Maria Luisa Martínez-Fernández

Maria Luisa Martínez-Fernández

UNVERIFIED PROFILE

Are you Maria Luisa Martínez-Fernández?   Register this Author

Register author
Maria Luisa Martínez-Fernández

Maria Luisa Martínez-Fernández

Publications by authors named "Maria Luisa Martínez-Fernández"

Are you Maria Luisa Martínez-Fernández?   Register this Author

15Publications

344Reads

35Profile Views

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.

Am J Med Genet A 2015 Sep 21;167A(9):2034-41. Epub 2015 Apr 21.

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37117DOI Listing
September 2015

Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.

Am J Med Genet A 2014 Mar 19;164A(3):639-47. Epub 2013 Dec 19.

Departamento de Farmacología, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain; Spanish Collaborative Study of Congenital Malformations (ECEMC), CIAC (Research Center on Congenital Anomalies), Instituto de Salud Carlos III, Madrid, Spain; CIBER de Enfermedades Raras (CIBERER) (U724), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36330DOI Listing
March 2014

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.

Am J Med Genet A 2014 Feb 5;164A(2):338-45. Epub 2013 Dec 5.

CIBER de Enfermedades Raras (CIBERER) (U724), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Madrid, Spain; Spanish Collaborative Study of Congenital Malformations (ECEMC), CIAC (Research Center on Congenital Anomalies), Instituto de Salud Carlos III, Madrid, Spain.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36224
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36224DOI Listing
February 2014

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

Am J Med Genet A 2013 Sep 25;161A(9):2281-90. Epub 2013 Jul 25.

Neurología Neonatal, Servicio de Pediatría, Complejo Hospitalario Universitario de Albacete, Albacete, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35862DOI Listing
September 2013

[Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population].

Med Clin (Barc) 2008 Jun;131(3):81-8

Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Ministerio de Sanidad y Consumo, Madrid, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1157/13124010DOI Listing
June 2008

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man.

Mol Cytogenet 2008 Apr 2;1. Epub 2008 Apr 2.

Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC) del Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1755-8166-1-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375880PMC
April 2008

Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects.

Clin Dysmorphol 2008 Jan;17(1):5-12

Spanish Collaborative Study of Congenital Malformations (ECEMC), Research Center of Congenital Anomalies (CIAC), Carlos III Health Institute, Ministry of Health and Consumer Affairs, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e3282efef43DOI Listing
January 2008

The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

Am J Med Genet A 2005 Jul;136(2):175-8

Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC) del Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30775DOI Listing
July 2005