A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2
…, KD Macdermot, MM Van Haelst, C Vincent-Delorme… - Nature, 2010 - nature.com
Obesity has become a major worldwide challenge to public health, owing to an interaction
between the Western 'obesogenic'environment and a strong genetic contribution. Recent …
between the Western 'obesogenic'environment and a strong genetic contribution. Recent …
Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
…, J Thevenon, J Van‐Gils, C Vincent‐Delorme… - Clinical …, 2018 - Wiley Online Library
Wiedemann‐Steiner syndrome (WSS) is a rare syndromic condition in which intellectual
disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies …
disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies …
[HTML][HTML] X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
…, M Cohen, L Van Maldergem, C Vincent-Delorme… - Molecular …, 2016 - nature.com
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …
During the past two decades in excess of 100 X-chromosome ID genes have been …
C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients
…, B Tuysuz, AM van Eerde, C Vincent‐Delorme… - Human …, 2013 - Wiley Online Library
De novo germline variants in several components of the SWI/SNF‐like BAF complex can
cause C offin–S iris syndrome (CSS), N icolaides–B araitser syndrome (NCBRS), and …
cause C offin–S iris syndrome (CSS), N icolaides–B araitser syndrome (NCBRS), and …
[HTML][HTML] Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
…, C Coubes, L Pinson, M Willems, C Vincent-Delorme… - Genetics in …, 2019 - Elsevier
Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating
conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants …
conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants …
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency
…, L Hertz-Pannier, C Vincent-Delorme… - Journal of medical …, 2003 - jmg.bmj.com
Leigh syndrome is a subacute necrotising encephalomyopathy frequently ascribed to
mitochondrial respiratory chain deficiency. This condition is genetically heterogeneous, as …
mitochondrial respiratory chain deficiency. This condition is genetically heterogeneous, as …
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
…, A Verloes, C Vincent‐Delorme… - American Journal of …, 2016 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical
face and distal limbs abnormalities, intellectual disability, and a vast number of other …
face and distal limbs abnormalities, intellectual disability, and a vast number of other …
[HTML][HTML] Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
…, A Verloes, M Vincent, C Vincent-Delorme… - Genetics in …, 2017 - nature.com
Purpose: Postzygotic activating mutations of PIK3CA cause a wide range of mosaic
disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We …
disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We …
[HTML][HTML] The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
…, S Venkateswaran, C Vilain, C Vincent-Delorme… - Genetics in …, 2019 - nature.com
Purpose Pathogenic variants in ARID1B are one of the most frequent causes of intellectual
disability (ID) as determined by large-scale exome sequencing studies. Most studies …
disability (ID) as determined by large-scale exome sequencing studies. Most studies …
[HTML][HTML] New insights into genotype–phenotype correlation for GLI3 mutations
…, M Lackmy-Port-Lis, C Vincent-Delorme… - European Journal of …, 2015 - nature.com
The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig
cephalopolysyndactyly syndrome (GCPS) and Pallister–Hall syndrome (PHS). PHS was first …
cephalopolysyndactyly syndrome (GCPS) and Pallister–Hall syndrome (PHS). PHS was first …