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Prenatal diagnosis of Juberg-Hayward syndrome.
Couvreur-Lionnais S, Rousseau T, Laurent N, Thauvin-Robinet C, Senet-Lacombe E, Delezoïde AL, Mugneret F, Durand C, Faivre L, Sagot P. Couvreur-Lionnais S, et al. Among authors: mugneret f. Prenat Diagn. 2005 Feb;25(2):172-5. doi: 10.1002/pd.943. Prenat Diagn. 2005. PMID: 15712337
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.
Faivre L, Rousseau T, Laurent N, Gosset P, Sanlaville D, Thauvin-Robinet C, Cusin V, Lionnais S, Callier P, Khau Van Kien P, Huet F, Turleau C, Sagot P, Mugneret F. Faivre L, et al. Among authors: mugneret f. Prenat Diagn. 2004 May;24(5):393-5. doi: 10.1002/pd.891. Prenat Diagn. 2004. PMID: 15164417
A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region.
Mosca AL, Callier P, Faivre L, Laurent N, Rousseau T, Marle N, Payet M, Guy H, Couvreur S, Masurel-Paulet A, Sagot P, Thauvin-Robinet C, Mugneret F. Mosca AL, et al. Among authors: mugneret f. Am J Med Genet A. 2011 Aug;155A(8):2031-4. doi: 10.1002/ajmg.a.34105. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739595 No abstract available.
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, Gautier E, Huet F, Teyssier JR, Tosi M, Frébourg T, Faivre L. Thauvin-Robinet C, et al. Among authors: mugneret f. Hum Mutat. 2009 Feb;30(2):E320-9. doi: 10.1002/humu.20888. Hum Mutat. 2009. PMID: 19023858
Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses.
Mosca AL, Pinson L, Andrieux J, Copin H, Bigi N, Puechberty J, Sarda P, Receveur A, Sevestre H, Pigeonnat S, Marle N, Payet M, Ragon C, Rousseau T, Thauvin-Robinet C, Masurel-Paulet A, Schneider A, Laurent N, Sagot P, Mugneret F, Lefort G, Faivre L, Callier P. Mosca AL, et al. Among authors: mugneret f. Prenat Diagn. 2011 Sep;31(9):912-4. doi: 10.1002/pd.2793. Epub 2011 Jun 27. Prenat Diagn. 2011. PMID: 21706508 No abstract available.
146 results