Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura
Ralser, D.J., Lestringant, G.G., Du‐Thanh, A., Kokordelis, P., Fischer, J., Basmanav, F.B.Ünalan, Wolf, S., Thiele, H., Altmüller, J., Nürnberg, P., Oji, V., Fritz, G., Frank, J., Betz, R.C.
Published in British journal of dermatology (1951) (01.12.2017)
Published in British journal of dermatology (1951) (01.12.2017)
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Journal Article
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions
Pigors, Manuela, Sarig, Ofer, Heinz, Lisa, Plagnol, Vincent, Fischer, Judith, Mohamad, Janan, Malchin, Natalia, Rajpopat, Shefali, Kharfi, Monia, Lestringant, Giles G., Sprecher, Eli, Kelsell, David P., Blaydon, Diana C.
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population
Mohamad, Janan, Samuelov, Liat, Malchin, Natalia, Rabinowitz, Tom, Assaf, Sari, Malki, Liron, Malovitski, Kiril, Israeli, Shirli, Grafi‐Cohen, Meital, Bitterman‐Deutsch, Ora, Molho‐Pessach, Vered, Cohen‐Barak, Eran, Bach, Gideon, Garty, Ben Zion, Bergman, Reuven, Harel, Avikam, Nanda, Arti, Lestringant, Giles G., McGrath, John, Shalev, Stavit, Shomron, Noam, Mashiah, Jacob, Eskin‐Schwartz, Marina, Sprecher, Eli, Sarig, Ofer
Published in Experimental dermatology (01.09.2021)
Published in Experimental dermatology (01.09.2021)
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Journal Article
Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B
Mohamad, J., Samuelov, L., Malki, L., Peled, A., Pavlovsky, M., Malovitski, K., Taiber, S., Adir, N., Rabinowitz, T., Shomron, N., Milner, J. D., Lestringant, G., Sarig, O., Sprecher, E.
Published in Clinical and experimental dermatology (01.01.2021)
Published in Clinical and experimental dermatology (01.01.2021)
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Journal Article
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates
ECKL, Katja Martina, STEVENS, Howard P, REIS, André, HENNIES, Hans Christian, LESTRINGANT, Gilles G, WESTENBERGER-TREUMANN, Margaretha, TRAUPE, Heiko, HINZ, Britta, FROSSARD, Philippe M, STADLER, Rudolf, LEIGH, Irene M, NÜRNBERG, Peter
Published in Human genetics (2003)
Published in Human genetics (2003)
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Journal Article
Cutaneous reactions to henna and associated additives
Lestringant, G G, Bener, A, Frossard, P M
Published in British journal of dermatology (1951) (01.09.1999)
Published in British journal of dermatology (1951) (01.09.1999)
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Journal Article
Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions
Indelman, M., Bergman, R., Lestringant, G.G., Peer, G., Sprecher, E.
Published in British journal of dermatology (1951) (01.03.2003)
Published in British journal of dermatology (1951) (01.03.2003)
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Journal Article
Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity
Krebsová, Alice, Küster, Wolfgang, Lestringant, Gilles G., Schulze, Bernt, Hinz, Britta, Frossard, Philippe M., Reis, André, Hennies, Hans Christian
Published in American journal of human genetics (01.07.2001)
Published in American journal of human genetics (01.07.2001)
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Journal Article
Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Alef, Thomas, Torres, Serena, Hausser, Ingrid, Metze, Dieter, Türsen, Ümit, Lestringant, Gilles G., Hennies, Hans Christian
Published in Journal of investigative dermatology (01.04.2009)
Published in Journal of investigative dermatology (01.04.2009)
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Journal Article
Atrichia with Papular Lesions Resulting from a Nonsense Mutation Within the Human Hairless Gene
Sprecher, Eli, Lestringant, Gilles G., Szargel, Raymonde, Bergman, Reuven, Labay, Valentina, Frossard, Philippe M., Friedman-Birnbaum, Rachel, Cohen, Nadine
Published in Journal of investigative dermatology (01.10.1999)
Published in Journal of investigative dermatology (01.10.1999)
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Journal Article
Conference Proceeding
Human renin gene BglI dimorphism associated with hypertension in two independent populations
Frossard, Philippe M, Lestringant, Gilles G, Malloy, Mary J, Kane, John P
Published in Clinical genetics (01.12.1999)
Published in Clinical genetics (01.12.1999)
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Journal Article
MR and other imaging methods in the investigation of mycetomas
Czechowski, J, Nork, M, Haas, D, Lestringant, G, Ekelund, L
Published in Acta radiologica (1987) (01.01.2001)
Published in Acta radiologica (1987) (01.01.2001)
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Journal Article
Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families
Nakano, Aoi, Lestringant, Gilles G., Paperna, Tamar, Bergman, Reuven, Gershoni, Ruth, Frossard, Philippe, Kanaan, Moien, Meneguzzi, Guerrino, Richard, Gabriele, Pfendner, Ellen, Uitto, Jouni, Pulkkinen, Leena, Sprecher, Eli
Published in Journal of the American Academy of Dermatology (01.04.2002)
Published in Journal of the American Academy of Dermatology (01.04.2002)
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Journal Article
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura
Buket Basmanav, F., Fritz, Günter, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmüller, Janine, Pulimood, Susanne A., Rütten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette, Betz, Regina C.
Published in Journal of investigative dermatology (01.02.2015)
Published in Journal of investigative dermatology (01.02.2015)
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Journal Article
X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene
Knight, S.W., Heiss, N.S., Vulliamy, T.J., Greschner, S., Stavrides, G., Pai, G.S., Lestringant, G., Varma, N., Mason, P.J., Dokal, I., Poustka, A.
Published in American journal of human genetics (01.07.1999)
Published in American journal of human genetics (01.07.1999)
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Journal Article
Characterization of IgE-binding allergens in Samsum ant venom
Reunala, T., Brummer-Korvenkontio, H., Saarinen, K., Räsänen, L., Lestringant, G., Hoffman, D.R.
Published in Journal of allergy and clinical immunology (01.02.2005)
Published in Journal of allergy and clinical immunology (01.02.2005)
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Journal Article
Association of an Apolipoprotein B Gene Marker With Essential Hypertension
Frossard, Philippe M, Obineche, Enyioma N, Lestringant, Gilles G
Published in Hypertension (Dallas, Tex. 1979) (01.04.1999)
Published in Hypertension (Dallas, Tex. 1979) (01.04.1999)
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Journal Article
Conference Proceeding
Congenital insensitivity to pain with anhidrosis
Sztriha, László, Lestringant, Gilles G, Hertecant, Jozef, Frossard, Philippe M, Masouyé, Isabelle
Published in Pediatric neurology (01.07.2001)
Published in Pediatric neurology (01.07.2001)
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Journal Article