Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Aicha Salhi"'
1
Akademický článek
Severe Perinatal Presentations of Günther’s Disease: Series of 20 Cases and Perspectives
Autor: Claire Goudet, Cécile Ged, Audrey Petit, Chloe Desage, Perrine Mahe, Aicha Salhi, Ines Harzallah, Jean-Marc Blouin, Patrick Mercie, Caroline Schmitt, Antoine Poli, Laurent Gouya, Vincent Barlogis, Emmanuel Richard
Publikováno v: Life, Vol 14, Iss 1, p 130 (2024)
(1) Background: Congenital erythropoietic porphyria (CEP), named Günther’s disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges
Externí odkaz: https://doaj.org/article/4c90326ad20846f182b5990fcbec2016
Zobrazit plný text záznamu
2
PSMB10, the last immunoproteasome gene missing for PRAAS
Autor: Mariëlle VanGijn, Florence Apparailly, Déborah Mechin, Lakhdar Boudhane, Vincent Bondet, Darragh Duffy, Yanick J. Crow, Tu-Anh Tran, Aicha Salhi, Christophe Broca, Benjamin P. Kant, Renaud Cezar, Cécile Rittore, Isabelle Touitou, Eric Richard, Guilaine Boursier, Gillian I. Rice, Sylvie Grandemange, Guillaume Sarrabay
Publikováno v: Sarrabay, G, Méchin, D, Salhi, A, Boursier, G, Rittore, C, Crow, Y, Rice, G I, Tran, T A, Cezar, R, Duffy, D, Bondet, V, Boudhane, L, Broca, C, Kant, B P, Van Gijn, M E, Grandemange, S, Richard, E, Apparailly, F & Touitou, I 2019, ' PSMB10, the last immunoproteasome gene missing for PRAAS ', Journal of Allergy and Clinical Immunology . https://doi.org/10.1016/j.jaci.2019.11.024
We describe a patient exhibiting clinical features of PRAAS due to a homozygous mutation in PSMB10. This gene encodes the only immunoproteasome subunit in which mutations have not yet been associated with PRAAS.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f7ddf21c798b10599e3ad48b11102b5
https://hal-pasteur.archives-ouvertes.fr/pasteur-02396614
Zobrazit plný text záznamu
3
Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion
Autor: Marzak Metref, Arnaud de la Fouchardière, Fatma Boukendakdji, Marie Karanian, Aicha Salhi, Djazia Dahlouk, Aline Baltres, Fateh Allaoua, Salim Ysmail‐Dahlouk, Assya Djeridane, Véronique Haddad, Sylvie Fraitag, Daniel Pissaloux, Franck Tirode, Aurélie Houlier
Publikováno v: Pigment Cell & melanoma research
Pigment Cell & melanoma research, Blackwell Munksgaard, 2019, 32 (5), pp.708-713. ⟨10.1111/pcmr.12785⟩
Pigment Cell & melanoma research, 2019, 32 (5), pp.708-713. ⟨10.1111/pcmr.12785⟩
International audience; A girl, born with a posterior lumbosacral giant congenital nevus, developed a central nodule that expanded over a period of 14 months into a 10-cm pedunculated mass. Histological analysis of the mass revealed melanoma of myxoi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9664ecac88f6f4516e9d778dffe3f54
https://www.hal.inserm.fr/inserm-02440645
Zobrazit plný text záznamu
4
Prognosis and response to laser treatment of early-onset hypertrophic port-wine stains (PWS)
Autor: Thierry Passeron, Virginie Fayard, Gabriela Georgescou, G. Toubel, Laurence M. Boon, Jean-Philippe Hardy, Celine Lavogiez, Aude Maza, Jean-Michel Mazer, Nathalie Gral, Anne-Marie Collet-Villette, Aicha Salhi, Cristina Bulai Livideanu, Jean-Philippe Lacour, Juliette Mazereeuw-Hautier, C. Labreze, Chrystèle Galliot
Publikováno v: Journal of the American Academy of Dermatology. 75:64-68
Background There is limited information regarding early development of soft-tissue and/or bone hypertrophy with facial port-wine stains (PWS). Objective We sought to characterize patients with hypertrophic PWS presenting during childhood. Methods Pat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcaf9a1e3b691ecf31114c1c23c87018
https://doi.org/10.1016/j.jaad.2016.02.1167
Zobrazit plný text záznamu
6
ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype
Autor: Smail Hadj-Rabia, Marc Vasse, Christine Bodemer, Bert Callewaert, Sofie Symoens, Philippe Khau Van Kien, Aicha Salhi, Helen Cox, Aude Beyens, Najoua Kahloul, Elif Yilmaz Gulec, Ester Moreno-Artero, Gonul Ogur, Annie Harroche, Alper Gezdirici
Publikováno v: Experimental dermatologyREFERENCES. 28(10)
Gezdirici, Alper/0000-0002-2432-9279; Gezdirici, Alper/0000-0002-2432-9279; vasse, marc/0000-0002-8784-7209; Beyens, Aude/0000-0003-0231-6861 WOS: 000493185700008 PubMed: 29952037 In ATP6V0A2-related cutis laxa, the skin phenotype varies from a wrink
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c8deb4d323dd92d57796d8d2e0ba120
https://pubmed.ncbi.nlm.nih.gov/29952037
Zobrazit plný text záznamu
7
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
Autor: Asunción Vicente, Christine Léauté-Labrèze, Hannah M Bombei, Eleonore Pairet, Laurence M. Boon, Carle Paul, David G. Brooks, Ilona J. Frieden, Anne M. Turner, Reed E. Pyeritz, Miikka Vikkula, Raphaël Helaers, David J. Amor, Juliette Dupont, Malin Kvarnung, Marcia C. Willing, Mustapha Amyere, Josée Dubois, Annouk Bisdorff, Shoji Watanabe, Denise W. Metry, Philippe Parent, Loreto Martorell, A. Phan, Ashley Wilson, Orli Wargon, John B. Mulliken, Aicha Salhi, Anne Dompmartin, Catherine McCuaig, Francine Blei, Pierre Vabres, Louanne Hudgins, Eulalia Baselga, María Antonia González-Enseñat, Marion Gérard, Isabelle Quéré, Andrea Hanson-Kahn, Maria R. Cordisco, Nicole Revencu, Wendy K. Chung, Jean-Philippe Lacour, Juliette Mazereeuw-Hautier, Lisa Weibel, Florence Petit
Publikováno v: Circulation
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Circulation, American Heart Association, 2017, 136 (11), pp.1037-1048. ⟨10.1161/CIRCULATIONAHA.116.026886⟩
CIRCULATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Publons
Background: Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and capillary malformation (CM)-AVM. Previou
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1251887ddfadee32b56bad98e2b76c1
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12677
Zobrazit plný text záznamu
8
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency
Autor: Nobuyuki Hyakuna, Saleh Al Muhsen, Takaki Asano, Caner Aytekin, Didier Bronnimann, Yuval Itan, Erika Della Mina, Figen Dogu, Chittibabu Vatte, Laurent Abel, Amein Al Ali, Caini Liu, Vivien Béziat, Xiaoxia Li, Julie Toubiana, Marie Ferneiny, Romain Lévy, Masao Kobayashi, Anne Puel, Ekrem Unal, Suzan A AlKhater, Cyril Cyrus, Louis Yi Ann Chai, Fatih Celmeli, Fabian Hauck, Satoshi Okada, Stéphanie Boisson-Dupuis, Osamu Ohara, Turkan Patiroglu, Jacinta Bustamante, Mélanie Migaud, Kunihiko Moriya, Matías Oleastro, Jean-Laurent Casanova, Aydan Ikinciogullari, Florian Gothe, Natalia Tahuil, Yildiz Camcioglu, Christoph Klein, Aicha Salhi, Ling Yun, Serdar Nepesov
Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, vol 113, iss 51
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of the skin, nails, and/or mucosae with commensal Candida species. The first genetic etiology of isolated CMC-autosomal recessive (AR) IL-17 receptor A (IL-17RA)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a973cea89126f67b1d3cc6dfc1c40ac5
https://doi.org/10.1073/pnas.1618300114
Zobrazit plný text záznamu
10
RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
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
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
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje