Aurélie Gouronc
A5003549271- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Genetic and Kidney Cyst Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Health Systems, Economic Evaluations, Quality of Life
- Genomics and Chromatin Dynamics
- Epilepsy research and treatment
- Prenatal Screening and Diagnostics
- Biomedical Research and Pathophysiology
- Pediatric Hepatobiliary Diseases and Treatments
- Genetic factors in colorectal cancer
- Autism Spectrum Disorder Research
- Amino Acid Enzymes and Metabolism
- Renal and related cancers
Hôpitaux Universitaires de Strasbourg
2020-2024
Université de Strasbourg
2022-2024
We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and (44 caregivers. These include several symptoms in common, fairly similar distribution, which suggests that caregivers' data are close to physicians' data. For example, both identified early childhood were not previously described: feeding difficulties, mean walking age, age at first words. Each the datasets provides complementary knowledge. confirmed those literature more details on...
Abstract Bardet‐Biedl syndrome (BBS) is a rare ciliopathy with variable retinal dystrophy, polydactyly, renal abnormalities, obesity, cognitive impairment, and hypogonadism. Biallelic pathogenic variants have been identified in 24 genes, leading to BBS an autosomal recessive inheritance pattern. In this study, we investigated cohort of 16 families (20 individuals) presenting typical originating from La Réunion Island using sequencing (Sanger high‐throughput methods) SNP array. eight (12 the...
Alström syndrome (ALMS) is a rare autosomal recessive multi-organ considered to date as ciliopathy and caused by variations in ALMS1. Phenotypic variability well-documented, particularly for the systemic disease manifestations; however, early-onset progressive retinal degeneration affecting both cones rods (cone-rod type) universal, leading blindness teenage years. Other features include cardiomyopathy, kidney dysfunction, sensorineural deafness, childhood obesity associated with...
A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal microduplication syndrome was described, associated growth delay, microcephaly, psychomotor delay and dysmorphic features. The aim our study to better characterize the duplications region (prox dup), propose comprehensive analysis underlying genomic mechanism. We report largest cohort prox dup through collaborative study. collected...
Ciliopathies are rare genetic disorders caused by dysfunction of the primary or motile cilia. Their mode inheritance is mostly autosomal recessive with biallelic pathogenic variants inherited from parents. However, exceptions exist such as uniparental disomy (UPD) appearance a de novo variant in trans an variant. These two mechanisms expected to be extremely rare, and few data available literature, especially regarding ciliopathies. In this study, we investigated 940 individuals (812...
Abstract We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and (44 caregivers. These include several symptoms in common, fairly similar distribution, which suggests that caregivers’ data are close to physicians’ data. For example, both identified early childhood were not previously described: feeding difficulties, mean walking age at first words. Each the datasets provide complementary knowledge. confirmed those literature more details on...