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Items: 1 to 20 of 37

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.

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

Bagheri-Fam S, Chen H, Wilson S, Ayers K, Hughes J, Sloan-Bena F, Calvel P, Robevska G, Puisac B, Kusz-Zamelczyk K, Gimelli S, Spik A, Jaruzelska J, Warenik-Szymankiewicz A, Faradz S, Nef S, Pié J, Thomas P, Sinclair A, Wilhelm D.

PLoS One. 2020 Jan 7;15(1):e0227411. doi: 10.1371/journal.pone.0227411. eCollection 2020.

3.

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

Arnedo M, Latorre-Pellicer A, Lucia-Campos C, Gil-Salvador M, Antoñanzas-Peréz R, Gómez-Puertas P, Bueno-Lozano G, Puisac B, Pié J.

Int J Mol Sci. 2019 Dec 4;20(24). pii: E6124. doi: 10.3390/ijms20246124. Review.

4.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC.

Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Review.

PMID:
29995837
5.

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.

6.

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

Björkman A, Du L, van der Burg M, Cormier-Daire V, Borck G, Pié J, Anderlid BM, Hammarström L, Ström L, de Villartay JP, Kipling D, Dunn Walters D, Pan-Hammarström Q.

J Allergy Clin Immunol. 2018 Jan;141(1):408-411.e8. doi: 10.1016/j.jaci.2017.06.043. Epub 2017 Aug 5. No abstract available.

7.

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.

8.

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC.

Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26.

PMID:
28548707
9.

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 B, Teresa-Rodrigo ME, Hernández-Marcos M, Baquero-Montoya C, Gil-Rodríguez MC, Visnes T, Bot C, Gómez-Puertas P, Kaiser FJ, Ramos FJ, Ström L, Pié J.

Int J Mol Sci. 2017 Feb 23;18(3). pii: E481. doi: 10.3390/ijms18030481.

10.

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

Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ.

Hum Genet. 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y. Epub 2017 Jan 24.

PMID:
28120103
11.

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

Pié J, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Gil-Rodríguez M, Baquero-Montoya C, Ramos-Cáceres M, Bernal M, Ayerza-Casas A, Bueno I, Gómez-Puertas P, Ramos FJ.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):198-205. doi: 10.1002/ajmg.c.31501. Epub 2016 May 10. Review.

PMID:
27164022
12.

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

Teresa-Rodrigo ME, Eckhold J, Puisac B, Pozojevic J, Parenti I, Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Dalski A, Hernández-Marcos M, Ayerza A, Bernal ML, Ramos FJ, Wieczorek D, Gillessen-Kaesbach G, Pié J, Kaiser FJ.

Biomed Res Int. 2016;2016:8742939. doi: 10.1155/2016/8742939. Epub 2016 Jan 26.

13.

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.

14.

Effects of detyrosinated tubulin on Na+,K+-ATPase activity and erythrocyte function in hypertensive subjects.

Amaiden MR, Santander VS, Monesterolo NE, Nigra AD, Rivelli JF, Campetelli AN, Pie J, Casale CH.

FEBS Lett. 2015 Jan 30;589(3):364-73. doi: 10.1016/j.febslet.2014.12.022. Epub 2014 Dec 23.

15.

Clinical utility gene card for: Cornelia de Lange syndrome.

Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA, Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, FitzPatrick DR, Pié J.

Eur J Hum Genet. 2015 Oct;23(10). doi: 10.1038/ejhg.2014.270. Epub 2014 Dec 24. No abstract available.

16.

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.

Madrigal I, Alvarez-Mora MI, Karlberg O, Rodríguez-Revenga L, Elurbe DM, Rabionet R, Mur A, Pie J, Ballesta F, Sauer S, Syvänen AC, Milà M.

J Clin Pathol. 2014 Dec;67(12):1099-103. doi: 10.1136/jclinpath-2014-202537. Epub 2014 Sep 30.

PMID:
25271213
17.

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.

Teresa-Rodrigo ME, Eckhold J, Puisac B, Dalski A, Gil-Rodríguez MC, Braunholz D, Baquero C, Hernández-Marcos M, de Karam JC, Ciero M, Santos-Simarro F, Lapunzina P, Wierzba J, Casale CH, Ramos FJ, Gillessen-Kaesbach G, Kaiser FJ, Pié J.

Int J Mol Sci. 2014 Jun 10;15(6):10350-64. doi: 10.3390/ijms150610350.

18.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J.

Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27.

PMID:
24874887
19.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.

Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.

20.

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

Enervald E, Du L, Visnes T, Björkman A, Lindgren E, Wincent J, Borck G, Colleaux L, Cormier-Daire V, van Gent DC, Pie J, Puisac B, de Miranda NF, Kracker S, Hammarström L, de Villartay JP, Durandy A, Schoumans J, Ström L, Pan-Hammarström Q.

J Exp Med. 2013 Nov 18;210(12):2503-13. doi: 10.1084/jem.20130168. Epub 2013 Oct 21.

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