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List of works by Eva Bermejo-sanchez

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

scientific article published on 25 July 2013

A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies

article

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

scientific article

Amelia: Analysis of its epidemiological and clinical characteristics

scientific article published on 01 December 1997

Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

scientific article published on 14 October 2011

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

scientific article published in November 2000

Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry-Based Study, 2001-2012

scientific article published on 21 October 2019

Analysis of deformations in 26,810 consecutive infants with congenital defects

scientific article

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

scientific article published in June 2008

Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity?

scientific article published on July 1, 1992

Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature.

scientific article published on 14 October 2011

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

scientific article published in May 2000

Características de los neonatos con y sin arteria umbilical única. Análisis de dos series consecutivas de recién nacidos con y sin defectos congénitos

scientific article published on 01 December 2006

Changes in Alcohol Intake During Pregnancy in Spain, 1980 to 2014

scientific article published on 16 October 2019

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

scientific article

Chromosome 4p16 and osteochondroplasias

scientific article published on 01 April 1994

Clinical/epidemiological analysis of congenital anomalies associated with diaphragmatic hernia

scientific article

Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research.

scientific article published on 14 October 2011

Congenital Anomalies: Cluster Detection and Investigation

scientific article published in January 2017

Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

scientific article published in February 1998

Correlation between drug exposure and major malformations

scientific article published on 01 May 1997

Craniofacial dyssynostosis: description of the first four Spanish cases and review

article

Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

scientific article published on 17 October 2011

Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome

scientific article published on 21 April 2015

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

article

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

scientific article published on 01 January 2008

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

scientific article published in February 2007

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

scientific article published on 01 December 1996

Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers

scientific article published in June 1998

Epidemiological analysis of rare polydactylies

scientific article published in November 1996

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

scientific article published in May 1997

Epidemiological aspects of children of women with bicornuate uterus

scientific article published on February 1, 1998

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

article

European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans

scientific article published on 3 April 2014

Evolution of the frequency of congenital defects in newborn infants and fetuses from terminations of pregnancy after prenatal diagnosis in the period 1982-2009

scientific article published on 28 July 2012

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

scientific article published in April 2001

Gastroschisis and associated defects: An international study

article

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

scientific article published on 01 September 2005

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

scientific article

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

scientific article published on 06 November 2019

Holoprosencephaly associated with caudal dysgenesis: A clinical-epidemiological analysis

scientific article published on 01 October 1994

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

scientific article

Isolated small intestinal atresias in Latin America and Spain: Epidemiological analysis

article

It is necessary to perform high-resolution band chromosomes in any child with malformations, before making a diagnosis or establishing a possible relationship with any risk factor

scientific article published on 01 June 2001

Jarcho-Levin and Casamassima syndromes: differential diagnosis and frequency in Spain

scientific article published on May 1, 1998

Join World Birth Defects Day

scientific article published on 09 April 2019

Limb deficiencies in infants with trisomy 13

scientific article published on 01 August 2000

Low birth weight as an additional indication for chromosomal analysis

scientific article published on 01 June 1997

MTHFR677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women

scientific article published on 01 May 2005

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?

scientific article

Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns.

scientific article published on 25 November 2016

New findings in craniofacial dyssynostosis

scientific article published on 01 April 2005

On the symmetry of limb deficiencies among children with multiple congenital anomalies

scientific article published in January 2001

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

scientific article published on 04 December 2013

Periconceptional Exposure to Contraceptive Pills and Risk for Down Syndrome

scientific article published on 01 July 2001

Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

scientific article published on 14 October 2011

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

scientific article

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

scientific article

Preferential associations between oral clefts and other major congenital anomalies.

scientific article published in September 2008

Prenatal exposure to penicillamine and oral clefts: Case report

scientific article published on 01 March 1998

Prenatal exposure to sex hormones: a case-control study

scientific article published in January 1998

Primary prevention as an essential factor ensuring sustainability of health systems: the example of congenital anomalies

scientific article published on 01 July 2019

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

scientific article

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

scientific article published in January 2010

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

article

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

scientific article published in June 2005

Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: Two additional cases that expand the phenotype to a more generalized effect on blastogenesis ⬇️

scientific article published on December 12, 1997

Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish registry

article

Short rib-polydactyly syndrome and pericentric inversion of chromosome 4

scientific article published on 01 January 1994

SpainUDP: The Spanish Undiagnosed Rare Diseases Program

article

Spina bifida and parental occupation: results from three malformation monitoring programs in Europe

scientific article published in April 2000

Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis

scientific article published on 01 January 2011

The incidence of gastroschisis: is also increasing in Spain, particularly among babies of young mothers.

scientific article published on February 2006

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

scientific article published in January 2005

Value of sharing and networking among birth defects surveillance programs: an ICBDSR perspective

scientific article published on 18 September 2018

‘The VACTERL association: lessons from the Sonic hedgehog pathway’

scientific article published on 01 November 2001

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