Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

…, C Barthelemy, C Andres, L Faivre… - Archives of general …, 2009 - jamanetwork.com
Context Results of comparative genomic hybridization studies have suggested that rare
copy number variations (CNVs) at numerous loci are involved in the cause of mental …

Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

…, C Lasset, D Stoppa-Lyonnet, JP Fricker, L Faivre… - Jama, 2017 - jamanetwork.com
Importance The clinical management ofBRCA1andBRCA2mutation carriers requires
accurate, prospective cancer risk estimates. Objectives To estimate age-specific risks of …

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

L Faivre, H Dollfus, S Lyonnet… - American Journal of …, 2003 - Wiley Online Library
Weill–Marchesani syndrome (WMS) is a rare condition characterized by short stature,
brachydactyly, joint stiffness, and characteristic eye abnormalities including …

The revised Ghent nosology for the Marfan syndrome

…, Y Hilhorst-Hofstee, G Jondeau, L Faivre… - Journal of medical …, 2010 - jmg.bmj.com
The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology),
outlined by international expert opinion to facilitate accurate recognition of this genetic …

Chromatin‐based mechanisms of temperature memory in plants

T Friedrich, L Faivre, I Bäurle… - Plant, Cell & …, 2019 - Wiley Online Library
For successful growth and development, plants constantly have to gauge their environment.
Plants are capable to monitor their current environmental conditions, and they are also able …

[PDF][PDF] Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international …

L Faivre, G Collod-Beroud, BL Loeys, A Child… - The American Journal of …, 2007 - cell.com
Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been
associated with a wide range of overlapping phenotypes. Clinical care is complicated by …

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

…, JE Davidson, L De Waele, I Desguerre, L Faivre… - Nature …, 2014 - nature.com
The type I interferon system is integral to human antiviral immunity. However, inappropriate
stimulation or defective negative regulation of this system can lead to inflammatory disease …

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

…, JS El-Sayed Moustafa, P Elliott, BHW Faas, L Faivre… - Nature, 2011 - nature.com
Both obesity and being underweight have been associated with increased mortality,.
Underweight, defined as a body mass index (BMI)≤ 18.5 kg per m2 in adults and≤− 2 …

[PDF][PDF] Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

…, T Cole, J Morton, V Cormier-Daire, L Faivre… - The American Journal of …, 2004 - cell.com
The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also
known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces …

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

…, HS Smitt, P Vabres, L Faivre… - Human molecular …, 2004 - academic.oup.com
Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is
a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin …