Search filters

List of works by Ingeborg Barisic

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

scientific article published on 31 May 2018

Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study

scientific article published on 11 December 2017

Comparative analysis of the scope of European Union paediatric investigation plans with corresponding orphan designations

scientific article published on 31 October 2017

Congenital hydrocephalus--prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

scientific article

Congenital hydronephrosis: prenatal diagnosis and epidemiology in Europe.

scientific article published on 5 November 2008

EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication

scientific article published on 28 June 2016

EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations

scientific article (publication date: October 2016)

Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I.

scientific article published on 17 October 2006

Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.

scientific article published on 19 November 2014

Epidemiology of hypospadias in Europe: a registry-based study

scientific article

Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study

scientific article published on 11 April 2014

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

scholarly article by Ester Garne et al published September 2018 in European Journal of Medical Genetics

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

scientific 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

FAS prevalence in a sample of urban schoolchildren in Croatia

scientific article

Familial hemophagocytic lymphohistiocytosis in a 6-week-old male infant.

scientific article published on June 2010

Fraser Syndrome: Epidemiological Study in a European Population

article

Further delineation of the Toriello-Carey syndrome: a report of two siblings

scientific article published in January 2003

GJB2 mutations in patients with nonsyndromic hearing loss from Croatia

scientific article published in October 2009

Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors

scientific article published on 25 August 2017

Hirschsprung's disease prevalence in Europe: a register based study

scientific article

Holt Oram syndrome: a registry-based study in Europe

scientific article

Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

scientific article published on 6 April 2016

Long term trends in prevalence of neural tube defects in Europe: population based study

scientific article

Major congenital anomalies in babies born with Down syndrome: A EUROCAT population-based registry study

article by Joan K. Morris et al published 24 September 2014 in American Journal of Medical Genetics

Maternal risk factors for the VACTERL association: A EUROCAT case-control study

scientific article published on 22 April 2020

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

scientific article published on 3 September 2014

Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia

scientific article published on 31 March 2016

Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability ⬇️

scientific article published on February 6, 2013

Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report ⬇️

scientific article published on June 1, 2011

Osteogenesis imperfecta--multi-systemic and life-long disease that affects whole family

scientific article

Paper 1: The EUROCAT network--organization and processes

scientific article published on 07 March 2011

Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases

scientific article published on 07 March 2011

Paper 6: EUROCAT member registries: organization and activities

scientific article published on 04 March 2011

Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother

scientific article published in July 2003

Prenatal ultrasonographic detection of gastrointestinal obstruction: results from 18 European congenital anomaly registries

scientific article published in July 2002

Prevalence of microcephaly in Europe: population based study

scientific article (publication date: 2016)

Prevalence of the 35delG mutation in the GJB2 gene of patients with nonsyndromic hearing loss from Croatia

scientific article published in January 2005

Prevalence of valproate syndrome in Europe from 2005 to 2014: A registry based multi-centre study

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

scientific article

Preventing neural tube defects in Europe: a missed opportunity

scientific article published on September 2005

Primary prevention of congenital anomalies: recommendable, feasible and achievable

scientific article published on 12 March 2015

Recent decrease in the prevalence of congenital heart defects in Europe

scientific article published on 24 July 2012

Seasonality of congenital anomalies in Europe.

scientific article

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

scientific article published on 09 September 2019

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

article by Ester Garne et al published 28 February 2012 in Birth Defects Research Part A: Clinical and Molecular Teratology

The MECP2 gene mutation screening in Rett syndrome patients from Croatia

scientific article published on December 2006

Trends in congenital anomalies in Europe from 1980 to 2012.

scientific article

Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11 β -Hydroxylase Deficiency

scientific article

Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study

scientific article published on 25 July 2015

Valproic acid monotherapy in pregnancy and major congenital malformations

scientific article

Paulina is supported by:

About Paulina

Help