Search filters

List of works by Caroline Rooryck

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype

scientific article published on 03 December 2011

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

scientific article published on 28 November 2017

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene

scientific article published on 3 September 2009

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

scientific article

A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

scientific article published on 27 January 2011

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia

scientific article published on 19 April 2011

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation

scientific article published on 2 October 2007

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.

scientific article published on 3 October 2012

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

scientific article

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

article

A novel de novo mutation in MYT1, the unique OAVS gene identified so far.

scientific article published on 14 June 2017

Albinism in a patient with mutations at both the OA1 and OCA3 loci.

scientific article

Albinisme oculo-cutané

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

scientific article published in 2023

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

scientific article published on 01 August 2010

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia

scientific article published on 8 February 2012

BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus.

scientific article published on 8 June 2015

Bardet-Biedl syndrome

scientific article

Bardet-biedl syndrome and brain abnormalities.

scientific article published in February 2007

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

article

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female

scientific article

Brachydactyly type A1 with short humerus and associated skeletal features

scientific article published on 01 December 2010

Cardiac Contractility Modulation in a Model of Repaired Tetralogy of Fallot: A Sheep Model

article

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum

scientific article published on 2 February 2010

Characterization of hypertrophic cardiomyopathy according to global, regional, and multi-layer longitudinal strain analysis, and prediction of sudden cardiac death

scientific article published on 27 February 2018

Comparison of Resting and Exercise Echocardiographic Parameters as Indicators of Outcomes in Hypertrophic Cardiomyopathy

scientific article published on 20 November 2014

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

scientific article

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

scientific article published on 8 March 2017

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

scientific article published on 2 December 2015

Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma.

scientific article

Description of a family with X-linked OAVS associated with polyalanine tract expansion in ZIC3

scientific article published on 08 July 2020

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

scientific article published on 5 January 2012

Early fetal presentation of Koolen-de Vries: Case report with literature review

scientific article

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

scientific article published on 16 October 2013

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication

scientific article published on 20 July 2013

Fetal phenotypes in otopalatodigital spectrum disorders

scientific article published on 25 September 2015

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

scientific article

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

scientific article published on 01 August 2020

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene

scientific article published on 15 June 2017

Genetic basis of oculocutaneous albinism

Hallerman–Streiff-like syndrome presenting with laterality and cardiac defects

scientific article published on 01 April 2009

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

scientific article published on 18 November 2010

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

scientific article published on 23 October 2013

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome

scientific article

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

scientific article

Identification of Region-Specific Myocardial Gene Expression Patterns in a Chronic Swine Model of Repaired Tetralogy of Fallot

scientific article published on 7 August 2015

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana

article

Interest of Chromosomal Microarray Analysis in the prenatal diagnosis of fetal intrauterine growth restriction

scientific article published on 22 November 2018

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

article

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy

scientific article published on 01 March 2004

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

scientific article published in October 2008

Morphological and functional abnormalities pattern in hypertrophy-free HCM mutation carriers detected with echocardiography.

scientific article

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.

scientific article published on 29 June 2016

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

scientific article

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

scientific article

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

scientific article published on 29 April 2014

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article published on 20 August 2015

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient

scientific article published in June 2006

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

scientific article published on 19 May 2016

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

article

Polymorphisme d’expression de l’atteinte épileptique et cognitive du syndrome du chromosome 20 en anneau

scientific article published on 01 April 2011

Prenatal diagnosis using array-CGH: a French experience.

scientific article

Proarrhythmic remodelling of the right ventricle in a porcine model of repaired tetralogy of Fallot

scientific article published on 8 October 2016

SCA27 is a cause of early-onset ataxia and developmental delay

scientific article published on 5 December 2014

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

scientific article published on 28 August 2013

SMAD4 Germinal Mosaicism in a Family with Juvenile Polyposis and Hypertrophic Osteoarthropathy

scientific article published on 01 July 2005

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

scientific article published on 14 June 2017

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

scientific article

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

scientific article

Understanding flow patterns and inflammatory status in intracranial aneurysms: Towards a personalized medicine

scientific article

Upright treadmill vs. semi-supine bicycle exercise echocardiography to provoke obstruction in symptomatic hypertrophic cardiomyopathy: a pilot study

scientific article published on 01 January 2018

Paulina is supported by:

About Paulina

Help