High rate of autonomic neuropathy in Cornelia de Lange Syndrome
Pablo, M. J, Pamplona, P, Haddad, M, Benavente, I, Latorre-Pellicer, A, Arnedo, M, Trujillano, L, Bueno-Lozano, G, Kerr, L. M, Huisman, S. A, Kaiser, F. J, Ramos, F, Kline, A. D, Pie, J, Puisac, B
Published in Orphanet journal of rare diseases (30.10.2021)
Published in Orphanet journal of rare diseases (30.10.2021)
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Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches
Baquero-Montoya, C., Gil-Rodríguez, M.C., Braunholz, D., Teresa-Rodrigo, M.E., Obieglo, C., Gener, B., Schwarzmayr, T., Strom, T.M., Gómez-Puertas, P., Puisac, B., Gillessen-Kaesbach, G., Musio, A., Ramos, F.J., Kaiser, F.J., Pié, J.
Published in Clinical genetics (01.12.2014)
Published in Clinical genetics (01.12.2014)
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Could a patient with SMC1A duplication be classified as a human cohesinopathy?
Baquero-Montoya, C., Gil-Rodríguez, M.C., Teresa-Rodrigo, M.E., Hernández-Marcos, M., Bueno-Lozano, G., Bueno-Martínez, I., Remeseiro, S., Fernández-Hernández, R., Bassecourt-Serra, M., Rodríguez de Alba, M., Queralt, E., Losada, A., Puisac, B., Ramos, F.J., Pié, J.
Published in Clinical genetics (01.05.2014)
Published in Clinical genetics (01.05.2014)
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A single‐residue mutation, G203E, causes 3‐hydroxy‐3‐methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG‐CoA lyase
Mir, C., Lopez‐Viñas, E., Aledo, R., Puisac, B., Rizzo, C., Dionisi‐Vici, C., Deodato, F., Pié, J., Gomez‐Puertas, P., Hegardt, F. G., Casals, N.
Published in Journal of inherited metabolic disease (01.02.2006)
Published in Journal of inherited metabolic disease (01.02.2006)
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Molecular basis of 3-hydroxy-3-methylglutaric aciduria
Pie, J, Casals, N, Puisac, B, Hegardt, F G
Published in Journal of physiology and biochemistry (01.12.2003)
Published in Journal of physiology and biochemistry (01.12.2003)
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MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
Parenti, Ilaria, Diab, Farah, Gil, Sara Ruiz, Mulugeta, Eskeatnaf, Casa, Valentina, Berutti, Riccardo, Brouwer, Rutger W.W., Dupé, Valerie, Eckhold, Juliane, Graf, Elisabeth, Puisac, Beatriz, Ramos, Feliciano, Schwarzmayr, Thomas, Gines, Macarena Moronta, van Staveren, Thomas, van IJcken, Wilfred F.J., Strom, Tim M., Pié, Juan, Watrin, Erwan, Kaiser, Frank J., Wendt, Kerstin S.
Published in Cell reports (Cambridge) (19.05.2020)
Published in Cell reports (Cambridge) (19.05.2020)
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De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
Gil-Rodríguez, María Concepción, Deardorff, Matthew A., Ansari, Morad, Tan, Christopher A., Parenti, Ilaria, Baquero-Montoya, Carolina, Ousager, Lilian B., Puisac, Beatriz, Hernández-Marcos, María, Teresa-Rodrigo, María Esperanza, Marcos-Alcalde, Iñigo, Wesselink, Jan-Jaap, Lusa-Bernal, Silvia, Bijlsma, Emilia K., Braunholz, Diana, Bueno-Martinez, Inés, Clark, Dinah, Cooper, Nicola S., Curry, Cynthia J., Fisher, Richard, Fryer, Alan, Ganesh, Jaya, Gervasini, Cristina, Gillessen-Kaesbach, Gabriele, Guo, Yiran, Hakonarson, Hakon, Hopkin, Robert J., Kaur, Maninder, Keating, Brendan J., Kibaek, María, Kinning, Esther, Kleefstra, Tjitske, Kline, Antonie D., Kuchinskaya, Ekaterina, Larizza, Lidia, Li, Yun R., Liu, Xuanzhu, Mariani, Milena, Picker, Jonathan D., Pié, Ángeles, Pozojevic, Jelena, Queralt, Ethel, Richer, Julie, Roeder, Elizabeth, Sinha, Anubha, Scott, Richard H., So, Joyce, Wusik, Katherine A., Wilson, Louise, Zhang, Jianguo, Gómez-Puertas, Paulino, Casale, César H., Ström, Lena, Selicorni, Angelo, Ramos, Feliciano J., Jackson, Laird G., Krantz, Ian D., Das, Soma, Hennekam, Raoul C.M., Kaiser, Frank J., FitzPatrick, David R., Pié, Juan
Published in Human mutation (01.04.2015)
Published in Human mutation (01.04.2015)
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A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination
Enervald, Elin, Du, Likun, Visnes, Torkild, Björkman, Andrea, Lindgren, Emma, Wincent, Josephine, Borck, Guntram, Colleaux, Laurence, Cormier-Daire, Valerie, van Gent, Dik C, Pie, Juan, Puisac, Beatriz, de Miranda, Noel Fcc, Kracker, Sven, Hammarström, Lennart, de Villartay, Jean-Pierre, Durandy, Anne, Schoumans, Jacqueline, Ström, Lena, Pan-Hammarström, Qiang
Published in The Journal of experimental medicine (18.11.2013)
Published in The Journal of experimental medicine (18.11.2013)
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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
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
Published in International journal of molecular sciences (23.02.2017)
Published in International journal of molecular sciences (23.02.2017)
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Structural ( beta alpha ) sub(8) TIM Barrel Model of 3-Hydroxy-3- methylglutaryl-Coenzyme A Lyase
Casals, N, Gomez-Puertas, P, Pie, J, Mir, C, Roca, R, Puisac, B, Aledo, R, Clotet, J, Menao, S, Serra, D, Asins, G, Till, J, Elias-Jones, A C, Cresto, J C, Chamoles, NA, Abdenur, JE, Mayatepek, E, Besley, G, Valencia, A, Hegardt, F G
Published in The Journal of biological chemistry (01.08.2003)
Published in The Journal of biological chemistry (01.08.2003)
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We-P11:275 Analysis of TLR-4 and CD14 polymorphisms in familial hypercholesterolaemia patients
Recalde, D., Martin-Fuentes, P., Puisac, B., Garcia-Otin, A.L., Cenarro, A., Jarauta, E., Lopez-Cabañas, J.A., Civeira, F.
Published in Atherosclerosis. Supplements (01.01.2006)
Published in Atherosclerosis. Supplements (01.01.2006)
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Journal Article
Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches
Baquero-Montoya, C, Gil-Rodríguez, M C, Braunholz, D, Teresa-Rodrigo, M E, Obieglo, C, Gener, B, Schwarzmayr, T, Strom, T M, Gómez-Puertas, P, Puisac, B, Gillessen-Kaesbach, G, Musio, A, Ramos, F J, Kaiser, F J, Pié, J
Published in Clinical genetics (01.12.2014)
Published in Clinical genetics (01.12.2014)
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