Year |
Citation |
Score |
2016 |
Shimojima K, Narai S, Togawa M, Doumoto T, Sangu N, Vanakker OM, de Paepe A, Edwards M, Whitehall J, Brescianini S, Petit F, Andrieux J, Yamamoto T. 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly. European Journal of Medical Genetics. PMID 27633570 DOI: 10.1016/J.Ejmg.2016.09.008 |
0.303 |
|
2015 |
Armanet N, Metay C, Brisset S, Deschenes G, Pineau D, Petit FM, Di Rocco F, Goossens M, Tachdjian G, Labrune P, Tosca L. Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease. Molecular Cytogenetics. 8: 8. PMID 25670966 DOI: 10.1186/s13039-015-0107-x |
0.306 |
|
2014 |
Doco-Fenzy M, Leroy C, Schneider A, Petit F, Delrue MA, Andrieux J, Perrin-Sabourin L, Landais E, Aboura A, Puechberty J, Girard M, Tournaire M, Sanchez E, Rooryck C, Ameil A, et al. Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes. European Journal of Human Genetics : Ejhg. 22: 471-9. PMID 24129437 DOI: 10.1038/ejhg.2013.189 |
0.372 |
|
2013 |
Demeer B, Andrieux J, Receveur A, Morin G, Petit F, Julia S, Plessis G, Martin-Coignard D, Delobel B, Firth HV, Thuresson AC, Lanco Dosen S, Sjörs K, Le Caignec C, Devriendt K, et al. Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. European Journal of Medical Genetics. 56: 26-31. PMID 23063576 DOI: 10.1016/j.ejmg.2012.09.005 |
0.304 |
|
2011 |
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, ... ... Petit F, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 478: 97-102. PMID 21881559 DOI: 10.1038/Nature10406 |
0.363 |
|
2011 |
Petit F, Andrieux J, Holder-Espinasse M, Bouquillon S, Pennaforte T, Storme L, Manouvrier-Hanu S. Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia. European Journal of Medical Genetics. 54: e525-7. PMID 21782985 DOI: 10.1016/J.Ejmg.2011.06.011 |
0.305 |
|
2004 |
Comas D, Petit F, Preat T. Drosophila long-term memory formation involves regulation of cathepsin activity. Nature. 430: 460-3. PMID 15269770 DOI: 10.1038/Nature02726 |
0.453 |
|
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