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1

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder

Gold, Nina B., Li, Dong, Chassevent, Anna, Kaiser, Frank J., Parenti, Ilaria, Strom, Tim M., Ramos, Feliciano J., Puisac, Beatriz, PiÃ©, Juan, McWalter, Kirsty, Guillen Sacoto, Maria J., Cui, Hong, Sa

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 1.13 MB

2020

2

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

Juan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, Eduardo López-Viñas, María Pilar Ribate, María Arnedo, Matthew A. Deardorff, Beatriz Puisac, Jesús Legarreta, Juan Carlos de Karam, Encarnació

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 198 KB

english, 2010

3

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

Sebastián Menao, Eduardo López-Viñas, Cecilia Mir, Beatriz Puisac, Esther Gratacós, María Arnedo, Patricia Carrasco, Susana Moreno, Mónica Ramos, María Concepción Gil, Ángeles Pié, Antonia Ribes, Celi

Journal:

Year:

2009

Language:

english

File:

PDF, 515 KB

english, 2009

4

Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM Barrel model of HL

Beatriz Puisac, Eduardo López-Viñas, Susana Moreno, Cecilia Mir, Celia Pérez-Cerdá, Sebastián Menao, Dolores Lluch, Angeles Pié, Paulino Gómez-Puertas, Nuria Casals, Magdalena Ugarte, FaustoG. Hegardt

Journal:

Biophysical Chemistry

Year:

2005

Language:

english

File:

PDF, 348 KB

english, 2005

5

Molecular basis of 3-hydroxy-3-methylglutaric aciduria

J. Pie, N. Casals, B. Puisac, F. G. Hegardt

Journal:

Journal of Physiology and Biochemistry

Year:

2003

Language:

english

File:

PDF, 857 KB

english, 2003

6

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

C. Mir, E. Lopez-Viñas, R. Aledo, B. Puisac, C. Rizzo, C. Dionisi-Vici, F. Deodato, J. Pié, P. Gomez-Puertas, F. G. Hegardt, N. Casals

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 466 KB

english, 2006

7

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

Beatriz Puisac, María Arnedo, Cesar H. Casale, María Pilar Ribate, Tomás Castiella, Feliciano J. Ramos, Antonia Ribes, Celia Pérez-Cerdá, Nuria Casals, Fausto G. Hegardt, Juan Pié

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 140 KB

english, 2010

8

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

Beatriz Puisac, Mónica Ramos, María Arnedo, Sebastián Menao, María Concepción Gil-Rodríguez, María Esperanza Teresa-Rodrigo, Angeles Pié, Juan Carlos de Karam, Jan-Jaap Wesselink, Ignacio Giménez, Fel

Journal:

Molecular Biology Reports

Year:

2012

Language:

english

File:

PDF, 584 KB

english, 2012

9

C-Terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity

Patricia Carrasco, Sebastian Menao, Eduardo López-Viñas, Gabriel Santpere, Josep Clotet, Adriana Y. Sierra, Esther Gratacós, Beatriz Puisac, Paulino Gómez-Puertas, Fausto G. Hegardt, Juan Pie, Núria C

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 2.08 MB

english, 2007

10

Molecular genetics of HMG-CoA lyase deficiency

Juan Pié, Eduardo López-Viñas, Beatriz Puisac, Sebastián Menao, Angeles Pié, Cesar Casale, Feliciano J. Ramos, Fausto G. Hegardt, Paulino Gómez-Puertas, Núria Casals

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 2.26 MB

english, 2007

11

Cornelia de Lange syndrome withNIPBLmutation and mosaic Turner syndrome in the same individual

Jolanta Wierzba, María Concepción Gil-Rodríguez, Anna Polucha, Beatriz Puisac, María Arnedo, María Esperanza Teresa-Rodrigo, Dorota Winnicka, Fausto G Hegardt, Feliciano J Ramos, Janusz Limon, Juan Pi

Journal:

BMC Medical Genetics

Year:

2012

Language:

english

File:

PDF, 404 KB

english, 2012

12

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency

Puisac, Beatriz, Teresa-Rodrigo, María Esperanza, Arnedo, María, Gil-Rodríguez, María Concepción, Pérez-Cerdá, Celia, Ribes, Antonia, Pié, Ángeles, Bueno, Gloria, Gómez-Puertas, Paulino, Pié, Juan

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 963 KB

english, 2013

13

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

Ramos, Mónica, Menao, Sebastián, Arnedo, María, Puisac, Beatriz, Gil-Rodríguez, María Concepción, Teresa-Rodrigo, María Esperanza, Hernández-Marcos, María, Pierre, Germaine, Ramaswami, Uma, Baquero-Mo

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 804 KB

english, 2013

14

Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity

Carrasco, Patricia, Jacas, Jordi, Sahún, Ignasi, Muley, Helena, Ramírez, Sara, Puisac, Beatriz, Mezquita, Pau, Pié, Juan, Dierssen, Mara, Casals, Núria

Journal:

Behavioural Brain Research

Year:

2013

Language:

english

File:

PDF, 1.24 MB

english, 2013

15

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.

Journal:

Atherosclerosis Supplements

Year:

2006

Language:

english

File:

PDF, 302 KB

english, 2006

16

Clinical utility gene card for: Cornelia de Lange syndrome

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, Seli

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 220 KB

english, 2014

17

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, Te

Journal:

Year:

2015

Language:

english

File:

PDF, 935 KB

english, 2015

18

Structural ( )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, N. A., Abdenur, J.

Journal:

Journal of Biological Chemistry

Year:

2003

Language:

english

File:

PDF, 889 KB

english, 2003

19

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

Enervald, E., Du, L., Visnes, T., Bjorkman, A., Lindgren, E., Wincent, J., Borck, G., Colleaux, L., Cormier-Daire, V., van Gent, D. C., Pie, J., Puisac, B., de Miranda, N. F., Kracker, S., Hammarstrom

Journal:

Journal of Experimental Medicine

Year:

2013

Language:

english

File:

PDF, 2.01 MB

english, 2013

20

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., R

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 425 KB

english, 2014

21

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

Teresa-Rodrigo, María, Eckhold, Juliane, Puisac, Beatriz, Dalski, Andreas, Gil-Rodríguez, María, Braunholz, Diana, Baquero, Carolina, Hernández-Marcos, María, de Karam, Juan, Ciero, Milagros, Santos-S

Journal:

International Journal of Molecular Sciences

Year:

2014

Language:

english

File:

PDF, 443 KB

english, 2014

22

Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol

Arnedo, M., Menao, S., Puisac, B., Teresa-Rodrigo, M. E., Gil-Rodriguez, M. C., Lopez-Vinas, E., Gomez-Puertas, P., Casals, N., Casale, C. H., Hegardt, F. G., Pie, J.

Journal:

The Journal of Lipid Research

Year:

2012

Language:

english

File:

PDF, 1.37 MB

english, 2012

23

Special cases in Cornelia de Lange syndrome: The Spanish experience

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

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2016

Language:

english

File:

PDF, 384 KB

english, 2016

24

Two-step ATP-driven opening of cohesin head

Marcos-Alcalde, Íñigo, Mendieta-Moreno, Jesús I., Puisac, Beatriz, Gil-Rodríguez, María Concepción, Hernández-Marcos, María, Soler-Polo, Diego, Ramos, Feliciano J., Ortega, José, Pié, Juan, Mendieta,

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 4.60 MB

english, 2017

25

Síndrome de Cornelia de Lange: incidencia de cardiopatía congénita en 149 pacientes

Ayerza Casas, Ariadna, Puisac Uriol, Beatriz, Teresa Rodrigo, María Esperanza, Hernández Marcos, María, Ramos Fuentes, Feliciano J., Pie Juste, Juan

Journal:

Medicina Clínica

Year:

2017

File:

PDF, 330 KB

2017

26

Cornelia de Lange syndrome: Congenital heart disease in 149 patients

Ayerza Casas, Ariadna, Puisac Uriol, Beatriz, Teresa Rodrigo, María Esperanza, Hernández Marcos, María, Ramos Fuentes, Feliciano J., Pie Juste, Juan

Journal:

Medicina Clínica (English Edition)

Year:

2017

File:

PDF, 326 KB

2017

27

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

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

Journal:

BioMed Research International

Year:

2016

Language:

english

File:

PDF, 2.58 MB

english, 2016

28

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

Journal:

International Journal of Molecular Sciences

Year:

2017

Language:

english

File:

PDF, 3.06 MB

english, 2017

29

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

Puisac, Beatriz, Marcos-Alcalde, Iñigo, Hernández-Marcos, María, Tobajas Morlana, Pilar, Levtova, Alina, Schwahn, Bernd, DeLaet, Corinne, Lace, Baiba, Gómez-Puertas, Paulino, Pié, Juan

Journal:

International Journal of Molecular Sciences

Year:

2018

Language:

english

File:

PDF, 1.70 MB

english, 2018

30

More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones

Arnedo,, Latorre-Pellicer,, Lucia-Campos,, Gil-Salvador,, Antoñanzas-Peréz,, Gómez-Puertas,, Bueno-Lozano,, Puisac,, Pié,

Journal:

International Journal of Molecular Sciences

Year:

2019

File:

PDF, 1.41 MB

2019

31

Cornelia de Lange syndrome: Ventricular size and function in six children without congenital heart defects

Ayerza-Casas, Ariadna, Puisac-Uriol, Beatriz, Pie-Juste, Juan

Journal:

Medicina Clínica (English Edition)

Year:

2019

File:

PDF, 258 KB

2019

32

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice

Bagheri-Fam, Stefan, Chen, Huijun, Wilson, Sean, Ayers, Katie, Hughes, James, Sloan-Bena, Frederique, Calvel, Pierre, Robevska, Gorjana, Puisac, Beatriz, Kusz-Zamelczyk, Kamila, Gimelli, Stefania, Spi

Journal:

Year:

2020

Language:

english

File:

PDF, 4.90 MB

english, 2020

33

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome

Cucco, Francesco, Sarogni, Patrizia, Rossato, Sara, Alpa, Mirella, Patimo, Alessandra, Latorre, Ana, Magnani, Cinzia, Puisac, Beatriz, Ramos, Feliciano J., PiÃ©, Juan, Musio, Antonio

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.04 MB

2020

34

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., DupÃ©, Valerie, Eckhold, Juliane, Graf, Elisabeth, Puisac, Beatriz, Ramos,

Journal:

Year:

2020

File:

PDF, 4.48 MB

2020

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