Works matching AU Perez, Victor L.


Results: 80
    1

    Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 108, n. 2, p. 224, doi. 10.1111/cge.14761
    By:
    • Parra, Alejandro;
    • Jimenez‐Estrada, Juan A.;
    • Vásquez‐Amell, Valeria;
    • Cazalla, Mario;
    • Rodríguez‐Canó, Manuel;
    • Gallego‐Zazo, Natalia;
    • Miranda, Lucia;
    • Mora‐Gómez, Mónica;
    • Vallespín, Elena;
    • Mena, Rocío;
    • Fernández, Luis;
    • Silván, Cristina;
    • Arias, Pedro;
    • Dominguez‐Jiménez, Marta;
    • Guillén‐Navarro, Encarna;
    • Nevado, Julián;
    • Tenorio‐Castano, Jair;
    • Ruiz‐Pérez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
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    A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 100, doi. 10.1002/ajmg.a.62994
    By:
    • Álvarez, Luis Francisco González;
    • Tenorio‐Castaño, Jair;
    • Poletta, Fernando A.;
    • Santos‐Simarro, Fernando;
    • Arias, Pedro;
    • Gallego, Natalia;
    • Orioli, Iêda Maria;
    • Mundlos, Stefan;
    • Castilla, Eduardo E.;
    • Martínez‐Glez, Víctor;
    • Martínez‐Frías, María Luisa;
    • Ruiz‐Pérez, Víctor L.;
    • Nevado, Julián;
    • Lapunzina, Pablo
    Publication type:
    Article
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    Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 6, p. 713, doi. 10.1111/cge.14601
    By:
    • Tenorio‐Castano, Jair;
    • Mansilla Aparicio, Elena;
    • García Santiago, Fe Amalia;
    • Klotz, Cherise M.;
    • Regojo, Rita María;
    • Anguita, Estefanía;
    • Ryan, Erin;
    • Juusola, Jane;
    • Herrero, Beatriz;
    • Arias, Pedro;
    • Parra, Alejandro;
    • Pascual, Patricia;
    • Gallego, Natalia;
    • Cazalla, Mario;
    • Rodriguez‐González, Roberto;
    • Antolín, Eugenia;
    • Nevado, Julián;
    • Ruiz‐Perez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
    19

    MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 6, p. 726, doi. 10.1111/cge.13504
    By:
    • Tenorio, Jair;
    • Alarcón, Pablo;
    • Arias, Pedro;
    • Ramos, Feliciano J.;
    • Campistol, Jaume;
    • Climent, Salvador;
    • García‐Miñaur, Sixto;
    • Dapía, Irene;
    • Hernández, Alicia;
    • Nevado, Julián;
    • Solís, Mario;
    • Ruiz‐Pérez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
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    Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

    Published in:
    Nature Genetics, 2000, v. 24, n. 3, p. 283, doi. 10.1038/73508
    By:
    • Ruiz-Perez, Victor L.;
    • Ide, Susan E.;
    • Strom, Tim M.;
    • Lorenz, Bettina;
    • Wilson, David;
    • Woods, Kathryn;
    • King, Lynn;
    • Francomano, Clair;
    • Freisinger, Peter;
    • Spranger, Stephanie;
    • Marino, Bruno;
    • Dallapiccola, Bruno;
    • Wright, Michael;
    • Meitinger, Thomas;
    • Polymeropoulos, Mihael H.;
    • Goodship, Judith
    Publication type:
    Article
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    ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

    Published in:
    Human Molecular Genetics, 1999, v. 8, n. 9, p. 1621, doi. 10.1093/hmg/8.9.1621
    By:
    • Ruiz-Perez, Victor L.;
    • Carter, Simon A.;
    • Healy, Eugene;
    • Todd, Carole;
    • Rees, Jonathan L.;
    • Steijlen, Peter M.;
    • Carmichael, Andrew J.;
    • Lewis, Helen M.;
    • Hohl, D.;
    • Itin, Peter;
    • Vahlquist, Anders;
    • Gobello, T.;
    • Mazzanti, C.;
    • Reggazini, R.;
    • Nagy, Gyula;
    • Munro, Colin S.;
    • Strachan, Tom
    Publication type:
    Article
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    Tissue engineering of corneal stroma via melt electrowriting.

    Published in:
    Journal of Tissue Engineering & Regenerative Medicine, 2021, v. 15, n. 10, p. 841, doi. 10.1002/term.3235
    By:
    • Gao, Qi;
    • Xie, Jiajun;
    • Salero, Enrique;
    • Nuñez del Prado, Zelmira;
    • Hutmacher, Dietmar W.;
    • Ye, Juan;
    • De Juan‐Pardo, Elena M.;
    • Sabater, Alfonso L.;
    • Perez, Victor L.
    Publication type:
    Article
    32

    Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling.

    Published in:
    Human Mutation, 2009, v. 30, n. 12, p. 1667, doi. 10.1002/humu.21117
    By:
    • Valencia, Maria;
    • Lapunzina, Pablo;
    • Lim, Derek;
    • Zannolli, Raffaella;
    • Bartholdi, Deborah;
    • Wollnik, Bernd;
    • Al-Ajlouni, Othman;
    • Eid, Suhair S.;
    • Cox, Helen;
    • Buoni, Sabrina;
    • Hayek, Joseph;
    • Martinez-Frias, Maria L.;
    • Antonio, Perez-Aytes;
    • Temtamy, Samia;
    • Aglan, Mona;
    • Goodship, Judith A.;
    • Ruiz-Perez, Victor L.
    Publication type:
    Article
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    Operational immune tolerance towards transplanted allogeneic pancreatic islets in mice and a non-human primate.

    Published in:
    Diabetologia, 2019, v. 62, n. 5, p. 811, doi. 10.1007/s00125-019-4814-4
    By:
    • Abdulreda, Midhat H.;
    • Berman, Dora M.;
    • Shishido, Alexander;
    • Martin, Christopher;
    • Hossameldin, Maged;
    • Tschiggfrie, Ashley;
    • Hernandez, Luis F.;
    • Hernandez, Ana;
    • Ricordi, Camillo;
    • Parel, Jean-Marie;
    • Jankowska-Gan, Ewa;
    • Burlingham, William J.;
    • Arrieta-Quintero, Esdras A.;
    • Perez, Victor L.;
    • Kenyon, Norma S.;
    • Berggren, Per-Olof
    Publication type:
    Article
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    Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1323, doi. 10.1002/ajmg.a.36930
    By:
    • Mattos, Eduardo P.;
    • Silva, André Anjos da;
    • Magalhães, José Antônio A;
    • Leite, Júlio César L.;
    • Leistner‐Segal, Sandra;
    • Gus‐Kessler, Rejane;
    • Perez, Juliano Adams;
    • Vedolin, Leonardo M.;
    • Torreblanca‐Zanca, Albertina;
    • Lapunzina, Pablo;
    • Ruiz‐Perez, Victor L.;
    • Sanseverino, Maria Teresa V.
    Publication type:
    Article
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    Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1143, doi. 10.1002/ajmg.a.36427
    By:
    • Valencia, María;
    • Caparrós‐Martin, Jose A.;
    • Sirerol‐Piquer, María Salomé;
    • García‐Verdugo, José Manuel;
    • Martínez‐Glez, Víctor;
    • Lapunzina, Pablo;
    • Temtamy, Samia;
    • Aglan, Mona;
    • Lund, Allan M.;
    • Nikkels, Peter G. J.;
    • Ruiz‐Perez, Victor L.;
    • Ostergaard, Elsebet
    Publication type:
    Article
    44

    Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1136, doi. 10.1002/ajmg.a.36409
    By:
    • Guillén‐Navarro, Encarna;
    • Ballesta‐Martínez, María Juliana;
    • Valencia, María;
    • Bueno, Ana María;
    • Martinez‐Glez, Victor;
    • López‐González, Vanesa;
    • Burnyte, Birute;
    • Utkus, Algirdas;
    • Lapunzina, Pablo;
    • Ruiz‐Perez, Victor L.
    Publication type:
    Article
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    Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1354, doi. 10.1002/ajmg.a.35938
    By:
    • Caparrós‐Martin, José A.;
    • Valencia, María;
    • Pulido, Veronica;
    • Martínez‐Glez, Victor;
    • Rueda‐Arenas, Inmaculada;
    • Amr, Khalda;
    • Farra, Chantal;
    • Lapunzina, Pablo;
    • Ruiz‐Perez, Victor L.;
    • Temtamy, Samia;
    • Aglan, Mona
    Publication type:
    Article
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