Concepedia
Author
Laurence Faivre
Also Known As
Alessandra Renieri, Antonio Di Sabatino, Armand Bottani, Camille Engel, Catherine Dugast, Christine Francannet, Faivre L., Faivre, L, Faivre, L., Faivre, Laura
708
Publications
32.6K
Citations
83
H-Index
288
Concepts
All Affiliations
1
60
169
11.8K
2
7
254
3
6
293
4
212
5
14
×
All Concepts
337
23K
78
The revised Ghent nosology for the Marfan syndrome: Table 1
Bart Loeys, Harry C. Dietz, Alan C. Braverman, +10
Journal of Medical Genetics
2010
2.2K
Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study
Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys, +29
The American Journal of Human Genetics
Marfan SyndromeMendelian DisorderGenetic DisorderMedicineGenetics +9
2007
593
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, +50
Nature Genetics
2014
582
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, +177
Nature
Gene DosageGeneticsHuman PolymorphismMolecular GeneticsChromosome 16P11.2 +6
2011
474
Mutation spectrum and splicing variants in the OPA1 gene
Cécile Delettre, Jean‐Michel Griffoin, Josseline Kaplan, +6
Human Genetics
Somatic VariantGeneticsMolecular GeneticsGenomicsMedicine +3
2001
379
Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux
Cynthia F. Bartels, Hülya Bükülmez, Pius S. Padayatti, +22
SclerostinSignal TransductionMolecular PhysiologyBone Morphogenic ProteinGenetic Disorder +6
2004
363
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
Céline Cluzeau, S. Hadj‐Rabia, Marguerite Jambou, +20
Human Mutation
312
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, +65
Neurodevelopmental DisordersMendelian DisorderEpigenetic ChangeGeneticsDna Methylation +9
2020
309
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome: Figure 1
Laurence Faivre, Robert J. Gorlin, Mary K. Wirtz, +8
2003
280
ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome
Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, +8
Mendelian DisorderGenetic DisorderGeneticsAdamts10 MutationsGenetic Epidemiology +2
278
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