Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
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 …
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 …
accurate, prospective cancer risk estimates. Objectives To estimate age-specific risks of …
Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome
Weill–Marchesani syndrome (WMS) is a rare condition characterized by short stature,
brachydactyly, joint stiffness, and characteristic eye abnormalities including …
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 …
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 …
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 …
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 …
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 …
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 …
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
The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also
known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces …
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
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 …
a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin …