Lista de obras -

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Congenital hydronephrosis: prenatal diagnosis and epidemiology in Europe.

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

Epidemiology of hypospadias in Europe: a registry-based study

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2017

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

FAS prevalence in a sample of urban schoolchildren in Croatia

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Fraser Syndrome: Epidemiological Study in a European Population

article

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

artículo científico publicado en 2003

GJB2 mutations in patients with nonsyndromic hearing loss from Croatia

artículo científico publicado en 2009

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

artículo científico

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

artículo científico publicado en 2014

Holt Oram syndrome: a registry-based study in Europe

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado el 6 de febrero de 2013

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

artículo científico publicado el 1 de junio de 2011

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

artículo científico publicado en 2014

Paper 1: The EUROCAT network--organization and processes

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2003

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

artículo científico publicado en 2002

Prevalence of microcephaly in Europe: population based study

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2014

Preventing neural tube defects in Europe: a missed opportunity

artículo científico publicado en 2005

Primary prevention of congenital anomalies: recommendable, feasible and achievable

artículo científico publicado en 2015

Recent decrease in the prevalence of congenital heart defects in Europe

artículo científico publicado en 2012

Seasonality of congenital anomalies in Europe.

artículo científico publicado en 2014

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

artículo científico publicado en 2006

Trends in congenital anomalies in Europe from 1980 to 2012.

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico

Valproic acid monotherapy in pregnancy and major congenital malformations

artículo científico publicado en 2010

Lista de obras de

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

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

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

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

Congenital hydronephrosis: prenatal diagnosis and epidemiology in Europe.

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

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

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

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

Epidemiology of hypospadias in Europe: a registry-based study

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

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

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

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

FAS prevalence in a sample of urban schoolchildren in Croatia

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

Fraser Syndrome: Epidemiological Study in a European Population

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

GJB2 mutations in patients with nonsyndromic hearing loss from Croatia

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

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

Holt Oram syndrome: a registry-based study in Europe

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

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

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

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

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

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

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

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

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

Paper 1: The EUROCAT network--organization and processes

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

Paper 6: EUROCAT member registries: organization and activities

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

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

Prevalence of microcephaly in Europe: population based study

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

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

Preventing neural tube defects in Europe: a missed opportunity

Primary prevention of congenital anomalies: recommendable, feasible and achievable

Recent decrease in the prevalence of congenital heart defects in Europe

Seasonality of congenital anomalies in Europe.

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

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

The MECP2 gene mutation screening in Rett syndrome patients from Croatia

Trends in congenital anomalies in Europe from 1980 to 2012.

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

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

Valproic acid monotherapy in pregnancy and major congenital malformations