Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome

Por Ajmi, Houda, Ruiz Perez, Victor L., Hassayoun, Saida, Mabrouk, Sameh, Mahdoui, Sana, Boughzela, Essia, Zouari, Noura, Abroug, Saoussan
Publicado no Int J Pediatr Adolesc Med (2015)

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

Por Valencia, Maria, Tabet, Lara, Yazbeck, Nadine, Araj, Alia, Ruiz-Perez, Victor L., Charaffedine, Khalil, Fares, Farah, Badra, Rebecca, Farra, Chantal
Publicado no Case Rep Genet (2015)

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

Por Blair, Helen J, Tompson, Stuart, Liu, Yu-Ning, Campbell, Jennifer, MacArthur, Katie, Ponting, Chris P, Ruiz-Perez, Victor L, Goodship, Judith A
Publicado em 2011

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

Por Ibarra-Ramirez, Marisol, Campos-Acevedo, Luis Daniel, Lugo-Trampe, Jose, Martínez-Garza, Laura E., Martinez-Glez, Víctor, Valencia-Benitez, María, Lapunzina, Pablo, Ruiz-Peréz, Víctor
Publicado no Am J Case Rep (2017)

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation

Por Pan-Hammarström, Qiang, Lähdesmäki, Aleksi, Zhao, Yaofeng, Du, Likun, Zhao, Zhihui, Wen, Sicheng, Ruiz-Perez, Victor L., Dunn-Walters, Deborah K., Goodship, Judith A., Hammarström, Lennart
Publicado em 2006

Título não disponível

Por Pan-Hammarström, Qiang, Lähdesmäki, Aleksi, Zhao, Yaofeng, Du, Likun, Zhao, Zhihui, Wen, Sicheng, Ruiz-Perez, Victor L., Dunn-Walters, Deborah K., Goodship, Judith A., Hammarström, Lennart
Publicado em 2006

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

Por Lapunzina, Pablo, Aglan, Mona, Temtamy, Samia, Caparrós-Martín, José A., Valencia, Maria, Letón, Rocío, Martínez-Glez, Victor, Elhossini, Rasha, Amr, Khalda, Vilaboa, Nuria, Ruiz-Perez, Victor L.
Publicado em 2010

Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta

Por Martínez-Glez, Víctor, Valencia, Maria, Caparrós-Martín, José A., Aglan, Mona, Temtamy, Samia, Tenorio, Jair, Pulido, Veronica, Lindert, Uschi, Rohrbach, Marianne, Eyre, David, Giunta, Cecilia, Lapunzina, Pablo, Ruiz-Perez, Victor L.
Publicado em 2011

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Por Ruiz-Perez, Victor L., Tompson, Stuart W. J., Blair, Helen J., Espinoza-Valdez, Cecilia, Lapunzina, Pablo, Silva, Elias O., Hamel, Ben, Gibbs, John L., Young, Ian D., Wright, Michael J., Goodship, Judith A.
Publicado em 2003

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Por Caparrós-Martín, José A., De Luca, Alessandro, Cartault, François, Aglan, Mona, Temtamy, Samia, Otaify, Ghada A., Mehrez, Mennat, Valencia, María, Vázquez, Laura, Alessandri, Jean-Luc, Nevado, Julián, Rueda-Arenas, Inmaculada, Heath, Karen E., Digilio, Maria Cristina, Dallapiccola, Bruno, Goodship, Judith A., Mill, Pleasantine, Lapunzina, Pablo, Ruiz-Perez, Victor L.
Publicado no Hum Mol Genet (2015)

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Por Caparros‐Martin, Jose A., Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Valencia, Maria, Nevado, Julián, Vallespin, Elena, Del Pozo, Angela, Prior de Castro, Carmen, Calatrava‐Ferreras, Lucia, Gutierrez, Pilar, Bueno, Ana M., Sagastizabal, Belen, Guillen‐Navarro, Encarna, Ballesta‐Martinez, Maria, Gonzalez, Vanesa, Basaran, Sarenur Y., Buyukoglan, Ruksan, Sarikepe, Bilge, Espinoza‐Valdez, Cecilia, Cammarata‐Scalisi, Francisco, Martinez‐Glez, Victor, Heath, Karen E., Lapunzina, Pablo, Ruiz‐Perez, Victor L.
Publicado no Mol Genet Genomic Med (2016)

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

Por Palomares, María, Delicado, Alicia, Mansilla, Elena, de Torres, María Luisa, Vallespín, Elena, Fernandez, Luis, Martinez-Glez, Victor, García-Miñaur, Sixto, Nevado, Julián, Simarro, Fernando Santos, Ruiz-Perez, Victor L., Lynch, Sally Ann, Sharkey, Freddie H., Thuresson, Ann-Charlotte, Annerén, Göran, Belligni, Elga F., Martínez-Fernández, María Luisa, Bermejo, Eva, Nowakowska, Beata, Kutkowska-Kazmierczak, Anna, Bocian, Ewa, Obersztyn, Ewa, Martínez-Frías, María Luisa, Hennekam, Raoul C.M., Lapunzina, Pablo
Publicado em 2011

Mutations in WNT1 Cause Different Forms of Bone Fragility

Por Keupp, Katharina, Beleggia, Filippo, Kayserili, Hülya, Barnes, Aileen M., Steiner, Magdalena, Semler, Oliver, Fischer, Björn, Yigit, Gökhan, Janda, Claudia Y., Becker, Jutta, Breer, Stefan, Altunoglu, Umut, Grünhagen, Johannes, Krawitz, Peter, Hecht, Jochen, Schinke, Thorsten, Makareeva, Elena, Lausch, Ekkehart, Cankaya, Tufan, Caparrós-Martín, José A., Lapunzina, Pablo, Temtamy, Samia, Aglan, Mona, Zabel, Bernhard, Eysel, Peer, Koerber, Friederike, Leikin, Sergey, Garcia, K. Christopher, Netzer, Christian, Schönau, Eckhard, Ruiz-Perez, Victor L., Mundlos, Stefan, Amling, Michael, Kornak, Uwe, Marini, Joan, Wollnik, Bernd
Publicado em 2013

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Por Estañ, María Cristina, Fernández-Núñez, Elisa, Zaki, Maha S., Esteban, María Isabel, Donkervoort, Sandra, Hawkins, Cynthia, Caparros-Martin, José A., Saade, Dimah, Hu, Ying, Bolduc, Véronique, Chao, Katherine Ru-Yui, Nevado, Julián, Lamuedra, Ana, Largo, Raquel, Herrero-Beaumont, Gabriel, Regadera, Javier, Hernandez-Chico, Concepción, Tizzano, Eduardo F., Martinez-Glez, Victor, Carvajal, Jaime J., Zong, Ruiting, Nelson, David L., Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Issa, Mahmoud, Bönnemann, Carsten G., Lapunzina, Pablo, Yoon, Grace, Ruiz-Perez, Victor L.
Publicado no Nat Commun (2019)