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Items: 10

1.

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Latorre-Pellicer A, Ascaso Á, Trujillano L, Gil-Salvador M, Arnedo M, Lucia-Campos C, Antoñanzas-Pérez R, Marcos-Alcalde I, Parenti I, Bueno-Lozano G, Musio A, Puisac B, Kaiser FJ, Ramos FJ, Gómez-Puertas P, Pié J.

Int J Mol Sci. 2020 Feb 4;21(3). pii: E1042. doi: 10.3390/ijms21031042.

2.

MEPSAnd: minimum energy path surface analysis over n-dimensional surfaces.

Marcos-Alcalde I, López-Viñas E, Gómez-Puertas P.

Bioinformatics. 2020 Feb 1;36(3):956-958. doi: 10.1093/bioinformatics/btz649.

PMID:
31418769
3.

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Gudmundsson S, Annerén G, Marcos-Alcalde Í, Wilbe M, Melin M, Gómez-Puertas P, Bondeson ML.

Eur J Med Genet. 2019 Jun;62(6):103526. doi: 10.1016/j.ejmg.2018.08.007. Epub 2018 Aug 17. Review.

PMID:
30125677
4.

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

Puisac B, Marcos-Alcalde I, Hernández-Marcos M, Tobajas Morlana P, Levtova A, Schwahn BC, DeLaet C, Lace B, Gómez-Puertas P, Pié J.

Int J Mol Sci. 2018 Mar 28;19(4). pii: E1010. doi: 10.3390/ijms19041010.

5.

Two-step ATP-driven opening of cohesin head.

Marcos-Alcalde Í, Mendieta-Moreno JI, Puisac B, Gil-Rodríguez MC, Hernández-Marcos M, Soler-Polo D, Ramos FJ, Ortega J, Pié J, Mendieta J, Gómez-Puertas P.

Sci Rep. 2017 Jun 12;7(1):3266. doi: 10.1038/s41598-017-03118-9.

6.

A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases.

Buey RM, Fernández-Justel D, Marcos-Alcalde Í, Winter G, Gómez-Puertas P, de Pereda JM, Luis Revuelta J.

Sci Rep. 2017 Jun 1;7(1):2648. doi: 10.1038/s41598-017-02805-x.

7.

A Practical Quantum Mechanics Molecular Mechanics Method for the Dynamical Study of Reactions in Biomolecules.

Mendieta-Moreno JI, Marcos-Alcalde I, Trabada DG, Gómez-Puertas P, Ortega J, Mendieta J.

Adv Protein Chem Struct Biol. 2015;100:67-88. doi: 10.1016/bs.apcsb.2015.06.003. Epub 2015 Jul 15. Review.

8.

MEPSA: minimum energy pathway analysis for energy landscapes.

Marcos-Alcalde I, Setoain J, Mendieta-Moreno JI, Mendieta J, Gómez-Puertas P.

Bioinformatics. 2015 Dec 1;31(23):3853-5. doi: 10.1093/bioinformatics/btv453. Epub 2015 Jul 31.

9.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J.

Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17.

10.

Simulation of catalytic water activation in mitochondrial F1-ATPase using a hybrid quantum mechanics/molecular mechanics approach: an alternative role for β-Glu 188.

Martín-García F, Mendieta-Moreno JI, Marcos-Alcalde I, Gómez-Puertas P, Mendieta J.

Biochemistry. 2013 Feb 5;52(5):959-66. doi: 10.1021/bi301109x. Epub 2013 Jan 25.

PMID:
23320924

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