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List of works by Christine Verellen-Dumoulin

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin

scientific article published in November 2003

Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique

scientific article published on 01 April 2006

Attentional impairments in Huntington's disease: A specific deficit for the executive conflict

scientific article published on 27 February 2017

Clinical and genetic characteristics of late-onset Huntington's disease

scientific article

Comparison of the real-time PCR method and the Gen-Probe amplified Mycobacterium tuberculosis direct test for detection of Mycobacterium tuberculosis in pulmonary and nonpulmonary specimens

scientific article

Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature ⬇️

scientific article published on October 30, 2003

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

scientific article

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome ⬇️

scientific article published on December 15, 2010

Discordant monozygotic twins for macrocephaly‐capillary malformation ⬇️

scientific article published on May 14, 2012

Discrepancies in reporting the CAG repeat lengths for Huntington's disease

scientific article

Dissociating emotional and cognitive empathy in pre-clinical and clinical Huntington's disease

scientific article published on 28 January 2016

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

Fraser Syndrome: Epidemiological Study in a European Population

article

Free fetal DNA concentration in maternal plasma during normal labour at term

scientific article published on December 2003

Holt Oram syndrome: a registry-based study in Europe

scientific article

Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population

scientific article

Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene

scientific article published on 09 January 2013

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

scientific article

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

scientific article published on 3 September 2014

Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function.

scientific article

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

scientific article

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

scientific article published on 9 January 2008

Paper 6: EUROCAT member registries: organization and activities

scientific article published on 04 March 2011

Polymicrogyria in chromosome 22q11 deletion syndrome

scientific article published in January 2002

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

scientific article

Prevalence of microcephaly in Europe: population based study

scientific article (publication date: 2016)

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

The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe: An Ecological Time Series Study.

scientific article

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset

scientific article

The radioenhancement of two human head and neck squamous cell carcinomas by 2'-2' difluorodeoxycytidine (gemcitabine; dFdC) is mediated by an increase in radiation-induced residual chromosome aberrations but not residual DNA DSBs

scientific article

Trends in congenital anomalies in Europe from 1980 to 2012.

scientific article

Use of hierarchical models to analyze European trends in congenital anomaly prevalence

scientific article

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