Page 193 - MemoriaER-Eng

www.ciberer.es

• Could a patient with SMC1A duplication be classified as a human cohesinopathy?

baquero-Montoya c, Gil-rodríGuez Mc, teresa-rodriGo Me, hernández-Marcos M, bueno-
l G, b-M i, r s, F-h r, b-s M,
ozanouenoartínezeMeseiroernándezernándezassecourterra
rodríGuez de alba M, queralt e, losada a, Puisac b, raMos FJ, Pié J. Clin Genet. 2014
May;85(5):446-51. doi: 10.1111/cge.12194. Epub 2013 Jun 17. PMID: 23683030

[PubMed - in process].

• Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome

in the same individual. Wierzba J, Gil-rodríGuez Mc, Polucha a, Puisac b, arnedo M,
teresa-rodriGo Me, Winnicka d, heGardt FG, raMos FJ, liMon J, Pié J. BMC Med Genet.

2012 Jun 7;13:43. PMID: 22676896 [PubMed - indexed for MEDLINE].

• Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a
cohort of 30 unrelated patients with Cornelia de Lange syndrome. P J, G-r
iéilodríGuez
Mc, ciero M, lóPez-Viñas e, ribate MP, arnedo M, deardorFF Ma, Puisac b, leGarreta
J, k Jc, r e, b i, b a, c Mt, c n, o Jl, l-
de araMubiouenoaldelloualVoasalsliVaresosa
da a, heGardt FG, krantz id, GóMez-Puertas P, raMos FJ. Am J Med Genet A. 2010
Apr;152A(4):924-9. doi: 10.1002/ajmg.a.33348. PMID: 20358602 [PubMed - in-

dexed for MEDLINE].

PROJECTS:
Highlights
Project FIS “Cornelia de Lange Spectrum: New genes, new phenotypes and the-

rapeutic approach.” Type Ref: PS12 / 01318. Funding Agency: Ministry of Health
and Social Policy. FIS. Duration: 2013-2015. Lead Researcher: Feliciano J. Ra-

mos-Fuentes. 1st year: 2 publications in progress.

PUBLICATIONS:

Three (3) papers were finished and finally published in 2014 (see above).

CLINICAL GUIDES:

The “Clinical Utility Gene Card of Cornelia de Lange Syndrome” is expected to be
published in 2014 in the European Journal of Human Genetics.

CONGRESSES: Conferences by invitation and papers were presented on 3 Con-

ferences:

• ESHG Conference (Paris, June 2013).

• VIII Spainish Congress of Cornelia de Lange Syndrome (Barcelona, Spain

October 2013).

• 7th Cornelia de Lange Syndrome World Conference (Buenos Aires, November
2013).

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