المؤلفون: Esperón-Moldes, Uxia, Ginarte-Val, Manuel, Rodríguez-Pazos, Laura, Fachal, Laura, Martín-Santiago, Ana, Vicente, Asunción, Jiménez-Gallo, David, Guillén-Navarro, Encarna, Sampol, Loreto Martorell, González-Enseñat, María Antonia, Vega, Ana

مصطلحات موضوعية: Alleles, Amino Acid Substitution, Child, Preschool, Cytochrome P-450 Enzyme System, Female, Founder Effect, Genes, Recessive, Haplotypes, Humans, Ichthyosis, Lamellar, Male, Middle Aged, Models, Molecular, Mutation, Pedigree, Phenotype, Protein Conformation, Spain, Structure-Activity Relationship

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10668/15120; PMC7028276; https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0229025&type=printable; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028276/pdf

الاتاحة: http://hdl.handle.net/10668/15120
https://doi.org/10.1371/journal.pone.0229025
https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0229025&type=printable
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028276/pdf

المؤلفون: Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E, Amor, David J, Bisdorff, Annouk, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David, Dupont, Juliette, González-Enseñat, Maria Antonia, Frieden, Ilona, Gérard, Marion, Kvarnung, Malin, Hanson-Kahn, Andrea Kwan, Hudgins, Louanne, Léauté-Labrèze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Weibel, Lisa, Vikkula, Miikka

المصدر: Amyere, Mustapha; Revencu, Nicole; Helaers, Raphaël; Pairet, Eleonore; Baselga, Eulalia; Cordisco, Maria; Chung, Wendy; Dubois, Josée; Lacour, Jean-Philippe; Martorell, Loreto; Mazereeuw-Hautier, Juliette; Pyeritz, Reed E; Amor, David J; Bisdorff, Annouk; Blei, Francine; Bombei, Hannah; Dompmartin, Anne; Brooks, David; Dupont, Juliette; González-Enseñat, Maria Antonia; Frieden, Ilona; Gérard, Marion; Kvarnung, Malin; Hanson-Kahn, Andrea Kwan; Hudgins, Louanne; Léauté-Labrèze, Christine; McCuaig, Catherine; Metry, Denise; Parent, Philippe; Paul, Carle; Weibel, Lisa; et al; Vikkula, Miikka (2017). Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation, 136(11):1037-1048.

مصطلحات موضوعية: Dermatology Clinic, Clinic for Surgery, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/144457/1/Circulation_2017.pdf; https://www.zora.uzh.ch/id/eprint/144457/8/ZORA144457.pdf; info:pmid/28687708; urn:issn:0009-7322

الاتاحة: https://www.zora.uzh.ch/id/eprint/144457/
https://www.zora.uzh.ch/id/eprint/144457/1/Circulation_2017.pdf
https://www.zora.uzh.ch/id/eprint/144457/8/ZORA144457.pdf
https://doi.org/10.1161/CIRCULATIONAHA.116.026886

المؤلفون: Lacruz, Goretti, González-Enseñat, Maria Antònia, Suñol, Mariona, Vicente, Asunción

المصدر: Dermatology Online Journal, vol 18, iss 10

وصف الملف: text/html

Relation: qt954351cq; https://escholarship.org/uc/item/954351cq

الاتاحة: https://escholarship.org/uc/item/954351cq

المؤلفون: Leal, Lorena, Vicente, María Asunción, Mascaró, Josep Maria, Bombí, Josep Antoni, González-Enseñat, María Antonia

المصدر: Archives of Pediatrics & Adolescent Medicine ; volume 164, issue 9 ; ISSN 1072-4710

الاتاحة: http://dx.doi.org/10.1001/archpediatrics.2010.150-a
https://archpedi.jamanetwork.com/ama/content_public/journal/peds/5212/ppm05006_875_875.pdf

المؤلفون: Sánchez Fernández, Iván, Julià Manresa, Marc, González Ensenat, Maria Antonia, Vicente Villa, Maria Asunción

المصدر: Archives of Pediatrics & Adolescent Medicine ; volume 162, issue 5, page 485 ; ISSN 1072-4710

الاتاحة: http://dx.doi.org/10.1001/archpedi.162.5.485
https://archpedi.jamanetwork.com/ama/content_public/journal/peds/9206/ppm70006_485_485.pdf

المؤلفون: Martinez-De Pablo, Maria Isabel, González-Enseñat, Maria Antonia, Vicente, Asunción, Gilaberte, Montserrat, Mascaró, José Manuel

المصدر: Archives of Dermatology ; volume 143, issue 2 ; ISSN 0003-987X

الاتاحة: http://dx.doi.org/10.1001/archderm.143.2.215
http://jamanetwork.com/journals/jamadermatology/fullarticle/411069

المؤلفون: Richarz, Nina A., Fustà‐Novell, Xavier, Fatsini‐Blanch, Vanessa, Fortuny, Claudia, González‐Enseñat, María Antonia, Vicente, Asunción

المصدر: International Journal of Dermatology ; volume 57, issue 9, page 1118-1119 ; ISSN 0011-9059 1365-4632

الاتاحة: http://dx.doi.org/10.1111/ijd.13995
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fijd.13995
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijd.13995

المؤلفون: Alcalá, Rebeca, González-Enseñat, María Antonia, Vicente, Asunción

المصدر: Piel ; volume 33, issue 1, page 21-32 ; ISSN 0213-9251

الاتاحة: http://dx.doi.org/10.1016/j.piel.2017.02.005
https://api.elsevier.com/content/article/PII:S0213925117300606?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0213925117300606?httpAccept=text/plain

المؤلفون: Álvarez‐Salafranca, Marcial, Vicente, Asunción, Prat Torres, Carolina, Combalia, Andrea, Monsonís, Manuel, Celis‐Passini, Veronica Paola, González‐Enseñat, María Antonia

المصدر: Pediatric Dermatology ; volume 34, issue 6 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1111/pde.13286
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fpde.13286
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.13286

المؤلفون: Berbegal, Laura, Vicente, Maria Asunción, Betlloch, Isabel, González-Enseñat, Maria Antonia

المصدر: Piel ; volume 32, issue 3, page 150-154 ; ISSN 0213-9251

الاتاحة: http://dx.doi.org/10.1016/j.piel.2016.07.006
https://api.elsevier.com/content/article/PII:S0213925116302143?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0213925116302143?httpAccept=text/xml

المؤلفون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/GEHU - Génétique, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Centre de malformations vasculaires congénitales, Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E., Amor, David J., Bisdorff, Anouck, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David J., Dupont, Juliette, González-Enseñat, Maria Antonia, Frieden, Ilona, Gerard, Marion, Kvarnung, Malin, Kwan Hanson-Kahn, Andrea, Hudgins, Louanne, Leaute-Labreze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Petit, Florence, Phan, Alice, Quere, Isabelle, Salhi, Aicha, Turner, Anne, Vabres, Pierre, Vicente, Asuncion, Wargon, Orli, Watanabe, Shoji, Weibel, Lisa, Wilson, Ashley, Willing, Marcia, Mulliken, John B., Boon, Laurence M., Vikkula, Miikka

المصدر: Circulation, Vol. 136, no. 11, p. 1037-1048 (2017)

مصطلحات الفهرس: Arteriovenous fistula, Arteriovenous malformation, Capillary, Genetics, Linkage, Vascular disease, Vascular endothelial function, Venous, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/183933

المؤلفون: Curto‐Barredo, Laia, Vicente, Asunción, Rovira, Carlota, García‐Diez, Eloy, Pujol, Ramón M., González‐Enseñat, Maria Antonia

المصدر: Pediatric Dermatology ; volume 32, issue 4, page 536-538 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1111/pde.12487
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fpde.12487
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.12487

المؤلفون: Revencu, Nicole, Boon, Laurence M., Mendola, Antonella, Cordisco, Maria Rosa, Dubois, Josée, Clapuyt, Philippe, Hammer, Frank, Amor, David J, Irvine, Alan D, Baselga, Eulalia, Dompmartin, Anne, Syed, Samira, Martin-Santiago, Ana, Ades, Lesley, Collins, Felicity, Smith, Janine, Sandaradura, Sarah, Barrio, Victoria R, Burrows, Patricia E, Blei, Francine, Cozzolino, Mariarosaria, Brunetti-Pierri, Nicola, Vicente, Asuncion, Abramowicz, Marc, Désir, Julie, Vilain, Catheline, Chung, Wendy K, Wilson, Ashley, Gardiner, Carol A, Dwight, Yim, Lord, David J E, Fishman, Leona, Cytrynbaum, Cheryl, Chamlin, Sarah, Ghali, Fred, Gilaberte, Yolanda, Joss, Shelagh, Boente, Maria Del C, Léauté-Labrèze, Christine, Delrue, Marie-Ange, Bayliss, Susan, Martorell, Loreto, González-Enseñat, Maria-Antonia, Mazereeuw-Hautier, Juliette, O'Donnell, Brid, Bessis, Didier, Pyeritz, Reed E, Salhi, Aicha, Tan, Oon T, Wargon, Orli, Mulliken, John B, Vikkula, Miikka

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/IMAG - Pôle d'imagerie médicale, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Service de radiologie, UCL - (SLuc) Centre de malformations vasculaires congénitales

المصدر: Human Mutation, Vol. 34, no.12, p. 1632-1641 (2013)

مصطلحات موضوعية: Amino Acid Substitution, Mutation, Phenotype, Port-Wine Stain, Prospective Studies, Retrospective Studies, p120 GTPase Activating Protein, Arteriovenous Malformations, Capillaries, DNA Mutational Analysis, Female, Gene Order, Genetic Association Studies, Humans, Male

Relation: boreal:156811; http://hdl.handle.net/2078.1/156811; info:pmid/24038909

الاتاحة: http://hdl.handle.net/2078.1/156811
https://doi.org/10.1002/humu.22431

المؤلفون: Vicente, Asunción, Pau-Charles, Ignasi, González-Enseñat, Maria Antonia, Muñoz-Almagro, Carmen, Cañadas, Mari P., Noguera-Julian, Antoni, Fortuny, Claudia

المصدر: Journal of the American Academy of Dermatology ; volume 68, issue 2, page 343-345 ; ISSN 0190-9622

الاتاحة: http://dx.doi.org/10.1016/j.jaad.2012.08.026
https://api.elsevier.com/content/article/PII:S0190962212009152?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0190962212009152?httpAccept=text/plain

المؤلفون: Mota-Burgos, Ana, Villa, Asunción Vicente, Noguera-Julian, Antoni, Fortuny, Claudia, González-Enseñat, María Antonia

المصدر: Pediatric Infectious Disease Journal ; volume 31, issue 7, page 789 ; ISSN 0891-3668

الاتاحة: http://dx.doi.org/10.1097/inf.0b013e31824f1d7f
https://journals.lww.com/10.1097/INF.0b013e31824f1d7f

المؤلفون: Hernández-Martín, Angela, Garcia-Doval, Ignacio, Aranegui, Beatriz, de Unamuno, Pablo, Rodríguez-Pazos, Laura, González-Enseñat, Maria-Antonia, Vicente, Asunción, Martín-Santiago, Ana, Garcia-Bravo, Begoña, Feito, Marta, Baselga, Eulalia, Círia, Sara, de Lucas, Raúl, Ginarte, Manuel, González-Sarmiento, Rogelio, Torrelo, Antonio

المصدر: Journal of the American Academy of Dermatology ; volume 67, issue 2, page 240-244 ; ISSN 0190-9622

الاتاحة: http://dx.doi.org/10.1016/j.jaad.2011.07.033
https://api.elsevier.com/content/article/PII:S0190962211008310?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0190962211008310?httpAccept=text/plain

المؤلفون: Rodríguez-Fanjul, Xavier, Noguera, Antoni, Vicente, Asunción, González-Enseñat, Maria Antònia, Jiménez, Rafael, Fortuny, Clàudia

المصدر: Pediatric Infectious Disease Journal ; volume 29, issue 6, page 574-576 ; ISSN 0891-3668

الاتاحة: http://dx.doi.org/10.1097/inf.0b013e3181d76f7f
https://journals.lww.com/10.1097/INF.0b013e3181d76f7f

المؤلفون: Pascal, Mariona, Aróstegui, Juan Ignacio, Modesto, Consuelo, Arguelles, Federico, Cid, María Cinta, González-Enseñat, Maria Antonia, Ramos, Eduardo, García-Consuegra, Julia, Bou, Rosa, Molero, Xavier, Calvo, Inmaculada, Gamir, Maria Luz, Anton, Jordi, Arnal, Cristina, Vargas, Carmen, Cabades, Francisco, Camacho, Mari Sol, Plaza, Susana, Rius, Josefina, Yagüe, Jordi, Juan, Manel

المصدر: Clinical Immunology ; volume 131, page S147-S148 ; ISSN 1521-6616

الاتاحة: http://dx.doi.org/10.1016/j.clim.2009.03.435
https://api.elsevier.com/content/article/PII:S1521661609005075?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1521661609005075?httpAccept=text/plain

المؤلفون: Jaén-Larrieu, Anouk, Vicente-Villa, Asunción, Aguilera-Pérez, Paula, González-Enseñat, María Antonia, Juncosa-Morros, Teresa, Fumadó-Pérez, Victoria

المصدر: Journal of the American Academy of Dermatology ; volume 61, issue 6, page 1079-1080 ; ISSN 0190-9622

الاتاحة: http://dx.doi.org/10.1016/j.jaad.2009.06.064
https://api.elsevier.com/content/article/PII:S0190962209008226?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0190962209008226?httpAccept=text/plain

المؤلفون: Ramírez, Manuela Esteban, Youseef, Wael Fasheh, Romero, Roser Garrido, Martínez, José María Quintillá, González‐Enseñat, Maria Antonia, Vilaplana, Xavier Sanmartí, Cubells, Carles Luaces

المصدر: Pediatric Dermatology ; volume 23, issue 3, page 282-285 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1111/j.1525-1470.2006.00236.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1525-1470.2006.00236.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1525-1470.2006.00236.x