Works by Ramos, Feliciano

Results: 50
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    Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056.

    Published in:
    Science Translational Medicine, 2011, v. 3, n. 64, p. 1, doi. 10.1126/scitranslmed.3001708
    By:
    • Jacquemont, Sébastien;
    • Curie, Aurore;
    • des Portes, Vincent;
    • Torrioli, Maria Giulia;
    • Berry-Kravis, Elizabeth;
    • Hagerman, Randi J.;
    • Ramos, Feliciano J.;
    • Cornish, Kim;
    • Yunsheng He;
    • Paulding, Charles;
    • Neri, Giovanni;
    • Fei Chen;
    • Hadjikhani, Nouchine;
    • Martinet, Danielle;
    • Meyer, Joanne;
    • Beckmann, Jacques S.;
    • Delange, Karine;
    • Brun, Amandine;
    • Bussy, Gerald;
    • Gasparini, Fabrizio
    Publication type:
    Article
    3

    Synthesis, characterization, DNA interaction studies, and biological evaluation of copper(II) hybrids containing azole drugs and intercalating ligands against neglected diseases.

    Published in:
    Metallomics, 2025, v. 17, n. 5, p. 1, doi. 10.1093/mtomcs/mfaf012
    By:
    • de Azevedo-França, José Aleixo;
    • dos Santos Ramos, Victor Feliciano;
    • Tessaro, Patrícia Salvador;
    • Silva, Heveline;
    • Messori, Luigi;
    • Santanni, Fabio;
    • Sorace, Lorenzo;
    • Borba-Santos, Luana Pereira;
    • Rozental, Sonia;
    • Rodrigues, Juliany Cola Fernandes;
    • Navarro, Maribel
    Publication type:
    Article
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    Cornelia de Lange syndrome and cancer: An open question.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 292, doi. 10.1002/ajmg.a.62992
    By:
    • Pallotta, Maria M.;
    • Di Nardo, Maddalena;
    • Hennekam, Raoul C. M.;
    • Kaiser, Frank J.;
    • Parenti, Ilaria;
    • Pié, Juan;
    • Ramos, Feliciano J.;
    • Kline, Antonie D.;
    • Musio, Antonio
    Publication type:
    Article
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    Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24808-z
    By:
    • Garcia, Patricia;
    • Fernandez-Hernandez, Rita;
    • Cuadrado, Ana;
    • Coca, Ignacio;
    • Gomez, Antonio;
    • Maqueda, Maria;
    • Latorre-Pellicer, Ana;
    • Puisac, Beatriz;
    • Ramos, Feliciano J.;
    • Sandoval, Juan;
    • Esteller, Manel;
    • Mosquera, Jose Luis;
    • Rodriguez, Jairo;
    • Pié, J.;
    • Losada, Ana;
    • Queralt, Ethel
    Publication type:
    Article
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    Identification of copy‐number variants in patients with overgrowth disorders.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596
    By:
    • Parra, Alejandro;
    • Tenorio‐Castano, Jair;
    • Nevado, Julián;
    • Cazalla, Mario;
    • Miranda‐Alcaraz, Lucía;
    • Gallego‐Zazo, Natalia;
    • Silván, Cristina;
    • Arias, Pedro;
    • Pozo‐Román, Jesús;
    • Ballesta‐Martínez, María Juliana;
    • Guillén‐Navarro, Encarna;
    • Arroyo, Ignacio;
    • Lotersztein, Vanesa;
    • Cosentino, Viviana;
    • González‐Meneses, Antonio;
    • Galán, Enrique;
    • Rosell, Jordi;
    • Ramos, Feliciano;
    • Plasencia, Antonio;
    • Rosa, Alberto L.
    Publication type:
    Article
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    Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

    Published in:
    Clinical Genetics, 2020, v. 98, n. 6, p. 571, doi. 10.1111/cge.13851
    By:
    • Gold, Nina B.;
    • Li, Dong;
    • Chassevent, Anna;
    • Kaiser, Frank J.;
    • Parenti, Ilaria;
    • Strom, Tim M.;
    • Ramos, Feliciano J.;
    • Puisac, Beatriz;
    • Pié, Juan;
    • McWalter, Kirsty;
    • Guillen Sacoto, Maria J.;
    • Cui, Hong;
    • Saadeh‐Haddad, Reem;
    • Smith‐Hicks, Constance;
    • Rodan, Lance;
    • Blair, Edward;
    • Bhoj, Elizabeth
    Publication type:
    Article
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    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
    10

    Clinical utility gene card for: Cornelia de Lange syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.270
    By:
    • Ramos, Feliciano J;
    • Puisac, Beatriz;
    • Baquero-Montoya, Carolina;
    • Gil-Rodríguez, Ma Concepción;
    • Bueno, Inés;
    • Deardorff, Matthew A;
    • Hennekam, Raoul C;
    • Kaiser, Frank J;
    • Krantz, Ian D;
    • Musio, Antonio;
    • Selicorni, Angelo;
    • FitzPatrick, David R;
    • Pié, Juan
    Publication type:
    Article
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    DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

    Published in:
    Nature Genetics, 2006, v. 38, n. 11, p. 1248, doi. 10.1038/ng1868
    By:
    • Lorenz-Depiereux, Bettina;
    • Bastepe, Murat;
    • Benet-Pagès, Anna;
    • Amyere, Mustapha;
    • Wagenstaller, Janine;
    • Müller-Barth, Ursula;
    • Badenhoop, Klaus;
    • Kaiser, Stephanie M.;
    • Rittmaster, Roger S.;
    • Shlossberg, Alan H.;
    • Olivares, José L.;
    • Loris, César;
    • Ramos, Feliciano J.;
    • Glorieux, Francis;
    • Vikkula, Miikka;
    • Jüppner, Harald;
    • Strom, Tim M.
    Publication type:
    Article
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    Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9649, doi. 10.3390/ijms23179649
    By:
    • Arnedo, María;
    • Ascaso, Ángela;
    • Latorre-Pellicer, Ana;
    • Lucia-Campos, Cristina;
    • Gil-Salvador, Marta;
    • Ayerza-Casas, Ariadna;
    • Pablo, María Jesús;
    • Gómez-Puertas, Paulino;
    • Ramos, Feliciano J.;
    • Bueno-Lozano, Gloria;
    • Pié, Juan;
    • Puisac, Beatriz
    Publication type:
    Article
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    Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 1042, doi. 10.3390/ijms21031042
    By:
    • Latorre-Pellicer, Ana;
    • Ascaso, Ángela;
    • Trujillano, Laura;
    • Gil-Salvador, Marta;
    • Arnedo, Maria;
    • Lucia-Campos, Cristina;
    • Antoñanzas-Pérez, Rebeca;
    • Marcos-Alcalde, Iñigo;
    • Parenti, Ilaria;
    • Bueno-Lozano, Gloria;
    • Musio, Antonio;
    • Puisac, Beatriz;
    • Kaiser, Frank J.;
    • Ramos, Feliciano J.;
    • Gómez-Puertas, Paulino;
    • Pié, Juan
    Publication type:
    Article
    17

    mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.

    Published in:
    International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 481, doi. 10.3390/ijms18030481
    By:
    • Puisac, Beatriz;
    • Teresa-Rodrigo, María-Esperanza;
    • Hernández-Marcos, María;
    • Baquero-Montoya, Carolina;
    • Gil-Rodríguez, María-Concepción;
    • Visnes, Torkild;
    • Bot, Christopher;
    • Gómez-Puertas, Paulino;
    • Kaiser, Frank J.;
    • Ramos, Feliciano J.;
    • Ström, Lena;
    • Pié, Juan
    Publication type:
    Article
    18

    Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome.

    Published in:
    International Journal of Molecular Sciences, 2014, v. 15, n. 6, p. 10350, doi. 10.3390/ijms150610350
    By:
    • Teresa-Rodrigo, María E.;
    • Eckhold, Juliane;
    • Puisac, Beatriz;
    • Dalski, Andreas;
    • Gil-Rodríguez, María C.;
    • Braunholz, Diana;
    • Baquero, Carolina;
    • Hernández-Marcos, María;
    • de Karam, Juan C.;
    • Ciero, Milagros;
    • Santos-Simarro, Fernando;
    • Lapunzina, Pablo;
    • Wierzba, Jolanta;
    • Casale, César H.;
    • Ramos, Feliciano J.;
    • Gillessen-Kaesbach, Gabriele;
    • Kaiser, Frank J.;
    • Pié, Juan
    Publication type:
    Article
    19

    Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.

    Published in:
    Molecular Biology Reports, 2012, v. 39, n. 4, p. 4777, doi. 10.1007/s11033-011-1270-8
    By:
    • Puisac, Beatriz;
    • Ramos, Mónica;
    • Arnedo, María;
    • Menao, Sebastián;
    • Gil-Rodríguez, María;
    • Teresa-Rodrigo, María;
    • Pié, Angeles;
    • Karam, Juan;
    • Wesselink, Jan-Jaap;
    • Giménez, Ignacio;
    • Ramos, Feliciano;
    • Casals, Nuria;
    • Gómez-Puertas, Paulino;
    • Hegardt, Fausto;
    • Pié, Juan
    Publication type:
    Article
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    Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome.

    Published in:
    Applied Sciences (2076-3417), 2021, v. 11, n. 2, p. 710, doi. 10.3390/app11020710
    By:
    • Matute-Llorente, Ángel;
    • Ascaso, Ángela;
    • Latorre-Pellicer, Ana;
    • Puisac, Beatriz;
    • Trujillano, Laura;
    • Llorente, Elena;
    • Puente-Lanzarote, Juan José;
    • Ayerza-Casas, Ariadna;
    • Arnedo, María;
    • Moreno, Luis A.;
    • Ramos, Feliciano;
    • Pié, Juan;
    • Casajus, José A.;
    • Bueno-Lozano, Gloria
    Publication type:
    Article
    23

    Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).

    Published in:
    Human Molecular Genetics, 2001, v. 10, n. 5, p. 537, doi. 10.1093/hmg/10.5.537
    By:
    • Balemans, Wendy;
    • Ebeling, Martin;
    • Patel, Neela;
    • Van Hul, Els;
    • Olson, Pam;
    • Dioszegi, Marianna;
    • Lacza, Charlemagne;
    • Wuyts, Wim;
    • Van Den Ende, Jenneke;
    • Willems, Patrick;
    • Paes-Alves, Auristela F.;
    • Hill, Suvimol;
    • Bueno, Manuel;
    • Ramos, Feliciano J.;
    • Tacconi, Paolo;
    • Dikkers, Frederik G.;
    • Stratakis, Constantine;
    • Lindpaintner, Klaus;
    • Vickery, Brian;
    • Foernzler, Dorothee
    Publication type:
    Article
    24

    Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.

    Published in:
    BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/8742939
    By:
    • Teresa-Rodrigo, María E.;
    • Eckhold, Juliane;
    • Puisac, Beatriz;
    • Pozojevic, Jelena;
    • Parenti, Ilaria;
    • Baquero-Montoya, Carolina;
    • Gil-Rodríguez, María C.;
    • Braunholz, Diana;
    • Dalski, Andreas;
    • Hernández-Marcos, María;
    • Ayerza, Ariadna;
    • Bernal, María L.;
    • Ramos, Feliciano J.;
    • Wieczorek, Dagmar;
    • Gillessen-Kaesbach, Gabriele;
    • Pié, Juan;
    • Kaiser, Frank J.
    Publication type:
    Article
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    Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

    Published in:
    Human Mutation, 2009, v. 30, n. 3, p. E520, doi. 10.1002/humu.20966
    By:
    • Menao, Sebastián;
    • López-Viñas, Eduardo;
    • Mir, Cecilia;
    • Puisac, Beatriz;
    • Gratacós, Esther;
    • Arnedo, María;
    • Carrasco, Patricia;
    • Moreno, Susana;
    • Ramos, Mónica;
    • Gil, María Concepción;
    • Pié, Ángeles;
    • Ribes, Antonia;
    • Pérez-Cerda, Celia;
    • Ugarte, Magdalena;
    • Clayton, Peter T.;
    • Korman, Stanley H.;
    • Serra, Dolors;
    • Asins, Guillermina;
    • Ramos, Feliciano J.;
    • Gómez-Puertas, Paulino
    Publication type:
    Article
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    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

    Published in:
    Human Genetics, 2020, v. 139, n. 5, p. 575, doi. 10.1007/s00439-020-02138-2
    By:
    • Krab, Lianne C.;
    • Marcos-Alcalde, Iñigo;
    • Assaf, Melissa;
    • Balasubramanian, Meena;
    • Andersen, Janne Bayer;
    • Bisgaard, Anne-Marie;
    • Fitzpatrick, David R.;
    • Gudmundsson, Sanna;
    • Huisman, Sylvia A.;
    • Kalayci, Tugba;
    • Maas, Saskia M.;
    • Martinez, Francisco;
    • McKee, Shane;
    • Menke, Leonie A.;
    • Mulder, Paul A.;
    • Murch, Oliver D.;
    • Parker, Michael;
    • Pie, Juan;
    • Ramos, Feliciano J.;
    • Rieubland, Claudine
    Publication type:
    Article
    34

    Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

    Published in:
    Human Genetics, 2017, v. 136, n. 3, p. 307, doi. 10.1007/s00439-017-1758-y
    By:
    • Parenti, Ilaria;
    • Teresa-Rodrigo, María;
    • Pozojevic, Jelena;
    • Ruiz Gil, Sara;
    • Bader, Ingrid;
    • Braunholz, Diana;
    • Bramswig, Nuria;
    • Gervasini, Cristina;
    • Larizza, Lidia;
    • Pfeiffer, Lutz;
    • Ozkinay, Ferda;
    • Ramos, Feliciano;
    • Reiz, Benedikt;
    • Rittinger, Olaf;
    • Strom, Tim;
    • Watrin, Erwan;
    • Wendt, Kerstin;
    • Wieczorek, Dagmar;
    • Wollnik, Bernd;
    • Baquero-Montoya, Carolina
    Publication type:
    Article
    35

    Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 2, p. 211, doi. 10.4274/jcrpe.galenos.2022.2022-4-14
    By:
    • Ascaso, Ángela;
    • Latorre-Pellicer, Ana;
    • Puisac, Beatriz;
    • Trujillano, Laura;
    • Arnedo, María;
    • Parenti, Ilaria;
    • Llorente, Elena;
    • José Puente-Lanzarote, Juan;
    • Matute-Llorente, Ángel;
    • Ayerza-Casas, Ariadna;
    • Kaiser, Frank J.;
    • Ramos, Feliciano J.;
    • Pié Juste, Juan;
    • Bueno-Lozano, Gloria
    Publication type:
    Article
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    Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families--Performed in 12 Clinical Laboratories in Spain.

    Published in:
    BioMed Research International, 2014, v. 2014, p. 1, doi. 10.1155/2014/195793
    By:
    • Tejada, María-Isabel;
    • Glover, Guillermo;
    • Martínez, Francisco;
    • Guitart, Miriam;
    • de Diego-Otero, Yolanda;
    • Fernández-Carvajal, Isabel;
    • Ramos, Feliciano J.;
    • Hernández-Chico, Concepción;
    • Pintado, Elizabet;
    • Rosell, Jordi;
    • Calvo, María-Teresa;
    • Ayuso, Carmen;
    • Ramos-Arroyo, María-Antonia;
    • Maortua, Hiart;
    • Milà, Montserrat
    Publication type:
    Article
    43

    Special cases in Cornelia de Lange syndrome: The Spanish experience.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 198, doi. 10.1002/ajmg.c.31501
    By:
    • Pié, Juan;
    • Puisac, Beatriz;
    • Hernández‐Marcos, Maria;
    • Teresa‐Rodrigo, Maria Esperanza;
    • Gil‐Rodríguez, Maria;
    • Baquero‐Montoya, Carolina;
    • Ramos‐Cáceres, Maria;
    • Bernal, Maria;
    • Ayerza‐Casas, Ariadna;
    • Bueno, Inés;
    • Gómez‐Puertas, Paulino;
    • Ramos, Feliciano J.
    Publication type:
    Article
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    Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.

    Published in:
    Genes, 2023, v. 14, n. 9, p. 1664, doi. 10.3390/genes14091664
    By:
    • Pascual, Patricia;
    • Tenorio-Castano, Jair;
    • Mignot, Cyril;
    • Afenjar, Alexandra;
    • Arias, Pedro;
    • Gallego-Zazo, Natalia;
    • Parra, Alejandro;
    • Miranda, Lucia;
    • Cazalla, Mario;
    • Silván, Cristina;
    • Heron, Delphine;
    • Keren, Boris;
    • Popa, Ioana;
    • Palomares, María;
    • Rikeros, Emi;
    • Ramos, Feliciano J.;
    • Almoguera, Berta;
    • Ayuso, Carmen;
    • Swafiri, Saoud Tahsin;
    • Barbero, Ana Isabel Sánchez
    Publication type:
    Article
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    Human variome project country nodes: Documenting genetic information within a country.

    Published in:
    Human Mutation, 2012, v. 33, n. 11, p. 1513, doi. 10.1002/humu.22147
    By:
    • Patrinos, George P.;
    • Smith, Timothy D.;
    • Howard, Heather;
    • Al-Mulla, Fahd;
    • Chouchane, Lotfi;
    • Hadjisavvas, Andreas;
    • Hamed, Sherifa A.;
    • Li, Xi-Tao;
    • Marafie, Makia;
    • Ramesar, Rajkumar S.;
    • Ramos, Feliciano J.;
    • de Ravel, Thomy;
    • El-Ruby, Mona O.;
    • Shrestha, Tilak Ram;
    • Sobrido, María-Jesús;
    • Tadmouri, Ghazi;
    • Witsch-Baumgartner, Martina;
    • Zilfalil, Bin Alwi;
    • Auerbach, Arleen D.;
    • Carpenter, Kevin
    Publication type:
    Article
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