Alejandro Brea-Fernandez

Alejandro Brea-Fernandez

UNVERIFIED PROFILE

Are you Alejandro Brea-Fernandez?   Register this Author

Register author
Alejandro Brea-Fernandez

Alejandro Brea-Fernandez

Publications by authors named "Alejandro Brea-Fernandez"

Are you Alejandro Brea-Fernandez?   Register this Author

13Publications

454Reads

6Profile Views

Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.

J Hum Genet 2019 Nov 3;64(11):1133-1136. Epub 2019 Sep 3.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Santiago de Compostela, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-019-0664-7DOI Listing
November 2019

Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.

Am J Med Genet A 2019 02 20;179(2):290-294. Epub 2018 Dec 20.

Grupo de Medicina Xenómica, Universidad de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.60689DOI Listing
February 2019

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

Eur J Hum Genet 2016 10 11;24(10):1501-5. Epub 2016 May 11.

Gastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2016.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027689PMC
October 2016

Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort.

PLoS One 2010 Sep 9;5(9). Epub 2010 Sep 9.

Galician Public Foundation of Genomic Medicine (FPGMX), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Genomics Medicine Group, Hospital Clínico, Santiago de Compostela, University of Santiago de Compostela, Galicia, Spain.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0012673PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936577PMC
September 2010

[Work responsibilities. Critical care unit].

Rev Enferm 2006 Nov;29(11):19-26

Unidad de Anestesia y Reanimación del Hospital Clínico Universitario de Santiago de Compostela.

View Article

Download full-text PDF

Source
November 2006