Lista de obras - Eva Bermejo-sanchez - Dominio Público Uruguay

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

artículo científico publicado en 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

artículo científico publicado en 2008

Amelia: Analysis of its epidemiological and clinical characteristics

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2000

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

artículo científico publicado en 2019

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

artículo científico publicado en 1999

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

artículo científico publicado en 2008

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

artículo científico publicado el 1 de julio de 1992

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

artículo científico publicado en 2011

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

artículo científico publicado en 2000

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

artículo científico publicado en 2006

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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

Chromosome 4p16 and osteochondroplasias

artículo científico publicado en 1994

Clinical/epidemiological analysis of congenital anomalies associated with diaphragmatic hernia

artículo científico publicado en 1996

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

artículo científico publicado en 2011

Congenital Anomalies: Cluster Detection and Investigation

artículo científico publicado en 2017

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

artículo científico publicado en 1998

Correlation between drug exposure and major malformations

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 1998

Epidemiological analysis of rare polydactylies

artículo científico publicado en 1996

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

artículo científico publicado en 1997

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.

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 1994

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

artículo científico publicado en 2013

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

artículo científico publicado en 2001

Join World Birth Defects Day

artículo científico publicado en 2019

Limb deficiencies in infants with trisomy 13

artículo científico publicado en 2000

Low birth weight as an additional indication for chromosomal analysis

artículo científico publicado el 1 de junio de 1997

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

artículo científico publicado en 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?

artículo científico publicado en 2006

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

artículo científico publicado en 2016

New findings in craniofacial dyssynostosis

artículo científico publicado en 2005

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

artículo científico publicado en 2001

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

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

Preferential associations between oral clefts and other major congenital anomalies.

artículo científico publicado en 2008

Prenatal exposure to penicillamine and oral clefts: Case report

artículo científico publicado en 1998

Prenatal exposure to sex hormones: a case-control study

artículo científico publicado en 1998

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 1994

SpainUDP: The Spanish Undiagnosed Rare Diseases Program

article

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

artículo científico publicado en 2000

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

scientific article published on 18 September 2018

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

artículo científico publicado en 2007

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

scientific article published on 01 November 2001

Lista de obras de Eva Bermejo-sanchez

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

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

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

Amelia: Analysis of its epidemiological and clinical characteristics

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.

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

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

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

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

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

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

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

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

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

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

Chromosome 4p16 and osteochondroplasias

Clinical/epidemiological analysis of congenital anomalies associated with diaphragmatic hernia

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

Congenital Anomalies: Cluster Detection and Investigation

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

Correlation between drug exposure and major malformations

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

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

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

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

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

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

Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers

Epidemiological analysis of rare polydactylies

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

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

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.

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

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

Gastroschisis and associated defects: An international study

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

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

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

Holoprosencephaly associated with caudal dysgenesis: A clinical-epidemiological analysis

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

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

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

Join World Birth Defects Day

Limb deficiencies in infants with trisomy 13

Low birth weight as an additional indication for chromosomal analysis

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

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?

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

New findings in craniofacial dyssynostosis

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

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

Periconceptional Exposure to Contraceptive Pills and Risk for Down Syndrome

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

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

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

Preferential associations between oral clefts and other major congenital anomalies.

Prenatal exposure to penicillamine and oral clefts: Case report

Prenatal exposure to sex hormones: a case-control study

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

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

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

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

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

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

Short rib-polydactyly syndrome and pericentric inversion of chromosome 4

SpainUDP: The Spanish Undiagnosed Rare Diseases Program

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

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

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

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

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

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

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