew Eng Choon, Hervé Bachelez, Milan J. Anadkat, Slaheddine Marrakchi, Min Zheng, Tsen-Fang Tsai, Hamida Turki, Harry Hua, Sushmita Rajeswari, Christian Thoma, A. David Burden
Publikováno v:
Dermatology and Therapy. 13:347-359
Generalized pustular psoriasis (GPP) is a rare autoinflammatory skin disease characterized by flares of widespread erythema with sterile pustules, and can be relapsing with recurrent flares, or persistent with intermittent flares. Spesolimab, a human