PALISSON ETCHARREN, FRANCIS
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PALISSON ETCHARREN, FRANCIS
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PALISSON ETCHARREN, FRANCIS
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fpalisson@udd.cl
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Scopus Author ID
18037973900

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Life-Threatening Complications Following Orthognathic Surgery in a Patient With Undiagnosed Hereditary Angioedema

2013 , Julio Cifuentes , Francis Palisson , Salvador Valladares , Daniel Jerez

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Collagen VII maintains proteostasis in dermal fibroblasts by scaffolding TANGO1 cargo

2022 , Qingqing Cao , Grace Tartaglia , Michael Alexander , Pyung Hung Park , Shiv Poojan , Mehdi Farshchian , FUENTES BUSTOS, MARIA IGNACIA , Mei Chen , John A. McGrath , PALISSON ETCHARREN, FRANCIS , Julio Salas-Alanis , Andrew P. South

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Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

2007 , Ellen G. Pfendner , Anna Bruckner , CONGET MOLINA, PAULETTE ANDREA , Jemima Mellerio , PALISSON ETCHARREN, FRANCIS , Anne W. Lucky

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Overview of the Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

2007-08-01 , Lucky, Anne W. , PALISSON ETCHARREN, FRANCIS

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IMMUNE CELL PROFILING OF WOUNDS FROM EPIDERMOLYSIS BULLOSA PATIENTS

2020 , YUBERO GONCALVEZ, MARIA JOAO , FUENTES BUSTOS, MARIA IGNACIA , PALISSON ETCHARREN, FRANCIS , REBOLLEDO JARAMILLO, BORIS EDUARDO , Guttmann-Gruber, Christina , Tockner, Birgit , Anja Diem , Klausegger, Alfred , Cofre-Araneda, Glenda , Figuera, Olga , Hidalgo, Yessia , Morande, Pilar , Cho, Raymond J. , Rishel, Heather I , Marinkovich, M. Peter , Teng, Joyce , Webster, Timothy G. , Prisco, Marco , Eraso, Luis H. , Hofbauer, Josefina Pinon , South, Andrew P.

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Publication

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

2012 , Fernando A. Rodríguez , María José Gana , YUBERO GONCALVEZ, MARIA JOAO , Gisela Zillmann , Susanne M. Krämer , Javiera Catalán , Julia Rubio-Astudillo , Sergio González , Lu Liu , Linda Ozoemena , Jemima M. Mellerio , John A. McGrath , PALISSON ETCHARREN, FRANCIS , CONGET MOLINA, PAULETTE ANDREA

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Lamotrigine-induced toxic epidermal necrolysis treated with intravenous immunoglobulin and amniotic membranes

2008-06-01 , Schwartz, Rodrigo , Avello, Esteban , PALISSON ETCHARREN, FRANCIS

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De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome

2012 , Javiera A. Catalán , Fernando A. Rodríguez , María J. Yubero , Francis Palisson , María J. Gana , Susanne M. Krämer , REPETTO LISBOA, MARIA GABRIELA

AbstractBackground  Down syndrome (DS) is the most common autosomal chromosomal disorder. Epidermolysis bullosa (EB) is a rare genodermatosis characterized by skin and mucous membrane fragility, with formation of blisters and erosions after minor trauma. Dystrophic EB (DEB) is inherited as an autosomal dominant (DDEB) or recessive (RDEB) trait. Both forms are caused by mutations in COL7A1, the gene coding for the type VII collagen. We report a patient affected by both conditions: DS and DDEB.Methods  A patient with DS developed generalized blisters at the age of three months. Cytogenetic study was performed to confirm DS. Skin biopsies were examined with immunohistochemical and electron microscopy techniques to determine EB subtype. Genomic DNA was extracted from peripheral blood samples. COL7A1 mutations were screened by heteroduplex analysis using conformation‐sensitive gel electrophoresis and sequencing.Results  Karyotype analysis revealed trisomy 21. Histological study agreed with a DEB diagnosis. Mutational analysis showed a heterozygous c.6127G>T mutation in COL7A1, which is compatible with DDEB. Parental study suggests that c.6127G>T arises as a de novo mutation.Conclusions  This report demonstrates that EB can be associated with other common conditions and reports the case of a patient who suffered two de novo independent genetic conditions. It also contributes to expanding the knowledge and database of clinical and molecular aspects of DDEB.

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Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa

2010 , CONGET MOLINA, PAULETTE ANDREA , Fernando Rodriguez , Susanne Kramer , Carolina Allers , Valeska Simon , PALISSON ETCHARREN, FRANCIS , Sergio Gonzalez , Maria J. Yubero

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Corrigendum to “Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa” [J. Dermatol. Sci. 65 (2012) 149–152]

2012 , Rodrígueza, Fernando A. , Gana, María José , Yubero, María Joao , Close Zillmann, Gisela , Kramer, Susanne M. , Catalána, Javiera , Rubio-Astudillo, Julia , González, Sergio , Liu, Lu , Ozoemena, Linda , Mellerio, Jemima E. , McGrath, John A. , PALISSON ETCHARREN, FRANCIS , CONGET MOLINA, PAULETTE ANDREA

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