A5078522757- Cleft Lip and Palate Research
- Craniofacial Disorders and Treatments
- Congenital Ear and Nasal Anomalies
- Ocular Disorders and Treatments
- Vascular Malformations and Hemangiomas
- dental development and anomalies
- Digestive system and related health
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Vascular Anomalies and Treatments
- Genomic variations and chromosomal abnormalities
- Vascular Malformations Diagnosis and Treatment
de Duve Institute
2017-2024
UCLouvain
2017-2024
Center for Human Genetics
2017
Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia capillary malformation (CM)-AVM. Previously, we identified RASA1 mutations 50% of patients with CM-AVM. Herein studied non-RASA1 to further elucidate the pathogenicity CMs AVMs.We conducted a genome-wide linkage study on CM-AVM family. Whole-exome sequencing was performed 9 unrelated families. We...
The pathophysiological basis of non-syndromic orofacial cleft (NsOFC) is still largely unclear. However, exome sequencing (ES) has led to identify several causative genes, often with reduced penetrance. Among these, the Rho GTPase activating protein 29 (ARHGAP29) been previously implicated in 7 families NsOFC. We investigated a cohort 224 NsOFCs for which no genetic pathogenic variant had identified by diagnostic testing. used ES and bioinformatic filtering four novel putative variants...
<title>Abstract</title> The pathophysiological basis of non-syndromic cleft lip and/or palate (NsCL/P) is still largely unclear. However, exome sequencing (ES) has allowed to associate several genes with NsCL/P, often reduced penetrance. Among these genes, the <italic>Rho GTPase activating protein 29 (ARHGAP29)</italic> been previously implicated in 7 families NsCL/P. We investigated a cohort 224 NsCLPs for which no genetic mutation had identified by diagnostic testing. used ES and...
Abstract Orofacial clefts (OC) are the most common birth defects in humans and approximately 30% of them form group syndromic orofacial (SOCs). Microphthalmia/anophthalmia/coloboma spectrum (MAC) can be associated with OC, however genetic etiologies OC-MAC have been poorly characterized. This study describes genomic findings among individuals recorded Brazilian Database on Craniofacial Anomalies (BDCA). Chromosomal microarray analysis (CMA) Whole exome sequencing (WES) were performed 17...