Zobrazeno 1 - 10
of 24
pro vyhledávání: '"María del Carmen, Boente"'
Autor:
Kristin Technau-Hafsi, Peter H. Hoeger, Maria Jose Fiandrino, Cristina Has, David Rafei-Shamsabadi, Judith Fischer, Mina Saleva-Stateva, Mihai-Alexandru Badea, Maria Balabanova, Melanie Boerries, Andreas Zimmer, María del Carmen Boente, Maria Elena Hess, Martin Theiler, Lisa Weibel
Publikováno v:
Journal of the American Academy of Dermatology. 85(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5164281d9dab7e28bb5485e995c73e8
https://pubmed.ncbi.nlm.nih.gov/33279647
https://pubmed.ncbi.nlm.nih.gov/33279647
Autor:
Antonio Torrelo, María del Carmen Boente, Paloma Triana, Antonio Jesús Muñoz-Serrano, Lara Rodriguez-Laguna, Miriam Miguel-Ferrero, Víctor Martínez-González, Juan Carlos López-Gutiérrez, Carlos Delgado-Miguel
Publikováno v:
Journal of Vascular Anomalies. 2:e010
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ccc3d9b717739e2ef430f7af9cbda34b
https://doi.org/10.1097/jova.0000000000000010
https://doi.org/10.1097/jova.0000000000000010
Autor:
María del Carmen Boente, Judith Fischer, Sabine Jägle, Emmanuelle Bourrat, Julia Kopp, Henning Hamm, Peter Kirchmeier, Geoffroy Hickman, Andreas Zimmer, Hazem A. Juratli, Rudolf Happle, Kira Süssmuth
Publikováno v:
Acta Dermato-Venereologica, Vol 101, Iss 2, p adv00397 (2021)
Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d94ab5a687c985900304bb2931d31c20
https://doi.org/10.2340/00015555-3753
https://doi.org/10.2340/00015555-3753
Autor:
Marc Abramowicz, Felicity Collins, Philippe Clapuyt, Christine Léauté-Labrèze, Brid O'Donnell, Julie Désir, Eulalia Baselga, María Antonia González-Enseñat, Antonella Mendola, Nicola Brunetti-Pierri, Yim Dwight, Nicole Revencu, Victoria R. Barrio, David J.E. Lord, Lesley C. Adès, David J. Amor, Mariarosaria Cozzolino, Orli Wargon, Shelagh Joss, Frank Hammer, Susan J. Bayliss, Josée Dubois, Didier Bessis, María del Carmen Boente, Leona Fishman, Wendy K. Chung, Miikka Vikkula, Oon T. Tan, Yolanda Gilaberte, Laurence M. Boon, Cheryl Cytrynbaum, Juliette Mazereeuw-Hautier, Carol A. Gardiner, Patricia E. Burrows, Sarah A. Sandaradura, Fred Ghali, Maria R. Cordisco, Alan D. Irvine, Asunción Vicente, Catheline Vilain, John B. Mulliken, Aicha Salhi, Francine Blei, Loreto Martorell, Anne Dompmartin, Janine Smith, Ashley Wilson, S. Syed, Sarah L. Chamlin, Ana Martín-Santiago, Marie Ange Delrue, Reed E. Pyeritz
Publikováno v:
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14c5b61af53f0bf9a3fc6aa8afac2f2e
https://doi.org/10.1002/humu.22431
https://doi.org/10.1002/humu.22431
Publikováno v:
Archivos argentinos de pediatria. 115(2)
Both, generalized eruptive histiocytosis and juvenile xanthogranuloma are dendritic histiocytic disorders (also known as non-Langerhans cells histiocytosis) that share clinicopathological and immunohistiochemical characteristics. We present a 3-year-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::012ba3921bab44a50f7f73612c6019eb
https://pubmed.ncbi.nlm.nih.gov/28318197
https://pubmed.ncbi.nlm.nih.gov/28318197
Publikováno v:
Pediatric Dermatology. 28:670-673
Two unrelated girls presented with multiple disseminated, paired, small café-au-lait spots and hypopigmented macules, suggesting didymosis (twin spotting). The girls also had growth retardation, microcephaly, hypertelorism, triangular facies, and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85dbc97115c1129e6e680204c77626d4
https://doi.org/10.1111/j.1525-1470.2011.01470.x
https://doi.org/10.1111/j.1525-1470.2011.01470.x
Autor:
C. Hogan, Patricia J.C. Dopping-Hepenstal, Lu Liu, Andrew P. South, Charles A. Mein, Jemima E. Mellerio, Arti Nanda, Rita M. Cabral, John A. McGrath, Raul A. Asial, Beatriz C. Winik, Richard Dobson, Patricia A. Baselaga, David P. Kelsell, María del Carmen Boente
Publikováno v:
Journal of Investigative Dermatology. 130:1543-1550
Desmosomes are intercellular adhesive junctions and attachment sites for the intermediate filament (IF) cytoskeleton, prominent in tissues subject to high levels of mechanical stress such as the epidermis and heart. The obligate desmosomal constituen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::209a03f6e54b1c9996de41e625fb741f
https://doi.org/10.1038/jid.2010.7
https://doi.org/10.1038/jid.2010.7
Autor:
Silke Redler, María del Carmen Boente, Rudolf Happle, Arne König, Christian Weirich, Regina C. Betz, Ángel Vera-Casaño, Karl-Heinz Grzeschik, Javier Romero-Gomez, Ulrike Neidel, Aicha Salhi, Frank Oeffner, Dorothea Bornholdt, Gayle Fischer
Publikováno v:
The American Journal of Human Genetics. 84:459-467
Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome) is a rare X-linked, oculocutaneous human disorder. Here, we assign the IFAP locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.11-p22.13 and provide evidence that missen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cae3802d3cb541a7357977fefc037abc
https://doi.org/10.1016/j.ajhg.2009.03.014
https://doi.org/10.1016/j.ajhg.2009.03.014
Publikováno v:
British Journal of Dermatology. 160:868-874
We describe two boys with curly hair, palmoplantar keratoderma and skin fragility who presented clinical and histological features similar, but not identical, to those exhibited by patients with ectodermal dysplasia-skin fragility syndrome (McGrath s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d532db1137bd783a924e1b215fff10
https://doi.org/10.1111/j.1365-2133.2008.08946.x
https://doi.org/10.1111/j.1365-2133.2008.08946.x
Autor:
Kaatje Heinelt, Juliane Strien, Annalisa Patrizi, María del Carmen Boente, Karl-Heinz Grzeschik, Yasemin Alanay, Nicolas Chassaing, Ben C.J. Hamel, Ingo Lohrisch, Marie Eleanore O. Nicolas, G. Eda Utine, Ian O. Ellis, Carlo Marcelis, Jeffrey A. Ascherman, Katrina Prescott, Bart Loeys, Arne König, Mauro Paradisi, Christina Raissa I. Francisco, Wolfgang Kastrup, Frank Oeffner, Patricia Silvia Della Giovanna, Paul J. Benke, Dorothea Bornholdt, Maria Piccione, Yasmin Mehraein, Cristina Has, Andreas R. Janecke, Ineke van der Burgt, Bettina Prager, Dana Pagliarini, Hildegunde Piza-Katzer, Marc S. Zeller, Rudolf Happle
Publikováno v:
Human Mutation. 30:E618-E628
The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69af5188a16267d619bc01fe9cc81272
https://doi.org/10.1002/humu.20992
https://doi.org/10.1002/humu.20992