E. Rodríguez‐Pinilla

发表

Anal atresia, vertebral, genital, and urinary tract anomalies: a primary polytopic developmental field defect identified through an epidemiological analysis of associations.

E. Bermejo, M. Martinez-frias, E. Rodríguez-Pinilla, 2000, American journal of medical genetics.

Pregnancy outcome after prenatal quinolone exposure. Evaluation of a case registry of the European Network of Teratology Information Services (ENTIS).

A. Ornoy, P. Merlob, C. Schaefer, 1996, European journal of obstetrics, gynecology, and reproductive biology.

The outcome of pregnancy in 689 women exposed to therapeutic doses of antidepressants. A collaborative study of the European Network of Teratology Information Services (ENTIS).

P. Mastroiacovo, P. Mcelhatton, P. Merlob, 1996, Reproductive toxicology.

Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect.

E. Bermejo, M. Martinez-frias, J. Frías, 2001, American journal of medical genetics.

High vitamin A intake in early pregnancy and major malformations: a multicenter prospective controlled study.

M. Clementi, P. Mastroiacovo, P. Carlier, 1999, Teratology.

Methimazole in animal feed and congenital aplasia cutis

M. Urioste, A. Cereijo, M. Martínez‐Frías, 1992, The Lancet.

Problem of using cases with genetic anomalies as a reference group in case-control studies on drug use and birth defects.

M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2008, Birth defects research. Part A, Clinical and molecular teratology.

Pre‐gestational maternal body mass index predicts an increased risk of congenital malformations in infants of mothers with gestational diabetes

E. Bermejo, J. Frías, L. Prieto, 2005, Diabetic medicine : a journal of the British Diabetic Association.

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

E. Bermejo, J. Frías, M. Martínez‐Frías, 2004, Birth defects research. Part A, Clinical and molecular teratology.

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

E. Bermejo, L. Prieto, L. Cuevas, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers.

E. Bermejo, M. Martinez-frias, J. Frías, 1998, American journal of medical genetics.

Increased parental age and number of pregnancies in Klippel–Trenaunay–Weber syndrome

L. Prieto, I. Lorda‐Sánchez, M. Martínez‐Frías, 1998, Annals of human genetics.

Congenital Anomalies in the Offspring of Mothers With a Bicornuate Uterus

E. Bermejo, J. Frías, M. Martínez‐Frías, 1998, Pediatrics.

Epidemiological analysis of the schisis association in the Spanish registry of congenital malformations.

M. Urioste, E. Bermejo, J. Frías, 1997, American journal of medical genetics.

Epidemiological analysis of multi-site closure failure of neural tube in humans.

M. Urioste, E. Bermejo, M. Martinez-frias, 1996, American journal of medical genetics.

Video display terminals: risk of trisomy 18?

M. Martínez‐Frías, E. Rodríguez‐Pinilla, 1995, Clinical Genetics.

Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry).

M. Urioste, E. Bermejo, L. Paisán, 1995, American journal of medical genetics.

Value of clinical analysis in epidemiological research: the Spanish registry experience.

M. Urioste, E. Bermejo, M. Martinez-frias, 1991, American journal of medical genetics.

Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: comparative epidemiology.

E. Bermejo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2000, American journal of medical genetics.

Prevalence of dominant mutations in Spain: effect of changes in maternal age distribution.

J. Cordero, M. Ramos-Arroyo, L. Prieto, 1988, American journal of medical genetics.

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

E. Bermejo, María Luisa Martínez-Frías, Eva Bermejo, 2008, American journal of medical genetics. Part A.

Epidemiological and clinical analysis of a consecutive series of conjoined twins in Spain.

E. Bermejo, María Luisa Martínez-Frías, Eva Bermejo, 2009, Journal of pediatric surgery.

[Characteristics of neonates with and without a single umbilical artery. Analysis of two consecutive series of neonates with and without congenital defects].

D. Prieto-Merino, E. Bermejo-Sánchez, M. Martínez‐Frías, 2006, Anales de pediatria.

Genotype-phenotype correlations in a Spanish cohort of 506 families with bi-allelic ABCA4 pathogenic variants.

C. Rivolta, M. Cortón, I. Mahíllo-Fernández, 2020, American journal of ophthalmology.

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

C. Ayuso, A. Avila-Fernandez, B. Almoguera, 2021, npj Genomic Medicine.

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2019, Ophthalmology.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Maternal and Fetal Factors Related to Abnormal Amniotic Fluid

E. Bermejo, M. Martinez-frias, J. Frías, 1999, Journal of Perinatology.

Case-control study on occupational exposure to anesthetic gases during pregnancy

E. Bermejo, L. Prieto, M. Martínez‐Frías, 1998 .

Maternal polymorphisms 677C‐T and 1298A‐C of MTHFR, and 66A‐G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

E. Bermejo, M. Ugarte, E. Mansilla, 2006, American journal of medical genetics. Part A.

Prenatal exposure to sex hormones: a case-control study.

E. Bermejo, M. Martinez-frias, E. Rodríguez-Pinilla, 1998, Teratology.

Prenatal exposure to salicylates and gastroschisis: a case-control study.

M. Martinez-frias, E. Rodríguez-Pinilla, L. Prieto, 1997, Teratology.

Maternal exposure to mycophenolate mofetil in pregnancy—Results of the ENTIS collaborative study

A. Ornoy, P. Merlob, É. Élefant, 2010 .

The safety of calcium channel blockers during pregnancy: a prospective, multicenter, observational study.

Reinhard Meister, Thierry Vial, Christof Schaefer, 2008, Reproductive toxicology.

Vitamin K antagonists and pregnancy outcome

M. Clementi, M. De Santis, P. Merlob, 2006, Thrombosis and Haemostasis.

Problems of using data from Teratology Information Services (TIS) to identify putative teratogens.

M. Martinez-frias, E. Rodríguez-Pinilla, M. Martínez‐Frías, 1999, Teratology.

Anorectal and esophageal anomalies in down syndrome

M. Urioste, A. Cereijo, M. Martínez‐Frías, 1992 .

High maternal fever during gestation and severe congenital limb disruptions.

E. Bermejo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2001, American journal of medical genetics.

Smoking during pregnancy and Poland sequence: results of a population-based registry and a case-control registry.

E. Bermejo, A. Czeizel, M. Martínez‐Frías, 1999, Teratology.

Evolución secular y por autonomías de la frecuencia de tratamientos de fertilidad, partos múltiples y cesáreas en España

E. Bermejo, M. Martinez-frias, E. Rodríguez-Pinilla, 2005 .

Periconceptional Exposure to Contraceptive Pills and Risk for Down Syndrome

E. Bermejo, L. Prieto, M. Martínez‐Frías, 2001, Journal of Perinatology.

Prenatal exposure to valproic acid during pregnancy and limb deficiencies: a case-control study.

I. Arroyo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2000, American journal of medical genetics.

Maternal diabetes: The risk for specific birth defects

J. Cordero, M. Ramos-Arroyo, E. Rodríguez‐Pinilla, 1992, European Journal of Epidemiology.

Corticosteroids during pregnancy and oral clefts: a case-control study.

M. Martinez-frias, E. Rodríguez-Pinilla, M. Martínez‐Frías, 1998, Teratology.

Incidence of Smith‐Lemli‐Opitz syndrome in Ontario, Canada

E. Bermejo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2003, American journal of medical genetics. Part A.

Risk of Hypospadias in Newborn Infants Exposed to Valproic Acid During the First Trimester of Pregnancy

David Prieto-Merino, D. Prieto-Merino, Elvira Rodríguez-Pinilla, 2008, Drug safety.

VALPROATE AND SPINA BIFIDA

P. Oakeshott, G. Hunt, J. Salvador, 1989, The Lancet.

Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome.

E. Bermejo, L. Prieto, M. Martínez‐Frías, 2002, American journal of medical genetics.

Response to Dr. Narchi's comments on “epidemiological evidence that maternal diabetes does not appear to increase the risk for down syndrome”

E. Bermejo, L. Prieto, M. Martínez‐Frías, 2003 .

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

C. Ayuso, A. Avila-Fernandez, B. Almoguera, 2021, Scientific Reports.

[The Adams-Oliver syndrome in Spain: the epidemiological aspects].

M. Martinez-frias, E. Rodríguez-Pinilla, F. Omeñaca Teres, 1996, Anales espanoles de pediatria.

Folic acid supplementation and neural tube defects

M. Martínez‐Frías, E. Rodríguez‐Pinilla, 1992, The Lancet.

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

E. Bermejo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2005, Medicina clinica.

Prenatal exposure to penicillamine and oral clefts: case report.

E. Bermejo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 1998, American journal of medical genetics.

Epidemiologic analysis of prenatal exposure to cough medicines containing dextromethorphan: no evidence of human teratogenicity.

M. Martinez-frias, E. Rodríguez-Pinilla, M. Martínez‐Frías, 2001, Teratology.