Publications by authors named "Maria Luisa Martínez-Frías"

75Publications

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

Patient with disorganization syndrome: surgical procedures, pathology, and potential causes.

Birth Defects Res A Clin Mol Teratol 2013 Dec 4;97(12):781-5. Epub 2013 Dec 4.

Servicio de Cirugía Pediátrica, Hospital Universitario Virgen de la Arrixaca, Región de Murcia, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.23203DOI Listing
December 2013

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

Assessing pre-implantation embryo development in mice provides a rationale for understanding potential adverse effects of ART and PGD procedures.

Am J Med Genet A 2012 Oct 17;158A(10):2526-33. Epub 2012 Aug 17.

Facultad de Medicine, Departmento de Farmacología, Universidad Complutense de Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35573DOI Listing
October 2012

[The thalidomide experience: review of its effects 50 years later].

Med Clin (Barc) 2012 Jun 15;139(1):25-32. Epub 2011 Dec 15.

Departamento de Farmacología, Facultad de Medicina, Universidad Complutense de Madrid. Madrid, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.medcli.2011.10.011DOI Listing
June 2012

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.

Dis Model Mech 2011 May 18;4(3):289-99. Epub 2011 Apr 18.

Instituto de Biomedicina y Biotecnología de Cantabria, Universidad de Cantabria-CSIC-SODERCAN, C. Herrera Oria s/n, 39011 Santander, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1242/dmm.007732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097451PMC
May 2011

Prevention, diagnosis and services.

Adv Exp Med Biol 2010 ;686:55-75

Rare Diseases Research Institute (IIER), Instituto de Salud Carlos III, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-90-481-9485-8_4DOI Listing
December 2010

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia.

Am J Med Genet A 2010 Jan;152A(1):245-55

ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Sinesio Delgado 6, 28029 Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33188DOI Listing
January 2010

Can our understanding of epigenetics assist with primary prevention of congenital defects?

J Med Genet 2010 Feb 15;47(2):73-80. Epub 2009 Sep 15.

1The Congenital Anomalies Research Centre (CIAC), Institute of Health Carlos III (ISCIII), Madrid 28029, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmg.2009.070466DOI Listing
February 2010

Epidemiology of acephalus/acardius monozygotic twins: new insights into an epigenetic causal hypothesis.

Am J Med Genet A 2009 Feb;149A(4):640-9

ECEMC, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32741DOI Listing
February 2009

[Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications].

Med Clin (Barc) 2008 Nov;131(19):741-6

ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0025-7753(08)75490-3DOI Listing
November 2008

[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

Genetic drift. The balance of nature: reflections on the physics and mathematics structure of the living world and the human genome.

Am J Med Genet A 2008 Jul;146A(14):1781-7

Research Centre on Congenital Anomalies (CIAC), Institute of Health Carlos III (ISCIII), Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32337DOI Listing
July 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

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus.

Am J Med Genet A 2007 Dec;143A(24):2904-9

Department of Pediatrics, University of South Florida, Tampa, Florida, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.32071
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.32071DOI Listing
December 2007

Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants.

Am J Med Genet A 2008 Jan;146A(1):15-25

ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), del Instituto de Salud Carlos III, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31911DOI Listing
January 2008

Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?

Am J Med Genet A 2008 Jan;146A(1):26-34

ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32050DOI Listing
January 2008

[Folic acid dose in the prevention of congenital defects].

Med Clin (Barc) 2007 Apr;128(16):609-16

Facultad de Medicina, Universidad Complutense de Madrid, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1157/13101744DOI Listing
April 2007

[Adverse effects of selective serotonin reuptake inhibitors use during the third trimester of pregnancy and prevention guidelines].

Med Clin (Barc) 2007 Apr;128(15):584-9

Sección de Teratología Clínica y Servicios de Información Telefónica sobre Teratógenos (SITTE y SITE), Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1157/13101615DOI Listing
April 2007

Postmarketing analysis of medicines: methodology and value of the spanish case-control study and surveillance system in preventing birth defects.

Drug Saf 2007 ;30(4):307-16

Spanish Collaborative Study of Congenital Malformations and the Research Center of Congenital Anomalies, Instituto de Salud Carlos III, Facultad de Medicina de la Universidad Complutense de Madrid, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2165/00002018-200730040-00003DOI Listing
September 2007

Pilot study of socioeconomic class, nutrition and birth defects in Spain.

Matern Child Health J 2007 Jul 21;11(4):403-5. Epub 2007 Feb 21.

Department of Epidemiology & Public Health, University of Miami Miller School of Medicine, Suite 200, Miami, FL 33136, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10995-007-0186-3DOI Listing
July 2007

[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin].

Med Clin (Barc) 2007 Feb;128(4):137-40

ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1157/13098019DOI Listing
February 2007

[Antenatal exposure to corticosteroids for fetal lung maturation and its repercussion on weight, length and head circumference in the newborn infant].

Med Clin (Barc) 2006 Sep;127(10):361-7

Centro de Investigación sobre Anomalías Congénitas (CIAC), Sección de Teratología Clínica y Servicio de Información sobre Teratógenos (SITTE), Instituto de Salud Carlos III, Madrid, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1157/13092436DOI Listing
September 2006

Folic acid: a public-health challenge.

Lancet 2006 Jun;367(9528):2057

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(06)68917-4DOI Listing
June 2006

[Men infertility and microdelections of Y chromosome].

Med Clin (Barc) 2005 Nov;125(19):736-9

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0025-7753(05)72173-4DOI Listing
November 2005

Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family.

Am J Med Genet A 2005 Sep;137A(3):288-91

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://doi.wiley.com/10.1002/ajmg.a.30875
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30875DOI Listing
September 2005

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

Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.

Am J Med Genet A 2005 Jun;135(2):211-3

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.30728DOI Listing
June 2005

[Secular evolution and evolution according to autonomous communities of the frequency of fertility treatments, multiple deliveries and cesarean sections in Spain].

Med Clin (Barc) 2005 Feb;124(4):132-9

Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1157/13071007DOI Listing
February 2005

[Tobacco smoking during pregnancy in Spain: an analysis according to years, autonomous communities and maternal characteristics].

Med Clin (Barc) 2005 Jan;124(3):86-92

ECEMC y 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/10.1157/13070863DOI Listing
January 2005

The real earliest historical evidence of Down syndrome.

Am J Med Genet A 2005 Jan;132A(2):231

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30455DOI Listing
January 2005

Risk for congenital anomalies associated with different sporadic and daily doses of alcohol consumption during pregnancy: a case-control study.

Birth Defects Res A Clin Mol Teratol 2004 Apr;70(4):194-200

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.20017DOI Listing
April 2004

[Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants].

Med Clin (Barc) 2004 Mar;122(10):361-4

ECEMC, CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0025-7753(04)74243-8DOI Listing
March 2004

A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?

Am J Med Genet A 2004 Mar;125A(3):306-9

Departamento de Pediatría y Unidad de Prevención de Minusvalías, Junta de Extremadura, Hospital Materno Infantil, Universidad de Extremadura, Badajoz, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20507DOI Listing
March 2004

Secular decreasing trend of the frequency of hypospadias among newborn male infants in Spain.

Birth Defects Res A Clin Mol Teratol 2004 Feb;70(2):75-81

Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/bdra.10149
Publisher Site
http://dx.doi.org/10.1002/bdra.10149DOI Listing
February 2004

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

Am J Med Genet A 2003 Oct;122A(2):119-24

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.20243DOI Listing
October 2003

Unusual congenital abdominal wall defect and review.

Am J Med Genet A 2003 Jun;119A(2):211-3

Neonatal Unit, San Pedro de Alcántara Hospital, Extremadura Health Service, Cáceres, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20112DOI Listing
June 2003

[Analysis of temporal evolution in alcohol consumption during pregnancy in the Spanish autonomic communities].

Med Clin (Barc) 2003 Apr;120(14):535-41

ECEMC. Centro de Investigación sobre Anomalías Congénitas (CIAC). Instituto de Salud Carlos III. Departamento de Farmacología. Facultad de Medicina. Universidad Complutense. Madrid. Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0025-7753(03)73766-xDOI Listing
April 2003

Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach.

J Pediatr 2002 Nov;141(5):611-7

Medical Genetics-Birth Defects Center, Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1067/mpd.2002.128891DOI Listing
November 2002

Pure partial trisomy 7q: two new patients and review.

Am J Med Genet 2002 Nov;113(2):218-24

Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Centro de Investigación sobre Anomalías Congéticas (CIAC), Instituto de Salud Carlos III, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10719DOI Listing
November 2002