Lista de obras - Ida Vogel - Dominio Público Uruguay

"It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result

artículo científico publicado en 2020

"This is the child we were given": A qualitative study of Danish parents' experiences of a prenatal Down syndrome diagnosis and their decision to continue the pregnancy

artículo científico publicado en 2019

22q11 deletion syndrome

artículo científico publicado en 2010

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

artículo científico publicado en 2010

A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability.

artículo científico publicado en 2013

Acquisition and elimination of bacterial vaginosis during pregnancy: a Danish population-based study.

artículo científico publicado en 2006

Albumin in vaginal fluid is a marker of infection in early pregnancy

artículo científico publicado en 2003

Algorithm for sorting chromosomal aberrations

artículo científico publicado en 2017

Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis

scientific article published on 02 August 2013

Association between raised serum relaxin levels during the eighteenth gestational week and very preterm delivery

scientific article published on 01 February 2001

Bacterial vaginosis in early pregnancy is associated with low birth weight and small for gestational age, but not with spontaneous preterm birth: a population-based study on Danish women

artículo científico publicado en 2006

Biomarkers for the prediction of preterm delivery.

artículo científico publicado en 2005

Biphasic effect of relaxin, inhibitable by a collagenase inhibitor, on the strength of human fetal membranes.

artículo científico publicado en 2004

Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism

artículo científico publicado en 2018

Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

scientific article published on 09 August 2020

Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report

artículo científico publicado en 2016

Chlamydia trachomatis C-complex serovars are a risk factor for preterm birth

artículo científico publicado en 2007

Chromosomal microarray as a primary diagnostic genomic tool for pregnancies defined as being at increased risk within a population based combined first-trimester screening program

artículo científico publicado en 2017

Chromosomal microarray in fetuses with increased nuchal translucency

artículo científico publicado en 2015

Circulating relaxin and cervical length in midpregnancy are independently associated with spontaneous preterm birth

scientific article published on 30 May 2009

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

artículo científico publicado en 2017

Cytokines and the Risk of Preterm Delivery in Twin Pregnancies

scientific article published on 01 July 2012

Danish Sonographers' Experiences of the Introduction of "Moderate Risk" in Prenatal Screening for Down Syndrome

artículo científico publicado en 2018

Denmark's exemplary gender balance trips up in science

scientific article published on 01 August 2019

Diagnostic performance of quantitative fluorescence PCR analysis in high-risk pregnancies after combined first-trimester screening.

artículo científico publicado en 2014

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

artículo científico publicado en 2016

Does Maternal Body Mass Index Affect the Quantity of Circulating Fetal Cells Available to Use for Cell-Based Noninvasive Prenatal Test in High-Risk Pregnancies?

scientific article published on 10 September 2018

Early mid-trimester serum relaxin, soluble CD163, and cervical length in women at high risk for preterm delivery

artículo científico publicado en 2006

Early second-trimester inflammatory markers and short cervical length and the risk of recurrent preterm birth

artículo científico publicado en 2007

Eating behavior, prenatal and postnatal growth in Angelman syndrome

artículo científico publicado en 2014

Effect of octreotide, captopril or insulin on renal changes and UAE in long-term experimental diabetes

artículo científico publicado en 1998

Effects of blood sample handling procedures on measurable inflammatory markers in plasma, serum and dried blood spot samples

artículo científico publicado en 2008

Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations

artículo científico publicado en 2016

Ethnic differences in key candidate genes for spontaneous preterm birth: TNF-alpha and its receptors

artículo científico publicado en 2006

Existing data sources for clinical epidemiology: Danish registries for studies of medical genetic diseases

artículo científico publicado en 2013

Experiences and expectations in the first trimester of pregnancy: a qualitative study

artículo científico publicado en 2017

Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations

artículo científico publicado en 2020

Fetal cells in maternal blood for prenatal diagnosis: a love story rekindled

artículo científico publicado en 2017

First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

artículo científico publicado en 2017

First trimester biomarkers for prediction of gestational diabetes mellitus

scientific article published on 06 September 2020

First trimester screening for other trisomies than trisomy 21, 18, and 13

artículo científico publicado en 2015

First-trimester maternal plasma cytokine levels, pre-pregnancy body mass index, and spontaneous preterm delivery

artículo científico publicado en 2009

First-trimester screening for trisomy 21 in Denmark: implications for detection and birth rates of trisomy 18 and trisomy 13.

artículo científico publicado en 2011

Genome sequencing--clinical use

artículo científico publicado en 2013

Goblet cell carcinoid in a patient with neurofibromatosis type 1: a rare combination.

artículo científico publicado en 2012

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

artículo científico publicado en 2019

How do geneticists and prospective parents interpret and negotiate an uncertain prenatal genetic result? An analysis of clinical interactions

artículo científico publicado en 2020

Identification of biological/biochemical marker(s) for preterm delivery.

artículo científico publicado en 2001

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype

artículo científico publicado en 2011

Increased bioavailability of TNF-alpha in African Americans during in vitro infection: predisposing evidence for immune imbalance

artículo científico publicado en 2007

Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome

artículo científico publicado en 2017

Inhibitory effects of octreotide on renal and glomerular growth in early experimental diabetes in mice

artículo científico publicado en 2002

Insulin-like growth factor binding protein 1 (IGFBP-1) in vaginal fluid in pregnancy.

artículo científico publicado en 2004

Interleukin-18 and interleukin-12 in maternal serum and spontaneous preterm delivery.

artículo científico publicado en 2007

Is MED13L-related intellectual disability a recognizable syndrome?

artículo científico publicado en 2018

Is carriership of a balanced translocation or inversion an indication for non-invasive prenatal testing?

artículo científico publicado en 2018

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

artículo científico publicado en 2018

Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship

artículo científico publicado en 2017

Low serum interleukin-17 is associated with preterm delivery

artículo científico publicado en 2010

Maternal plasma cytokines in early- and mid-gestation of normal human pregnancy and their association with maternal factors

artículo científico publicado en 2007

Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome

artículo científico publicado en 2016

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum

artículo científico publicado en 2017

Mid-pregnancy maternal plasma levels of interleukin 2, 6, and 12, tumor necrosis factor-alpha, interferon-gamma, and granulocyte-macrophage colony-stimulating factor and spontaneous preterm delivery

artículo científico publicado en 2007

Multilocus interactions at maternal tumor necrosis factor-alpha, tumor necrosis factor receptors, interleukin-6 and interleukin-6 receptor genes predict spontaneous preterm labor in European-American women

scientific article published on 01 June 2006

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

artículo científico publicado en 2016

National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in the period 1973-2016 in Denmark.

artículo científico publicado en 2017

Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations

artículo científico publicado en 2014

New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report

artículo científico publicado en 2020

No effects of human relaxin on the active and passive biomechanical properties of isolated cervical specimens from nonpregnant women

artículo científico publicado en 1997

Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy

artículo científico publicado en 2016

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome

artículo científico publicado en 2017

Novel variant causes a severe form of metatropic dysplasia

artículo científico publicado en 2018

Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort.

artículo científico publicado en 2015

On the road to replacing invasive testing with cell-based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism.

artículo científico publicado en 2017

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

artículo científico publicado en 2017

PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencing

artículo científico publicado en 2014

Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p.

artículo científico publicado en 2009

Parental response to severe or lethal prenatal diagnosis: a systematic review of qualitative studies.

artículo científico

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

artículo científico publicado en 2012

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

artículo científico publicado en 2019

Placental mosaicism in the era of chromosomal microarrays

artículo científico publicado en 2019

Polymorphisms in the promoter region of relaxin-2 and preterm birth: involvement of relaxin in the etiology of preterm birth

Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities: Improving Efficacy using the Combined First Trimester Screening Algorithm as well as Individual Risk Parameters

artículo científico publicado en 2018

Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening

scientific article published on 25 February 2014

Prediction of preterm delivery using changes in serum relaxin in low risk pregnancies

artículo científico publicado en 2005

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

artículo científico publicado en 2015

Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings

artículo científico publicado en 2013

Prenatal screening for atypical chromosomal abnormalities: past or future?

artículo científico publicado en 2018

Preterm delivery in primiparous women at low risk: Preterm birth or delivery? Study authors suggest new terms

artículo científico publicado en 2006

Preterm delivery predicted by soluble CD163 and CRP in women with symptoms of preterm delivery

artículo científico publicado en 2005

Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism

scientific article published on 26 November 2019

Prevention of preterm delivery in twin gestations (PREDICT): a multicenter, randomized, placebo-controlled trial on the effect of vaginal micronized progesterone

artículo científico publicado en 2011

Racial disparity in amniotic fluid concentrations of tumor necrosis factor (TNF)-alpha and soluble TNF receptors in spontaneous preterm birth.

artículo científico publicado en 2008

Receiving a prenatal diagnosis of Down syndrome by phone: a qualitative study of the experiences of pregnant couples

artículo científico publicado en 2019

Reference population for international comparisons and time trend surveillance of preterm delivery proportions in three countries

artículo científico publicado en 2008

Relaxin (hRLX-2)-induced weakening of human fetal membranes in vitro

scientific article published on 01 November 1994

Risk factors for bacterial vaginosis in pregnancy: a population-based study on Danish women

artículo científico publicado en 2006

S-relaxin as a predictor of preterm delivery in women with symptoms of preterm labour

artículo científico publicado en 2002

Screening performance for trisomy 21 comparing first trimester combined screening and a first trimester contingent screening protocol including ductus venosus and tricuspid flow

artículo científico publicado en 2012

Second-trimester fetal head circumference in more than 350 000 pregnancies: Outcome and suggestion for sex-dependent cutoffs for small heads

scientific article published on 25 July 2019

Serum 17 beta-estradiol in newborn and neonatal hip instability.

artículo científico publicado en 2002

Serum relaxin in the newborn is not a marker of neonatal hip instability.

artículo científico publicado en 1998

Spontaneous preterm delivery in primiparous women at low risk in Denmark: population based study

artículo científico publicado en 2006

Termination of pregnancy following a prenatal diagnosis of Down syndrome: A qualitative study of the decision-making process of pregnant couples

artículo científico publicado en 2018

Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype

artículo científico publicado en 2008

The Number of Circulating Fetal Extravillous Trophoblasts Varies from Gestational Week 6 to 20

scientific article published on 29 June 2020

The development of hepatic stellate cells in normal and abnormal human fetuses - an immunohistochemical study

artículo científico publicado en 2015

The influence of amphotericin B and neomycin on the effect of human relaxin-2 on foetal membranes and isolated myometrium.

artículo científico publicado en 2004

The joint effect of vaginal Ureaplasma urealyticum and bacterial vaginosis on adverse pregnancy outcomes

artículo científico publicado en 2006

Towards a new era in fetal medicine in the Nordic countries

artículo científico publicado en 2016

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

artículo científico publicado en 2008

Ultrasound in Prenatal Diagnostics and Its Impact on the Epidemiology of Spina Bifida in a National Cohort from Denmark with a Comparison to Sweden

artículo científico publicado en 2018

Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.

artículo científico publicado en 2018

Vaginal micronized progesterone and risk of preterm delivery in high-risk twin pregnancies: secondary analysis of a placebo-controlled randomized trial and meta-analysis

artículo científico publicado en 2011

Variations in serum relaxin (hRLX-2) concentrations during human pregnancy

scientific article published on 01 April 1995

[Array-comparative genomic hybridization is a new and promising method for prenatal chromosomal diagnosis] ⬇️

artículo científico publicado en 2014

[Cervical length as a predictor of preterm delivery]

artículo científico publicado en 2003

[Hepatocellular adenoma - new classification and recommendations] ⬇️

[Medical genetics and the genome] ⬇️

article

[Phenotypic variability in a family with genetically verified familial hemiplegic migraine type 2] ⬇️

article by Nina Hogaard et al published 1 January 2015 in Ugeskrift for Læger

Lista de obras de Ida Vogel

"It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result

"This is the child we were given": A qualitative study of Danish parents' experiences of a prenatal Down syndrome diagnosis and their decision to continue the pregnancy

22q11 deletion syndrome

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability.

Acquisition and elimination of bacterial vaginosis during pregnancy: a Danish population-based study.

Albumin in vaginal fluid is a marker of infection in early pregnancy

Algorithm for sorting chromosomal aberrations

Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis

Association between raised serum relaxin levels during the eighteenth gestational week and very preterm delivery

Bacterial vaginosis in early pregnancy is associated with low birth weight and small for gestational age, but not with spontaneous preterm birth: a population-based study on Danish women

Biomarkers for the prediction of preterm delivery.

Biphasic effect of relaxin, inhibitable by a collagenase inhibitor, on the strength of human fetal membranes.

Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism

Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report

Chlamydia trachomatis C-complex serovars are a risk factor for preterm birth

Chromosomal microarray as a primary diagnostic genomic tool for pregnancies defined as being at increased risk within a population based combined first-trimester screening program

Chromosomal microarray in fetuses with increased nuchal translucency

Circulating relaxin and cervical length in midpregnancy are independently associated with spontaneous preterm birth

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Cytokines and the Risk of Preterm Delivery in Twin Pregnancies

Danish Sonographers' Experiences of the Introduction of "Moderate Risk" in Prenatal Screening for Down Syndrome

Denmark's exemplary gender balance trips up in science

Diagnostic performance of quantitative fluorescence PCR analysis in high-risk pregnancies after combined first-trimester screening.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Does Maternal Body Mass Index Affect the Quantity of Circulating Fetal Cells Available to Use for Cell-Based Noninvasive Prenatal Test in High-Risk Pregnancies?

Early mid-trimester serum relaxin, soluble CD163, and cervical length in women at high risk for preterm delivery

Early second-trimester inflammatory markers and short cervical length and the risk of recurrent preterm birth

Eating behavior, prenatal and postnatal growth in Angelman syndrome

Effect of octreotide, captopril or insulin on renal changes and UAE in long-term experimental diabetes

Effects of blood sample handling procedures on measurable inflammatory markers in plasma, serum and dried blood spot samples

Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations

Ethnic differences in key candidate genes for spontaneous preterm birth: TNF-alpha and its receptors

Existing data sources for clinical epidemiology: Danish registries for studies of medical genetic diseases

Experiences and expectations in the first trimester of pregnancy: a qualitative study

Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations

Fetal cells in maternal blood for prenatal diagnosis: a love story rekindled

First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

First trimester biomarkers for prediction of gestational diabetes mellitus

First trimester screening for other trisomies than trisomy 21, 18, and 13

First-trimester maternal plasma cytokine levels, pre-pregnancy body mass index, and spontaneous preterm delivery

First-trimester screening for trisomy 21 in Denmark: implications for detection and birth rates of trisomy 18 and trisomy 13.

Genome sequencing--clinical use

Goblet cell carcinoid in a patient with neurofibromatosis type 1: a rare combination.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

How do geneticists and prospective parents interpret and negotiate an uncertain prenatal genetic result? An analysis of clinical interactions

Identification of biological/biochemical marker(s) for preterm delivery.

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype

Increased bioavailability of TNF-alpha in African Americans during in vitro infection: predisposing evidence for immune imbalance

Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome

Inhibitory effects of octreotide on renal and glomerular growth in early experimental diabetes in mice

Insulin-like growth factor binding protein 1 (IGFBP-1) in vaginal fluid in pregnancy.

Interleukin-18 and interleukin-12 in maternal serum and spontaneous preterm delivery.

Is MED13L-related intellectual disability a recognizable syndrome?

Is carriership of a balanced translocation or inversion an indication for non-invasive prenatal testing?

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship

Low serum interleukin-17 is associated with preterm delivery

Maternal plasma cytokines in early- and mid-gestation of normal human pregnancy and their association with maternal factors

Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum

Mid-pregnancy maternal plasma levels of interleukin 2, 6, and 12, tumor necrosis factor-alpha, interferon-gamma, and granulocyte-macrophage colony-stimulating factor and spontaneous preterm delivery

Multilocus interactions at maternal tumor necrosis factor-alpha, tumor necrosis factor receptors, interleukin-6 and interleukin-6 receptor genes predict spontaneous preterm labor in European-American women

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in the period 1973-2016 in Denmark.

Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations

New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report

No effects of human relaxin on the active and passive biomechanical properties of isolated cervical specimens from nonpregnant women

Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome

Novel variant causes a severe form of metatropic dysplasia

Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort.

On the road to replacing invasive testing with cell-based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism.

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencing

Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p.

Parental response to severe or lethal prenatal diagnosis: a systematic review of qualitative studies.

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome